Science.gov

Sample records for focal palmoplantar keratoderma

  1. Hereditary epidermolytic palmoplantar keratoderma.

    PubMed

    Blasik, L G; Dimond, R L; Baughman, R D

    1981-04-01

    We describe herein a patient in whose family 11 of 20 members have a palmoplantar keratoderma. The pathologic findings in the proband were those of epidermolytic hyperkeratosis. As in the other families described, the disease was found to be inherited as an autosomal dominant trait. All involved family members had hyperkeratosis of the palms and soles as infants. Light microscopy showed hyperkeratosis, hypergranulosis with large irregular keratohyalin granules, and large clear spaces in the cells of the granular and upper spinous layers. Our electron microscopic findings showed that the clear spaces were areas of cytoplasm filled with a fibrillar material and cellular organelles; abnormal clumps of tonofilaments and keratohyalin were also present. We consider this disorder to be a form of keratoderma rather than a localized ichthyosis.

  2. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.

    PubMed

    Shamsher, M K; Navsaria, H A; Stevens, H P; Ratnavel, R C; Purkis, P E; Kelsell, D P; McLean, W H; Cook, L J; Griffiths, W A; Gschmeissner, S

    1995-10-01

    Keratins K6 and K16 are expressed in suprabasal interfollicular epidermis in wound healing and other pathological conditions associated with hyperproliferation, such as psoriasis and are induced when keratinocytes are cultured in vitro. However, these keratins are also constitutively expressed in normal suprabasal mucosal and palmoplantar keratinocytes. Mutations in keratins have been reported in the basal keratin pair K5 and K14 in epidermolysis bullosa simplex and in suprabasal epidermal keratins K1, K2 and K10 in epidermolytic ichthyoses. Two families with autosomal dominant disorder of focal non epidermolytic palmoplantar keratoderma, have oral mucosal and follicular lesions in addition to the palmoplantar hyperkeratosis. Previous studies have shown linkage in these families to the type I keratin gene cluster at 17q12-q21 and this report shows that the cDNA of affected members of both families have novel heterozygous mutations in the expressed keratin 16 gene. These mutations (R10C and N8S) lie in the helix initiation motif of the 1A domain. These mutations do not appear to cause epidermolysis on light or electron microscopy, which may reflect differences in function, assembly or interaction of the 'hyperproliferative' or 'mucoregenerative' keratins from other major types of keratins. The mutations reported here are the first to describe the molecular pathology of focal non epidermolytic palmoplantar keratoderma.

  3. Mutilating palmo-plantar keratoderma.

    PubMed

    Gamborg Nielsen, P

    1983-01-01

    A 36-year-old male, with no history of hereditary palmo-plantar keratoderma, showed at the age of 2-3 years a typical keratoderma of the Unna Thost variety on palms and soles. At the age of 16 years he developed mutilating symptoms localized to the fingers. Radiologic examination showed abnormally pointed end phalanges.

  4. Primary digital clubbing associated with palmoplantar keratoderma.

    PubMed

    Barraud-Klenovsek, M M; Lübbe, J; Burg, G

    1997-01-01

    The association of hereditary palmoplantar keratoderma and idiopathic clubbing of the digits in the same patient is uncommon. The differential diagnosis includes the Bureau-Barrière-Thomas syndrome, primary pachydermoperiostosis, Fischer's and Volavsek's syndromes, and palmoplantar keratoderma Vörner. A 30-year-old woman with palmoplantar keratoderma and clubbing of the fingers since the age of 13 years is presented. PMID:9187857

  5. Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).

    PubMed

    Kelsell, D P; Risk, J M; Leigh, I M; Stevens, H P; Ellis, A; Hennies, H C; Reis, A; Weissenbach, J; Bishop, D T; Spurr, N K; Field, J K

    1996-06-01

    Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar ectodermal dysplasia type III) is associated with oesophageal cancer in three families: two large pedigrees located in Liverpool, UK and in the midwestern American states and one smaller family from Germany. In these families, the PPK is inherited as autosomal dominant and has a late onset, usually manifesting between 7 and 8 years of age. The disease is characterised by thickening of the pressure areas of the soles, but is not restricted to the feet and also presents with oral leukokeratosis and follicular hyperkeratosis. The disease locus [previously termed the "tylosis oesophageal cancer gene' (TOC) locus] has been mapped to 17q23-qter by linkage analysis. This region is located telomeric to the keratin 16 gene, in which mutations have been identified in focal PPK families who show no increased cancer risk. We describe the close mapping of this locus to the interval between AFMb054zf9 and D17S1603 using haplotype analysis of additional Généthon markers in the region and show that although the American family is unlikely to be related to either of the other two, the UK and German pedigrees may share a common descent. This work provides a basis for positional cloning and candidate gene analysis in order to identify a gene that may be involved in familial oesophageal cancer.

  6. Autosomal recessive epidermolytic palmoplantar keratoderma.

    PubMed

    Alsaleh, Q A; Teebi, A S

    1990-08-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features of epidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed.

  7. Autosomal recessive epidermolytic palmoplantar keratoderma.

    PubMed Central

    Alsaleh, Q A; Teebi, A S

    1990-01-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features of epidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed. Images PMID:2145438

  8. A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

    PubMed Central

    de Zwart-Storm, Eugene A.; van Geel, Michel; van Neer, Pierre A.F.A.; Steijlen, Peter M.; Martin, Patricia E.; van Steensel, Maurice A.M.

    2008-01-01

    Gap junctions, which consist of connexins, are intercellular channels that mediate rapid intercellular communication. In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction protein. Mutations in GJB2 cause a wide variety of unique disorders, but despite extensive research, their mechanisms of action are poorly understood. The identification of novel diseases caused by mutations in GJB2 may help to illuminate the genotype-phenotype correlation and elucidate the function of different regions of the protein. Here, we report the first account of a family with a GJB2 missense mutation in the second extracellular domain (p.Ser183Phe) that causes skin abnormalities in addition to sensorineural hearing loss. Using fluorescent connexin26-EGFP fusion proteins, we showed that the mutation induces a partial protein transport defect that cannot be rescued by wild-type protein. Dye-transfer experiments using a parachute assay revealed channel functionality. Although p.Ser183Phe affects the second extracellular domain, mutations in the first extracellular domain also lead to focal palmoplantar keratoderma and likewise perturb protein transport in a dominant-negative manner. Therefore, we hypothesize that focal palmoplantar keratoderma in gap junction skin disease may be specifically associated with connexin trafficking defects as well as with mutations affecting its extracellular domains, thus broadening the spectrum of GJB2-associated diseases. PMID:18787097

  9. Epidermolytic variant of hereditary palmoplantar keratoderma.

    PubMed

    Camisa, C; Williams, H

    1985-02-01

    The seventh family with autosomal dominant epidermolytic palmoplantar keratoderma is reported. The lesions are clinically indistinguishable from Unna-Thost disease but resemble epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) histopathologically. A skin biopsy is essential for making the correct diagnosis. One of our patients was treated with isotretinoin for 13 weeks without significant improvement.

  10. An unusual case of palmoplantar keratoderma.

    PubMed

    Devos, S A; Delescluse, J

    2003-01-01

    A 55-year-old woman with palmoplantar keratoderma presented an associated hyperhidrosis with distinct odour and maceration. She had had the lesions for about 20 years and this seemed to be an isolated case in her family. This case appeared very unusual because there were no signs of acanthokeratolysis in the biopsies. Two months of treatment with acitretin (Neotigason; 25 mg daily), produced a spectacular result: clearance of all the lesions on both hands and a strong diminution of the lesions on the soles. The Unna-Thost variant of palmoplantar keratoderma usually appears in the first few months of life, and it rarely appears in the third decade. The condition is inherited as an autosomal dominant with high penetrance and expressivity. Our subject appeared to be an exception to these two facts.

  11. Mycosis fungoides: an important differential diagnosis for acquired palmoplantar keratoderma.

    PubMed

    Kim, Janet; Foster, Rachael; Lam, Minh; Kumarasinghe, Sujith Prasad

    2015-02-01

    Mycosis fungoides is the most common subtype of primary cutaneous lymphoma and has several clinical variants. We report a 74-year-old man presenting with an acquired palmoplantar keratoderma initially diagnosed and treated as psoriasis with suboptimal improvement. Several months later the patient developed patches and plaques that were histologically consistent with mycosis fungoides. These lesions were ameliorated with the treatment of the underlying mycosis fungoides and the palmoplantar keratoderma resolved promptly with radiotherapy. This case highlights the importance of considering mycosis fungoides as an infrequent but serious cause of acquired palmoplantar keratoderma.

  12. Hereditary palmoplantar keratodermas in South India.

    PubMed

    Gulati, S; Thappa, D M; Garg, B R

    1997-12-01

    Thirty-one patients with inherited palmoplantar keratodermas (PPKs) were screened from 59,490 cases who visiting the OPD of JIPMER, Pondicherry. The prevalence rate was 5.2 per 10,000 population (1:2000 approx.). PPKs were more common in males (25 patients) than females (6 patients); the overall male to female ratio was 4.2:1. The incidence was highest in the group from 0-10 years of life (67.7% of cases). Unna-Thost syndrome topped the list with 38.7% of cases and its prevalence 1:6000 (approx.), followed by Greither's disease (22.9%) and others-Vohwinkel (3 cases), idiopathic punctate (2 cases), ichthyosis vulgaris associated PPK (2 cases) etc. This study has for the first time reported the prevalence and patterns of hereditary PPKs in South India.

  13. Hereditary palmoplantar keratoderma in the northernmost county of Sweden.

    PubMed

    Gamborg Nielsen, P

    1985-01-01

    A papular and a diffuse variety of hereditary palmoplantar keratoderma (Unna Thost) are described. It was not possible to demonstrate any histopathological differences between the two varieties. Of the patients examined 36.2% were found to have dermatophytosis in addition to hereditary palmoplantar keratoderma. The hyperkeratosis was smooth and uniform in both varieties. When scaling and fissuring did occur they were signs of dermatophytosis and not part of the clinical picture. The examination of biopsies stained with H&E and PAS showed that dermatophytosis in patients with hereditary palmoplantar keratoderma, especially those with recurrent vesicular eruptions, gave rise to a histopathological picture which was, in some respects, similar to that of acute vesicular eczema.

  14. Palmoplantar keratoderma in Slurp2-deficient mice

    PubMed Central

    Allan, Christopher M.; Procaccia, Shiri; Tran, Deanna; Tu, Yiping; Barnes, Richard H.; Larsson, Mikael; Allan, Bernard B.; Young, Lorraine C.; Hong, Cynthia; Tontonoz, Peter; Fong, Loren G.; Young, Stephen G.; Beigneux, Anne P.

    2015-01-01

    SLURP1, a member of the Ly6 protein family, is secreted by suprabasal keratinocytes. Mutations in SLURP1 cause a palmoplantar keratoderma (PPK) known as mal de Meleda. Another secreted Ly6 protein, SLURP2, is encoded by a gene located ~20 kb downstream from SLURP1. SLURP2 is produced by suprabasal keratinocytes. To investigate the importance of SLURP2, we first examined Slurp2 knockout mice in which exon 2–3 sequences had been replaced with lacZ and neo cassettes. Slurp2−/− mice exhibited hyperkeratosis on the volar surface of the paws (i.e., PPK), increased keratinocyte proliferation, and an accumulation of lipid droplets in the stratum corneum. They also exhibited reduced body weight and hind limb clasping. These phenotypes are very similar to those of Slurp1−/− mice. To solidify a link between Slurp2 deficiency and PPK and to be confident that the disease phenotypes in Slurp2−/− mice were not secondary to the effects of the lacZ and neo cassettes on Slurp1 expression, we created a new line of Slurp2 knockout mice (Slurp2X−/−) in which Slurp2 was inactivated with a simple nonsense mutation. Slurp2X−/− mice exhibited the same disease phenotypes. Thus, Slurp2 deficiency and Slurp1 deficiencies cause the same disease phenotypes. PMID:26967477

  15. Isolated cases of palmoplantar keratoderma, Unna-Thost type.

    PubMed

    Kansky, A; Stanimirović, A; Basta-Juzbasic, A

    1992-06-01

    A study on the prevalence of hereditary palmoplantar keratoderma, Unna-Thost type, was carried out in Croatia. Altogether 205 cases were verified, and of these forty-eight were chosen for further studies. Six isolated cases of hereditary palmoplantar keratoderma, Unna-Thost type, were found. The following theories were considered to explain such a phenomenon: spontaneous mutation, reduced gene expression, incomplete penetration of the gene, late onset of the disease, unknown biological father of the proband, and involvement of genes in addition to the autosomal dominant one.

  16. [Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].

    PubMed

    Zhang, Xian-ning; Mao, Wei; He, Xin-hui; Lai, Zheng

    2004-08-01

    In this article we reviewed the current researches on the molecular basis of epidermolytic palmoplantar keratoderma (EPPK) and the structure and function of the keratins with mutations that can cause inherited keratin disorders. Also summarized are seventeen mutations of keratin 9 in EPPK in different ethnic populations.

  17. Palmoplantar keratoderma with progressive gingivitis and recurrent pyodermas.

    PubMed

    Moss, Tyler A; Spillane, Anne P; Almquist, Sam F; McCleskey, Patrick E; Wisco, Oliver J

    2014-04-01

    Papillon-Lefèvre syndrome (PLS) is a rare inherited palmoplantar keratoderma (PPK) that is associated with progressive gingivitis and recurrent pyodermas. We present a case exhibiting classic features of this autosomal-recessive condition and review the current understanding of its pathophysiology, diagnosis, and treatment. Additionally, a review of pertinent transgredient PPKs is undertaken, with key and distinguishing features of each syndrome highlighted.

  18. Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association

    PubMed Central

    Kothiwala, Sunil K; Prajapat, Mahesh; Kuldeep, CM

    2016-01-01

    Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ–Siemens–Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association. PMID:27730036

  19. Genetics Home Reference: palmoplantar keratoderma with deafness

    MedlinePlus

    ... keratoderma with deafness change single protein building blocks ( amino acids ) in connexin 26. The altered protein probably disrupts ... of RNA, called transfer RNA (tRNA) , helps assemble amino acids into full-length, functioning proteins. The MT-TS1 ...

  20. Amino acid analysis of the horny layer of the soles of patients with hereditary palmoplantar keratoderma.

    PubMed

    Nielsen, P G

    1985-01-01

    The amino acid composition of keratin from soles of patients suffering from hereditary palmoplantar keratoderma of the Unna Thost variety was investigated. Patients were divided into two groups: those without dermatophytosis and those whose hereditary palmoplantar keratoderma was complicated with a dermatophyte infection. The amino acid composition of the horny layer was compared to that of control individuals and to a previously performed analysis of mammalian hair. However, no difference was found between the groups nor was any explanation as to why Trichophyton mentagrophytes occurred significantly more often in soles of patients with hereditary palmoplantar keratoderma made apparent.

  1. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

    PubMed

    Hatsell, S J; Eady, R A; Wennerstrand, L; Dopping-Hepenstal, P; Leigh, I M; Munro, C; Kelsell, D P

    2001-04-01

    We report a novel mutation in the exon 6 splice donor site of keratin 1 (G4134A) that segregates with a palmoplantar keratoderma in three kindreds. The nucleotide substitution leads to the utilization of a novel in-frame splice site 54 bases downstream of the mutation with the subsequent insertion of 18 amino acids into the 2B rod domain. This mutation appears to have a milder effect than previously described mutations in the helix initiation and termination sequence on the function of the rod domain, with regard to filament assembly and stability. Affected individuals displayed only mild focal epidermolysis in the spinous layer of palmoplantar epidermis, in comparison with cases of bullous congenital ichthyosiform erythroderma also due to keratin 1 mutations, which show widespread and severe epidermolysis. This study describes a novel mutation in KRT1 that results in a phenotype distinct from classical bullous congenital ichthyosiform erythroderma.

  2. Epidermolytic palmoplantar keratoderma of Vörner: is it the most frequent type of hereditary palmoplantar keratoderma?

    PubMed

    Hamm, H; Happle, R; Butterfass, T; Traupe, H

    1988-01-01

    In a retrospective study, we reevaluated the biopsies that had been obtained, during the past 11 years, from 26 patients presenting with hereditary palmoplantar keratoderma (PPK). Twelve out of 26 biopsies disclosed the histological features of epidermolytic hyperkeratosis, consistent with the diagnosis of epidermolytic PPK of Vörner. A review of the histologically examined cases of the literature revealed a comparable predominance of this hereditary PPK. We conclude that, in contrast to the current opinion, epidermolytic PPK of Vörner represents the most frequent type of hereditary PPK.

  3. Molecular and clinical heterogeneity in palmoplantar keratoderma (PPK)

    SciTech Connect

    Hennis, H.C.; Sperling, K.; Reis, A.

    1994-09-01

    Palmoplantar keratoderma (PPK) is a frequent hereditary disorder of keratinization in man. Various clinically, histopathologically, and genetically distinct phenotypes can be diagnosed. Recently, we have identified mutations in the keratin 9 gene on chromosome 17q21 in a number of patients with the epidermolytic form of palmoplantar keratoderma (EPPK). We have now investigated three large families with clinically different types of PPK for linkage to either the type II keratin gene cluster on chromosome 12q or the type I keratin gene cluster on chromosome 17q using microsatellites and polymorphisms in several keratin genes. One family each with diffuse PPK associated with carcinoma of the esophagus (type Clarke-Howel-Evans-McConnell), PPK associated with sensorineural hearing loss, and keratolytic winter erythema (Oudtshoorn skin disease) was analyzed. We were able to exclude both type I and type II keratin genes as candidate genes for all these genodermatoses. In addition, linkage to a number of further candidate regions could also be excluded in these three families; the gene for transglutaminase 1 on chromosome 14q11, chromosome 1q21 containing a cluster of genes encoding intermediate filament-associated and cell envelope-associated proteins, and chromosome 18q12 with several genes for desmosomal glycoproteins. These findings reveal that mutations in genes other than keratin genes can be involved in the etiology of hyperkeratosis of palms and soles. Thus, the clinical heterogeneity in PPK is mirrored by heterogeneity at the molecular level.

  4. A curious genetic coincidence found in a study of palmoplantar keratoderma.

    PubMed

    Gamborg Nielsen, P

    1983-01-01

    In a study of hereditary palmoplantar keratoderma of the Unna Thost variety in the northernmost county of Sweden (Norrbotten) a genetic coincident between this inherited disorder and the autosomal dominant form of ichthyosis vulgaris was found. In the same family a patient with ichthyosis vulgaris combined with palmoplantar hyperkeratosis and hyperkeratotic plaques on the knees and the elbows appeared.

  5. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

    PubMed

    Reis, A; Hennies, H C; Langbein, L; Digweed, M; Mischke, D; Drechsler, M; Schröck, E; Royer-Pokora, B; Franke, W W; Sperling, K

    1994-02-01

    We have isolated the gene for human type I keratin 9 (KRT9) and localised it to chromosome 17q21. Patients with epidermolytic palmoplantar keratoderma (EPPK), an autosomal dominant skin disease, were investigated. Three KRT9 mutations, N160K, R162Q, and R162W, were identified. All the mutations are in the highly conserved coil 1A of the rod domain, thought to be important for heterodimerisation. R162W was detected in five unrelated families and affects the corresponding residue in the keratin 14 and keratin 10 genes that is also altered in cases of epidermolysis bullosa simplex and generalised epidermolytic hyperkeratosis, respectively. These findings provide further evidence that mutations in keratin genes may cause epidermolysis and hyperkeratosis and that hyperkeratosis of palms and soles may be caused by different mutations in the KRT9 gene.

  6. Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.

    PubMed

    Austin Smith, Wallace; Cope, Austin; Fernandez, Martin; Parekh, Palak

    2016-01-01

    Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age.  Genotype analysis was performed on the newborn child who was found to harbor a mutation in the keratin 1 gene. This family demonstrates the phenotypic expression of PPK associated with keratin 1 gene mutations and illustrates the importance of genotype-phenotypecorrelation in this disorder. PMID:27617465

  7. Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.

    PubMed

    Kelsell, D P; Stevens, H P; Ratnavel, R; Bryant, S P; Bishop, D T; Leigh, I M; Spurr, N K

    1995-06-01

    The palmoplantar keratodermas (PPK) are a group of skin diseases characterized by thickening of the skin of the palms and soles due to abnormal keratinization. We have performed linkage analysis on families affected with three distinct forms of non-epidermolytic PPK (NEPPK): focal, diffuse and punctate. Genetic heterogeneity was demonstrated, with focal NEPPK linked to the region on chromosome 17 harbouring the type I keratin cluster, diffuse NEPPK linked to the region on chromosome 12 containing the type II keratin cluster, and in the punctate NEPPK pedigrees, linkage was excluded to both of these keratin clusters. This study provides evidence for genetic differences between these forms of NEPPK and also between NEPPK and epidermolytic PPK (EPPK) in which mutations in keratin 9 have been demonstrated.

  8. Hereditary epidermolytic palmoplantar keratoderma (Vörner type) in a family with Ehlers-Danlos syndrome.

    PubMed

    Mofid, M Z; Costarangos, C; Gruber, S B; Koch, S E

    1998-05-01

    We describe a kindred in whom epidermolytic palmoplantar keratoderma occurred in association with Ehlers-Danlos syndrome type III (benign hypermobility syndrome). This kindred consisted of 27 members of four generations, 14 of whom had palmoplantar keratoderma (PPK). Of those who had palmoplantar keratoderma, 6 had Ehlers-Danlos type III (EDS II). The proband presented with diffuse, symmetrical hyperkeratotic plaques that were yellow and sharply demarcated, covering the entire palms and soles, in addition to marked large and small joint flexibility and skin hyperextensibility. A biopsy specimen from the palm revealed features of epidermolytic hyperkeratosis with acanthosis. To our knowledge, this is the first report of PPK in a family with Ehlers-Danlos syndrome. Linkage analysis of these two clinical traits showed that the genes responsible for PPK and EDS III are not closely linked, and therefore are not immediately adjacent. However, linkage at greater genetic distances could not be excluded.

  9. Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden.

    PubMed

    Gamborg Nielsen, P

    1985-11-01

    A follow-up study of clinical and genetic observations, made on patients with hereditary palmoplantar keratoderma living in the northernmost county of Sweden (Norrbotten) in 1967, was performed. Two clinical types could be distinguished, a common form with an autosomal dominant mode of inheritance, corresponding to the description of the Unna Thost variety and a severe form with evidently an autosomal recessive inheritance. One of the patients with the severe form had a mutilating palmoplantar keratoderma. Neither employment nor dermatophytosis influenced the severity of the hyperkeratosis in any of these two types. Occurrence of hereditary palmoplantar keratoderma together with other genodermatoses of dermatoses with a polygenic mode of inheritance was also found in this study.

  10. Psoriasis and hereditary palmoplantar keratoderma complicated with a dermatophyte infection. Case report.

    PubMed

    Gamborg Nielsen, P

    1984-01-01

    In a 29-year-old woman suffering from hereditary palmoplantar keratoderma of the Unna Thost variety, psoriasis appeared at an age of 28 years. The keratoderma on the soles was complicated with a dermatophyte infection, which made the differential diagnosis towards psoriasis difficult. Histopathologic examination of punch biopsy from the soles showed no conclusive signs of psoriasis. An increased thickness of the horny layer, which in PAS staining showed fungus hyphae, was found.

  11. A case of spontaneous mutation in the keratin 9 gene associated with epidermolytic palmoplantar keratoderma.

    PubMed

    Morgan, V A; Byron, K; Paiman, L; Varigos, G A

    1999-11-01

    Epidermolytic palmoplantar keratoderma appears to be due to defects in keratin 9, the palmoplantar specific type 1 keratin. We report a case of spontaneous mutation, a C to T transition at codon 162, resulting in an arginine to tryptophan substitution in the 1 A region of the alpha helical rod domain of keratin 9. This provides further evidence that this codon is an important spot for mutation in keratin 9.

  12. Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.

    PubMed

    Navsaria, H A; Swensson, O; Ratnavel, R C; Shamsher, M; McLean, W H; Lane, E B; Griffiths, D; Eady, R A; Leigh, I M

    1995-03-01

    Palmoplantar keratoderma of Voerner type (or epidermolytic palmoplantar keratoderma) is an autosomal dominant inherited disorder of keratinization with histologic features of epidermolytic hyperkeratosis. We studied members of two large unrelated kindreds with epidermolytic palmoplantar keratoderma, and biopsy specimens of lesional palmar skin from both families confirmed the histologic changes of epidermolytic hyperkeratosis. Whorls of abnormally aggregated keratin filaments were seen ultrastructurally to be associated with signs of cellular disintegration in spinous and granular cells. Direct sequencing of genomic DNA samples obtained from several members of each family established the substitution of a highly conserved arginine by tryptophan (R162W) in the 1A region of the alpha-helical rod domain of keratin 9. This arginine residue in a highly conserved region of keratins 1 and 10 is affected by disruptive missense point mutations in many patients with bullous ichthyosiform erythroderma. An equivalent position in the sole and palm restricted keratin 9 appears to be the mutation hot spot in epidermolytic palmoplantar keratoderma. To date, R162W is the most prevalent genetic defect reported in this genodermatosis.

  13. The prevalence of dermatophyte infections in hereditary palmo-plantar keratoderma.

    PubMed

    Gamborg Nielsen, P

    1983-01-01

    The prevalence of dermatophyte infections in hereditary palmo-plantar keratoderma of the Unna Thost variety was investigated. Sixty patients, who represented 7.5% of a well defined population, participated in the study. The prevalence was found to be about 40%. At the same time the correlation between direct microscopic examination and conventional culture methods was shown to be 88.5%.

  14. Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred.

    PubMed

    Blanchet-Bardon, C; Nazzaro, V; Chevrant-Breton, J; Espie, M; Kerbrat, P; Le Marec, B

    1987-09-01

    We report a large kindred in which palmoplantar keratoderma occurred in association with breast or ovarian cancer or both. This kindred consisted of 61 members of four generations. Thirty-five individuals had palmoplantar keratoderma, including eight women who also had breast or ovarian cancer or both. Five of the six women with breast cancer and both the women with ovarian cancer have died. The proband presented with a yellowish, uniform hyperkeratosis surrounded by a red border covering the entire surface of the palms and soles. Light microscopic examination showed features of epidermolytic hyperkeratosis, and ultrastructural examination revealed the typical markers for this entity, cytolysis and clumps of keratin filaments. This kindred is the first, to our knowledge, to have an association of epidermolytic hyperkeratosis and internal malignancy.

  15. Dermatophytes and keratin in patients with hereditary palmoplantar keratoderma. A mycological study.

    PubMed

    Gamborg Nielsen, P; Faergemann, J

    1993-12-01

    Fourteen patients with hereditary palmoplantar keratoderma of the Unna Thost variety were included in the study. Dermatophytosis was found in 7 of the 14 patients. Six were affected with T. rubrum and one with T. mentagrophytes. The growth pattern of dermatophytes in keratin from the patients did not differ from that of normal control individuals. Keratin from patients with hereditary palmoplantar keratoderma was sterilized with ethylene gas and placed in the center of culture plates, previously broad inoculated with control dermatophytes or dermatophytes isolated from patients. An inhibition zone around the keratin was found in 42.9% of the control dermatophytes and in 83.4% of the patient cultures. The inhibition zone was only seen in cultures with T. rubrum and not in those with T. mentagrophytes. No significant difference in minimal inhibitory concentration values against ketoconazole between control dermatophytes and dermatophytes from patients was demonstrated.

  16. Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient.

    PubMed

    Antonio, João Roberto; Oliveira, Guilherme Bueno de; Rossi, Natalia Cristina Pires; Pires, Laiza Gabriela Garcia

    2014-01-01

    Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the histopathological findings. This diagnosis alerts especially about the possibility of associated neoplasms. Treatment involves topical keratolytic agents, usually with little efficacy, or with long-term systemic retinoids with follow-up of exuberant collateral effects. PMID:25184927

  17. Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient*

    PubMed Central

    Antonio, João Roberto; de Oliveira, Guilherme Bueno; Rossi, Natalia Cristina Pires; Pires, Laiza Gabriela Garcia

    2014-01-01

    Buschke-Fisher-Brauer keratoderma is a rare hereditary autosomal dominant disease of incomplete penetrance. Important differential diagnoses include other palmoplantar keratinization disorders, acquired or hereditary, which is done based on the histopathological findings. This diagnosis alerts especially about the possibility of associated neoplasms. Treatment involves topical keratolytic agents, usually with little efficacy, or with long-term systemic retinoids with follow-up of exuberant collateral effects. PMID:25184927

  18. Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

    PubMed

    Rothnagel, J A; Wojcik, S; Liefer, K M; Dominey, A M; Huber, M; Hohl, D; Roop, D R

    1995-03-01

    Epidermolytic palmoplantar keratoderma is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles. Ultrastructurally the disease exhibits abnormal keratin filament networks and tonofilament clumping like that found in the keratin disorders of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. The disease has been mapped to chromosome 17q11-q23 in the region of the type 1 keratin gene locus and more recently mutations have been found in the palmoplantar specific keratin, keratin 9. We have analyzed six unrelated incidences of epidermolytic palmoplantar keratoderma for mutations in their keratin 9 genes. In two of these, we have identified mutations that alter critical residues within the highly conserved helix initiation motif at the beginning of the rod domain of keratin 9. In a three-generation Middle Eastern kindred we found a C to T transition at codon 162 that results in an arginine to tryptophan substitution at position 10 of the 1A alpha-helical domain, thus confirming this codon as a hot spot for mutation in keratin 9. The other mutation found involves a T to C transition at codon 167 that results in the expression of a serine residue in place of the normal leucine at position 15 of the 1A segment and is the first documentation of this mutation in this gene. The identification of these substitutions extends the current catalog of disease causing mutations in keratin 9.

  19. Hereditary palmoplantar keratoderma and dermatophytosis in the northernmost county of Sweden (Norrbotten).

    PubMed

    Nielsen, P G

    1994-01-01

    Clinical reports of hereditary palmoplantar keratoderma are generally based on a limited number of patients. In 1967 the prevalence in the northernmost county of Sweden (Norrbotten) was shown to be 0.55%. In 1982 it was possible to trace half of the original propositi from that study. Among these families, a severe clinical form with a presumed recessive inheritance could be distinguished. The clinical pictures in relatives of the original propositi were described, and other diseases were listed together with those in patients from previously performed studies. The frequency of dermatophytosis was 36.2%, which was equal to a prevalence of 37.6%. T. mentagrophytes occurred significantly more often and immunological factors, such as increased presence of blood group A, specific dermatophyte IgG antibodies, precipitating antibodies and an immunological in vitro reaction to keratin, supported differences in the distribution of dermatophytes. However, the amount of keratin was considered the most important factor for the affinity of dermatophytes to the palms and soles. A vesicular eruption along the hyperkeratotic border and a mononuclear cell infiltrate were often reported. Such reactions were interpreted as immunological reactions to dermatophytosis. Scaling and fissuring were considered clinical signs of dermatophyte infections and not a part of the originally reported clinical picture. Results of the histopathological study corresponded to previously reported descriptions of the Unna-Thost variety. However, it has recently been reported that the histopathological picture of this variety was based on histopathological features of epidermolytic palmoplantar keratoderma. The existence on the Continent of the Unna-Thost variety was therefore questioned. Histopathological features of epidermolytic palmoplantar keratoderma were not found in the County of Norrbotten and the designation "Diffuse HPPK type Norrbotten" has therefore been proposed. The histopathological

  20. Hereditary epidermolytic palmoplantar keratoderma (Vörner type). Report of a familial case and review of the literature.

    PubMed

    Kanitakis, J; Tsoitis, G; Kanitakis, C

    1987-09-01

    A recent familial case of hereditary epidermolytic palmoplantar keratoderma (Vörner type) that was treated with orally administered etretinate is reported herein. A review of the literature with regard to the clinical, genetic, and laboratory features of this rare genodermatosis is also presented.

  1. Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.

    PubMed

    Lopez-Valdez, Jaime; Rivera-Vega, Maria Refugio; Gonzalez-Huerta, Luz Maria; Cazarin, Jorge; Cuevas-Covarrubias, Sergio

    2013-01-01

    Epidermolytic palmoplantar keratoderma (EPPK), an autosomal-dominant genodermatosis, is the most frequently occurring hereditary palmoplantar keratoderma. EPPK is characterized by hyperkeratosis of the palms and soles. Approximately 90% of patients present with mutations in the KRT9 gene, which encodes for keratin 9. Many of these mutations are located within the highly conserved coil 1A region of the alpha-helical rod domain of keratin 9, an important domain for keratin heterodimerization. The objective was to assess the clinical and molecular characteristics of a Mexican family with EPPK. The clinical characteristics of members of this family were analyzed. The KRT9 gene of affected members was polymerase chain reaction amplified from genomic DNA and sequenced. All affected members of the family had hyperkeratosis of the palms and soles with knuckle pads. The R163W mutation in the KRT9 gene was present in all affected individuals who were tested. Although R163W is the most frequent KRT9 mutation in patients with EPPK, only two families have been reported with knuckle pads associated with this mutation. Our findings indicate that knuckle pads can be associated with EPPK and the R163W mutation in a family with a genetic background different from that described here.

  2. Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma.

    PubMed

    Szalai, S; Szalai, C; Becker, K; Török, E

    1999-01-01

    The palmoplantar keratodermas (PPK) are a heterogeneous group of conditions, most frequently inherited in autosomal dominant fashion. A few are well-documented autosomal recessive disorders; other are acquired in association with certain metabolic disorders and malignancies. Recently different point mutations of the keratin 9 (K9) gene have been identified in unrelated families with epidermolytic palmoplantar keratoderma (EPPK). We investigated two unrelated Hungarian families with EPPK. In one, a mutation consisting of a G-->A transversion at nucleotide position 551, which changes codon arginine to glutamine at codon 162 (R162Q), was found. In the other, we observed a novel mutation at nucleotide position 571, which changes codon 169 lysine (AAG) into the amber stop codon (TAG) (K169X). Each found mutation is present in the highly conserved coil 1A region of the rod domain. In the case of a stop codon type of mutation, it is questionable whether it really results in a clinical phenotype, but segregation analysis revealed cosegregation of the PPK phenotype with the mutant allele.

  3. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

    PubMed

    Terron-Kwiatkowski, Ana; Paller, Amy S; Compton, John; Atherton, David J; McLean, W H Irwin; Irvine, Alan D

    2002-10-01

    Mutations in keratin 1 were initially described in the classical form of bullous congenital ichthyosiform erythroderma (also known as epidermolytic hyperkeratosis). More recently the range of phenotypes associated with mutations in this gene has been extended to include annular ichthyosiform erythroderma and mild epidermolytic palmoplantar keratoderma. Here we present two novel mutations in the keratin 1 gene (KRT1): a 5' donor splice site mutation in exon 1 (591 + 2T > A) that predicts a 22 amino acid in-frame deletion in the keratin 1 1A domain; and an in-frame deletion in exon 7 (1376del24) that predicts a foreshortened 2B coiled-coil domain of keratin 1. In each case these mutations are associated with palmoplantar keratoderma and mild ichthyosis, largely limited to the flexural areas. These mutations appear to have a less damaging effect than previously reported mis-sense mutations sited in the helix boundary motifs. This report extends the range of phenotypes associated with mutations in KRT1.

  4. Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).

    PubMed

    Bousfiha, A; Bakhchane, A; Elrharchi, S; Dehbi, H; Kabine, M; Nadifi, S; Charoute, H; Barakat, A

    2016-01-01

    Mutations in the GJB2 gene encoding connexin 26 are the main cause of hereditary hearing impairment. These mutations generate mainly autosomal recessive and rarely autosomal dominant deafness. Dominant mutations in GJB2 can be responsible for isolated deafness as well as syndromic hearing loss associated with various skin abnormalities. Until now few papers discuss dominant mutations in the GJB2 gene. In this work we report a rare case about a Moroccan family with a compound heterozygous mutation (the dominant p.R75Q and the recessive c.35delG alleles) in the GJB2 gene with intra-familial phenotypic variability. This study reinforces the involvement of p.R75Q mutation of GJB2 in syndromic deafness associated with dermatological diseases the palmoplantar keratoderma. PMID:27316387

  5. Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.

    PubMed

    Warmuth, I; Cserhalmi-Friedman, P B; Schneiderman, P; Grossman, M E; Christiano, A M

    2000-05-01

    Epidermolytic palmoplantar keratoderma (EPPK) is a localized keratinization disorder caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We present a Hispanic pedigree spanning three generations, with affected individuals in all generations. Using polymerase chain reaction amplification and direct sequencing we demonstrated a previously reported missense mutation in KRT9, which is expressed almost exclusively in the skin of palms and soles. The C-->T missense mutation R162W changes a basic amino acid (arginine) to a neutral amino acid (tryptophan). We describe this mutation in a Hispanic pedigree with EPPK for the first time, extending the finding of this mutation in other genetic backgrounds, and demonstrating the prevalence of this mutation in diverse populations.

  6. De novo mutation of keratin 9 gene in two Taiwanese patients with epidermolytic palmoplantar keratoderma.

    PubMed

    Yang, Mei-Hui; Lee, Julia Yu-Yun; Lin, Jeng-Hsien; Chao, Sheau-Chiou

    2003-07-01

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant hereditary disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (K9). We report 2 unrelated sporadic cases of EPPK in Taiwanese, confirmed by histopathology and electron microscopy. A de novo mutation with a C to T transition at the first nucleotide of codon 162 in K9 was detected in both patients, but not in their parents. The mutation is expected to result in an arginine to tryptophan substitution (R162W) in the beginning region of the alpha-helical 1A domain of K9. Mutations in this region could disrupt keratin filament assembly, leading to degeneration or cytolysis of keratinocytes. Mutations of this arginine codon (R162W, R162Q) are common in pedigrees with EPPK. Our mutation analysis suggests that codon 162 in K9 gene is an important hot spot for mutation in EPPK.

  7. Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9.

    PubMed

    Fuchs-Telem, D; Padalon-Brauch, G; Sarig, O; Sprecher, E

    2013-03-01

    Epidermolytic palmoplantar keratoderma (EPPK) is caused by mutations in KRT9 and less often, KRT1. All known mutations in KRT9 have been found in regions of the gene encoding the conserved central α-helix rod domain. In the present study, we investigated the molecular basis of EPPK in a patient of Ashkenazi Jewish origin. The patient was found to carry a novel missense mutation in KRT9, resulting in the substitution of a poorly conserved leucine for valine at position 11 of the amino acid sequence. Despite its unusual location, the mutation was shown to be pathogenic through activation of a cryptic donor splice site, resulting in the deletion of 162 amino acids. The present data indicate the need to screen keratin genes in their entirety, as mutations altering domains of lesser functional importance may exert their deleterious effect at the transcriptional level.

  8. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

    PubMed

    Hennies, H C; Zehender, D; Kunze, J; Küster, W; Reis, A

    1994-06-01

    Mutations in the human keratin 9 gene have recently been shown to be involved in the etiology of palmoplantar keratoderma (PPK). We have investigated eleven unrelated German kindreds with the epidermolytic variant of PPK (EPPK) for mutations in the keratin 9 gene. We have identified two novel mutations, M156V and Q171P, both in the coil 1A segment of keratin 9. Mutation M156V was detected in two unrelated patients with EPPK, and mutation Q171P was shown to cosegregate with the disease in a large four-generation family. These findings confirm the functional importance of coil 1A integrity for heterodimerisation in keratins and for intermediate filament assembly. Our results provide further evidence for mutational heterogeneity in EPPK, and for the involvement of keratins in diseases of hyperkeratinisation and epidermolysis.

  9. A keratin 9 Gene mutation (Asn160Ser) in a Japanese patient with epidermolytic palmoplantar keratoderma.

    PubMed

    Tsunemi, Yuichiro; Hattori, Naoko; Saeki, Hidehisa; Adachi, Makoto; Komine, Mayumi; Nakagawa, Hidemi; Tamaki, Kunihiko

    2002-12-01

    We described a 5-year-old Japanese girl with epidermolytic palmoplantar keratoderma and examined her for a keratin 9 gene mutation. Physical examination disclosed diffuse yellowish hyperkeratosis with an erythematous border limited strictly to the palms and soles. Histological examination revealed hyperkeratosis with vacuolar degeneration in the spinous and granular layers of the epidermis. Sequence analysis demonstrated an A to G transition at the middle position of codon 160 in the 1A domain of the keratin 9 gene. The amino acid at codon 160 was deduced to have changed from asparagine (Asn) to serine (Ser). This is the first case with an Asn160Ser mutation in a Japanese. The substitution of Ser for Asn at codon 160 of the keratin 9 gene is assumed to be fatal for keratin filament assembly regardless of race or ethnicity.

  10. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

    PubMed

    Lu, Yong; Guo, Chenhong; Liu, Qiji; Zhang, Xiyu; Cheng, Lin; Li, Jiangxia; Chen, Bingxi; Gao, Guimin; Zhou, Haibin; Guo, Yishou; Li, Yefu; Gong, Yaoqin

    2003-07-30

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom-knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.

  11. Dermatophyte infections in hereditary palmo-plantar keratoderma. Frequency and therapy.

    PubMed

    Gamborg Nielsen, P

    1984-01-01

    The frequency of dermatophyte infections in hereditary palmo-plantar keratoderma ( HPPK ) of the Unna - Thost variety was investigated in 280 patients admitted to the Department of Dermatology, Central Hospital, Boden , during 1977-1981, and was found to be 35.0%. The distribution of fungi did not differ from that found for the total number of dermatophytes. An almost complete therapeutical resistance was found especially in Trichophyton rubrum infections, when patients were treated with micronized griseofulvin and topical econazole cream. Treatment of dermatophyte infections in HPPK with 50% propylene glycol in distilled water gave poor results but when 1% econazole nitrate was added negative cultures were found in 86.4% of the patients treated for 3 weeks.

  12. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.

    PubMed

    Bergman, Reuven; Khamaysi, Ziad; Sprecher, Eli

    2008-04-01

    Hereditary skin diseases that are characterized ultrastructurally by intracellular clumpings of keratin tonofilaments, such as Darier disease and Ichthyosis Hystrix of Curth-Macklin, display epidermal dyskeratosis also histologically. Epidermolytic hyperkeratosis (EHK) and epidermolytic palmoplantar keratoderma (Voerner type) (EPPK) are 2 types of autosomal dominant keratodermas, which are also characterized ultrastructurally by intracellular clumpings of tonofilaments but usually without a clear description of histological dyskeratosis. The main aim of the present study was to characterize the histologic signs of keratin aggregation and clumping in the involved epidermis of EHK and EPPK. Two cases of EHK caused by KRT1 mutations and 4 cases of EPPK caused by KRT9 mutations were studied. The biopsies were obtained mostly from the involved skin of the palm. All 6 biopsies were studied histologically, and 4 biopsies (2 EHKs and 2 EPPKs) were also studied ultrastructurally. All 6 cases displayed the characteristic histological epidermolytic changes. In addition, intracytoplasmic and perinuclear eosinophilic homogenizations and round to oval eosinophilic inclusions were identified with varying frequencies in the involved epidermis of all 6 cases. These findings, which were more prominent in the EHK cases, corresponded most likely to the intracytoplasmic aggregates of tonofilaments and to the large round to oval dense clumps of tonofilaments, which were observed ultrastructurally. In conclusion, varying degrees of dyskeratosis are frequently present in EHK and EPPK and should be considered to be a histological characteristic of these disorders.

  13. Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.

    PubMed

    Lee, Joo-Heung; Ahn, Kwang-Sung; Lee, Cha-Hui; Youn, Seong-Jae; Kim, Jong-Wook; Lee, Dong-Youn; Lee, Eil-Soo; Steinert, Peter M; Yang, Jun-Mo

    2003-12-01

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized clinically by localized palmoplantar thickening and histopathologically by granular degeneration of the epidermis. Recent molecular biological studies have revealed that EPPK is caused by mutations of the keratin 9 gene in sequences mainly encoding the highly conserved 1 A rod domain. Here we demonstrate a novel mutation of N160H (position 8 of the 1 A domain) and two other previously reported mutations, R162W and N160S, in five unrelated Korean families with EPPK. The three-dimensional structure of the 1 A domain of the related vimentin intermediate filament protein chain is now known. Based on its likely similarity to the keratin 9 chain, we predict that inappropriate amino acid substitutions in position 10 of 1 A will likely interfere with coiled-coil dimer stability, and those in position 8 will interfere with tetramer stability. Accordingly, these mutations compromise the structural integrity of the keratin intermediate filaments leading to the pathology of EPPK.

  14. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

    PubMed

    Covello, S P; Irvine, A D; McKenna, K E; Munro, C S; Nevin, N C; Smith, F J; Uitto, J; McLean, W H

    1998-12-01

    Epidermolytic palmoplantar keratoderma (EPPK, MIM #144200) is an autosomal dominant disorder in which hyperkeratosis confined to the palms and soles is characterized histologically by cytolysis of suprabasal keratinocytes. Mutations in the keratin 9 gene (KRT9), a type 1 keratin expressed exclusively in the suprabasal keratinocytes of palmoplantar epidermis, have previously been demonstrated in this disorder. Here, we have studied four Northern Irish kindreds presenting with EPPK. By direct sequencing of polymerase chain reaction products, heterozygous missense mutations in exon 1 of KRT9 were detected in all the families. These included a novel mutation M156T; as well as M156V in two kindreds; and R162Q in the remaining family. All mutations were confirmed by reverse strand sequencing and restriction enzyme analysis. The point prevalence of EPPK in Northern Ireland was found to be 4.4 per 100,000. To date, all reported EPPK mutations occur in the helix initiation motif at the start of the central coiled-coil rod domain of K9.

  15. Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma

    PubMed Central

    Shimomura, Y.; Wajid, M.; Weiser, J.; Kraemer, L.; Christiano, A. M.

    2010-01-01

    Background Keratins are heteropolymeric proteins that form the intermediate filament cytoskeleton in epithelial cells. The common basic structure of all keratins is organized in a central α-helical rod domain flanked by nonhelical, variable head and tail regions. Most mutations in keratins are found in the central α-helical rod domain. Keratin 9 (K9) is expressed only in the suprabasal layers of palmoplantar epidermis. Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to palms and soles and histologically by epidermolysis in suprabasal layers of the epidermis. Aim To elucidate the genetic basis of EPPK in five Pakistani families. Methods Using microsatellite markers localized to the areas around the type I keratin gene cluster on chromosome 17q21, genotyping of these families was performed, followed by sequencing of the KRT9 gene. Results The analysis resulted in the identification of two novel (p.M157K and p.Y454H) and two recurrent (p.M157T and p.R163Q) mutations in the KRT9 of all five families. All mutations occurred within the highly conserved helix initiation or termination motif of K9. Conclusion The affected members of all five families possess mutations in the KRT9 gene that severely affect heterodimer formation with the type II keratin partner. The results of our study further underscore the crucial role of K9 protein in the palmoplantar epidermis. PMID:19874353

  16. Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.

    PubMed

    Codispoti, Andrea; Colombo, Enrico; Zocchi, Loredana; Serra, Valeria; Pertusi, Ginevra; Leigheb, Giorgio; Tiberio, Rossana; Bornacina, Guido; Zuccoli, Riccardo; Ramponi, Antonio; Campione, Elena; Melino, Gerry; Terrinoni, Alessandro

    2009-01-01

    Epidermolytic PalmoPlantar keratoderma (EPPK) Vörner-type is an autosomal dominantly inherited skin disease, characterized by severe thickening of the palms and soles, caused by mutations in the keratin K9 (KRT9) gene. To date, a number of KRT9 mutations have been detected, most of which affect the highly conserved 1A region of the central alpha-helical domain, important for keratin heterodimerization. The most common mutation is the substitution of the arginine in position 163 with a tryptophan (R163W), which has been reported in North American, European, and Japanese populations. In a small number of cases, EPPK is associated with knuckle pad keratosis, but no correlation between this additional phenotype and a specific mutation has been found. Moreover, K9 is not normally expressed in knuckle skin, raising the question of the pathogenic mechanism leading to this additional phenotype. Here we show that in a family affected by EPPK and knuckle pad keratosis, carrying the R163W substitution, wild type (wt) and mutated K9 are strongly expressed in knuckle pads. These results suggest that the knuckle pad phenotype is due to ectopical expression of K9.

  17. The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten).

    PubMed

    Gamborg Nielsen, P; Hofer, P A; Lagerholm, B

    1994-01-01

    The frequency of autosomal dominant inherited palmoplantar keratoderma (HPPK) in the northernmost county of Sweden (Norrbotten) is 0.55%. Histopathological examination of 91 biopsies from patients with the dominant form of HPPK revealed no case of epidermolytic PPK. This finding is in contrast to the results of a re-examination of descendants of the original family published by Thost which showed the characteristic features of epidermolytic PPK, and re-evaluation of biopsies from other families has shown that it is the most frequent type. The existence of PPK type Unna-Thost in relation to epidermolytic PPK and to HPPK of the northernmost county of Sweden will be discussed. At the same time a revision of designation of this type is proposed. A dermo-epidermal mononuclear cell infiltrate belongs to the classical description of PPK Unna-Thost. It was shown that this cell infiltrate occurs significantly more often in patients with HPPK and dermatophytosis. Relapsing vesicular eruptions along the hyperkeratotic border are a clinical sign of the severity of dermatophyte infections. Such spongiotic vesicles together with a mononuclear cell infiltrate should be considered as eczematous reaction to dermatophytosis.

  18. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma.

    PubMed

    Endo, H; Hatamochi, A; Shinkai, H

    1997-07-01

    Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic hyperkeratosis histologically. We report herein a novel mutation, a C --> G transversion at nucleotide position 541 that converts a leucine residue (CTC) to a valine (GTC) at codon 159. As in all other reported cases of keratin 9 mutation in EPPK, this mutation lies within the highly conserved coil 1A of the rod domain, which is considered to play a role in the correct alignment of the coiled-coil molecules.

  19. Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.

    PubMed

    Terrinoni, Alessandro; Cocuroccia, Barbara; Gubinelli, Emanuela; Zambruno, Giovanna; Candi, Eleonora; Melino, Gerry; Girolomoni, Giampiero

    2004-01-01

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant skin disorder characterized by hyperkeratosis of the palms and soles associated with histologic findings of hyperkeratosis and epidermolysis. Ultrastructurally, there is vacuolization of the cytoplasm and abnormal keratin filament network with tonofilament clumping. EPPK is caused by mutations in the keratin 9 gene (KRT9), which is expressed exclusively in suprabasal keratinocytes of palmoplantar epidermis. The mutation R162W is the most frequent keratin 9 alteration reported in patients from different geographical areas. We present three unrelated Italian families affected by EPPK in which we confirmed the presence of the R162W mutation, by RT-PCR analysis followed by sequencing of the KRT9 gene, in all affected members. The finding of the same mutation in all patients, together with the previous reports of the disease, strongly suggest that position 162 of the KRT9 gene represents a mutation "hot-spot", probably due to the peculiarity of the sequence.

  20. Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

    PubMed Central

    Giehl, Kathrin A.; Eckstein, Gertrud N.; Pasternack, Sandra M.; Praetzel-Wunder, Silke; Ruzicka, Thomas; Lichtner, Peter; Seidl, Kerstin; Rogers, Mike; Graf, Elisabeth; Langbein, Lutz; Braun-Falco, Markus; Betz, Regina C.; Strom, Tim M.

    2012-01-01

    Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.21 have been reported. Pathogenic mutations, however, have yet to be identified. In order to elucidate the genetic cause of PPKP type Buschke-Fischer-Brauer (PPKP1), we performed exome sequencing in five affected individuals from three families, and we identified in chromosomal region 15q22.33-q23 two heterozygous nonsense mutations—c.370C>T (p.Arg124∗) and c.481C>T (p.Arg161∗)—in AAGAB in all affected individuals. Using immunoblot analysis, we showed that both mutations result in premature termination of translation and truncated protein products. Analyses of mRNA of affected individuals revealed that the disease allele is either not detectable or only detectable at low levels. To assess the consequences of the mutations in skin, we performed immunofluorescence analyses. Notably, the amount of granular staining in the keratinocytes of affected individuals was lower in the cytoplasm but higher around the nucleus than it was in the keratinocytes of control individuals. AAGAB encodes the alpha-and gamma-adaptin-binding protein p34 and might play a role in membrane traffic as a chaperone. The identification of mutations, along with the results from additional studies, defines the genetic basis of PPKP1 and provides evidence that AAGAB plays an important role in skin integrity. PMID:23000146

  1. 2 Cases of hereditary palmoplantar keratoderma. An abnormality of keratohyalin granules and keratin fibril formation.

    PubMed

    Tezuka, T

    1984-01-01

    2 cases of hereditary palmoplantar keratoderma (Unna-Thost type and keratosis palmoplantaris striata s. linearis type) are reported. In the former, moderate hyperkeratosis and a partial decrease in the stratum granulosum were histologically seen. Keratohyalin granules in the uppermost cell layer of the stratum granulosum were positively stained with the Pauly reagent, though the stratum granulosum consisted of three of four cell layers in the hematoxylin-eosin-stained specimen. Electron microscopically, keratohyalin granules in the lower two or three cell layers of the stratum granulosum were less electron-dense than normal and were granular in appearance, but those in the uppermost cell layer were normal in electron density and in appearance. This case indicates that human keratohyalin granules could consist of a less electron-dense component and an electron-dense amorphous component, and the Pauly-positive substance could be electron-dense and amorphous, and the basophilic material in the hematoxylin-eosin specimen could be less electron-dense and granular under electron microscopy. In the latter, remarkable orthokeratotic hyperkeratosis and hypergranulosis were observed. Electron microscopically, three kinds of keratohyalin-like granules were observed: (1) less electron-dense granules, the electron density of which was equivalent to that of the peripheral region of the nucleus; (2) normally electron-dense amorphous granules attached to the first type of granule, and (3) extremely less electron-dense granules with a finely granular appearance. The diameter of this finely granular material was around 21 nm and a fibrous structure was also observed in or attached to this granule.

  2. Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma.

    PubMed

    Feng, Wenhua; Han, Weitian; Man, Xiaohui; Jiang, Miao; Bian, Chaoying; Wang, Ge; Li, Xuefu; Yi, Dongxu; Li, Jianxin

    2008-01-01

    We present a family from Northeast China affected by epidermolytic palmoplantar keratoderma (EPPK) in which we confirmed the presence of the N161S mutation as the result of a 548A>G transition in exon1 of the keratin 9 gene. Genomic DNA from peripheral blood of all available members in this family was used for amplification of exon 1 of KRT9 by polymerase chain reaction. The mutation was detected by direct sequence analysis and identified by restriction endonuclease DdeI digestion. The finding of the same mutation in all available patients, together with the previous reports of the disease, strongly suggested that position 161 of the KRT9 gene also represents a mutation "hotspot" for EPPK. Our result is an important contribution to the investigation of the genotype/phenotype correlation and affords molecular genetic knowledge for future clinical diagnosis and gene therapy of EPPK.

  3. A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.

    PubMed

    Lin, J-H; Lin, M-H; Yang, M-H; Chao, S-C

    2004-05-01

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited disorder of keratinization. Recent molecular studies have shown that EPPK is caused by mutations in keratin 9 gene (KRT9). We report a Taiwanese family with EPPK with a novel mutation with an A-->C transition at the first nucleotide of codon 160 in KRT9. The mutation is predicted to result in an asparagine to histidine substitution (N160H) at the beginning of the alpha-helical 1A domain of keratin 9. Mutations in this region could disrupt keratin filament assembly, leading to degeneration or cytolysis of keratinocytes. Our mutation analysis confirms that codon 160 in KRT9 is one of the mutation hot spots in EPPK.

  4. A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma.

    PubMed

    Kon, Atsushi; Itagaki, Kae; Yoneda, Kozo; Takagaki, Keiichi

    2005-02-01

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited skin disorder characterized by hyperkeratosis of the skin over the palms and soles. Mutations in keratin 9 gene (KRT9) have been demonstrated in EPPK. In this study, we screened a Japanese family with EPPK for KRT9 mutation by polymerase chain reaction amplification of genomic sequences, followed by heteroduplex analysis and direct nucleotide sequencing. The mutation consisted of a G-to-C transversion at codon 162 in exon 1, which was located in the hot spot of the mutations that have been reported previously (R162Q and R162W). However, the amino acid substitution was proline for arginine (R162P) in the 1A rod domain, the highly conserved helix initiation motif of keratin 9. Our result illustrates the repertoire of KRT9 mutation underlying the occurrence of EPPK in a Japanese family and is an important contribution to the investigation of the genotype/phenotype correlation.

  5. Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.

    PubMed

    Guo, Y; Shi, M; Tan, Z P; Shi, X L

    2014-10-07

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four-generation family with EPPK and identified a p.R163W mutation of KRT9. We observed a decrease in the age of onset in three consecutive generations in the family of the proband, indicating possible genetic anticipation in this familial EPPK. Further studies are needed to elucidate the mechanisms of anticipation in EPPK.

  6. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.

    PubMed

    Ke, Hai-Ping; Jiang, Hu-Ling; Lv, Ya-Su; Huang, Yi-Zhou; Liu, Rong-Rong; Chen, Xiao-Ling; Du, Zhen-Fang; Luo, Yu-Qin; Xu, Chen-Ming; Fan, Qi-Hui; Zhang, Xian-Ning

    2014-08-01

    Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth. EPPK is generally caused by mutations of the KRT9 gene. More than 26 KRT9 gene mutations responsible for EPPK have been described (Human Intermediate Filament Database, www.interfil.org), and many of these variants are located within the highly-conserved coil 1A region of the α-helical rod domain of keratin 9. Unfortunately, there is no satisfactory treatment for EPPK. Thus, prenatal molecular diagnosis or pre-pregnancy diagnosis is crucial and benefits those affected who seek healthy descendants. In the present study, we performed amniotic fluid-DNA-based prenatal testing for three at-risk pregnant EPPK women from three unrelated southern Chinese families who carried the KRT9 missense mutations p.Arg163Trp and p.Arg163Gln, and successfully helped two families to bear normal daughters. We suggest that before the successful application of preimplantation genetic diagnosis (PGD), and noninvasive prenatal diagnosis of EPPK that analyzes fetal cells or cell-free DNA in maternal blood, prenatal genetic diagnosis by amniocentesis or chorionic villus sampling (CVS) offers a quite acceptable option for EPPK couples-at-risk to avoid the birth of affected offspring, especially in low- and middle-income countries.

  7. A new cardiac manifestation associated with woolly hair: report of two cases of woolly hair, palmoplantar keratoderma, and mitral valve regurgitation.

    PubMed

    Zandi, Soodabeh; Farajzadeh, Saeedeh

    2007-09-01

    Two siblings (a 24-year-old woman and a 14-year-old girl) with congenital woolly hair, epidermolytic palmoplantar keratoderma, and mitral valve regurgitation are described. An interesting additional feature in one of the patients (the 14-year-old girl) was posterior subcapsular cataract. The association of woolly hair and mitral valve regurgitation has not been reported previously. The occurrence of cataract in one of our patients is also a new ophthalmologic finding in this hair shaft anomaly.

  8. Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation.

    PubMed

    Küster, Wolfgang; Reis, André; Hennies, Hans Christian

    2002-08-01

    In 1901, Hans Vörner observed a family with a diffuse non-transgredient palmoplantar keratoderma of autosomal dominant inheritance. Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this disorder. We performed a follow-up study of the family originally seen by Vörner in 1901 with clinical, histopathological, and molecular investigations. Clinically, affected family members showed the typical diffuse keratoses over the entire surface of the palms and soles sharply bordered by red margins. A mycotic infection was additionally found in two patients examined. Histopathological investigations confirmed epidermolytic hyperkeratosis. Molecular studies revealed a novel mutation in keratin 9, N160I, in patients from the family. The mutation in the coil-1A domain is thought to have a dominant negative effect on the assembly of keratin intermediate filaments, explaining the dominant inheritance of the phenotype. These findings give further evidence that palmoplantar keratoderma of Vörner represents the same entity as palmoplantar keratoderma of Thost, which was recently re-evaluated in Thost's original family and shown to be caused by a similar mutation, R162 W, in the same segment of keratin 9.

  9. Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24

    PubMed Central

    Martinez-Mir, A; Zlotogorski, A; Londono, D; Gordon, D; Grunn, A; Uribe, E; Horev, L; Ruiz, I; Davalos, N; Alayan, O; Liu, J; Gilliam, T; Salas-Alanis, J; Christiano, A

    2003-01-01

    Background: The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous group known as palmoplantar keratodermas (PPK), for which only a few molecular defects have been described. A particular form of PPK, known as punctate PPK, has been described in a few large autosomal dominant pedigrees, but its genetic basis has yet to be identified. Aim: Identification of the gene for punctate PPK. Methods: Clinical examination and linkage analysis in three families with punctate PPK. Results: A genomewide scan was performed on an extended autosomal dominant pedigree, and linkage to chromosome 15q22–q24 was identified. With the addition of two new families with the same phenotype, we confirmed the mapping of the locus for punctate PPK to a 9.98 cM interval, flanked by markers D15S534 and D15S818 (maximum two point lod score of 4.93 at θ = 0 for marker D15S988). Conclusions: We report the clinical and genetic findings in three pedigrees with the punctate form of PPK. We have mapped a genetic locus for this phenotype to chromosome 15q22–q24, which indicates the identification of a new gene involved in skin integrity. PMID:14684683

  10. Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

    PubMed

    Terron-Kwiatkowski, Ana; van Steensel, Maurice A M; van Geel, Michel; Lane, E Birgitte; McLean, W H Irwin; Steijlen, Peter M

    2006-03-01

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by epidermolytic hyperkeratosis restricted to the palm and sole epidermis. The disorder is normally associated with dominant-negative mutations in the keratin 9 (K9) gene; however, a small number of cases have been reported where causative mutations were identified in the K1 gene. Here, we present two unrelated Dutch EPPK families with striking ultrastructural findings: tubular keratin structures in the cytoplasm of suprabasal cells. Similar structures were reported previously in a German EPPK family and were termed "tonotubular" keratin. After excluding the involvement of the K9 gene by complete sequencing, we identified a novel mutation, S233L, at the beginning of the 1B domain of K1 in both families. Protein expression studies in cultured cells indicated pathogenicity of this mutation. This is the first report of a genetic defect in this domain of K1. The unusual gain-of-function mutation points to a subtle role of the 1B domain in mediating filament-filament interactions with regular periodicity.

  11. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

    PubMed Central

    Courcet, Jean- Benoît; Elalaoui, Siham Chafai; Duplomb, Laurence; Tajir, Mariam; Rivière, Jean-Baptiste; Thevenon, Julien; Gigot, Nadège; Marle, Nathalie; Aral, Bernard; Duffourd, Yannis; Sarasin, Alain; Naim, Valeria; Courcet-Degrolard, Emilie; Aubriot-Lorton, Marie- Hélène; Martin, Laurent; Abrid, Jamal Eddin; Thauvin, Christel; Sefiani, Abdelaziz; Vabres, Pierre; Faivre, Laurence

    2015-01-01

    SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849G>A; p.Glu617Lys) in both affected individuals. Wound-healing assay showed that the patient's fibroblasts were better able than control fibroblasts to migrate. Following the identification of SASH1 heterozygous variants in dyschromatosis, we used reverse phenotyping to show that autosomal-recessive variants of this gene could be responsible for an overlapping but more complex phenotype that affected skin appendages. SASH1 should be added to the list of genes responsible for autosomal-dominant and -recessive genodermatosis, with no phenotype in heterozygous patients in the recessive form, and to the list of genes responsible for a predisposition to skin cancer. PMID:25315659

  12. Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma.

    PubMed

    Yang, J M; Lee, S; Kang, H J; Lee, J H; Yeo, U C; Son, I Y; Park, K B; Steinert, P M; Lee, E S

    1998-11-01

    Palmoplantar keratodermas (PPK) constitute a heterogeneous group of diseases marked by the thickening of palms and soles of affected individuals. They are divided into autosomal dominant and autosomal recessive groups by the mode of transmission. The autosomal dominantly transmitted group is further divided into epidermolytic (EPPK, Voerner) and non-epidermolytic (NEPPK, Unna-Thost) types according to the histopathologic findings. Recent development of molecular approaches has confirmed that EPPK and NEPPK are caused by the mutations in keratin 9 and 1 genes, respectively. We have studied three families of EPPK to find the mutation in the keratin 9 gene. DNA sequence analyses revealed single base changes in sequences encoding the highly conserved 1A rod domain segment of the keratin 9 gene in two of the three families. These mutations caused Arg (CGG) to Glu (CAG; R162Q) and Arg (CGG) to Try (TGG; R162W) substitutions. The same arginine position has been mutated in the keratin 10 gene in epidermolytic hyperkeratosis, the keratin 14 gene in epidermolysis bullosa simplex, and the keratin 9 gene in hereditary EPPK in Western patients. In this study we show that unrelated Korean patients have similar mutations.

  13. Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.

    PubMed

    Shuja, Zunaira; Li, Leping; Gupta, Shashank; Meşe, Gülistan; White, Thomas W

    2016-01-01

    Mutations in GJB2 (connexin [Cx]26) cause either deafness or deafness associated with skin diseases. That different disorders can be caused by distinct mutations within the same gene suggests that unique channel activities are influenced by each class of mutation. We have examined the functional characteristics of two human mutations, Cx26-H73R and Cx26-S183F, causing palmoplantar keratoderma (PPK) and deafness. Both failed to form gap junction channels or hemichannels when expressed alone. Coexpression of the mutants with wild-type Cx43 showed a transdominant inhibition of Cx43 gap junction channels, without reductions in Cx43 protein synthesis. In addition, the presence of mutant Cx26 shifted Cx43 channel gating and kinetics toward a more Cx26-like behavior. Coimmunoprecipitation showed Cx43 being pulled down more efficiently with mutant Cx26 than wild-type, confirming the enhanced formation of heteromeric connexons. Finally, the formation of heteromeric connexons resulted in significantly increased Cx43 hemichannel activity in the presence of Cx26 mutants. These findings suggest a common mechanism whereby Cx26 mutations causing PPK and deafness transdominantly influence multiple functions of wild-type Cx43. They also implicate a role for aberrant hemichannel activity in the pathogenesis of PPK and further highlight an emerging role for Cx43 in genetic skin diseases.

  14. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.

    PubMed

    Coleman, C M; Munro, C S; Smith, F J; Uitto, J; McLean, W H

    1999-03-01

    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by diffuse keratoderma, typically with an erythematous border. Histologically, palmoplantar epidermis shows suprabasal cytolysis and ultrastructurally, tonofilament aggregation with overlying epidermolytic hyperkeratosis. Mutations in the KRT9 gene, encoding keratin 9 (K9), a cytoskeletal protein expressed exclusively in suprabasal keratinocytes of palmoplantar epidermis, have been reported to cause EPPK. To date, all KRT9 defects reported in EPPK have been missense mutations in exon 1, which encodes the start of the alpha-helical rod domain. However, based on studies of other keratin disorders, it was postulated that mutations at the other end of the rod domain might also produce the EPPK phenotype. Here, we report the first mutation in the 2B domain of KRT9, 1362ins3, leading to an insertion of histidine in the helix termination motif of the K9 polypeptide. Insertional mutations have not been previously described in keratins. The phenotype of this case is similar to EPPK caused by 1A domain mutations, demonstrating that mutations in either of the helix boundary motif sequences of K9 are detrimental to keratin function and keratinocyte structure.

  15. Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost's family revisited 110 years later.

    PubMed

    Küster, W; Becker, A

    1992-01-01

    Palmoplantar keratoderma (PPK) type Unna-Thost is known to be the most common form of a hereditary disorder of keratinization of palms and soles. The disease is clinically identical with PPK type Vörner which is histologically characterized by epidermolytic hyperkeratosis. By reinvestigation of the family originally seen by Thost in 1880, the features of epidermolytic hyperkeratosis were found histologically confirming the diagnosis PPK of Vörner. This proves the identity of PPK type Thost with PPK of Vörner. Because of the histological variability of epidermolytic hyperkeratosis, detailed light and electron microscopic studies are necessary in cases of diffuse types of PPK.

  16. Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.

    PubMed

    Kelsell, D P; Stevens, H P; Purkis, P E; Talas, U; Rustin, M H; Leigh, I M

    1999-10-01

    Diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) belongs to the heterogeneous group of skin diseases characterized by thickening of the stratum corneum of the palms and soles (1). This autosomal dominant PPK is characterized by a diffuse pattern of palmar and plantar hyperkeratosis giving the affected areas a thickened yellowish appearance with a marked erythematous edge. Linkage of diffuse NEPPK to chromosome 12q11-q13 has been demonstrated in two independent reports (2, 3). In this study, we describe detailed haplotyping with microsatellite markers mapping to this chromosomal region in three diffuse NEPPK pedigrees from the south of England. Fine mapping of a previously identified recombination event and the identification of a common disease haplotype segregating in the three pedigrees places the diffuse NEPPK locus proximal to the type II keratin gene cluster.

  17. Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas.

    PubMed

    Stypczyńska, Ewa; Placek, Waldemar; Zegarska, Barbara; Czajkowski, Rafał

    2016-06-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C). Unna-Thost disease is the most common variety of hereditary PPK. Mutations in keratin 1 have been reported in Unna-Thost disease. We report 12 cases in which Unna-Thost disease was diagnosed. Genealogical study demonstrated that the genodermatosis was a familial disease inherited as an autosomal dominant disorder. Dermatological examination revealed yellowish hyperkeratosis on the palms and soles. Oral mucosa, teeth, and nails remained unchanged. Histopathological examination of the biopsy sample taken from the soles of the patients showed orthokeratotic keratosis, hypergranulosis, and acanthosis without epidermolysis. PMID:27477171

  18. Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas.

    PubMed

    Stypczyńska, Ewa; Placek, Waldemar; Zegarska, Barbara; Czajkowski, Rafał

    2016-06-01

    Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C). Unna-Thost disease is the most common variety of hereditary PPK. Mutations in keratin 1 have been reported in Unna-Thost disease. We report 12 cases in which Unna-Thost disease was diagnosed. Genealogical study demonstrated that the genodermatosis was a familial disease inherited as an autosomal dominant disorder. Dermatological examination revealed yellowish hyperkeratosis on the palms and soles. Oral mucosa, teeth, and nails remained unchanged. Histopathological examination of the biopsy sample taken from the soles of the patients showed orthokeratotic keratosis, hypergranulosis, and acanthosis without epidermolysis.

  19. A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.

    PubMed

    Du, Zhen-Fang; Wei, Wei; Wang, Yi-Fan; Chen, Xiao-Ling; Chen, Chun-Yue; Liu, Wen-Ting; Lu, Jia-Jun; Mao, Lian-Gen; Xu, Chen-Ming; Fang, Hong; Zhang, Xian-Ning

    2011-01-01

    Knuckle pads and camptodactyly are overlapping symptoms associated with many genetic and environmental factors. To the best of our knowledge, all reported cases of epidermolytic palmoplantar keratoderma (EPPK) with knuckle pads have been without accompanying camptodactyly. We here report a novel KRT9 mutation-EPPK family with combined knuckle pads and camptodactyly. All the EPPK-affected individuals in this southern Chinese pedigree suffered severe diffuse palmar and plantar hyperkeratosis including hyperhidrosis and cuticle splitting: 3 females presented EPPK only, 8 adult males had notably severe knuckle pads and camptodactyly as well as EPPK, and one 6-year-old boy manifested EPPK with knuckle pads. Haplotype analysis excluded the known candidate loci for camptodactyly and/or knuckle pad-like phenotypes on chromosomes 13q12, 3q11.2-q13.12, 1q24-q25, 4p16.3 and 16q11.1-q22, while only the markers D17S1787 and D17S579 flanking KRT9 showed co-segregation with EPPK. Then a novel c.T1373C (p.L458P) mutation within the sixth exon of KRT9 was validated, and this mutation presented a more severe pathogenicity than the previously reported p.L458F. We speculated that KRT9 plays a complicated role in the genesis of EPPK with knuckle pads and camptodactyly, which needs to be further investigated.

  20. The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.

    PubMed

    Liu, Wen-Ting; Ke, Hai-Ping; Zhao, Yan; Chen, Xiao-Ling; Lu, Jia-Jun; Du, Zheng-Fang; Yu, Dan; Zhang, Xian-Ning

    2012-04-01

    Epidermolytic palmoplantar keratoderma (EPPK) is generally associated with dominant-negative mutations of the Keratin 9 gene (KRT9), and rarely with the Keratin 1 gene (KRT1). To date, a myriad of mutations has been reported with a high frequency of codon 163 mutations within the first exon of KRT9 in different populations. Notably, a distinct phenotypic heterogeneity, digital mutilation, was found recently in a 58-year-old female Japanese EPPK patient with p.R163W. Here, we report the most common mutation, c.C487T (p.R163W) of KRT9, in two large EPPK pedigrees from southeast China. The arginine residue in peptide position 163 remains almost constant in at least 47 intermediate filament proteins ranging from snail to human. A substitution in arginine alters both the charge and shape of the 1A rod domain and disrupts the function of the helix initiation motif of keratins, finally compromising the integrity of filaments and weakening their stability in the epidermis of palms and soles. We summarize the clinical symptoms of EPPK in Chinese and show that knuckle pads are associated with KRT9 mutations. We suggest that the frequency of p.R163W in Chinese EPPK patients (31.03%) is consistent with that in the general population (29.33%), and that codon 163 is truly a hotspot mutational site of KRT9.

  1. A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy.

    PubMed

    Lyu, Ya-Su; Shi, Pei-Liang; Chen, Xiao-Ling; Tang, Yue-Xiao; Wang, Yan-Fang; Liu, Rong-Rong; Luan, Xiao-Rui; Fang, Yu; Mei, Ru-Huan; Du, Zhen-Fang; Ke, Hai-Ping; Matro, Erik; Li, Ling-En; Lin, Zhao-Yu; Zhao, Jing; Gao, Xiang; Zhang, Xian-Ning

    2016-03-22

    Epidermolytic palmoplantar keratoderma (EPPK) is a relatively common autosomal-dominant skin disorder caused by mutations in the keratin 9 gene (KRT9), with few therapeutic options for the affected so far. Here, we report a knock-in transgenic mouse model that carried a small insertion-deletion (indel) mutant of Krt9, c.434delAinsGGCT (p.Tyr144delinsTrpLeu), corresponding to the human mutation KRT9/c.500delAinsGGCT (p.Tyr167delinsTrpLeu), which resulted in a human EPPK-like phenotype in the weight-stress areas of the fore- and hind-paws of both Krt9(+/mut) and Krt9(mut/mut) mice. The phenotype confirmed that EPPK is a dominant-negative condition, such that mice heterozygotic for the K9-mutant allele (Krt9(+/mut)) showed a clear EPPK-like phenotype. Then, we developed a mutant-specific short hairpin RNA (shRNA) therapy for EPPK mice. Mutant-specific shRNAs were systematically identified in vitro using a luciferase reporter gene assay and delivered into Krt9(+/mut) mice. shRNA-mediated knockdown of mutant protein resulted in almost normal morphology and functions of the skin, whereas the same shRNA had a negligible effect in wild-type K9 mice. Our results suggest that EPPK can be treated by gene therapy, and this has significant implications for future clinical application.

  2. A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy

    PubMed Central

    Lyu, Ya-Su; Shi, Pei-liang; Chen, Xiao-Ling; Tang, Yue-Xiao; Wang, Yan-Fang; Liu, Rong-Rong; Luan, Xiao-Rui; Fang, Yu; Mei, Ru-Huan; Du, Zhen-Fang; Ke, Hai-Ping; Matro, Erik; Li, Ling-En; Lin, Zhao-Yu; Zhao, Jing; Gao, Xiang; Zhang, Xian-Ning

    2016-01-01

    Epidermolytic palmoplantar keratoderma (EPPK) is a relatively common autosomal-dominant skin disorder caused by mutations in the keratin 9 gene (KRT9), with few therapeutic options for the affected so far. Here, we report a knock-in transgenic mouse model that carried a small insertion–deletion (indel) mutant of Krt9, c.434delAinsGGCT (p.Tyr144delinsTrpLeu), corresponding to the human mutation KRT9/c.500delAinsGGCT (p.Tyr167delinsTrpLeu), which resulted in a human EPPK-like phenotype in the weight-stress areas of the fore- and hind-paws of both Krt9+/mut and Krt9mut/mut mice. The phenotype confirmed that EPPK is a dominant-negative condition, such that mice heterozygotic for the K9-mutant allele (Krt9+/mut) showed a clear EPPK-like phenotype. Then, we developed a mutant-specific short hairpin RNA (shRNA) therapy for EPPK mice. Mutant-specific shRNAs were systematically identified in vitro using a luciferase reporter gene assay and delivered into Krt9+/mut mice. shRNA-mediated knockdown of mutant protein resulted in almost normal morphology and functions of the skin, whereas the same shRNA had a negligible effect in wild-type K9 mice. Our results suggest that EPPK can be treated by gene therapy, and this has significant implications for future clinical application. PMID:27003758

  3. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

    PubMed

    Reis, A; Küster, W; Eckardt, R; Sperling, K

    1992-01-01

    Epidermolytic palmoplantar keratoderma (EPPK) (Vörner-Unna-Thost) is an autosomal dominantly inherited skin disease of unknown etiology characterized by diffuse severe hyperkeratosis of the palms and soles and, histologically, by cellular degeneration. We have mapped a gene for EPPK to chromosome 17q11-q23, with linkage analysis using microsatellite DNA-polymorphisms, in a single large family of 7 generations. A maximum lod score of z = 6.66 was obtained with the probe D17S579 at a recombination fraction of theta = 0.00. This locus maps to the same region as the type I (acidic) keratin gene cluster. Keratins, members of the intermediate filament family, the major proteins of the cytoskeleton in epidermis, are differentially expressed in a tissue-specific manner. One acidic keratin, keratin 9 (KRT9), is expressed only in the terminally differentiated epidermis of palms and soles. The KRT9 gene has not yet been cloned; however, since the genes for most acidic keratins are clustered, it is highly probable that it too will map to this region. We therefore propose KRT9 as the candidate gene for EPPK.

  4. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.

    PubMed

    Li, M; Yang, L J; Hua, H-K; Zhu, X-H; Dai, X-Y

    2009-01-01

    Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.

  5. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer.

    PubMed

    Torchard, D; Blanchet-Bardon, C; Serova, O; Langbein, L; Narod, S; Janin, N; Goguel, A F; Bernheim, A; Franke, W W; Lenoir, G M

    1994-01-01

    Epidermolytic palmoplantar keratosis (EPPK) cosegregates with breast and ovarian cancers in a large French pedigree, raising the possibility that a single genetic mutation might cause these conditions and offering a potential lead to the identification of a hereditary breast/ovarian cancer gene. We have performed linkage analysis and show that the EPPK locus lies on the long arm of chromosome 17 near the type I keratin gene cluster and the proposed breast cancer gene (BRCA1). The type I keratin 9 gene has been partially sequenced in four affected individuals. A single base mutation within the rod domain of the protein cosegregates with EPPK in all affected individuals tested. Although inheritance of this mutation is likely responsible for EPPK, it is unlikely to be the cause of the breast and ovarian cancer.

  6. Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation.

    PubMed

    Madan, V; Gupta, U

    2006-01-01

    Tyrosinaemia type II (oculocutaneous tyrosinaemia or Richner-Hanhart syndrome) is a rare and potentially treatable genetic disorder. Corneal opacities or ulcers, circumscribed palmoplantar keratoderma and subnormal intelligence form the classical triad of this syndrome. A case with additional features of self-harm and diffuse plantar keratoderma is discussed. Emphasis is laid on the importance of early diagnosis and intervention in the form of dietary regulation to prevent the neurological signs and treat the oculocutaneous symptoms.

  7. Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis.

    PubMed

    Kastl, I; Anton-Lamprecht, I; Gamborg Nielsen, P

    1990-01-01

    A new kind of diffuse palmoplantar keratoderma with autosomal recessive inheritance and without associated symptoms was described in Norrbotten, Sweden by Gamborg Nielsen in 1985. Clinically, it ranges between the less severe dominant Unna-Thost type and the more severe recessive Meleda type, as it is milder than the latter. Skin biopsies of five patients from three different families with this new palmoplantar keratoderma, as well as five obligatory heterozygotes from one family, were investigated ultrastructurally in order to characterize this new entity and to differentiate it from the Meleda type. Several features are common to both autosomal recessive palmoplantar keratoses. They show a broadened granular layer, a transit region consisting of cells with a marginal envelope, and considerable hyperkeratosis. Morphologically, this transformation delay is less pronounced in the Gamborg Nielsen type than in the classical Meleda type. As is typical for ridged skin, both types of palmoplantar keratoses possess composite keratohyaline granules. In contrast to the normal appearance of keratohyaline granules in the Meleda type, the Gamborg Nielsen type also shows qualitative deviations of keratohyaline granules with different degrees of spongiosity and electron density and sometimes with a granular border. It seems that abnormal keratohyaline proteins are synthesized that behave differently. The sudden transformation of a granular into a horny cell is physiologically regulated by different enzymes. A delay in this process may be caused by a mutation that reduces or alters the enzymes concerned. We assume the palmoplantar keratoderma of the Gamborg Nielsen type to be a variant of the heterogeneous group of the Meleda type of palmoplantar keratoderma with autosomal recessive inheritance.

  8. Palmoplantar keratoses and Bowen's disease in a Vietnam veteran: Could Agent Blue be implicated?

    PubMed

    Cognetta, Armand B; Wolfe, Christopher M; Herbst, Alexander T

    2016-05-01

    Agent Blue was an arsenical herbicide used extensively in the Vietnam War. Arsenic is one of the known causes of acquired palmoplantar keratoderma (PPK). The most common manifestation of arsenic exposure in susceptible individuals is bilateral palmoplantar hyperkeratosis. We report a 67-year-old man with no known prior exposure to arsenic in the USA or family history of PPK who developed multiple squamous cell carcinoma in situ (SCCIS) and palmoplantar hyperkeratotic lesions beginning 23 years after service in Vietnam. The SCCIS were located on the trunk and extremities in both sun-exposed and non-sun-exposed sites and his palmoplantar lesions were diagnosed concurrently with his SCCIS. He has continued to develop SCCIS since his first visit to our clinic 25 years ago. PMID:26299801

  9. Genetics Home Reference: keratoderma with woolly hair

    MedlinePlus

    ... Conditions keratoderma with woolly hair keratoderma with woolly hair Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Keratoderma with woolly hair is a group of related conditions that affect ...

  10. Palmoplantar Keratoderma as a Variant of Lichen Planus.

    PubMed

    Sehgal, Virendra N; Aggarwal, Ashok; Syed, Nazim Hussain; Rasool, Farhan; Verma, Prashant; Sharma, Sonal

    2016-01-01

    A 52-year-old air conditioner mechanic presented with progressively itchy grayish white eruptions affecting the skin and mucous membranes, including his palms and soles for the past 2 months. The inner aspects of the palms and weight-bearing areas of the soles were the initial sites of presentation, resulting in a diffuse thickness of the palms and soles, which inhibited his everyday activity. The eruptions were asymptomatic but conspicuous. There was marked presence of multiple erythematous to grayish white (violaceous) flat-topped polygonal papules of varying sizes, with a few coalescing to form plaques. The papules varied in size from 5 mm to 4 cm and had prominent adherent scales on top when examined after smearing with mineral oil. Koebnerization was seen over the shin. The lesions were found on the wrists, forearms, ankles, legs, and thighs. There was a yellow to brown thick symmetric hyperkeratosis of the palms and soles, including the medial and lateral aspect of the fingers and toes, sparing the dorsal surfaces of the hands and feet (Figure 1). In addition, the medial arch and weight-bearing region of both soles were involved. The nails showed subungual hyperkeratosis, nail plate discoloration, and paronychia of the toes and fingers. Hyperkeratosis and scaly plaques were also identified in the web spaces (Figure 2). The buccal mucosa showed symmetrical white plaques with a lacy white pattern. PMID:27072734

  11. Palmoplantar Psoriasis and Palmoplantar Pustulosis: Current Treatment and Future Prospects.

    PubMed

    Raposo, Inês; Torres, Tiago

    2016-08-01

    Palmoplantar psoriasis and palmoplantar pustulosis are chronic skin diseases with a large impact on patient quality of life. They are frequently refractory to treatment, being generally described as a therapeutic challenge. This article aims to review the definitions of palmoplantar psoriasis and palmoplantar pustulosis, highlighting the similarities and differences in terms of epidemiology, clinical presentation, genetics, histopathology, and pathogenesis, as well as treatment options for both entities. Classical management of mild to moderate palmoplantar pustulosis and palmoplantar psoriasis relies on use of potent topical corticosteroids, phototherapy, and/or acitretin. Nevertheless, these drugs have proven to be insufficient in long-term control of extensive disease. Biologic therapy-namely, anti-interleukin-17 agents and phosphodiesterase type 4 inhibitors-has recently shown promising results in the treatment of palmoplantar psoriasis. Knowledge of the pathophysiologic pathways of both entities is of utmost importance and may, in the future, allow development of molecularly targeted therapeutics.

  12. Palmoplantar Psoriasis and Palmoplantar Pustulosis: Current Treatment and Future Prospects.

    PubMed

    Raposo, Inês; Torres, Tiago

    2016-08-01

    Palmoplantar psoriasis and palmoplantar pustulosis are chronic skin diseases with a large impact on patient quality of life. They are frequently refractory to treatment, being generally described as a therapeutic challenge. This article aims to review the definitions of palmoplantar psoriasis and palmoplantar pustulosis, highlighting the similarities and differences in terms of epidemiology, clinical presentation, genetics, histopathology, and pathogenesis, as well as treatment options for both entities. Classical management of mild to moderate palmoplantar pustulosis and palmoplantar psoriasis relies on use of potent topical corticosteroids, phototherapy, and/or acitretin. Nevertheless, these drugs have proven to be insufficient in long-term control of extensive disease. Biologic therapy-namely, anti-interleukin-17 agents and phosphodiesterase type 4 inhibitors-has recently shown promising results in the treatment of palmoplantar psoriasis. Knowledge of the pathophysiologic pathways of both entities is of utmost importance and may, in the future, allow development of molecularly targeted therapeutics. PMID:27113059

  13. Iontophoresis for palmoplantar hyperhidrosis.

    PubMed

    Kreyden, Oliver P

    2004-12-01

    The pathogenesis of palmoplantar hyperhidrosis (HH) remains unknown. A causative therapy is therefore not possible yet. Step by step treatment for palmoplantar HH is advised. This includes: topical aluminium salts, tap water iontophoresis (TWI), botulinum toxin (BTX) injections and endoscopic thoracoscopic sympathectomy (ETS). The mechanism of action of TWI has been previously studied but is still not completely understood. A widely accepted hypothesis is that the anodal current causes accumulation of H(+) within the sweat duct. It is presumed that this causes an unknown lesion in the acrosyringium that inhibits sweating. TWI is non-invasive, safe, well tolerated, efficient and cheap. The patient can perform the therapy at home without medical assistance. TWI remains the best treatment for palmoplantar HH that has defied aluminium salts. This article provides a review of the literature concerning TWI, including its historical development, its mechanism of action and its indication and also describes the method of administration of this helpful treatment. PMID:17166108

  14. Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.

    PubMed

    Fu, Dun Jack; Thomson, Calum; Lunny, Declan P; Dopping-Hepenstal, Patricia J; McGrath, John A; Smith, Frances J D; McLean, W H Irwin; Pedrioli, Deena M Leslie

    2014-03-01

    Keratin 9 (K9) is a type I intermediate filament protein whose expression is confined to the suprabasal layers of the palmoplantar epidermis. Although mutations in the K9 gene are known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin disorder, its functional significance is poorly understood. To gain insight into the physical requirement and importance of K9, we generated K9-deficient (Krt9(-/-)) mice. Here, we report that adult Krt9(-/-)mice develop calluses marked by hyperpigmentation that are exclusively localized to the stress-bearing footpads. Histological, immunohistochemical, and immunoblot analyses of these regions revealed hyperproliferation, impaired terminal differentiation, and abnormal expression of keratins K5, K14, and K2. Furthermore, the absence of K9 induces the stress-activated keratins K6 and K16. Importantly, mice heterozygous for the K9-null allele (Krt9(+/-)) show neither an overt nor histological phenotype, demonstrating that one Krt9 allele is sufficient for the developing normal palmoplantar epidermis. Together, our data demonstrate that complete ablation of K9 is not tolerable in vivo and that K9 is required for terminal differentiation and maintaining the mechanical integrity of palmoplantar epidermis.

  15. Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

    PubMed Central

    Fu, Dun Jack; Thomson, Calum; Lunny, Declan P; Dopping-Hepenstal, Patricia J; McGrath, John A; Smith, Frances J D; Irwin McLean, W H; Pedrioli, Deena M Leslie

    2014-01-01

    Keratin 9 (K9) is a type I intermediate filament protein whose expression is confined to the suprabasal layers of the palmoplantar epidermis. Although mutations in the K9 gene are known to cause epidermolytic palmoplantar keratoderma, a rare dominant-negative skin disorder, its functional significance is poorly understood. To gain insight into the physical requirement and importance of K9, we generated K9-deficient (Krt9−/−) mice. Here, we report that adult Krt9−/−mice develop calluses marked by hyperpigmentation that are exclusively localized to the stress-bearing footpads. Histological, immunohistochemical, and immunoblot analyses of these regions revealed hyperproliferation, impaired terminal differentiation, and abnormal expression of keratins K5, K14, and K2. Furthermore, the absence of K9 induces the stress-activated keratins K6 and K16. Importantly, mice heterozygous for the K9-null allele (Krt9+/−) show neither an overt nor histological phenotype, demonstrating that one Krt9 allele is sufficient for the developing normal palmoplantar epidermis. Together, our data demonstrate that complete ablation of K9 is not tolerable in vivo and that K9 is required for terminal differentiation and maintaining the mechanical integrity of palmoplantar epidermis. PMID:23962810

  16. Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma.

    PubMed

    Requena, L; Manzarbeitia, F; Moreno, C; Izquierdo, M J; Pastor, M A; Carrasco, L; Fariña, M C; Martín, L

    2001-12-01

    Olmsted syndrome is a rare disorder that consists of sharply marginated keratoderma of the palms and soles, constriction of digits and toes that may result in spontaneous amputation of the distal phalanges, hyperkeratotic plaques around the body orifices, onychodystrophy, and other less common cutaneous and extracutaneous anomalies. Although some patients had other affected family members, most cases of Olmsted syndrome seem to be of sporadic occurrence. We describe a patient with the characteristic features of Olmsted syndrome. The symptoms consisted of diffuse transgrediens palmoplantar keratoderma and keratotic plaques around the mouth and nose. Our patient also had the associated anomalies of hyperhidrosis of the palms and soles and congenital deaf-mutism. Histopathologic study of the keratoderma demonstrated epidermal hyperplasia with acanthosis, papillomatosis, and orthokeratotic hyperkeratosis. Immunohistochemical study showed more basal and suprabasal keratinocytes of the epidermis with immunoreactivity for Ki-67 marker when compared with the keratinocytes of the epidermis of the adjacent non-involved skin. These results support the notion that Olmsted syndrome is a hyperproliferative disorder of the epidermis. PMID:11801792

  17. Building models for keratin disorders.

    PubMed

    Koster, Maranke I

    2012-05-01

    Palmoplantar keratoderma is a hallmark of pachyonychia congenita (PC) and focal non-epidermolytic palmoplantar keratoderma (FNEPPK). By generating keratin 16 (Krt16)-deficient mice, Lessard and Coulombe, as described in this issue, have generated a mouse model to replicate these palmoplantar lesions. Studies using this model may provide novel insights into the molecular mechanisms responsible for the formation of palmoplantar lesions in PC and FNEPPK patients.

  18. Palmoplantar lichen planus successfully treated with acitretin.

    PubMed

    Solak, Berna; Kara, Rabia Oztas; Kosem, Mustafa

    2015-01-01

    Palmoplantar lichen planus (PPL) is an uncommon type of lichen planus (LP) that exclusively affects the palms and soles. We report a case of a 50-year-old man who had palmoplantar hyperkeratotic papules and plaques. The patient was diagnosed as a case of PPL by skin biopsy, and treated with acitretin. He showed a good response to acitretin within 2 months. Clinical appearance and some features of PPL may differ from classic LP. Acitretin may be a favourable treatment option for PPL. PMID:26347237

  19. Aquagenic Keratoderma Treated with Tap Water Iontophoresis

    PubMed Central

    Errichetti, Enzo; Piccirillo, Angelo

    2015-01-01

    Aquagenic keratoderma (AK) is a rare acquired skin condition characterized by recurrent and transient white papules and plaques associated with a burning sensation, pain, pruritus and/or hyperhidrosis on the palms and more rarely, soles triggered by sweat or contact with water. Often AK cause significant discomfort, thus requiring an appropriate therapy. Topical aluminum-based products are the most commonly used medications, but they are not always effective. We report a case of AK unresponsive to topical 20% of aluminum chloride successfully treated with tap water iontophoresis. PMID:25814730

  20. Alkaptonuric ochronosis presenting as palmoplantar pigmentation.

    PubMed

    Vijaikumar, M; Thappa, D M; Srikanth, S; Sethuraman, G; Nadarajan, S

    2000-06-01

    We describe a 37-year-old woman who presented with palmoplantar pigmentation, thickening and pitting of 4 years duration. Bluish pigmented patches were seen over the sclera of her eyes. Her lumbar spine showed typical calcification of the intervertebral discs. Addition of Benedict's reagent to a urine sample of the patient gave rise to greenish brown precipitate and brownish black supernatant. Alkalinization of urine turned it black. A biopsy of the palmar lesion demonstrated irregular breaking up, swelling and homogenization of collagen bundles in the reticular dermis. Yellow-brown (ochre coloured) pigment was seen lying within the collagen bundles and also freely in the deeper dermis confirming our clinical diagnosis of alkaptonuric ochronosis. To the best of our knowledge this is probably the second report of alkaptonuria presenting with palmoplantar pigmentation. PMID:10971492

  1. A Case of Syphilitic Keratoderma Concurrent with Syphilitic Uveitis

    PubMed Central

    Hwang, Seon-Wook; Kang, Ju-Hyun; Chun, Ji-Sung; Seo, Jong-Keun; Kim, Hyun-Woong; Sung, Ho-Suk

    2009-01-01

    Syphilitic keratoderma is a rare cutaneous manifestation of secondary syphilis, characterized by symmetrical and diffuse hyperkeratosis of the palms and soles. In addition, no cases of syphilitic keratoderma and uveitis have been reported in the dermatologic literature. A 69-year-old woman presented with steroid-resistant hyperkeratotic patches on the palms and soles and uveitis for 4 months. As steroid-resistant uveitis must be evaluated for syphilis, viral infections, and autoimmune diseases, we ran several laboratory tests and the serologic test for VDRL was reactive (titer; 1:128). After treatment with penicillin G (4 MU, IV every 4 hours for 2 weeks), her skin lesions and visual disturbance were completely resolved. Therefore she was diagnosed as having syphilitic keratoderma and uveitis. Here, we report a rare case of syphilitic keratoderma concurrent with syphilitic uveitis and suggest that evaluation for syphilis may be required when skin lesions and ocular disturbance are resistant to long-term steroid therapy. PMID:20523832

  2. Pityriasis rosea with palmoplantar plaque lesions.

    PubMed

    Bukhari, I

    2005-01-01

    Pityriasis rosea is a skin disease characterized by sharply defined pruritic red patches covered by fine scales. It affects mostly adolescent and young adults. Typical lesions usually affect the trunk in a Christmas-tree pattern. The eruption usually resolves after 6 weeks but symptomatic treatment may be needed. Two patients are reported with classic presentation of pityriasis rosea except for the unusual associated palmoplantar lesions; both patients had negative RPR (with dilutions) and MHA-TP. They responded to 2-week courses of either oral erythromycin or Clarithromycin with complete resolution.

  3. Palmoplantar Dermatoses- A Clinical Study of 300 Cases

    PubMed Central

    Rajashekhar, Nadiga; Gejje, Somashekar

    2016-01-01

    Introduction Dermatoses affecting palms and soles are among the most difficult of all dermatological therapeutic problems. Many previous studies have focused on the specific diseases of palmoplantar dermatoses. However, none of them have included a comprehensive study of palmoplantar dermatoses. Aims: To study the epidemiological aspects like age distribution, sex distribution, the dermatoses affecting the palms & soles and the frequency of involvement of palms, soles or both palms & soles, in patient with palmoplantar dermatoses. Materials and Methods This cross sectional study was conducted in the Department of Dermatology between October 2011 to September 2013. First 300 cases attending the department of dermatology primarily with complaints pertaining to palms and soles were enrolled in the study. After taking consent a detailed history and clinical examination pertaining to the aim of the study was recorded and analysed, which included inspection of morphology and distribution of lesions and palpation of any swelling. Direct microscopic examination of scrapings, wet mounted with 10% potassium hydroxide was done for cases with scaly lesions. Those who had a pustule, gram staining was done. Patch testing using Indian Standard Battery Series was done for those cases of eczema. A sample for biopsy was taken when diagnosis could not be arrived clinically, and subjected to histopathological examination. Results In our study of 300 patients with palmoplantar dermatoses, 164 were females and 136 were males, the ratio observed being 1.2:1. The peak incidence was found in the age group 21-30 years, with 41 females (25%) and 35 males (25.7%). Most frequently affected individuals in this study were housewives (30%). The most common five diseases of palmoplantar dermatoses were palmoplantar psoriasis (20.7%), moniliasis (19%), palmoplantar hyperhidrosis (7%), keratolysis exfoliativa (6%) and pitted keratolysis (6%). Majority of patients had involvement of both palms and

  4. Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.

    PubMed

    Rabinowitz, L G; Williams, L R; Anderson, C E; Mazur, A; Kaplan, P

    1995-02-01

    Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary tyrosine concentrations. We describe a young boy who was seen at 6 months of age with red eyes, photophobia, and eye pain that were not suspected to be caused by tyrosinemia II until painful plantar keratoderma developed at 2 1/2 years of age. Treatment with a diet low in tyrosine and phenylalanine reversed the manifestations of the disease.

  5. Group A streptococcal meningitis in a patient with palmoplantar pustulosis.

    PubMed

    Hagiya, Hideharu; Otsuka, Fumio

    2013-01-01

    A 64-year-old man with a 10-year history of palmoplantar pustulosis, a recent history of cranial surgery and a persistent upper airway infection presented with a high fever and deep coma. The patient was diagnosed with Group A Streptococcal meningitis and promptly treated with antibiotics. Although his general condition recovered well, sensorineural hearing loss and facial palsy remained. Group A Streptococcal meningitis is a rare condition, and its typical clinical picture and epidemiological features remain poorly understood. Physicians need to be more aware of this infection, which is extremely rare but frequently causes various complications and yields a high mortality.

  6. Normal Immunostaining Pattern for Aquaporin-5 in the Lesions of Palmoplantar Hyperhidrosis

    PubMed Central

    Nakahigashi, Kyoko; Nomura, Takashi; Miyachi, Yoshiki; Kabashima, Kenji

    2013-01-01

    Aquaporin-5 (AQP-5) is a water-transporting protein expressed in mammal sweat glands. It has been reported that the expression of AQP-5 is involved in sweating of mice, rats, and horses. However, the physiological function of human AQP-5 is still uncertain. In this report, we examined the expression pattern of AQP-5 in the skin lesions of palmoplantar hyperhidrosis in patients with Nagashima-type palmoplantar hyperkeratosis (PPK). We found that there was no significant difference in AQP-5 expression in the palmoplantar skin of healthy subjects and patients with palmoplantar hyperhidrosis. Our findings suggest that a mechanism other than AQP-5 may be involved in the pathogenesis of hyperhidrosis in PPK. PMID:23626540

  7. Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report.

    PubMed

    Seow, W K

    1989-06-01

    In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome differs markedly from the autosomal recessive types of palmoplantar hyperkeratosis such as Papillon-Lefèvre syndrome which shows premature loss of both dentitions. It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, facial dysmorphism, and hypodontia. These features which previously have not been associated with palmoplantar hyperkeratosis suggest that this may be a new syndrome.

  8. Palmar spiny keratoderma associated with type IV hyperlipoproteinemia.

    PubMed

    Urbani, C E; Moneghini, L

    1998-05-01

    We report the case of a 35-year-old man with acquired palmar spiny keratoderma (SK) in association with type IV hyperlipoproteinemia. Cutaneous lesions appeared 11 years before with no history of any previous skin conditions, topical medication or systemic treatment with Vitamin A-derived drugs, x-irradiation, arsenic poisoning or prolonged sun exposure. Family aggregation for SK or other disorders of keratinization was ruled out. Blood chemistries demonstrated hypertriglyceridemia (422 mg/dl) and elevation in plasma concentration of the pre-beta fraction (VLDL) of lipoproteins pattern compatible with a type IV hyperlipoproteinemia. Family aggregation for this metabolic defect was then confirmed. The histologic hallmark of the 'spine' lesion was a compact column of hyperparakeratotic cells (columnar hyperparakeratosis) continuous with a hypogranular layer, without further evidence of dyskeratotic or vacuolated keratinocytes and inflammatory cells in the corresponding dermis. SK represents a well-definite entity which fulfills precise clinico-histologic criteria. However, three main questions are related to SK: differential diagnosis with porokeratosis on histologic examination (columnar hyperparakeratosis or hyperorthokeratosis alone in SK vs. cornoid lamella accompanied by remarkable dermoepidermal changes in porokeratosis); classificative scheme (proper nomenclature to avoid misleading and confounding names); and nosological arrangement (probably two subsets exist: hereditary or benign; and acquired, or idiopathic, which may be paraneoplastic in about 50% of the patients). To the best of our knowledge this is the first case reporting the association between SK and a metabolic impairment although the real connections linking these conditions are still unclear.

  9. Does smoking influence the efficacy of bath-PUVA therapy in chronic palmoplantar eczema?

    PubMed

    Douwes, K E; Karrer, S; Abels, C; Landthaler, M; Szeimies, R M

    2000-02-01

    Bath-PUVA therapy has been described as successful treatment for palmoplantar eczema. However, our own observations showed that patients with palmoplantar eczema of the dyshidrotic or hyperkeratotic type responded only partially to bath-PUVA therapy. In order to evaluate environmental influences possibly having an impact on the efficacy of this therapy, smokers and non-smokers suffering from palmoplantar eczema treated with bath-PUVA therapy were compared. A retrospective study was conducted involving 62 patients, 39 non-smokers and 23 smokers, with palmar and/or plantar eczema resistant to local corticosteroids. Bath-PUVA therapy was performed according to the European standard regimen for oral PUVA therapy. The total number of treatments and the cumulative UVA-dose were similar in smokers and non-smokers (smokers 24+/-17.7 (mean+/-SD) and 67.6+/-51.3 J/cm2 vs. non-smokers 25.7+/-16.3 and 68.5+/-49.3 J/cm2). In the group of non-smokers, 31% showed complete remission (CR; 100% clearance), 33% partial remission (PR; more than 50% clearance) and 36% no change after treatment (NC; less than 50% clearance). In contrast, the group of smokers showed only 13% CR and 22% PR, whereas 65% exhibited NC. The differences regarding complete or partial remission between the groups were statistically significant (Student t-test for paired samples; P<0.05). Regarding the different type of eczema, bath-PUVA proved to be more successful in the dyshidrotic type of eczema as compared to the hyperkeratotic type in non-smokers (P<0.05). In the group of smokers no CR was achieved in patients suffering from the dyshidrotic form of eczema. Smoking is likely to be a reason for the failure of bath-PUVA therapy in the treatment of chronic palmoplantar eczema, in particular regarding smokers with eczema of the dyshidrotic type where no complete remission was achieved.

  10. Palmar-plantar keratoderma of Unna Thost associated with atopic dermatitis: an underrecognized entity?

    PubMed

    Loh, Teck-Hiong; Yosipovitch, Gil; Tay, Yong-Kwang

    2003-01-01

    We report six cases of palmar-plantar keratoderma of Unna Thost (PPKUT) associated with atopic dermatitis. All had typical features of PPKUT with diffuse, yellowish thickening on the palms and soles with a well-defined erythematous rim of demarcation on the sides associated with palmar-plantar hyperhidrosis. The changes were obvious since birth or arose during early life, and were persistent. We believe that the association between the two disorders is not coincidental but an underrecognized entity that may shed light on the underlying pathogenesis of these two conditions.

  11. How do keratinizing disorders and blistering disorders overlap?

    PubMed

    Hamada, Takahiro; Tsuruta, Daisuke; Fukuda, Shunpei; Ishii, Norito; Teye, Kwesi; Numata, Sanae; Dainichi, Teruki; Karashima, Tadashi; Ohata, Chika; Furumura, Minao; Hashimoto, Takashi

    2013-02-01

    Inherited keratinizing disorders are caused by mutations in the genes encoding cornified cell envelope proteins, enzymes and their inhibitors, adhesion molecules, cytoskeletal proteins and others in the epidermis. These molecules are known to regulate differentiation, proliferation and cell adhesions. Intriguingly, some keratinizing disorders show blistering skin lesions, while some inherited blistering disorders show abnormal keratinization. Therefore, hereditary keratinizing and blistering diseases are closely related and show overlapping genetic backgrounds. In this review, we overviewed keratinizing and blistering disorders in terms of overlapping of the two disease groups. Gene mutations in desmosomal components cause striate keratoderma, Naxos disease, epidermolytic palmoplantar keratoderma and plakophilin deficiency, which first show skin fragility and blisters and later hyperkeratosis. Gene mutations in hemidesmosomal components cause various forms of epidermolysis bullosa, some of which show hyperkeratosis on the nails, palms and soles, in addition to blister formation. Diseases with gene mutations in calcium pump proteins are Darier disease and Hailey-Hailey disease, which show clinicopathological overlaps and develop both keratinizing and blistering skin lesions. Finally, gene mutations in epidermal keratins cause epidermolysis bullosa simplex, epidermolytic ichthyosis, superficial epidermolytic ichthyosis, epidermolytic palmoplantar keratoderma and pachyonychia congenita/focal palmoplantar keratoderma, which show thickening of the palms and soles with underlying blister formation. In general, responsible proteins for diseases developing both keratinizing and blistering conditions are adhesion molecules, calcium pump proteins and keratins, but not connexins, cornified cell envelop proteins, enzymes or inhibitors. It is still unknown how particular keratinizing diseases develop blisters and vice versa.

  12. Superiority of thoracoscopic sympathectomy over medical management for the palmoplantar subset of severe hyperhidrosis.

    PubMed

    Baumgartner, Fritz J; Bertin, Shana; Konecny, Jiri

    2009-01-01

    Severe hyperhidrosis is a disabling disorder whose management is controversial. Medical treatment consists of topical aluminum chloride, oral anticholinergics, ionotophoresis, and botulinum toxin A (Botox) injections. Despite the minimally invasive nature of thoracoscopic sympathectomy, there is a common perception that surgery is only a "last resort." The palmoplantar subtype of hyperhidrosis is particularly problematic for patients professionally and socially. The purpose of our study was to determine the safety, efficacy, and side effects of the various medical treatments vs. bilateral thoracoscopic sympathectomy (BTS) for palmoplantar hyperhidrosis. Consecutive patients (n = 192) were selected based on massive palmar sweating, similar level of plantar sweating, bimodal onset in early childhood or puberty, and exacerbation with ordinary hand lotion. A prospective cohort of 47 patients underwent medical treatment with their responses monitored on a prospective basis, and 145 patients underwent retrospective evaluation of their medical treatment based on their histories. Patients whose medical treatments failed or resulted in intolerable side effects were offered outpatient BTS surgery at the T2-T3 level. Of the 47 prospective patients, 46 received topical aluminum chloride, 40 anticholinergics, six iontophoresis, and 45 BTS surgery. Only one patient was successfully treated with aluminum chloride (2.2%) and one successfully treated with anticholinergics (2.5%), and these did not undergo surgery. Iontophoresis was not successful in any prospectively followed patient. BTS was effective in curing palmar hyperhidrosis in 100% of patients. The superiority of BTS vs. topical aluminum chloride, anticholinergics, and iontophoresis to successfully treat palmar hyperhidrosis was highly statistically significant (p < 0.001). For the retrospective group of 145 patients, 89 had been treated with topical aluminum chloride, 38 with oral anticholinergics, 31 with iontophoresis

  13. Focal dystonia in musicians.

    PubMed

    Lie-Nemeth, Theresa J

    2006-11-01

    In conclusion, musicians' focal dystonia is a significant and potentially career-ending neurological condition of which physiatrists and other performing arts medicine clinicians should be aware. Pathology has been identified in the somatosensory cortex, and in the motor cortex and basal ganglia. Although advances have been made in the elucidating some of the pathologic changes in focal dystonia, better understanding is needed. Current treatments such as retraining, splinting, oral medications, and botulinum toxin injections are limited. Therefore, the ultimate goal for focal dystonia is to prevent this disabling disorder of instrumental musicians.

  14. Partial (focal) seizure

    MedlinePlus

    ... Jacksonian seizure; Seizure - partial (focal); Temporal lobe seizure; Epilepsy - partial seizures ... Abou-Khalil BW, Gallagher MJ, Macdonald RL. Epilepsies. In: Daroff ... Practice . 7th ed. Philadelphia, PA: Elsevier; 2016:chap 101. ...

  15. SNAP focal plane

    SciTech Connect

    Lampton, Michael L.; Kim, A.; Akerlof, C.W.; Aldering, G.; Amanullah, R.; Astier, P.; Barrelet, E.; Bebek, C.; Bergstrom, L.; Berkovitz, J.; Bernstein, G.; Bester, M.; Bonissent, A.; Bower, C.; Carithers Jr., W.C.; Commins, E.D.; Day, C.; Deustua, S.E.; DiGennaro,R.; Ealet, A.; Ellis, R.S.; Eriksson, M.; Fruchter, A.; Genat, J.-F.; Goldhaber, G.; Goobar, A.; Groom, D.; Harris, S.E.; Harvey, P.R.; Heetderks, H.D.; Holland, S.E.; Huterer, D.; Karcher, A.; Kolbe, W.; Krieger, B.; Lafever, R.; Lamoureux, J.; Levi, M.E.; Levin, D.S.; Linder,E.V.; Loken, S.C.; Malina, R.; Massey, R.; McKay, T.; McKee, S.P.; Miquel, R.; Mortsell, E.; Mostek, N.; Mufson, S.; Musser, J.; Nugent, P.; Oluseyi, H.; Pain, R.; Palaio, N.; Pankow, D.; Perlmutter, S.; Pratt, R.; Prieto, E.; Refregier, A.; Rhodes, J.; Robinson, K.; Roe, N.; Sholl, M.; Schubnell, M.; Smadja, G.; Smoot, G.; Spadafora, A.; Tarle, G.; Tomasch,A.; von der Lippe, H.; Vincent, R.; Walder, J.-P.; Wang, G.

    2002-07-29

    The proposed SuperNova/Acceleration Probe (SNAP) mission will have a two-meter class telescope delivering diffraction-limited images to an instrumented 0.7 square-degree field sensitive in the visible and near-infrared wavelength regime. We describe the requirements for the instrument suite and the evolution of the focal plane design to the present concept in which all the instrumentation--visible and near-infrared imagers, spectrograph, and star guiders--share one common focal plane.

  16. Efficacy of granulocyte and monocyte adsorption apheresis for treatment of palmoplantar pustulosis.

    PubMed

    Fujisawa, Tomomi; Tawada, Chisato; Mizutani, Yoko; Doi, Tomoaki; Yoshida, Shozo; Ogura, Shinji; Seishima, Mariko

    2014-06-01

    Palmoplantar pustulosis (PPP) is characterized by neutrophilic pustules with erythema, which are limited to the hands and feet. Although granulocyte and monocyte adsorption apheresis (GMA) has shown remarkable effects on generalized pustular psoriasis, there are few reports of PPP treated with GMA. We treated three refractory PPP patients using GMA weekly for 5 weeks. The skin eruptions were assessed by a 5-grade score for scales, pustules, and erythema. GMA decreased the total grade from 9 to 2 in patients 1 and 2, and from 7 to 3 in patient 3. The GMA effects were estimated to be excellent in all three patients. Pustule formation and pain disappeared in all cases. The treatment effect lasted for at least 5 months after GMA. GMA was also effective for relieving the arthralgia in one patient, but it recurred at 6 weeks. Based on these findings, GMA could be an effective therapy for refractory PPP.

  17. Oral focal epithelial hyperplasia.

    PubMed

    Bassioukas, K; Danielides, V; Georgiou, I; Photos, E; Zagorianakou, P; Skevas, A

    2000-01-01

    Focal epithelial hyperplasia (FEH) or Heck disease, is a rare viral infection of the oral mucosa caused by HPV 13 or HPV 32. In Caucasians there have been only a few cases reported. We present the first case in Greece in a young Caucasian girl in which HPV 13 was detected with PCR analysis. The patient was successfully treated with CO2 laser.

  18. [Focal infections in otorhinolaryngology].

    PubMed

    Pal'chun, V T

    2016-01-01

    This publication is focused on the mechanisms underlying the clinical course of acute focal infections concomitant with ENT pathology, factors responsible for their chronization and the development of complications. Also discussed are the methods for the early adequate conservative and surgical treatment of these conditions. Special emphasis is placed on the principles of management of chronic tonsillitis. PMID:26977559

  19. Jumihaidokuto (Shi-Wei-Ba-Du-Tang), a Kampo Formula, Decreases the Disease Activity of Palmoplantar Pustulosis

    PubMed Central

    Mizawa, Megumi; Makino, Teruhiko; Inami, Chieko; Shimizu, Tadamichi

    2016-01-01

    Palmoplantar pustulosis (PPP) is a chronic skin disease characterized by sterile intraepidermal pustules associated with erythematous scaling on the palms and soles. Jumihaidokuto is a traditional herbal medicine composed of ten medical plants and has been given to patients with suppurative skin disease in Japan. This study investigated the effect of jumihaidokuto on the disease activity in PPP patients (n = 10). PPP patients were given jumihaidokuto (EKT-6; 6.0 g per day) for 4 to 8 weeks in addition to their prescribed medications. The results showed that the palmoplantar pustular psoriasis area and severity index (PPPASI) was decreased after the administration of jumihaidokuto (p < 0.05). Therefore, Jumihaidokuto is seemingly effective against PPP. PMID:27143961

  20. Focal and generalized alopecia.

    PubMed

    O'Dair, H A; Foster, A P

    1995-07-01

    Focal or generalized alopecia is defined as hair loss affecting the ventral, lateral, perineal, and dorsal aspects of the trunk of the cat, usually in a symmetric pattern. This may be attributable to failure of hair coat production, excess loss of hair due to self trauma, or excess shedding of whole hairs. Self trauma is the most common cause of hair loss and is associated particularly with flea allergy dermatitis. Other causes of hair loss are reviewed.

  1. Oral focal epithelial hyperplasia.

    PubMed

    López-Jornet, Pía; Camacho-Alonso, Fabio; Berdugo, Lucero

    2010-01-01

    Focal epithelial hyperplasia (FEH) is a benign, asymptomatic disease. It appears as papules, principally on the lower lip, although it can also be found on the retro-commissural mucosa and tongue and, less frequently, on the upper lip, gingiva and palate. FEH is caused by human papillomavirus subtype 13 or 32. The condition occurs in many populations and ethnic groups. We present the clinical case of a 31-year-old male with lesions that clinically and histologically corresponded to FEH.

  2. Focal adhesions in osteoneogenesis

    PubMed Central

    Biggs, M.J.P; Dalby, M.J

    2010-01-01

    As materials technology and the field of tissue engineering advances, the role of cellular adhesive mechanisms, in particular the interactions with implantable devices, becomes more relevant in both research and clinical practice. A key tenet of medical device technology is to use the exquisite ability of biological systems to respond to the material surface or chemical stimuli in order to help develop next-generation biomaterials. The focus of this review is on recent studies and developments concerning focal adhesion formation in osteoneogenesis, with an emphasis on the influence of synthetic constructs on integrin mediated cellular adhesion and function. PMID:21287830

  3. [Focal epithelial hyperplasia].

    PubMed

    Delgado, Yolanda; Torrelo, Antonio; Colmenero, Isabel; Zambrano, Antonio

    2005-12-01

    Focal epithelial hyperplasia (FEH) is a benign proliferation of the oral mucosa with well defined clinical and histological characteristics. It has been associated with infection of the oral mucosa by types 13 and 32 of the human papillomavirus (HPV), and to a lesser extent, with other types. Its clinical course is variable, although it usually persists for months or years; cases with spontaneous resolution have been described, as have others with prolonged persistence. We present the case of an Ecuadorian boy whose visit was motivated by lesions in the oral mucosa consistent with a diagnosis of FEH, which were confirmed in the histological study, and in which HPV type 13 DNA was identified.

  4. [Focal epithelial hyperplasia].

    PubMed

    Carlino, P; Di Felice, R; Fiore-Donno, G; Samson, J

    1991-05-01

    Five cases of "focal epithelial hyperplasia" (FEH) of the oral mucosa observed in Switzerland are reported. The patients were of Turkish and North African extraction. The lesions of FEH were multiple, painless, located at various sites of the oral mucosa including the tongue in the form of either soft papules or hard nodules. Evidence of a human papilloma virus origin was ascertained. Among the 1067 cases reported in the literature and reviewed for this study, this condition has been described to occur among American Indians, Eskimos and North African, also in Israeli and European cases the disorder was often reported in individuals of Turkish or North African extraction.

  5. [The focal renal lesions].

    PubMed

    Tuma, Jan

    2013-06-01

    The focal renal lesions are altogether common. Most frequently are found Columna Bertini hypertrophies (so called pseudotumors) and simple renal cysts. The role of sonography in the practice is to distinguish pseudotumors from real renal tumors, and simple renal cysts from complex cysts. The differentiation of complex renal cysts is possible with the help of the CEUS (= contrast enhanced ultrasound) and other imaging modalities such as CT or MRI. In these cases, the CEUS imaging agent has clear advantages over CT and MRI, because it is composed of gas bubbles, which are only slightly smaller than red blood cells and remains exclusively intravascularly while the CT and MRI contrast agents diffuse into the interstitial space without any real perfusion. The real tumors can be differentiated from certain focal non-tumorous changes based on the ultrasound and clinic. The further differentiation of individual kidney tumors and metastases using ultrasound, MRI, CT and CEUS is only partly possible. In all uncertain or unclear cases, therefore, an open or ultrasound-guided biopsy is useful.

  6. Asterixis in focal brain lesions.

    PubMed

    Degos, J D; Verroust, J; Bouchareine, A; Serdaru, M; Barbizet, J

    1979-11-01

    Asterixis was observed in 20 cases of focal brain lesions. Metabolic or toxic factors were excluded. An electromyogram study of asterixis was carried out in nine cases to establish the diagnosis. The site of the focal lesion was either parietal or mesencephalic and was always contralateral to the asterixis. "Focal asterixis" could result from a dysfunction of the sensorimotor integration in the parietal lobe and the midbrain.

  7. Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance.

    PubMed

    Isidor, Bertrand; Lefebvre, Tiphaine; Barbarot, Sébastien; Perrier, Julie; Mercier, Sandra; Péréon, Yann; Le Caignec, Cédric; David, Albert

    2013-06-01

    In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half-brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo-plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance.

  8. Efalizumab in the Treatment of Scalp, Palmoplantar and Nail Psoriasis: Results of a 24-Week Latin American Study

    PubMed Central

    Takahashi, María Denise; Chouela, Edgardo Néstor; Dorantes, Gladys Leon; Roselino, Ana Maria; Santamaria, Jesùs; Allevato, Miguel Angel; Cestari, Tania; de Aillaud, Maria Eugenia Manzanera; Stengel, Fernando Miguel; Licu, Daiana

    2010-01-01

    Introduction Plaque-type psoriasis affecting the nails, scalp, hands or feet can often be difficult to treat; for example, topical treatments and phototherapy may not penetrate the nail plate or scalp. The objective of this large, international, multicentre study was to investigate the efficacy of efalizumab in a Latin American population of adult patients with moderate-to-severe chronic plaque psoriasis who were candidates for systemic therapy or phototherapy. Methods Eligible patients were enrolled in a 24-week, open-label, single-arm, Phase IIIb/IV study of continuous treatment with subcutaneous efalizumab, 1.0 mg/kg/wk. Involvement of the nails, scalp, or hands or feet was assessed using the Nail Psoriasis Severity Index (NAPSI), the Psoriasis Scalp Severity Index (PSSI), or the Palmoplantar Pustulosis Psoriasis Area and Severity Index (PPPASI), respectively. Missing data were handled using a last observation carried forward or nonresponder imputation approach. Results Of the 189 patients who received treatment, 112 patients had nail involvement, 172 had scalp involvement, and 19 had palmoplantar disease at baseline. At Week 24, ≥50% improvement on the NAPSI, PSSI and PPPASI was observed in 31%, 71% and 68% of patients, respectively, whereas ≥75% improvement on these scores was observed in 17%, 52% and 63%, respectively. Descriptive statistics showed lower NAPSI-75 and higher PSSI-75 and -50 response rates among patients with higher baseline scores. Conclusions This open-label, uncontrolled study provides supportive evidence of the potential of efalizumab as a treatment for nail, scalp and palmoplantar psoriasis. PMID:20428227

  9. Presentation of epidermolytic acanthomas as multiple tan papules on the vulva

    PubMed Central

    Fletcher, J. Wesley; Parekh, Palak

    2016-01-01

    Epidermolytic hyperkeratosis is a histological reaction pattern seen in a variety of disease processes, including epidermolytic ichthyosis, Vorner's epidermolytic palmoplantar keratoderma, epidermal nevus, and solitary epidermolytic acanthoma. Here we present the case of a 59-year-old woman with multiple asymptomatic papules on her vulva. Clinical differential diagnoses included condyloma acuminata, seborrheic keratoses, bowenoid papulosis, adnexal tumors, and papular acantholytic dyskeratosis. Shave biopsy revealed findings consistent with epidermolytic hyperkeratosis. This case represents an interesting presentation of focally disseminated vulvar epidermolytic acanthomas and highlights the importance of a biopsy in establishing this diagnosis. PMID:27034569

  10. Presentation of epidermolytic acanthomas as multiple tan papules on the vulva.

    PubMed

    Fletcher, J Wesley; Ramamurthi, Arathi; Parekh, Palak

    2016-04-01

    Epidermolytic hyperkeratosis is a histological reaction pattern seen in a variety of disease processes, including epidermolytic ichthyosis, Vorner's epidermolytic palmoplantar keratoderma, epidermal nevus, and solitary epidermolytic acanthoma. Here we present the case of a 59-year-old woman with multiple asymptomatic papules on her vulva. Clinical differential diagnoses included condyloma acuminata, seborrheic keratoses, bowenoid papulosis, adnexal tumors, and papular acantholytic dyskeratosis. Shave biopsy revealed findings consistent with epidermolytic hyperkeratosis. This case represents an interesting presentation of focally disseminated vulvar epidermolytic acanthomas and highlights the importance of a biopsy in establishing this diagnosis.

  11. Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

    PubMed Central

    Kubo, Akiharu; Shiohama, Aiko; Sasaki, Takashi; Nakabayashi, Kazuhiko; Kawasaki, Hiroshi; Atsugi, Toru; Sato, Showbu; Shimizu, Atsushi; Mikami, Shuji; Tanizaki, Hideaki; Uchiyama, Masaki; Maeda, Tatsuo; Ito, Taisuke; Sakabe, Jun-ichi; Heike, Toshio; Okuyama, Torayuki; Kosaki, Rika; Kosaki, Kenjiro; Kudoh, Jun; Hata, Kenichiro; Umezawa, Akihiro; Tokura, Yoshiki; Ishiko, Akira; Niizeki, Hironori; Kabashima, Kenji; Mitsuhashi, Yoshihiko; Amagai, Masayuki

    2013-01-01

    “Nagashima-type” palmoplantar keratosis (NPPK) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by well-demarcated diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis in NPPK is mild and nonprogressive, differentiating NPPK clinically from Mal de Meleda. We performed whole-exome and/or Sanger sequencing analyses of 13 unrelated NPPK individuals and identified biallelic putative loss-of-function mutations in SERPINB7, which encodes a cytoplasmic member of the serine protease inhibitor superfamily. We identified a major causative mutation of c.796C>T (p.Arg266∗) as a founder mutation in Japanese and Chinese populations. SERPINB7 was specifically present in the cytoplasm of the stratum granulosum and the stratum corneum (SC) of the epidermis. All of the identified mutants are predicted to cause premature termination upstream of the reactive site, which inhibits the proteases, suggesting a complete loss of the protease inhibitory activity of SERPINB7 in NPPK skin. On exposure of NPPK lesional skin to water, we observed a whitish spongy change in the SC, suggesting enhanced water permeation into the SC due to overactivation of proteases and a resultant loss of integrity of the SC structure. These findings provide an important framework for developing pathogenesis-based therapies for NPPK. PMID:24207119

  12. Focal adhesion kinase

    PubMed Central

    Stone, Rebecca L; Baggerly, Keith A; Armaiz-Pena, Guillermo N; Kang, Yu; Sanguino, Angela M; Thanapprapasr, Duangmani; Dalton, Heather J; Bottsford-Miller, Justin; Zand, Behrouz; Akbani, Rehan; Diao, Lixia; Nick, Alpa M; DeGeest, Koen; Lopez-Berestein, Gabriel; Coleman, Robert L; Lutgendorf, Susan; Sood, Anil K

    2014-01-01

    This investigation describes the clinical significance of phosphorylated focal adhesion kinase (FAK) at the major activating tyrosine site (Y397) in epithelial ovarian cancer (EOC) cells and tumor-associated endothelial cells. FAK gene amplification as a mechanism for FAK overexpression and the effects of FAK tyrosine kinase inhibitor VS-6062 on tumor growth, metastasis, and angiogenesis were examined. FAK and phospho-FAKY397 were quantified in tumor (FAK-T; pFAK-T) and tumor-associated endothelial (FAK-endo; pFAK-endo) cell compartments of EOCs using immunostaining and qRT-PCR. Associations between expression levels and clinical variables were evaluated. Data from The Cancer Genome Atlas were used to correlate FAK gene copy number and expression levels in EOC specimens. The in vitro and in vivo effects of VS-6062 were assayed in preclinical models. FAK-T and pFAK-T overexpression was significantly associated with advanced stage disease and increased microvessel density (MVD). High MVD was observed in tumors with elevated endothelial cell FAK (59%) and pFAK (44%). Survival was adversely affected by FAK-T overexpression (3.03 vs 2.06 y, P = 0.004), pFAK-T (2.83 vs 1.78 y, P < 0.001), and pFAK-endo (2.33 vs 2.17 y, P = 0.005). FAK gene copy number was increased in 34% of tumors and correlated with expression levels (P < 0.001). VS-6062 significantly blocked EOC and endothelial cell migration as well as endothelial cell tube formation in vitro. VS-6062 reduced mean tumor weight by 56% (P = 0.005), tumor MVD by 40% (P = 0.0001), and extraovarian metastasis (P < 0.01) in orthotopic EOC mouse models. FAK may be a unique therapeutic target in EOC given the dual anti-angiogenic and anti-metastatic potential of FAK inhibitors. PMID:24755674

  13. Continuously variable focal length lens

    DOEpatents

    Adams, Bernhard W; Chollet, Matthieu C

    2013-12-17

    A material preferably in crystal form having a low atomic number such as beryllium (Z=4) provides for the focusing of x-rays in a continuously variable manner. The material is provided with plural spaced curvilinear, optically matched slots and/or recesses through which an x-ray beam is directed. The focal length of the material may be decreased or increased by increasing or decreasing, respectively, the number of slots (or recesses) through which the x-ray beam is directed, while fine tuning of the focal length is accomplished by rotation of the material so as to change the path length of the x-ray beam through the aligned cylindrical slows. X-ray analysis of a fixed point in a solid material may be performed by scanning the energy of the x-ray beam while rotating the material to maintain the beam's focal point at a fixed point in the specimen undergoing analysis.

  14. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

    PubMed

    Kimonis, V; DiGiovanna, J J; Yang, J M; Doyle, S Z; Bale, S J; Compton, J G

    1994-12-01

    Mutations in keratin 9 have been found in families with an epidermolytic form of palmar-plantar keratoderma (PPK). In another form of PPK (Unna-Thost type), epidermolysis is not observed histologically. We studied a pedigree with this non-epidermolytic form of PPK. By gene linkage analysis, the type I keratin locus could be excluded but complete linkage with the type II keratin region was found. Sequence analysis identified a single base change in the amino-terminal V1 variable subdomain of keratin 1, which caused a lysine to isoleucine substitution. This non-conservative mutation completely cosegregated with the disease and was not observed in 50 unrelated unaffected individuals. An examination of keratin amino-terminal sequences revealed a previously unreported 22-residue window in the V1 subdomain that is conserved among most type II keratins. The altered lysine is an invariant residue in this conserved sequence. Previously described keratin mutations affect the central regions important for filament assembly and stability, and cause diseases characterized by cellular degeneration or disruption. This is the first disease mutation in a keratin chain variable end region. The observation that it is not associated with epidermolysis supports the concept that the amino-terminal domain of keratins may be involved in supramolecular interactions of keratin filaments rather than stability. Therefore, hyperkeratosis associated with this mutation may be due to perturbations in the interactions of the keratin end domain with other cellular components.

  15. Statistical earthquake focal mechanism forecasts

    NASA Astrophysics Data System (ADS)

    Kagan, Yan Y.; Jackson, David D.

    2014-04-01

    Forecasts of the focal mechanisms of future shallow (depth 0-70 km) earthquakes are important for seismic hazard estimates and Coulomb stress, and other models of earthquake occurrence. Here we report on a high-resolution global forecast of earthquake rate density as a function of location, magnitude and focal mechanism. In previous publications we reported forecasts of 0.5° spatial resolution, covering the latitude range from -75° to +75°, based on the Global Central Moment Tensor earthquake catalogue. In the new forecasts we have improved the spatial resolution to 0.1° and the latitude range from pole to pole. Our focal mechanism estimates require distance-weighted combinations of observed focal mechanisms within 1000 km of each gridpoint. Simultaneously, we calculate an average rotation angle between the forecasted mechanism and all the surrounding mechanisms, using the method of Kagan & Jackson proposed in 1994. This average angle reveals the level of tectonic complexity of a region and indicates the accuracy of the prediction. The procedure becomes problematical where longitude lines are not approximately parallel, and where shallow earthquakes are so sparse that an adequate sample spans very large distances. North or south of 75°, the azimuths of points 1000 km away may vary by about 35°. We solved this problem by calculating focal mechanisms on a plane tangent to the Earth's surface at each forecast point, correcting for the rotation of the longitude lines at the locations of earthquakes included in the averaging. The corrections are negligible between -30° and +30° latitude, but outside that band uncorrected rotations can be significantly off. Improved forecasts at 0.5° and 0.1° resolution are posted at http://eq.ess.ucla.edu/kagan/glob_gcmt_index.html.

  16. Focal hyperhidrosis: diagnosis and management.

    PubMed

    Haider, Aamir; Solish, Nowell

    2005-01-01

    Hyperhidrosis, a condition characterized by excessive sweating, can be generalized or focal. Generalized hyperhidrosis involves the entire body and is usually part of an underlying condition, most often an infectious, endocrine or neurologic disorder. Focal hyperhidrosis is idiopathic, occurring in otherwise healthy people. It affects 1 or more body areas, most often the palms, armpits, soles or face. Almost 3% of the general population, largely people aged between 25 and 64 years, experience hyperhidrosis. The condition carries a substantial psychological and social burden, since it interferes with daily activities. However, patients rarely seek a physician's help because many are unaware that they have a treatable medical disorder. Early detection and management of hyperhidrosis can significantly improve a patient's quality of life. There are various topical, systemic, surgical and nonsurgical treatments available with efficacy rates greater than 90%-95%.

  17. Focal hyperhidrosis: diagnosis and management

    PubMed Central

    Haider, Aamir; Solish, Nowell

    2005-01-01

    HYPERHIDROSIS, A CONDITION CHARACTERIZED by excessive sweating, can be generalized or focal. Generalized hyperhidrosis involves the entire body and is usually part of an underlying condition, most often an infectious, endocrine or neurologic disorder. Focal hyperhidrosis is idiopathic, occurring in otherwise healthy people. It affects 1 or more body areas, most often the palms, armpits, soles or face. Almost 3% of the general population, largely people aged between 25 and 64 years, experience hyperhidrosis. The condition carries a substantial psychological and social burden, since it interferes with daily activities. However, patients rarely seek a physician's help because many are unaware that they have a treatable medical disorder. Early detection and management of hyperhidrosis can significantly improve a patient's quality of life. There are various topical, systemic, surgical and nonsurgical treatments available with efficacy rates greater than 90%–95%. PMID:15632408

  18. Variable focal length deformable mirror

    DOEpatents

    Headley, Daniel; Ramsey, Marc; Schwarz, Jens

    2007-06-12

    A variable focal length deformable mirror has an inner ring and an outer ring that simply support and push axially on opposite sides of a mirror plate. The resulting variable clamping force deforms the mirror plate to provide a parabolic mirror shape. The rings are parallel planar sections of a single paraboloid and can provide an on-axis focus, if the rings are circular, or an off-axis focus, if the rings are elliptical. The focal length of the deformable mirror can be varied by changing the variable clamping force. The deformable mirror can generally be used in any application requiring the focusing or defocusing of light, including with both coherent and incoherent light sources.

  19. OLMSTED SYNDROME: REPORT OF TWO CASES

    PubMed Central

    Tharini, G K; Hema, N; Jayakumar, S; Parveen, B

    2011-01-01

    Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma. One of our patients also had woolly hair from birth and flexion contracture of a digit, while the other had pseudoainhum. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made. PMID:22121289

  20. [Asterixis in focal brain lesions].

    PubMed

    Velasco, F; Gomez, J C; Zarranz, J J; Lambarri, I; Ugalde, J

    2004-05-01

    Asterixis is a motor control disorder characterized by the presence of abnormal movements of the lower limbs in the vertical plane during posture maintenance. Asterixis is usually bilateral and associated with toxic-metabolic metabolic encephalopathies. Unilateral asterixis is less frequent and it normally indicates focal brain damage. We report the cases of four patients (two males/two females), aged 57 to 83 years, suffering from uni or bilateral asterixis associated with focal brain damage. All patients underwent CT brain scan and a neurophysiological study (parietal EMG and/or PES). In addition, any toxic-metabolic cause that could be produced by this clinical phenomenon was ruled out with the appropriate testing. Unilateral asterixis is a clinical symptom that may indicate the presence of focal brain damage. Often, it is ignored or overlooked during routine neurological examinations. On the other hand, the presence of a bilateral asterixis is not always indicative of a toxic-metabolic encephalopathy.Rarely, such as in one of the cases herein presented, bilateral asterixis can also appear associated with structural brain lesions. Although asterixis diagnosis is fundamentally clinical, the neurophysiological study contributes to verify the diagnosis.

  1. MIPAS focal-plane optics

    NASA Astrophysics Data System (ADS)

    Bokhove, Henk; Smorenburg, C.; Visser, H.

    1993-11-01

    The Michelson Interferometer for Passive Atmospheric Sounding (MIPAS) has been selected by ESA for the ENVISAT-Mission, scheduled for launch in 1998. The instrument will measure the concentration of a number of atmospheric trace gases in the earth atmosphere in a spectral region from 4.15 - 14.6 micrometers . Within this region measurements are performed with high spectral resolution. The MIPAS optical system consists of scan mirrors, a telescope, a Michelson interferometer, an afocal reducer and a focal plane assembly. TNO Institute of Applied Physics is involved in the design and development of the afocal reducer and the focal plane assembly. The beam reducing optics of the afocal reducer consist of 2 concave and one convex mirror. Both the housing and the mirrors are made of aluminum to ensure temperature invariance. The optics of the focal plane assembly consist of aluminum mirrors, dichroic beamsplitters and Ge lenses in front of the detectors. The optical/mechanical design is developed to the level that phase C2/D activities can start.

  2. Persistent Focal Behavior and Physical Activity Performance

    ERIC Educational Resources Information Center

    Erfle, Stephen E.

    2014-01-01

    This article examines the proclivity and performance attributes of focal students across time and activities using data from 9,345 students. Three systematic focal behavior partitions are examined: Across activities, across time, and across activities and time. A student's performance is focal if it ends in 0 or 5 for push-ups and 0 for…

  3. [Cutaneous myxoma (focal dermal mucinosis)].

    PubMed

    Senff, H; Kuhlwein, A; Jänner, M; Schäfer, R

    1988-09-01

    Two cases of cutaneous myxoma are presented. In case 1 the cutaneous myxoma was localized on the left thumb and clinically resembled a pyogenic granuloma. In case 2 it was found at the left nipple. The benign cutaneous tumor may herald a cardiac myxoma and other conditions. Thus, a cutaneous myxoma should be accepted as an indication for thorough investigation of the whole body at regular intervals. As there are neither clinically nor histologically adequate criteria for differentiation, cutaneous myxoma and focal dermal mucinosis can be considered as variants of a single entity.

  4. Focal epithelial hyperplasia: Heck disease.

    PubMed

    Cohen, P R; Hebert, A A; Adler-Storthz, K

    1993-09-01

    Two sisters of Mexican ancestry had focal epithelial hyperplasia (FEH). The lesions on the oral mucosa of the older child were initially misinterpreted as representing sexual abuse. Microscopic evaluation of a hematoxylin and eosin-stained section from a lower lip papule demonstrated the histologic features of FEH. Although human papillomavirus (HPV) type 13 and HPV32 have been most consistently present in FEH lesions, types 6, 11, 13, and 32 were not detected in the paraffin-embedded tissue specimen of our patient using an in situ hybridization technique. The lesions persisted or recurred during management using destructive modalities; subsequently, they completely resolved spontaneously.

  5. Focal epithelial hyperplasia in Sweden.

    PubMed

    Axéll, T; Hammarström, L; Larsson, A

    1981-01-01

    A prevalence of 0.11% of focal epithelial hyperplasia (FEH) was found among 20,333 adult Swedes. There was no sex difference, the lesion was most prevalent in age groups above 45 years and the lesion was most frequent on the tongue. The frequency of FEH in 15,132 consecutive routine biopsies was 0.26%. Four FEH-cells were ultrastructurally examined. They exhibited a clear cytoplasm with scattered ribosomes, a peripheral condensation of tonofilaments, a central aggregation of chromatin clumps with loss of nuclear membrane and an accumulation of desmosome fragments. No viral particles could be identified in these FEH-cells.

  6. SNAP Satellite Focal Plane Development

    SciTech Connect

    Bebek, C.; Akerlof, C.; Aldering, G.; Amanullah, R.; Astier, P.; Baltay, C.; Barrelet, E.; Basa, S.; Bercovitz, J.; Bergstrom, L.; Berstein, G.P.; Bester, M.; Bohlin, R.; Bonissent, A.; Bower, C.; Campbell, M.; Carithers, W.; Commins, E.; Day, C.; Deustua, S.; DiGennaro, R.; Ealet, A.; Ellis, R.; Emmett, W.; Eriksson, M.; Fouchez,D.; Fruchter, A.; Genat, J-F.; Goldhaber, G.; Goobar, A.; Groom, D.; Heetderks, H.; Holland, S.; Huterer, D.; Johnson, W.; Kadel, R.; Karcher,A.; Kim, A.; Kolbe, W.; Lafever, R.; Lamoureaux, J.; Lampton, M.; Lefevre, O.; Levi, M.; Levin, D.; Linder, E.; Loken, S.; Malina, R.; Mazure, A.; McKay, T.; McKee, S.; Miquel, R.; Morgan, N.; Mortsell, E.; Mostek, N.; Mufson, S.; Musser, J.; Roe, N.; Nugent, P.; Oluseyi, H.; Pain, R.; Palaio, N.; Pankow, D.; Perlmutter, S.; Prieto, E.; Rabinowitz,D.; Refregier, A.; Rhodes, J.; Schubnell, M.; Sholl, M.; Smadja, G.; Smith, R.; Smoot, G.; Snyder, J.; Spadafora, A.; Szymkowiak, A.; Tarle,G.; Taylor, K.; Tilquin, A.; Tomasch, A.; Vincent, D.; von der Lippe, H.; Walder, J-P.; Wang, G.

    2003-07-07

    The proposed SuperNova/Acceleration Probe (SNAP) mission will have a two-meter class telescope delivering diffraction-limited images to an instrumented 0.7 square degree field in the visible and near-infrared wavelength regime. The requirements for the instrument suite and the present configuration of the focal plane concept are presented. A two year R&D phase, largely supported by the Department of Energy, is just beginning. We describe the development activities that are taking place to advance our preparedness for mission proposal in the areas of detectors and electronics.

  7. Focal Plane Instrumentation of VERITAS

    NASA Astrophysics Data System (ADS)

    Nagai, T.; McKay, R.; Sleege, G.; Petry, D.

    VERITAS is a new atmospheric Cherenkov imaging telescope array to detect very high energy gamma rays above 100 GeV. The array is located in southern Arizona, USA, at an altitude of 1270m above see level. The array currently consists of four 12 m telescopes, structurally resembling the Davis-Cotton design of the Whipple 10 m telescope. The VERITAS focal plane instruments are equipped with high-resolution (499 pixels) fast photo-multiplier-tube (PMT) cameras covering a 3.5 degree field of view with 0.148 degree pixel separation. Light concentrators reduce the dead-space between PMTs to 25% and shield the PMTs from ambient light. The PMTs are connected to high-speed pre-amplifiers improving the signal to noise ratio and allow single photoelectron measurements in situ at operating voltage. Current monitor circuits in the focus box provide real-time monitoring of the anode currents for each pixel and ambient conditions of the focus box. A charge injection system installed in the focus box allows daytime testing of the trigger and data acquisition system by injecting pulses of variable amplitude and length into pre-amplifier stage. A detailed description of the VERITAS focal plane instruments will be given in this presentation.

  8. Multi-focal multiphoton lithography.

    PubMed

    Ritschdorff, Eric T; Nielson, Rex; Shear, Jason B

    2012-03-01

    Multiphoton lithography (MPL) provides unparalleled capabilities for creating high-resolution, three-dimensional (3D) materials from a broad spectrum of building blocks and with few limitations on geometry, qualities that have been key to the design of chemically, mechanically, and biologically functional microforms. Unfortunately, the reliance of MPL on laser scanning limits the speed at which fabrication can be performed, making it impractical in many instances to produce large-scale, high-resolution objects such as complex micromachines, 3D microfluidics, etc. Previously, others have demonstrated the possibility of using multiple laser foci to simultaneously perform MPL at numerous sites in parallel, but use of a stage-scanning system to specify fabrication coordinates resulted in the production of identical features at each focal position. As a more general solution to the bottleneck problem, we demonstrate here the feasibility for performing multi-focal MPL using a dynamic mask to differentially modulate foci, an approach that enables each fabrication site to create independent (uncorrelated) features within a larger, integrated microform. In this proof-of-concept study, two simultaneously scanned foci produced the expected two-fold decrease in fabrication time, and this approach could be readily extended to many scanning foci by using a more powerful laser. Finally, we show that use of multiple foci in MPL can be exploited to assign heterogeneous properties (such as differential swelling) to micromaterials at distinct positions within a fabrication zone.

  9. Multi-focal multiphoton lithography.

    PubMed

    Ritschdorff, Eric T; Nielson, Rex; Shear, Jason B

    2012-03-01

    Multiphoton lithography (MPL) provides unparalleled capabilities for creating high-resolution, three-dimensional (3D) materials from a broad spectrum of building blocks and with few limitations on geometry, qualities that have been key to the design of chemically, mechanically, and biologically functional microforms. Unfortunately, the reliance of MPL on laser scanning limits the speed at which fabrication can be performed, making it impractical in many instances to produce large-scale, high-resolution objects such as complex micromachines, 3D microfluidics, etc. Previously, others have demonstrated the possibility of using multiple laser foci to simultaneously perform MPL at numerous sites in parallel, but use of a stage-scanning system to specify fabrication coordinates resulted in the production of identical features at each focal position. As a more general solution to the bottleneck problem, we demonstrate here the feasibility for performing multi-focal MPL using a dynamic mask to differentially modulate foci, an approach that enables each fabrication site to create independent (uncorrelated) features within a larger, integrated microform. In this proof-of-concept study, two simultaneously scanned foci produced the expected two-fold decrease in fabrication time, and this approach could be readily extended to many scanning foci by using a more powerful laser. Finally, we show that use of multiple foci in MPL can be exploited to assign heterogeneous properties (such as differential swelling) to micromaterials at distinct positions within a fabrication zone. PMID:22282105

  10. Primary focal hyperhidrosis: diagnosis and management. .

    PubMed

    Wang, Rena; Solish, Nowell; Murray, Christian A

    2008-12-01

    Primary focal hyperhidrosis is a common and serious medical condition that causes considerable psychosocial morbidity. Diagnostic and effective management strategies can improve patients' quality of living dramatically.

  11. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

    PubMed

    Irvine, A D; McLean, W H

    1999-05-01

    Keratins are obligate heterodimer proteins that form the intermediate filament cytoskeleton of all epithelial cells. Keratins are tissue and differentiation specific and are expressed in pairs of types I and II proteins. The spectrum of inherited human keratin diseases has steadily increased since the causative role of mutations in the basal keratinocyte keratins 5 and 14 in epidermolysis bullosa simplex (EBS) was first reported in 1991. At the time of writing, mutations in 15 epithelial keratins and two trichocyte keratins have been associated with human diseases which include EBS, bullous congenital ichthyosiform erythroderma, epidermolytic palmoplantar keratoderma, ichthyosis bullosa of Siemens, diffuse and focal non-epidermolytic palmoplantar keratoderma, pachyonychia congenita and monilethrix. Mutations in extracutaneous keratins have been reported in oral white sponge naevus and Meesmann's corneal dystrophy. New subtleties of phenotype-genotype correlation are emerging within the keratin diseases with widely varying clinical presentations attributable to similar mutations within the same keratin. Mutations in keratin-associated proteins have recently been reported for the first time. This article reviews clinical, ultrastructural and molecular aspects of all the keratin diseases described to date and delineates potential future areas of research in this field.

  12. Optimal focal-plane restoration

    NASA Technical Reports Server (NTRS)

    Reichenbach, Stephen E.; Park, Stephen K.

    1989-01-01

    Image restoration can be implemented efficiently by calculating the convolution of the digital image and a small kernel during image acquisition. Processing the image in the focal-plane in this way requires less computation than traditional Fourier-transform-based techniques such as the Wiener filter and constrained least-squares filter. Here, the values of the convolution kernel that yield the restoration with minimum expected mean-square error are determined using a frequency analysis of the end-to-end imaging system. This development accounts for constraints on the size and shape of the spatial kernel and all the components of the imaging system. Simulation results indicate the technique is effective and efficient.

  13. Focal epithelial hyperplasia - an update.

    PubMed

    Said, Ahmed K; Leao, Jair C; Fedele, Stefano; Porter, Stephen R

    2013-07-01

    Focal epithelial hyperplasia (FEH) is an asymptomatic benign mucosal disease, which is mostly observed in specific groups in certain geographical regions. FEH is usually a disease of childhood and adolescence and is generally associated with people who live in poverty and of low socioeconomic status. Clinically, FEH is typically characterized by multiple, painless, soft, sessile papules, plaques or nodules, which may coalesce to give rise to larger lesions. Human papillomavirus (HPV), especially genotypes 13 and 32, have been associated and detected in the majority of FEH lesions. The clinical examination and social history often allow diagnosis, but histopathological examination of lesional tissue is usually required to confirm the exact diagnosis. FEH sometimes resolves spontaneously however, treatment is often indicated as a consequence of aesthetic effects or any interference with occlusion. There remains no specific therapy for FEH, although surgical removal, laser excision or possibly topical antiviral agents may be of benefit. There remains no evidence that FEH is potentially malignant.

  14. Treatment of focal dystonias with botulinum neurotoxin

    PubMed Central

    Benecke, Reiner; Blitzer, Andrew; Comella, Cynthia L.

    2016-01-01

    This is a review on the use of injections of botulinum toxin for the treatment of focal dystonias. Disorders covered include cranial dystonia, cervical dystonia, spasmodic dysphonia, and focal hand dystonia. Considered are clinical aspects, alternative treatment strategies and principles of use of botulinum toxin injections. PMID:19103214

  15. Focal brain inflammation and autism.

    PubMed

    Theoharides, Theoharis C; Asadi, Shahrzad; Patel, Arti B

    2013-04-09

    Increasing evidence indicates that brain inflammation is involved in the pathogenesis of neuropsychiatric diseases. Autism spectrum disorders (ASD) are characterized by social and learning disabilities that affect as many as 1/80 children in the USA. There is still no definitive pathogenesis or reliable biomarkers for ASD, thus significantly curtailing the development of effective therapies. Many children with ASD regress at about age 3 years, often after a specific event such as reaction to vaccination, infection, stress or trauma implying some epigenetic triggers, and may constitute a distinct phenotype. ASD children respond disproportionally to stress and are also affected by food and skin allergies. Corticotropin-releasing hormone (CRH) is secreted under stress and together with neurotensin (NT) stimulates mast cells and microglia resulting in focal brain inflammation and neurotoxicity. NT is significantly increased in serum of ASD children along with mitochondrial DNA (mtDNA). NT stimulates mast cell secretion of mtDNA that is misconstrued as an innate pathogen triggering an auto-inflammatory response. The phosphatase and tensin homolog (PTEN) gene mutation, associated with the higher risk of ASD, which leads to hyper-active mammalian target of rapamycin (mTOR) signalling that is crucial for cellular homeostasis. CRH, NT and environmental triggers could hyperstimulate the already activated mTOR, as well as stimulate mast cell and microglia activation and proliferation. The natural flavonoid luteolin inhibits mTOR, mast cells and microglia and could have a significant benefit in ASD.

  16. Early vision and focal attention

    NASA Astrophysics Data System (ADS)

    Julesz, Bela

    1991-07-01

    At the thirty-year anniversary of the introduction of the technique of computer-generated random-dot stereograms and random-dot cinematograms into psychology, the impact of the technique on brain research and on the study of artificial intelligence is reviewed. The main finding-that stereoscopic depth perception (stereopsis), motion perception, and preattentive texture discrimination are basically bottom-up processes, which occur without the help of the top-down processes of cognition and semantic memory-greatly simplifies the study of these processes of early vision and permits the linking of human perception with monkey neurophysiology. Particularly interesting are the unexpected findings that stereopsis (assumed to be local) is a global process, while texture discrimination (assumed to be a global process, governed by statistics) is local, based on some conspicuous local features (textons). It is shown that the top-down process of "shape (depth) from shading" does not affect stereopsis, and some of the models of machine vision are evaluated. The asymmetry effect of human texture discrimination is discussed, together with recent nonlinear spatial filter models and a novel extension of the texton theory that can cope with the asymmetry problem. This didactic review attempts to introduce the physicist to the field of psychobiology and its problems-including metascientific problems of brain research, problems of scientific creativity, the state of artificial intelligence research (including connectionist neural networks) aimed at modeling brain activity, and the fundamental role of focal attention in mental events.

  17. Focal liver lesions found incidentally.

    PubMed

    Algarni, Abdullah A; Alshuhri, Abdullah H; Alonazi, Majed M; Mourad, Moustafa Mabrouk; Bramhall, Simon R

    2016-03-28

    Incidentally found focal liver lesions are a common finding and a reason for referral to hepatobiliary service. They are often discovered in patients with history of liver cirrhosis, colorectal cancer, incidentally during work up for abdominal pain or in a trauma setting. Specific points should considered during history taking such as risk factors of liver cirrhosis; hepatitis, alcohol consumption, substance exposure or use of oral contraceptive pills and metabolic syndromes. Full blood count, liver function test and tumor markers can act as a guide to minimize the differential diagnosis and to categorize the degree of liver disease. Imaging should start with B-mode ultrasound. If available, contrast enhanced ultrasound is a feasible, safe, cost effective option and increases the ability to reach a diagnosis. Contrast enhanced computed tomography should be considered next. It is more accurate in diagnosis and better to study anatomy for possible operation. Contrast enhanced magnetic resonance is the gold standard with the highest sensitivity. If doubt still remains, the options are biopsy or surgical excision. PMID:27028805

  18. Biostatistical evaluation of focal hepatic preneoplasia.

    PubMed

    Kopp-Schneider, Annette

    2003-01-01

    Qualitative analyses of focal hepatic preneoplasia are relatively easy and fast but hypothesis tests based on these analyses often lack statistical power. Evaluating focal hepatic preneoplasia quantitatively, on the other hand, requires more effort but is rewarded by an increased ability to detect differences between treatment groups and by the possibility to investigate the mechanism of a treatment under study. Due to the stereological problems inherent in the data a statistical analysis that concentrates on the evaluation of area fraction will provide clear results whereas the analysis of focal transection density and size distribution can produce misleading results. In addition, the area fraction is a valid variable even in the presence of confluent foci. The number and size distribution of focal transections in liver sections cannot be directly translated to the number and sizes of foci in the liver. As no general statements about the relationship between focal transection density and foci density as well as between focal transection size and foci size distribution can be made, there is need for a parametric mechanistic model to link the number and size distribution of focal transections to those of the underlying foci. The stereological problem therefore can be avoided by introducing a model for foci appearance and change of volume that then can be used to conclude whether the treatment induces foci and whether it changes their volume.

  19. Do focal colors look particularly "colorful"?

    PubMed

    Witzel, Christoph; Franklin, Anna

    2014-04-01

    If the most typical red, yellow, green, and blue were particularly colorful (i.e., saturated), they would "jump out to the eye." This would explain why even fundamentally different languages have distinct color terms for these focal colors, and why unique hues play a prominent role in subjective color appearance. In this study, the subjective saturation of 10 colors around each of these focal colors was measured through a pairwise matching task. Results show that subjective saturation changes systematically across hues in a way that is strongly correlated to the visual gamut, and exponentially related to sensitivity but not to focal colors.

  20. Advanced approaches to focal plane integration

    NASA Astrophysics Data System (ADS)

    Nelson, R. D.; Smith, E. C., Jr.

    1980-01-01

    Both visible and infrared focal plane assemblies have common architectural driving parameters which guide their design approaches. The key drivers for advanced focal plane assemblies (FPA) are: the detector type and performance required; the number of detector chips; the packaging density; and the geometry. The impact of these drivers is seen to determine the engineering compromises necessary to establish FPA design approach. Several new designs are discussed which show a range of applications from single detector assemblies to monolithic detector chips with on-chip signal processing. The main objective of many advanced designs is to integrate the focal plane components in order to reduce power and reduce the number of interconnections.

  1. Unilateral Isolated Proximal Femoral Focal Deficiency

    PubMed Central

    Doğer, Emek; Köpük, Şule Y.; Çakıroğlu, Yiğit; Çakır, Özgür; Yücesoy, Gülseren

    2013-01-01

    Objective. To discuss a patient with a prenatal diagnosis of unilateral isolated femoral focal deficiency. Case. Antenatal diagnosis of unilateral isolated femoral focal deficiency was made at 20 weeks of gestation. The length of left femur was shorter than the right, and fetal femur length was below the fifth percentile. Proximal femoral focal deficiency was diagnosed. After delivery, the diagnosis was confirmed with skeletal radiographs and magnetic resonance imaging. In prenatal ultrasonographic examination, the early recognition and exclusion of skeletal dysplasias is important; moreover, treatment plans should be initiated, and valuable information should be provided to the family. PMID:23984135

  2. Focal Cortical Dysplasia in Childhood Epilepsy.

    PubMed

    Shaker, Tarek; Bernier, Anne; Carmant, Lionel

    2016-05-01

    Focal cortical dysplasia is a common cause of medication resistant epilepsy. A better understanding of its presentation, pathophysiology and consequences have helped us improved its treatment and outcome. This paper reviews the most recent classification, pathophysiology and imaging findings in clinical research as well as the knowledge gained from studying genetic and lesional animal models of focal cortical dysplasia. This review of this recently gained knowledge will most likely help develop new research models and new therapeutic targets for patients with epilepsy associated with focal cortical dysplasia. PMID:27544467

  3. Primary focal hyperhidrosis: scope of the problem.

    PubMed

    Glaser, Dee Anna; Hebert, Adelaide A; Pariser, David M; Solish, Nowell

    2007-05-01

    Focal hyperhidrosis (HH) can cause debilitating reductions in the physical and emotional quality of life (QOL) of patients, which can result in numerous restrictions of a patient's personal and professional lifestyle and activities. A variety of treatment options are available for primary focal HH, including topical and oral agents, tap water iontophoresis (TWI), botulinum toxin type A (BTX-A), and surgery. Studies evaluating BTX-A (Botox) treatment for palmar, plantar, and facial HH reveal that BTX-A provides effective treatment of primary focal HH, with a reasonable duration of effect, and has a good safety profile. Physicians should understand the impact of focal HH and the need to stay abreast of the available treatment options to provide the best care for patients.

  4. An uncommon focal epithelial hyperplasia manifestation.

    PubMed

    dos Santos-Pinto, Lourdes; Giro, Elisa Maria Aparecida; Pansani, Cyneu Aguiar; Ferrari, Junia; Massucato, Elaine Maria Sgavioli; Spolidório, Luis Carlos

    2009-01-01

    Focal epithelial hyperplasia is a rare, contagious disease associated with infection of the oral mucosa by human papillomavirus types 13 or 32, characterized by multiple soft papules of the same color as the adjacent normal mucosa. It mainly affects the lower lip, buccal mucosa, and tongue. The purpose of this case report was to describe a rare verrucal lesion located in the upper gingiva that was clinically and histologically consistent with focal epithelial hyperplasia. PMID:19941767

  5. Human keratin diseases: hereditary fragility of specific epithelial tissues.

    PubMed

    Corden, L D; McLean, W H

    1996-12-01

    Keratins are heteropolymeric proteins which form the intermediate filament cytoskeleton in epithelial cells. Since 1991, mutations in several keratin genes have been found to cause a variety of human diseases affecting the epidermis and other epithelial structures. Epidermolysis bullosa simplex (EBS) was the first mechanobullous disease for which the underlying genetic lesion was found, with mutations in both the K5 and K14 genes rendering basal epidermal keratinocytes less resilient to trauma, resulting in skin fragility. The site of mutation in the keratin protein correlates with phenotypic severity in this disorder. Since mutations were identified in the basal cell keratins, the total number of keratin genes associated with diseases has risen to eleven. The rod domains of suprabasal keratins K1 and K10 are mutated in bullous congenital ichthyosiform erythroderma (BCIE; also called epidermolytic hyperkeratosis, EH) and mosaicism for K1/K10 mutations results in a nevoid distribution of EH. An unusual mutation in the VI domain of K1 has also been found to cause diffuse non-epidermolytic palmoplantar keratoderma (DNEPPK). Mutations in palmoplantar specific keratin K9 cause epidermolytic palmoplantar keratoderma (EPPK) and mutations in the late differentiation suprabasal keratin K2e cause ichthyosis bullosa of Siemens (IBS). In the last year or so, mutations were discovered in differentiation specific keratins K6a and K16 causing pachyonychia congenita type 1 and K17 mutations occur in pachyonychia congenita type 2. K16 and K17 mutations have also been reported to produce phenotypes with little or no nail changes: K16 mutations can present as focal non-epidermolytic palmoplantar keratoderma (NEPPK) and K17 mutations can result in a phenotype resembling steatocystoma multiplex. Recently, mutation of mucosal keratin pair K4 and K13 has been shown to underlie white sponge nevus (WSN). This year, the first mutations in a keratin-associated protein, plectin, were shown to

  6. Sighting optics including an optical element having a first focal length and a second focal length

    SciTech Connect

    Crandall, David Lynn

    2011-08-01

    One embodiment of sighting optics according to the teachings provided herein may include a front sight and a rear sight positioned in spaced-apart relation. The rear sight includes an optical element having a first focal length and a second focal length. The first focal length is selected so that it is about equal to a distance separating the optical element and the front sight and the second focal length is selected so that it is about equal to a target distance. The optical element thus brings into simultaneous focus, for a user, images of the front sight and the target.

  7. COMPARATIVE THERAPEUTIC EVALUATION OF DIFFERENT TOPICALS AND NARROW BAND ULTRAVIOLET B THERAPY COMBINED WITH SYSTEMIC METHOTREXATE IN THE TREATMENT OF PALMOPLANTAR PSORIASIS

    PubMed Central

    Gupta, Sunil K; Singh, K K; Lalit, Mohan

    2011-01-01

    Background: The incidence of uncomplicated psoriasis is 1–3% in the general population. The involvement of palm and sole is seen in 7–14.5% of cases. There are different topicals and systemic therapies available for treating the case of psoriasis but none is satisfactory for longer duration. Aim: The study involved the comparative therapeutic evaluation of the different topical regimens and narrow band ultraviolet B (NB-UVB) therapy in combination with systemic methotrexate. Materials and Methods: The study was held in out-patient department of Skin, VD and Leprosy of B.R.D. Medical College, Gorakhpur, from July 2007 to December 2008. The group included 98 new cases of palmoplantar psoriasis. These cases were divided into eight groups according to the eight regimens involved in the study. The severity of psoriasis was assessed by the ESIF (erythema, scaling, induration and fissuring) score. Results: The study showed that all the regimens had significant response rates. The combination of NB-UVB with systemic methotrexate had maximum response rate (64.85±4.52%) that was statistically significant (paired “t” at 16d.f. = 33.329, P<0.001) with minimum number of recurrences after stopping the treatment. The combination of halobetasol ointment with systemic methotrexate also had significant response rate (paired “t” at 19d.f. = 13.5183, P<0.001) but had maximum number of cases with recurrence (70%) after stopping the treatment. Conclusion: These results suggest that the combination of every regimen with systemic methotrexate resulted in an early and a good improvement in the quality of life of patients suffering from psoriasis. It also shows that NB-UVB in combination with systemic methotrexate is more efficacious and has minimum recurrence rate and side effects in the treatment of palmoplantar psoriasis. PMID:21716541

  8. NMDA receptor binding in focal epilepsies

    PubMed Central

    McGinnity, C J; Koepp, M J; Hammers, A; Riaño Barros, D A; Pressler, R M; Luthra, S; Jones, P A; Trigg, W; Micallef, C; Symms, M R; Brooks, D J; Duncan, J S

    2015-01-01

    Objective To demonstrate altered N-methyl-d-aspartate (NMDA) receptor availability in patients with focal epilepsies using positron emission tomography (PET) and [18F]GE-179, a ligand that selectively binds to the open NMDA receptor ion channel, which is thought to be overactive in epilepsy. Methods Eleven patients (median age 33 years, 6 males) with known frequent interictal epileptiform discharges had an [18F]GE-179 PET scan, in a cross-sectional study. MRI showed a focal lesion but discordant EEG changes in two, was non-localising with multifocal EEG abnormalities in two, and was normal in the remaining seven patients who all had multifocal EEG changes. Individual patient [18F]GE-179 volume-of-distribution (VT) images were compared between individual patients and a group of 10 healthy controls (47 years, 7 males) using Statistical Parametric Mapping. Results Individual analyses revealed a single cluster of focal VT increase in four patients; one with a single and one with multifocal MRI lesions, and two with normal MRIs. Post hoc analysis revealed that, relative to controls, patients not taking antidepressants had globally increased [18F]GE-179 VT (+28%; p<0.002), and the three patients taking an antidepressant drug had globally reduced [18F]GE-179 VT (−29%; p<0.002). There were no focal abnormalities common to the epilepsy group. Conclusions In patients with focal epilepsies, we detected primarily global increases of [18F]GE-179 VT consistent with increased NMDA channel activation, but reduced availability in those taking antidepressant drugs, consistent with a possible mode of action of this class of drugs. [18F]GE-179 PET showed focal accentuations of NMDA binding in 4 out of 11 patients, with difficult to localise and treat focal epilepsy. PMID:25991402

  9. Focal Plane Metrology for the LSST Camera

    SciTech Connect

    A Rasmussen, Andrew P.; Hale, Layton; Kim, Peter; Lee, Eric; Perl, Martin; Schindler, Rafe; Takacs, Peter; Thurston, Timothy; /SLAC

    2007-01-10

    Meeting the science goals for the Large Synoptic Survey Telescope (LSST) translates into a demanding set of imaging performance requirements for the optical system over a wide (3.5{sup o}) field of view. In turn, meeting those imaging requirements necessitates maintaining precise control of the focal plane surface (10 {micro}m P-V) over the entire field of view (640 mm diameter) at the operating temperature (T {approx} -100 C) and over the operational elevation angle range. We briefly describe the hierarchical design approach for the LSST Camera focal plane and the baseline design for assembling the flat focal plane at room temperature. Preliminary results of gravity load and thermal distortion calculations are provided, and early metrological verification of candidate materials under cold thermal conditions are presented. A detailed, generalized method for stitching together sparse metrology data originating from differential, non-contact metrological data acquisition spanning multiple (non-continuous) sensor surfaces making up the focal plane, is described and demonstrated. Finally, we describe some in situ alignment verification alternatives, some of which may be integrated into the camera's focal plane.

  10. Measuring microfocus focal spots using digital radiography

    SciTech Connect

    Fry, David A

    2009-01-01

    Measurement of microfocus spot size can be important for several reasons: (1) Quality assurance during manufacture of microfocus tubes; (2) Tracking performance and stability of microfocus tubes; (3) Determining magnification (especially important for digital radiography where the native spatial resolution of the digital system is not adequate for the application); (4) Knowledge of unsharpness from the focal spot alone. The European Standard EN 12543-5 is based on a simple geometrical method of calculating focal spot size from unsharpness of high magnification film radiographs. When determining microfocus focal spot dimensions using unsharpness measurements both signal-to-noise (SNR) and magnification can be important. There is a maximum accuracy that is a function of SNR and therefore an optimal magnification. Greater than optimal magnification can be used but it will not increase accuracy.

  11. Solid-state curved focal plane arrays

    NASA Technical Reports Server (NTRS)

    Nikzad, Shouleh (Inventor); Hoenk, Michael (Inventor); Jones, Todd (Inventor)

    2010-01-01

    The present invention relates to curved focal plane arrays. More specifically, the present invention relates to a system and method for making solid-state curved focal plane arrays from standard and high-purity devices that may be matched to a given optical system. There are two ways to make a curved focal plane arrays starting with the fully fabricated device. One way, is to thin the device and conform it to a curvature. A second way, is to back-illuminate a thick device without making a thinned membrane. The thick device is a special class of devices; for example devices fabricated with high purity silicon. One surface of the device (the non VLSI fabricated surface, also referred to as the back surface) can be polished to form a curved surface.

  12. Actinic Granuloma with Focal Segmental Glomerulosclerosis

    PubMed Central

    Phasukthaworn, Ruedee; Chanprapaph, Kumutnart; Vachiramon, Vasanop

    2016-01-01

    Actinic granuloma is an uncommon granulomatous disease, characterized by annular erythematous plaque with central clearing predominately located on sun-damaged skin. The pathogenesis is not well understood, ultraviolet radiation is recognized as precipitating factor. We report a case of a 52-year-old woman who presented with asymptomatic annular erythematous plaques on the forehead and both cheeks persisting for 2 years. The clinical presentation and histopathologic findings support the diagnosis of actinic granuloma. During that period of time, she also developed focal segmental glomerulosclerosis. The association between actinic granuloma and focal segmental glomerulosclerosis needs to be clarified by further studies. PMID:27293392

  13. Hybrid Extrinsic Silicon Focal Plane Architecture

    NASA Astrophysics Data System (ADS)

    Pommerrenig, D. H.; Meinhardt, T.; Lowe, J.

    1981-02-01

    Large-area focal planes require mechanical assembly techniques which must be compatible with optical alignment, minimum deadspace, and cryogenic requirements in order to achieve optimum performance. Hybrid extrinsic silicon has been found particularly suitable for such an application. It will be shown that by choosing a large-area extrinsic silicon detector array which is hybrid-mated to a multiplicity of multiplexers a very cost-effective and high-density focal plane module can be assembled. Other advantages of this approach are inherent optical alignment and excellent performance.

  14. [Liver ultrasound: focal lesions and diffuse diseases].

    PubMed

    Segura Grau, A; Valero López, I; Díaz Rodríguez, N; Segura Cabral, J M

    2016-01-01

    Liver ultrasound is frequently used as a first-line technique for the detection and characterization of the most common liver lesions, especially those incidentally found focal liver lesions, and for monitoring of chronic liver diseases. Ultrasound is not only used in the Bmode, but also with Doppler and, more recently, contrast-enhanced ultrasound. It is mainly used in the diagnosis of diffuse liver diseases, such as steatosis or cirrhosis. This article presents a practical approach for diagnosis workup, in which the different characteristics of the main focal liver lesions and diffuse liver diseases are reviewed.

  15. [Antiperspirants for the therapy of focal hyperhidrosis].

    PubMed

    Streker, M; Kerscher, M

    2012-06-01

    In Europe often no clear distinction is made between deodorant and antiperspirant. Particularly in Germany, the labeling "deo" is used for both. Only antiperspirants are capable of influencing the activity of eccrine sweat glands. In the treatment of focal hyperhidrosis, the use of aluminum chloride solutions represents the first choice. The efficacy is well documented in a variety of studies. Subjective side effects include pruritus and - less often - irritant dermatitis, which can be treated symptomatically and usually does not require discontinuation of the treatment. Rare variants of focal hyperhidrosis like auriculotemporal syndrome, Ross syndrome and nevus sudoriferus also are suitable for treatment with topical aluminum chloride hexahydrate solutions. PMID:22653180

  16. Rasmussen's encephalitis presenting as focal cortical dysplasia.

    PubMed

    O'Rourke, D J; Bergin, A; Rotenberg, A; Peters, J; Gorman, M; Poduri, A; Cryan, J; Lidov, H; Madsen, J; Harini, C

    2014-01-01

    Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD) and discuss the literature on this topic. PMID:25667877

  17. Extensive Focal Epithelial Hyperplasia: A Case Report.

    PubMed

    Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

    2015-01-01

    Focal epithelial hyperplasia (FEH) or Heck's disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and histopathological features. Dental practitioner should be aware of these types of lesions and histopathological examination together and a careful clinical observation should be carried out for a definitive diagnosis.

  18. Computer Model Of Focal Plane Array

    NASA Astrophysics Data System (ADS)

    Thvedt, Tom A.; Willoughby, Charles T.; Salcido, Michael M.; Dereniak, Eustace L.

    1987-11-01

    This paper presents a computer program for simulation of an infrared focal plane array. Standard equations are used to support a menu driven program developed for an IBM personal computer. The terms and equations for each section are presented and samples of actual screen displays of a currently available device are also included. The program is intended to provide the user with a better capability to understand and to study the tradeoffs of fabrication parameters versus the focal plane array performance (i.e. CTE, both spatial and temporal dynamic range, MTF, and noise) used for an optical sensor system analysis. Only surface channel devices are considered in the simulation.

  19. Ambroxol-induced focal epileptic seizure.

    PubMed

    Lapenta, Leonardo; Morano, Alessandra; Fattouch, Jinane; Casciato, Sara; Fanella, Martina; Giallonardo, Anna Teresa; Di Bonaventura, Carlo

    2014-01-01

    It is well known that in epileptic patients some compounds and different drugs used for the treatment of comorbidities can facilitate or provoke seizures, this evidence regarding a wide spectrum of pharmacological categories. The potential facilitating factors usually include direct toxic effects or pharmacological interactions of either active ingredients or excipients. We report the case of a patient with drug-resistant epilepsy who experienced focal epileptic seizures, easily and constantly reproducible, after each administration of a cough syrup. This is, to our knowledge, the first electroencephalogram-documented case of focal epileptic seizures induced by cough syrup containing ambroxol as active ingredient.

  20. Crystal diffraction lens with variable focal length

    DOEpatents

    Smither, Robert K.

    1991-01-01

    A method and apparatus for altering the focal length of a focusing element o one of a plurality of pre-determined focal lengths by changing heat transfer within selected portions of the element by controlled quantities. Control over heat transfer is accomplished by manipulating one or more of a number of variables, including: the amount of heat or cold applied to surfaces; type of fluids pumped through channels for heating and cooling; temperatures, directions of flow and rates of flow of fluids; and placement of channels.

  1. Crystal diffraction lens with variable focal length

    DOEpatents

    Smither, R.K.

    1991-04-02

    A method and apparatus for altering the focal length of a focusing element of one of a plurality of pre-determined focal lengths by changing heat transfer within selected portions of the element by controlled quantities is disclosed. Control over heat transfer is accomplished by manipulating one or more of a number of variables, including: the amount of heat or cold applied to surfaces; type of fluids pumped through channels for heating and cooling; temperatures, directions of flow and rates of flow of fluids; and placement of channels. 19 figures.

  2. Ambroxol-induced focal epileptic seizure.

    PubMed

    Lapenta, Leonardo; Morano, Alessandra; Fattouch, Jinane; Casciato, Sara; Fanella, Martina; Giallonardo, Anna Teresa; Di Bonaventura, Carlo

    2014-01-01

    It is well known that in epileptic patients some compounds and different drugs used for the treatment of comorbidities can facilitate or provoke seizures, this evidence regarding a wide spectrum of pharmacological categories. The potential facilitating factors usually include direct toxic effects or pharmacological interactions of either active ingredients or excipients. We report the case of a patient with drug-resistant epilepsy who experienced focal epileptic seizures, easily and constantly reproducible, after each administration of a cough syrup. This is, to our knowledge, the first electroencephalogram-documented case of focal epileptic seizures induced by cough syrup containing ambroxol as active ingredient. PMID:24824664

  3. Focal myositis of the perioral musculature.

    PubMed

    Ellis, G L; Brannon, R B

    1979-10-01

    Focal myositis, a benign inflammatory pseudotumor, is a relatively newly defined clinicopathologic entity which arises as a rapidly enlarging swelling within an isolated skeletal muscle. It occurs most often in the lower extremity, and we are reporting what we believe to be the first cases of perioral involvement. There is no apparent age or sex preference. Focal myositis must be differentiated from neoplasm, nodular pseudosarcomatous fascilitis, proliferative myositis, myositis ossificans, polymyositis, and, in the oral region, salivary gland lesions and hypertrophic branchial myopathy. No lesions have recurred.

  4. Complex source description of focal regions.

    PubMed

    Monzon, Cesar; Forester, Donald W; Moore, Peter

    2006-04-01

    Closed-form solutions of the two-dimensional homogeneous wave equation are presented that provide focal-region descriptions corresponding to a converging bundle of rays. The solutions do have evanescent wave content and can be described as a source-sink pair or particle-antiparticle pair, collocated in complex space, with the complex location being critical in the determination of beam shape and focal region size. The wave solutions are not plagued by singularities, have a finite energy, and have a limitation on how small the focal size can get, with a penalty for limiting small spot sizes in the form of impractically high associated reactive energy. The electric-field-defined spot-size limiting value is 0.35lambda x 0.35lambda, which is about 38% of the Poynting-vector-defined minimum spot size (0.8lambda x 0.4lambda) and corresponds to a condition related to the maximum possible beam angle. A multiple set of solutions is introduced, and the elementary solutions are used to produce new solutions via superposition, resulting in fields with chiral character or with increased depth of focus. We do not claim generality, as the size of focal regions exhibited by the closed-form solutions has a lower bound and hence is not able to account for Pendry's "ideal lens" scenario. PMID:16604758

  5. Dual band QWIP focal plane array

    NASA Technical Reports Server (NTRS)

    Gunapala, Sarath D. (Inventor); Choi, Kwong Kit (Inventor); Bandara, Sumith V. (Inventor)

    2005-01-01

    A quantum well infrared photodetector (QWIP) that provides two-color image sensing. Two different quantum wells are configured to absorb two different wavelengths. The QWIPs are arrayed in a focal plane array (FPA). The two-color QWIPs are selected for readout by selective electrical contact with the two different QWIPs or by the use of two different wavelength sensitive gratings.

  6. MTI Focal Plane Assembly Design and Performance

    SciTech Connect

    Ballard, M.; Rienstra, J.L.

    1999-06-17

    The focal plane assembly for the Multispectral Thermal Imager (MTI) consists of sensor chip assemblies, optical filters, and a vacuum enclosure. Sensor chip assemblies, composed of linear detector arrays and readout integrated circuits, provide spatial resolution in the cross-track direction for the pushbroom imager. Optical filters define 15 spectral bands in a range from 0.45 {micro}m to 10.7 {micro}m. All the detector arrays are mounted on a single focal plane and are designed to operate at 75 K. Three pairs of sensor chip assemblies (SCAs) are required to provide cross-track coverage in all 15 spectral bands. Each pair of SCAs includes detector arrays made from silicon, iridium antimonide, and mercury cadmium telluride. Read out integrated circuits multiplex the signals from the detectors to 18 separate video channels. Optical filter assemblies defining the spectral bands are mounted over the linear detector arrays. Each filter assembly consists of several filter strips bonded together side-by-side. The MTI focal plane assembly has been integrated with the rest of the payload and has undergone detailed testing and calibration. This paper includes representative test data for the various spectral bands and the overall performance of the focal plane assembly.

  7. Large Format Multicolor QWIP Focal Plane Arrays

    NASA Technical Reports Server (NTRS)

    Soibel, A.; Gunapala, S. D.; Bandara, S. V.; Liu, J. K.; Mumolo, J. M.; Ting, D. Z.; Hill, C. J.; Nguyen, J.

    2009-01-01

    Mid-wave infrared (MWIR) and long-wave infrared (LWIR) multicolor focal plane array (FPA) cameras are essential for many DoD and NASA applications including Earth and planetary remote sensing. In this paper we summarize our recent development of large format multicolor QWIP FPA that cover MWIR and LWIR bands.

  8. Towards Dualband Megapixel QWIP Focal Plane Arrays

    NASA Technical Reports Server (NTRS)

    Gunapala, S. D.; Bandara, S. V.; Liu, J. K.; Mumolo, J. M.; Hill, C. J.; Rafol, S. B.; Salazar, D.; Woolaway, J.; LeVan, P. D.; Tidrow, M. Z.

    2006-01-01

    Mid-wavelength infrared (MWIR) and long-wavelength infrared (LWIR) 1024 x 1024 pixel quantum well infrared photodetector (QWIP) focal planes have been demonstrated with excellent imaging performance. The MWIR QWIP detector array has demonstrated a noise equivalent differential temperature (NEDT) of 17 mK at a 95 K operating temperature with f/2.5 optics at 300 K background and the LWIR detector array has demonstrated a NEDT of 13 mK at a 70 K operating temperature with the same optical and background conditions as the MWIR detector array after the subtraction of system noise. Both MWIR and LWIR focal planes have shown background limited performance (BLIP) at 90 K and 70 K operating temperatures respectively, with similar optical and background conditions. In addition, we have demonstrated MWIR and LWIR pixel co-registered simultaneously readable dualband QWIP focal plane arrays. In this paper, we will discuss the performance in terms of quantum efficiency, NEDT, uniformity, operability, and modulation transfer functions of the 1024 x 1024 pixel arrays and the progress of dualband QWIP focal plane array development work.

  9. Complex source description of focal regions.

    PubMed

    Monzon, Cesar; Forester, Donald W; Moore, Peter

    2006-04-01

    Closed-form solutions of the two-dimensional homogeneous wave equation are presented that provide focal-region descriptions corresponding to a converging bundle of rays. The solutions do have evanescent wave content and can be described as a source-sink pair or particle-antiparticle pair, collocated in complex space, with the complex location being critical in the determination of beam shape and focal region size. The wave solutions are not plagued by singularities, have a finite energy, and have a limitation on how small the focal size can get, with a penalty for limiting small spot sizes in the form of impractically high associated reactive energy. The electric-field-defined spot-size limiting value is 0.35lambda x 0.35lambda, which is about 38% of the Poynting-vector-defined minimum spot size (0.8lambda x 0.4lambda) and corresponds to a condition related to the maximum possible beam angle. A multiple set of solutions is introduced, and the elementary solutions are used to produce new solutions via superposition, resulting in fields with chiral character or with increased depth of focus. We do not claim generality, as the size of focal regions exhibited by the closed-form solutions has a lower bound and hence is not able to account for Pendry's "ideal lens" scenario.

  10. Focal dermal hypoplasia: a rare case report.

    PubMed

    Srinivas, Sahana M; Hiremagalore, Ravi

    2015-01-01

    Focal dermal hypoplasia (Goltz syndrome) is a rare genetic multisystem disorder primarily involving the skin, skeletal system, eyes, and face. We report the case of an eight-month-old female child who presented with multiple hypopigmented atrophic macules along the lines of blaschko, skeletal anomalies, umbilical hernia, developmental delay, hypoplastic nails, syndactyly, and lobster claw deformity characteristic of Goltz syndrome. PMID:25657436

  11. Universities: A Focal Point for Economic Development.

    ERIC Educational Resources Information Center

    Maidique, Modesto A.

    1988-01-01

    Higher education can act as a focal point of economic development. The most widely recognized type of economic development entails an association between a university, its research facilities, and private industry. An example of this partnership is the one between Stanford University and the industries in the "Silicon Valley." (MLW)

  12. Estimation of focal and extra-focal radiation profiles based on Gaussian modeling in medical linear accelerators.

    PubMed

    Anai, Shigeo; Arimura, Hidetaka; Nakamura, Katsumasa; Araki, Fujio; Matsuki, Takaomi; Yoshikawa, Hideki; Yoshidome, Satoshi; Shioyama, Yoshiyuki; Honda, Hiroshi; Ikeda, Nobuo

    2011-07-01

    The X-ray source or focal radiation is one of the factors that can degrade the conformal field edge in stereotactic body radiotherapy. For that reason, it is very important to estimate the total focal radiation profiles of linear accelerators, which consists of X-ray focal-spot radiation and extra-focal radiation profiles. Our purpose in this study was to propose an experimental method for estimating the focal-spot and extra-focal radiation profiles of linear accelerators based on triple Gaussian functions. We measured the total X-ray focal radiation profiles of the accelerators by moving a slit in conjunction with a photon field p-type silicon diode. The slit width was changed so that the extra-focal radiation could be optimally included in the total focal radiation. The total focal radiation profiles of an accelerator at 4-MV and 10-MV energies were approximated with a combination of triple Gaussian functions, which correspond to the focal-spot radiation, extra-focal radiation, and radiation transmitted through the slit assembly. As a result, the ratios of the Gaussian peak value of the extra-focal radiation to that of the focal spot for 4 and 10 MV were 0.077 and 0.159, respectively. The peak widths of the focal-spot and extra-focal radiation profiles were 0.57 and 25.0 mm for 4 MV, respectively, and 0.60 and 22.0 mm for 10 MV, respectively. We concluded that the proposed focal radiation profile model based on the triple Gaussian functions may be feasible for estimating the X-ray focal-spot and extra-focal radiation profiles.

  13. Focal colors are universal after all

    PubMed Central

    Regier, Terry; Kay, Paul; Cook, Richard S.

    2005-01-01

    It is widely held that named color categories in the world's languages are organized around universal focal colors and that these focal colors tend to be chosen as the best examples of color terms across languages. However, this notion has been supported primarily by data from languages of industrialized societies. In contrast, recent research on a language from a nonindustrialized society has called this idea into question. We examine color-naming data from languages of 110 nonindustrialized societies and show that (i) best-example choices for color terms in these languages cluster near the prototypes for English white, black, red, green, yellow, and blue, and (ii) best-example choices cluster more tightly across languages than do the centers of category extensions, suggesting that universal best examples (foci) may be the source of universal tendencies in color naming. PMID:15923257

  14. Focal region fields of distorted reflectors

    NASA Technical Reports Server (NTRS)

    Buris, N. E.; Kauffman, J. F.

    1988-01-01

    The problem of the focal region fields scattered by an arbitrary surface reflector under uniform plane wave illumination is solved. The physical optics (PO) approximation is used to calculate the current induced on the reflector. The surface of the reflector is described by a number of triangular domain-wise 5th degree bivariate polynomials. A 2-dimensional Gaussian quadrature is employed to numerically evaluate the integral expressions of the scattered fields. No Freshnel or Fraunhofer zone approximations are made. The relation of the focal fields problem to surface compensation techniques and other applications are mentioned. Several examples of distorted parabolic reflectors are presented. The computer code developed is included, together with instructions on its usage.

  15. Extensive Focal Epithelial Hyperplasia: A Case Report

    PubMed Central

    Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

    2015-01-01

    Focal epithelial hyperplasia (FEH) or Heck’s disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and histopathological features. Dental practitioner should be aware of these types of lesions and histopathological examination together and a careful clinical observation should be carried out for a definitive diagnosis. PMID:26351501

  16. The Focal Plane Package for Solar B

    NASA Astrophysics Data System (ADS)

    Title, A.; Tsuneta, S.

    The Focal Plane Package (FPP) of the JAXA Solar B Solar Optical Telescope (SOT) combines an advanced version of Stokes Polarimeter, a tunable birefringent filter, and a set of narrow spectral filters. The Stokes Polarimeter and the filter systems can operate simultaneously allowing the construction of precise vector magnetograms and images in a range of spectral lines. Both the Stokes Polarimeter and the filter systems have controllable fields of view and cadence. A local correlation tracker in the FFP operates a high speed tip-tilt mirror to stabilize the image in all focal planes. The time sequences of precise vector magnetic maps uncompromised by seeing will enable new understanding of how flux emerges through and disappears from the solar surface. The tunable filter can measure the flows in the atmosphere from the lower photosphere through the Chromosphere enabling new insights in the magneto-hydrodynamics of magnetic evolution.

  17. Improvements of the Focal Plane of SASSYER

    NASA Astrophysics Data System (ADS)

    Crump, Danielle; Heinz, Andreas; Winkler, Ryan; Frank, Daniel; Qian, Jing; Fetea, Mirela

    2007-10-01

    The Small Angle Separator System at Yale for Evaporation Residues (SASSYER) at Yale University is a gas-filled recoil separator, specializing in the investigation of the production and the structure of nuclei heavier than ^208Pb. New instrumentation for the focal plane of SASSYER under development at WNSL at Yale will replace the previous equipment with a compact chamber for double-sided silicon detectors (DSSD). Here we are reporting on improvements of the focal plane of SASSYER, including DSSD electronics, a detector cooling system, and ion optics tests. MUX-16 boards from MESYTEC, 16 channel multiplexed amplifiers, were tested and quantified. An alcohol cooling system, related to the DSSD, was characterized. The ion optics tests extracted effective magnetic rigidities of the separator. Results of the tests will be presented. This work was supported by the NSF grant PHY 0555665, Jeffress Fund J-809, and USDOE grant DE-FG02-91ER-40609.

  18. Isolation of focal contact membrane using saponin.

    PubMed

    Neyfakh, A A; Svitkina, T M

    1983-12-01

    The fragments of lower cell surface remained attached to the substrate after incubation of mouse or chick fibroblasts in 0.2% saponin solution and subsequent removal of cells under the action of shearing force. These fragments corresponded exactly to the cellular focal contacts seen by interference reflection microscopy. Ultrastructurally they were membrane fragments with typical three-layered structure. No cytoskeletal components were found in saponin-isolated focal contact membranes either by immunofluorescence or electron microscopy. Only one major cell-derived protein with an apparent molecular weight (MW) of 51 kD (chick embryo fibroblasts) or 47 kD (mouse embryo fibroblasts) remained on the substrate after saponin treatment and removal of cells.

  19. [Focal epithelial hyperplasia in lepromatous leprosy].

    PubMed

    Jacyk, W; Lechner, W

    1983-10-15

    Focal epithelial hyperplasia Heck (FEH) is most likely caused by human papilloma virus. It mainly occurs in children and young people showing no associated diseases. For the first time, we describe a case of FEH in a patient with lepromatous leprosy who due to persistent erythema nodosum leprosum has been treated with a lang-term glucocorticoid therapy. The question of the competence of lepromatous patients in resisting certain viral infections arises.

  20. Focal epithelial hyperplasia in a Turkish family.

    PubMed

    Gökahmetoğlu, Selma; Ferahbaş, Ayten; Canöz, Özlem

    2014-12-01

    Focal epithelial hyperplasia (FEH) is a benign proliferative condition that is more frequently found in children of certain ethnic groups. Human papillomavirus (HPV) 13 and 32 genotypes has been consistently detected in these lesions. In this study a daughter, mother and father had FEH, and HPV 13 was shown by sequence analysis in the lesions of these patients. Cryotherapy was applied to the lesions and the lesions improved, but did not recover properly. In conclusion, HPV genotyping should be performed in FEH cases.

  1. Extensive focal epithelial hyperplasia: case report.

    PubMed

    Durso, Braz Campos; Pinto, José Marcelo Vargas; Jorge, Jacks; de Almeida, Oslei Paes

    2005-11-01

    Focal epithelial hyperplasia (FEH) is a rare benign lesion caused by human papillomavirus subtype 13 or 32. The condition occurs in numerous populations and ethnic groups. A higher incidence in close communities and among family members indicates infectious pathogenesis. A 21-year-old woman with FEH is described, in whom the lesions had persisted for 10 years. A literature review is also presented, with emphasis on manifestations in the oral mucosa and histopathological features.

  2. The Kepler photometer focal plane array

    NASA Astrophysics Data System (ADS)

    Argabright, V. S.; VanCleve, J. E.; Bachtell, E. E.; Hegge, M. J.; McArthur, S. P.; Dumont, F. C.; Rudeen, A. C.; Pullen, J. L.; Teusch, D. A.; Tennant, D. S.; Atcheson, P. D.

    2008-07-01

    The Kepler instrument is designed to detect Earth size planets in the "habitable zone" orbiting 9focal plane array resulting in ~13° diameter FOV, so that greater than 100,000 suitable stars in the FOV are continuously monitored over a three and a half year mission. Detection of planetary transits is made possible through 20 ppm differential photometry using pixel data from a focal plane array specifically developed for Kepler. The Kepler focal plane array is suspended above the primary mirror and consists of twenty one 2K x 2K Science CCD modules mounted on a curved Invar substrate with four output taps per module. Four fine guidance sensor (FGS) CCD modules are mounted to the corners of the Invar substrate to gather additional pointing information for the Attitude Control System in order to attain the required <2.5 milli-pixel pointing accuracy. A space staring radiator and a closed loop thermal control system maintains the CCD module temperatures at -85°C with <10mK thermal stability. Low noise electronics reads out both the Science and FGS CCD modules at a 3 MHz pixel rate. In order to achieve a 4-sigma detection of an Earth-sized planet orbiting a 12th magnitude Sun-like star, the overall noise budget allocates 150 e- to the read noise of each Science CCD module output. This paper discusses key elements of the Kepler focal plane array design, development, characterization and performance results.

  3. Focal plane scanner with reciprocating spatial window

    NASA Technical Reports Server (NTRS)

    Mao, Chengye (Inventor)

    2000-01-01

    A focal plane scanner having a front objective lens, a spatial window for selectively passing a portion of the image therethrough, and a CCD array for receiving the passed portion of the image. All embodiments have a common feature whereby the spatial window and CCD array are mounted for simultaneous relative reciprocating movement with respect to the front objective lens, and the spatial window is mounted within the focal plane of the front objective. In a first embodiment, the spatial window is a slit and the CCD array is one-dimensional, and successive rows of the image in the focal plane of the front objective lens are passed to the CCD array by an image relay lens interposed between the slit and the CCD array. In a second embodiment, the spatial window is a slit, the CCD array is two-dimensional, and a prism-grating-prism optical spectrometer is interposed between the slit and the CCD array so as to cause the scanned row to be split into a plurality of spectral separations onto the CCD array. In a third embodiment, the CCD array is two-dimensional and the spatial window is a rectangular linear variable filter (LVF) window, so as to cause the scanned rows impinging on the LVF to be bandpass filtered into spectral components onto the CCD array through an image relay lens interposed between the LVF and the CCD array.

  4. Mechanism of Focal Adhesion Kinase Mechanosensing

    PubMed Central

    Sturm, Sebastian; Bullerjahn, Jakob Tómas; Bronowska, Agnieszka; Gräter, Frauke

    2015-01-01

    Mechanosensing at focal adhesions regulates vital cellular processes. Here, we present results from molecular dynamics (MD) and mechano-biochemical network simulations that suggest a direct role of Focal Adhesion Kinase (FAK) as a mechano-sensor. Tensile forces, propagating from the membrane through the PIP2 binding site of the FERM domain and from the cytoskeleton-anchored FAT domain, activate FAK by unlocking its central phosphorylation site (Tyr576/577) from the autoinhibitory FERM domain. Varying loading rates, pulling directions, and membrane PIP2 concentrations corroborate the specific opening of the FERM-kinase domain interface, due to its remarkably lower mechanical stability compared to the individual alpha-helical domains and the PIP2-FERM link. Analyzing downstream signaling networks provides further evidence for an intrinsic mechano-signaling role of FAK in broadcasting force signals through Ras to the nucleus. This distinguishes FAK from hitherto identified focal adhesion mechano-responsive molecules, allowing a new interpretation of cell stretching experiments. PMID:26544178

  5. Infrared fiber optic focal plane dispersers

    NASA Technical Reports Server (NTRS)

    Goebel, J. H.

    1981-01-01

    Far infrared transmissive fiber optics as a component in the design of integrated far infrared focal plane array utilization is discussed. A tightly packed bundle of fibers is placed at the focal plane, where an array of infrared detectors would normally reside, and then fanned out in two or three dimensions to individual detectors. Subsequently, the detectors are multiplexed by cryogenic electronics for relay of the data. A second possible application is frequency up-conversion (v sub 1 + v sub 2 = v sub 3), which takes advantage of the nonlinear optical index of refraction of certain infrared transmissive materials in fiber form. Again, a fiber bundle is utilized as above, but now a laser of frequency v sub 1 is mixed with the incoming radiation of frequency v sub 1 within the nonlinear fiber material. The sum, v sub 2 is then detected by near infrared or visible detectors which are more sensitive than those available at v sub 2. Due to the geometrical size limitations of detectors such as photomultipliers, the focal plane dispersal technique is advantageous for imaging up-conversion.

  6. Prostate cancer recurrence after Focal Therapy: Treatment options.

    PubMed

    Hamid, S; Guillaumier, S; Shah, T; Arya, M; Ahmed, H U

    2016-07-01

    Focal therapy is a novel treatment option in localised prostate cancer with or without a visible lesion on MRI. Treatment for low to intermediate risk prostate cancer with focal therapy has demonstrated good short to medium term outcomes with fewer undesirable genitourinary side effects. This has made focal therapy more appealing to men who find the implications of radical treatment unacceptable or are unable to tolerate active surveillance. In this paper we review the literature for treatment options in prostate cancer recurrence post focal therapy. We also cover the different definitions of failure agreed upon in previous consensus meetings, as well as their implications on future management focal therapy patients. PMID:27416641

  7. A kinetic model for RNA-interference of focal adhesions

    PubMed Central

    2013-01-01

    Background Focal adhesions are integrin-based cell-matrix contacts that transduce and integrate mechanical and biochemical cues from the environment. They develop from smaller and more numerous focal complexes under the influence of mechanical force and are key elements for many physiological and disease-related processes, including wound healing and metastasis. More than 150 different proteins localize to focal adhesions and have been systematically classified in the adhesome project (http://www.adhesome.org). First RNAi-screens have been performed for focal adhesions and the effect of knockdown of many of these components on the number, size, shape and location of focal adhesions has been reported. Results We have developed a kinetic model for RNA interference of focal adhesions which represents some of its main elements: a spatially layered structure, signaling through the small GTPases Rac and Rho, and maturation from focal complexes to focal adhesions under force. The response to force is described by two complementary scenarios corresponding to slip and catch bond behavior, respectively. Using estimated and literature values for the model parameters, three time scales of the dynamics of RNAi-influenced focal adhesions are identified: a sub-minute time scale for the assembly of focal complexes, a sub-hour time scale for the maturation to focal adhesions, and a time scale of days that controls the siRNA-mediated knockdown. Our model shows bistability between states dominated by focal complexes and focal adhesions, respectively. Catch bonding strongly extends the range of stability of the state dominated by focal adhesions. A sensitivity analysis predicts that knockdown of focal adhesion components is more efficient for focal adhesions with slip bonds or if the system is in a state dominated by focal complexes. Knockdown of Rho leads to an increase of focal complexes. Conclusions The suggested model provides a kinetic description of the effect of RNA

  8. The Pathogenesis of Focal Segmental Glomerulosclerosis

    PubMed Central

    Jefferson, J. Ashley; Shankland, Stuart J.

    2014-01-01

    Focal segmental glomerulosclerosis (FSGS) is a histological pattern of injury on renal biopsy that can arise from a diverse range of causes and mechanisms. Although primary and secondary forms are described based on the underlying cause, there are many common factors that underlie the development of this segmental injury. In this review we will describe the currently accepted model for the pathogenesis of classic FSGS and review the data supporting this model. Although the podocyte is considered the major target of injury in FSGS, we will also highlight the contributions of other resident glomerular cells in the development of FSGS. PMID:25168829

  9. Characterization of DECam focal plane detectors

    SciTech Connect

    Diehl, H.Thomas; Angstadt, Robert; Campa, Julia; Cease, Herman; Derylo, Greg; Emes, John H.; Estrada, Juan; Kibik, Donna; Flaugher, Brenna L.; Holland, Steve E.; Jonas, Michelle; /Fermilab /Madrid, CIEMAT /LBL, Berkeley /Argonne /Pennsylvania U.

    2008-06-01

    DECam is a 520 Mpix, 3 square-deg FOV imager being built for the Blanco 4m Telescope at CTIO. This facility instrument will be used for the 'Dark Energy Survey' of the southern galactic cap. DECam has chosen 250 ?m thick CCDs, developed at LBNL, with good QE in the near IR for the focal plane. In this work we present the characterization of these detectors done by the DES team, and compare it to the DECam technical requirements. The results demonstrate that the detectors satisfy the needs for instrument.

  10. Ictal body turning in focal epilepsy.

    PubMed

    Mercan, Metin; Yıldırım, İrem; Akdemir, Özgür; Bilir, Erhan

    2015-03-01

    Despite the explanations of many lateralization findings, body turning in focal epilepsy has been rarely investigated. One of the aims of this study was to evaluate the role of ictal body turning in the lateralization of focal epilepsies. The records of 263 patients with focal epilepsy (temporal lobe epilepsy (TLE), n=178; extratemporal lobe epilepsy (ETLE), n=85) who underwent prolonged video-EEG monitoring during presurgical epilepsy evaluation were reviewed. Preoperative findings (TLE, n=16; ETLE, n=6) and postoperative outcomes (TLE, n=7) of patients with focal epilepsy with ictal body turning were assessed. For the evaluation of ictal body turning, two definitions were proposed. Nonversive body turning (NVBT) was used to denote at least a 90° nonforced (without tonic or clonic component) rotation of the upper (shoulder) and lower (hip) parts of the body around the body axis for a minimum of 3s. Versive body turning (VBT) was used to denote at least a 90° forced (with tonic or clonic component) rotation of the upper (shoulder) and lower (hip) parts of the body around the body axis for a minimum of 3s. Nonversive body turning was observed in 6% (n=11) of patients with TLE and 2% (n=2) of patients with ETLE. For VBT, these ratios were 5% (n=8) and 7% (n=6) for patients with TLE and ETLE, respectively. Nonversive body turning was frequently oriented to the same side as the epileptogenic zone (EZ) in TLE and ETLE seizures (76% and 80%, respectively). If the amount of NVBT was greater than 180°, then it was 80% to the same side in TLE seizures. Versive body turning was observed in 86% of the TLE seizures, and 55% of the ETLE seizures were found to be contralateral to the EZ. When present with head turning, NVBT ipsilateral to the EZ and VBT contralateral to the EZ were more valuable for lateralization. In TLE seizures, a significant correlation was found between the head turning and body turning onsets and durations. Our study demonstrated that ictal body turning

  11. Focal-plane architectures and signal processing

    NASA Astrophysics Data System (ADS)

    Jayadev, T. S.

    1991-11-01

    This paper discusses the relationship of focal plane architectures and signal processing functions currently used in infrared sensors. It then discusses the development of an algorithm derived from the models developed by biologists to explain the functions of insect eyes and the hardware realization of this algorithm using commercially available silicon chips. The conclusion of this study is that there are important lessons to be learned from the architecture of biological sensors, which may lead to new techniques in electro-optic sensor design.

  12. Living after sudden death: A case report of Naxos disease.

    PubMed

    Noain, Jose Alberto Garcia; Golet, Amparo Cantin; Calzada, Jorge Navarro; Mellado, Ascension Muñoz; Duarte, Julian Mozota

    2012-10-01

    Naxos disease is a recessive inherited condition with arrhythmogenic right ventricular dysplasia (ARVD) and a peculiar cutaneous phenotype (woolly hair and a palmoplantar keratoderma). Woolly hair appears from birth, palmoplantar keratoderma develops during childhood and cardiomyopathy is clinically manifested by adolescence. Patients present with syncope, sustained ventricular tachycardia or sudden death. We report a case of a 14 year old boy from Spain, who was admitted into our emergency room after being resuscitated from cardiac arrest, secondary to malignant ventricular tachycardia that developed while he was playing basketball.

  13. Ultrasound elastographic techniques in focal liver lesions

    PubMed Central

    Conti, Clara Benedetta; Cavalcoli, Federica; Fraquelli, Mirella; Conte, Dario; Massironi, Sara

    2016-01-01

    Elastographic techniques are new ultrasound-based imaging techniques developed to estimate tissue deformability/stiffness. Several ultrasound elastographic approaches have been developed, such as static elastography, transient elastography and acoustic radiation force imaging methods, which include point shear wave and shear wave imaging elastography. The application of these methods in clinical practice aims at estimating the mechanical tissues properties. One of the main settings for the application of these tools has been liver stiffness assessment in chronic liver disease, which has been studied mainly using transient elastography. Another field of application for these techniques is the assessment of focal lesions, detected by ultrasound in organs such as pancreas, prostate, breast, thyroid, lymph nodes. Considering the frequency and importance of the detection of focal liver lesions through routine ultrasound, some studies have also aimed to assess the role that elestography can play in studying the stiffness of different types of liver lesions, in order to predict their nature and thus offer valuable non-invasive methods for the diagnosis of liver masses. PMID:26973405

  14. Characterization of the KATRIN Focal Plane Detector

    NASA Astrophysics Data System (ADS)

    Bodine, Laura; Leber, Michelle; Myers, Allan; Tolich, Kazumi; Vandevender, Brent; Wall, Brandon

    2008-10-01

    The Karlsruhe Tritium Neutrino (KATRIN) Experiment is a next generation tritium beta decay experiment designed to measure directly the electron neutrino mass with a sensitivity of 0.2 eV. In the experiment, electrons from tritium decay of a gaseous source are magnetically guided through analyzing solenoidal retarding electrostatic spectrometers and detected via a focal plane detector. The focal plane detector is a 90mm diameter, 500 micron thick monolithic silicon pin-diode array with 148 pixels. The diode contacts have a titanium nitride overlayer and are connected to preamplifiers via an array of spring-loaded pogo pins. This novel connection scheme minimizes backgrounds from radioactive materials near the detector, facilitates characterization and replacement of the detector wafer, but requires a unique mounting design. The force of the pins strains the silicon, possibly altering the detector properties and performance. Results on the mechanical, thermal and electrical performance of a prototype detector under stress from pogo pin readouts will be presented.

  15. Idiopathic focal epilepsies: the "lost tribe".

    PubMed

    Pal, Deb K; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint-Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd A; Pisano, Tiziana; Rudolf, Gabrielle; Seegmuller, Caroline; Shibata, Takashi; Smith, Anna; Striano, Pasquale; Strug, Lisa J; Szepetowski, Pierre; Valeta, Thalia; Yoshinaga, Harumi; Koutroumanidis, Michalis

    2016-09-01

    The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The

  16. Focal embolic cerebral ischemia in the rat

    PubMed Central

    Zhang, Li; Zhang, Rui Lan; Jiang, Quan; Ding, Guangliang; Chopp, Michael; Zhang, Zheng Gang

    2015-01-01

    Animal models of focal cerebral ischemia are well accepted for investigating the pathogenesis and potential treatment strategies for human stroke. Occlusion of the middle cerebral artery (MCA) with an endovascular filament is a widely used model to induce focal cerebral ischemia. However, this model is not amenable to thrombolytic therapies. As thrombolysis with recombinant tissue plasminogen activator (rtPA) is a standard of care within 4.5 hours of human stroke onset, suitable animal models that mimic cellular and molecular mechanisms of thrombosis and thrombolysis of stroke are required. By occluding the MCA with a fibrin-rich allogeneic clot, we have developed an embolic model of MCA occlusion in the rat, which recapitulates the key components of thrombotic development and of thrombolytic therapy of rtPA observed from human ischemic stroke. The surgical procedures of our model can be typically completed within approximately 30 min and are highly adaptable to other strains of rats as well as mice for both genders. Thus, this model provides a powerful tool for translational stroke research. PMID:25741989

  17. ORFEUS focal plane instrumentation: The Berkeley spectrometer

    NASA Technical Reports Server (NTRS)

    Hurwitz, Mark; Bowyer, Stuart

    1988-01-01

    A spectrograph for the ORFEUS mission that incorporates four varied line-space, spherically figured diffraction gratings was designed. The ORFEUS, a 1-m normal incidence telescope is equipped with 2 focal plane spectrographs. The Berkeley spectrograph was developed with an optimizing raytracing computer code. Each grating accepts the light from 20 percent of the aperture of the telescope primary mirror and has a unique set of characteristics to cover a sub-bandpass within the 390 to 1200 A spectral range. Two photon-counting detectors incorporating a time delay readout system are used to record the spectra from all four gratings simultaneously. The nominal design achieves a spectral resolution (FWHM) in excess of 5500 at all wavelengths within the bandpass. The resolution is limited primarily by the detector spatial resolution. The 1 sigma astigmatism of this design varies between 13 and 150 micrometer on the same focal surface. An independent, direct imaging system tracks the drift of the target within the spectrometer aperture and allows measurement of the misalignment between the telescope optical axis and that of the external star tracker. The resolution and astigmatism achievable with this design are superior to those of a standard Rowland spectrograph designed with the same constraints.

  18. Idiopathic focal epilepsies: the "lost tribe".

    PubMed

    Pal, Deb K; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint-Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd A; Pisano, Tiziana; Rudolf, Gabrielle; Seegmuller, Caroline; Shibata, Takashi; Smith, Anna; Striano, Pasquale; Strug, Lisa J; Szepetowski, Pierre; Valeta, Thalia; Yoshinaga, Harumi; Koutroumanidis, Michalis

    2016-09-01

    The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children. They are fascinating disorders that hold many "treats" for both clinicians and researchers. For example, the IFEs pose many of the most interesting questions central to epileptology: how are functional brain networks involved in the manifestation of epilepsy? What are the shared mechanisms of comorbidity between epilepsy and neurodevelopmental disorders? How do focal EEG discharges impact cognitive functioning? What explains the age-related expression of these syndromes? Why are EEG discharges and seizures so tightly locked to slow-wave sleep? In the last few decades, the clinical symptomatology and the respective courses of many IFEs have been described, although they are still not widely appreciated beyond the specialist community. Most neurologists would recognise the core syndromes of IFE to comprise: benign epilepsy of childhood with centro-temporal spikes or Rolandic epilepsy (BECTS/RE); Panayiotopoulos syndrome; and the idiopathic occipital epilepsies (Gastaut and photosensitive types). The Landau-Kleffner syndrome and the related (idiopathic) epilepsy with continuous spikes and waves in sleep (CSWS or ESES) are also often included, both as a consequence of the shared morphology of the interictal discharges and their potential evolution from core syndromes, for example, CSWS from BECTS. Atypical benign focal epilepsy of childhood also has shared electro-clinical features warranting inclusion. In addition, a number of less well-defined syndromes of IFE have been proposed, including benign childhood seizures with affective symptoms, benign childhood epilepsy with parietal spikes, benign childhood seizures with frontal or midline spikes, and benign focal seizures of adolescence. The

  19. Multiple molecular penumbras after focal cerebral ischemia.

    PubMed

    Sharp, F R; Lu, A; Tang, Y; Millhorn, D E

    2000-07-01

    Though the ischemic penumbra has been classically described on the basis of blood flow and physiologic parameters, a variety of ischemic penumbras can be described in molecular terms. Apoptosis-related genes induced after focal ischemia may contribute to cell death in the core and the selective cell death adjacent to an infarct. The HSP70 heat shock protein is induced in glia at the edges of an infarct and in neurons often at some distance from the infarct. HSP70 proteins are induced in cells in response to denatured proteins that occur as a result of temporary energy failure. Hypoxia-inducible factor (HIF) is also induced after focal ischemia in regions that can extend beyond the HSP70 induction. The region of HIF induction is proposed to represent the areas of decreased cerebral blood flow and decreased oxygen delivery. Immediate early genes are induced in cortex, hippocampus, thalamus, and other brain regions. These distant changes in gene expression occur because of ischemia-induced spreading depression or depolarization and could contribute to plastic changes in brain after stroke. PMID:10908035

  20. Small pixel oversampled IR focal plane arrays

    NASA Astrophysics Data System (ADS)

    Caulfield, John; Curzan, Jon; Lewis, Jay; Dhar, Nibir

    2015-06-01

    We report on a new high definition high charge capacity 2.1 Mpixel MWIR Infrared Focal Plane Array. This high definition (HD) FPA utilizes a small 5 um pitch pixel size which is below the Nyquist limit imposed by the optical systems Point Spread Function (PSF). These smaller sub diffraction limited pixels allow spatial oversampling of the image. We show that oversampling IRFPAs enables improved fidelity in imaging including resolution improvements, advanced pixel correlation processing to reduce false alarm rates, improved detection ranges, and an improved ability to track closely spaced objects. Small pixel HD arrays are viewed as the key component enabling lower size, power and weight of the IR Sensor System. Small pixels enables a reduction in the size of the systems components from the smaller detector and ROIC array, the reduced optics focal length and overall lens size, resulting in an overall compactness in the sensor package, cooling and associated electronics. The highly sensitive MWIR small pixel HD FPA has the capability to detect dimmer signals at longer ranges than previously demonstrated.

  1. Can biologic treatment induce cutaneous focal mucinosis?

    PubMed Central

    Włodarczyk, Marcin; Sobolewska, Aleksandra; Sieniawska, Joanna; Rogowski-Tylman, Michał; Sysa-Jedrzejowska, Anna; Olejniczak-Staruch, Irmina; Narbutt, Joanna

    2014-01-01

    Skin mucinosis is a rare skin disease which clinically manifests as firm papules and waxy nodules. We report a case of a 66-year-old female psoriatic patient who developed skin mucinosis during biological therapy. Because of a previous lack of response to the local and conventional systemic treatment of psoriasis, the patient received biological therapy (infliximab from June 2008 to May 2009 – initial clinical improvement and loss of treatment effectiveness in the 36th week of the therapy; adalimumab from June 2009 to January 2010 – lack effectiveness; ustekinumab from March 2012 to the present). Throughout 2 months we observed a manifestation of the skin mucinosis as well-demarcated, yellow and brown, papulo-nodular lesions of 5–10 mm in diameter, localized on the back. Histopathological examination with alcian blue staining demonstrated mucin deposits in the dermis. On the basis of clinical and histopathological findings, the diagnosis of cutaneous focal mucinosis was established. We present the case because of the extremely rare occurrence of the disease. Scarce literature and data suggest that there is an association between focal mucinosis and thyroid dysfunction, as well as possible adverse effects of biological therapy with TNF-α antagonists. PMID:25610359

  2. Deep Moonquake Focal Mechanisms: Recovery and Implications

    NASA Technical Reports Server (NTRS)

    Knapmeyer, Martin; Weber, Renee C.

    2011-01-01

    A defining characteristic of deep moonquakes is their tendency to occur with tidal periodicity, prompting previous studies to infer that they are related to the buildup and release of tidal stress within the Moon. In studies of tidal forcing, a key constraint is the focal mechanism: the fault parameters describing the type of failure moonquakes represent. The quality of the lunar seismic data and the limited source/receiver geometries of the Apollo seismic network prohibit the determination of deep moonquake fault parameters using first-motion polarities, as is typically done in terrestrial seismology. Without being able to resolve tidal stress onto a known failure plane, we can examine only gross qualities of the tidal stress tensor with respect to moonquake occurrence, so we cannot fully address the role of tidal stress in moonquake generation. We will examine the extent to which shear (S) and compression (P) wave amplitude ratios can constrain moonquake fault geometry by determining whether, for a given cluster, there exists a focal mechanism that can produce a radiation pattern consistent with the amplitudes measured by the Apollo instruments. Amplitudes are read in the ray coordinate frame, directly from seismograms for which the P and S arrivals are clearly identifiable on all long-period channels of the four Apollo stations. We apply an empirical station correction to account for site effects and the differences between P- and S-wave attenuation. Instead of focusing on the best fitting solution only, we formulate the inverse problem using a falsification criterion: all source orientations that do not reproduce the observed SV/P ratios within an error margin derived from the uncertainty of amplitude readings are rejected. All others are accepted as possible solutions. The inversion is carried out using an exhaustive grid search on a regular grid with predefined step size, encompassing all possible combinations of strike, dip and slip. To assess the

  3. Focal field interactions from cylindrical vector beams

    NASA Astrophysics Data System (ADS)

    Biss, David Paul

    In optical imaging there is always a push to improve image quality or find methods to gain new imaging information. This is apparent in the optical lithography and semiconductor inspection industries, where optical metrology and imaging systems are using larger numerical aperture systems and finding new imaging methods, such as immersion imaging, to shrink focal fields. At high numerical apertures, scalar diffraction theories break down and polarization effects play a large role in focal field interactions. With this interest in polarization, new models for local polarization effects are needed. Along with new models, cylindrically-symmetric polarized beams known as cylindrical vector (CV) beams, can provide new methods of imaging in this high NA regime. In this thesis, we examine the modeling of radially and azimuthally polarized beams focused at high numerical aperture in the presence of a planar interface. These focal fields are also modeled with primary spherical, coma, and astigmatism wavefront aberrations in the entrance pupil of the focusing system. Particular attention is given to the longitudinal field component generated by the focused radial beam, and the correlation between the magnetic and electric fields of radial and azimuthal beams. A scanning edge test using linearly polarized beams is modeled using a rigorous coupled wave (RCW) method and is compared to experimental data. The ability of the scanning edge test to predict spot asymmetry is investigated though the comparison of the RCW scanning edge model with free space vector diffraction theories. This RCW model is extended to include CV beam illumination and mode filtering of the system's exit pupil fields. This extension provides a model to accurately predict the performance of a dark-field imaging modality using radially and azimuthally polarized beams. Predictions from this model are compared to experimental results with attention given to defocus effects and the ability to accurately measure

  4. Physical Activity Performance of Focal Middle School Students

    ERIC Educational Resources Information Center

    Erfle, Stephen E.; Gelbaugh, Corey M.

    2013-01-01

    Histograms of push-ups and curl-ups from a sample of more than 9,000 students show periodic spikes at five and 10 unit intervals. This article argues that these spikes are related to focal points, a game theoretic concept popularized by Nobel Laureate Thomas Schelling. Being focal on one test makes one more likely to be focal on the other. Focal…

  5. Evolution of the concept of focal therapy for prostate cancer.

    PubMed

    Tsivian, Matvey; Abern, Michael R; Polascik, Thomas J

    2013-01-01

    The landscape of prostate cancer has been rapidly evolving, and technological advances in imaging and biopsy tools offer novel approaches to focal therapy. In this dynamic environment, the role of focal therapy for prostate cancer is being shaped both by advances in technology and by reconsidering the epidemiological and outcomes data for available treatments. Here we focus on the evolution of the concept of focal therapy and its potential roles in the management of prostate cancer.

  6. Botulinum toxin physiology in focal hand and cranial dystonia.

    PubMed

    Karp, Barbara Illowsky

    2012-11-20

    The safety and efficacy of botulinum toxin for the treatment of focal hand and cranial dystonias are well-established. Studies of these adult-onset focal dystonias reveal both shared features, such as the dystonic phenotype of muscle hyperactivity and overflow muscle contraction and divergent features, such as task specificity in focal hand dystonia which is not a common feature of cranial dystonia. The physiologic effects of botulinum toxin in these 2 disorders also show both similarities and differences. This paper compares and contrasts the physiology of focal hand and cranial dystonias and of botulinum toxin in the management of these disorders.

  7. Focal Length Affects Depicted Shape and Perception of Facial Images.

    PubMed

    Třebický, Vít; Fialová, Jitka; Kleisner, Karel; Havlíček, Jan

    2016-01-01

    Static photographs are currently the most often employed stimuli in research on social perception. The method of photograph acquisition might affect the depicted subject's facial appearance and thus also the impression of such stimuli. An important factor influencing the resulting photograph is focal length, as different focal lengths produce various levels of image distortion. Here we tested whether different focal lengths (50, 85, 105 mm) affect depicted shape and perception of female and male faces. We collected three portrait photographs of 45 (22 females, 23 males) participants under standardized conditions and camera setting varying only in the focal length. Subsequently, the three photographs from each individual were shown on screen in a randomized order using a 3-alternative forced-choice paradigm. The images were judged for attractiveness, dominance, and femininity/masculinity by 369 raters (193 females, 176 males). Facial width-to-height ratio (fWHR) was measured from each photograph and overall facial shape was analysed employing geometric morphometric methods (GMM). Our results showed that photographs taken with 50 mm focal length were rated as significantly less feminine/masculine, attractive, and dominant compared to the images taken with longer focal lengths. Further, shorter focal lengths produced faces with smaller fWHR. Subsequent GMM revealed focal length significantly affected overall facial shape of the photographed subjects. Thus methodology of photograph acquisition, focal length in this case, can significantly affect results of studies using photographic stimuli perhaps due to different levels of perspective distortion that influence shapes and proportions of morphological traits.

  8. Deep Moonquake Focal Mechanisms: Recovery and Implications

    NASA Technical Reports Server (NTRS)

    Weber, Renee C.; Knapmeyer, Martin

    2012-01-01

    A defining characteristic of deep moonquakes is their tendency to occur with tidal periodicity, prompting previous studies to infer that they are related to the buildup and release of tidal stress within the Moon [refs]. In studies of tidal forcing, a key constraint is the focal mechanism: the fault parameters describing the type of failure moonquakes represent. The quality of the lunar seismic data and the limited source/receiver geometries of the Apollo seismic network prohibit the determination of deep moonquake fault parameters using first-motion polarities, as is typically done in terrestrial seismology [ref]. Without being able to resolve tidal stress onto a known failure plane, we can examine only gross qualities of the tidal stress tensor with respect to moonquake occurrence, so we cannot fully address the role of tidal stress in moonquake generation.

  9. Smart trigger logic for focal plane arrays

    DOEpatents

    Levy, James E; Campbell, David V; Holmes, Michael L; Lovejoy, Robert; Wojciechowski, Kenneth; Kay, Randolph R; Cavanaugh, William S; Gurrieri, Thomas M

    2014-03-25

    An electronic device includes a memory configured to receive data representing light intensity values from pixels in a focal plane array and a processor that analyzes the received data to determine which light values correspond to triggered pixels, where the triggered pixels are those pixels that meet a predefined set of criteria, and determines, for each triggered pixel, a set of neighbor pixels for which light intensity values are to be stored. The electronic device also includes a buffer that temporarily stores light intensity values for at least one previously processed row of pixels, so that when a triggered pixel is identified in a current row, light intensity values for the neighbor pixels in the previously processed row and for the triggered pixel are persistently stored, as well as a data transmitter that transmits the persistently stored light intensity values for the triggered and neighbor pixels to a data receiver.

  10. Idiopathic focal segmental glomerulosclerosis and HLA antigens.

    PubMed

    Gerbase-DeLima, M; Pereira-Santos, A; Sesso, R; Temin, J; Aragão, E S; Ajzen, H

    1998-03-01

    The objective of the present study was to investigate a possible association between HLA class II antigens and idiopathic focal segmental glomerulosclerosis (FSGS). HLA-A, -B, -DR and -DQ antigens were determined in 19 Brazilian patients (16 white subjects and three subjects of Japanese origin) with biopsy-proven FSGS. Comparison of the HLA antigen frequencies between white patients and white local controls showed a significant increase in HLA-DR4 frequency among FSGS patients (37.7 vs 17.2%, P < 0.05). In addition, the three patients of Japanese extraction, not included in the statistical analysis, also presented HLA-DR4. In conclusion, our data confirm the association of FSGS with HLA-DR4 previously reported by others, thus providing further evidence for a role of genes of the HLA complex in the susceptibility to this disease. PMID:9698788

  11. Focal epithelial hyperplasia of the oral mucosa.

    PubMed

    Morency, R; Laliberte, H; Delamarre, R

    1982-02-01

    Focal epithelial hyperplasia (FEH) of the oral mucosa has been reported mainly among American Indians, Eskimos, and south Africans. Our investigation is the first among Canadian Indians and combines an epidemiological study of FEH in a Cree Indian population living in Fort Georges. P.Q., and a description of its histologic and ultrastructural features. The sample consists of 150 individuals divided into six age groups. The prevalence rate for all groups is 18.6%. Clinically the lesions are nodular, sessile, and tend to merge with the adjoining mucosa upon stretching. Histologically the hyperplasia is limited to the epithelium. E.M. shows papova-virus-like particles. Otolaryngologists' awareness of this lesion could possibly lead to its recognition on a larger scale.

  12. Focal cerebral lesions and painting abilities.

    PubMed

    Mazzucchi, Anna; Sinforiani, Elena; Boller, François

    2013-01-01

    Focal lesions such as strokes significantly affect painting production in the vast majority of artists. In particular, painters, when they resume painting, show changes in their painting style. In exceptional cases, there may be an apparent improvement in style, but in most cases, the changes represent nothing short of deterioration. This, however, varies according to the hemisphere affected. Painters with left-hemisphere lesions tend to show an inability to deal adequately with perspective and also tend to use simplified colors with fewer nuances. One often witnesses an evolution toward simpler, often "naïve" techniques, and at times rigid geometric repetitive features. Painters with right-hemisphere lesions also become unable to represent tridimensionality. In addition, their figures are often drawn in very summary fashion, with lack of coordination between volumes and space and a chromatic impoverishment; their main problem, however, is visuospatial, leading to neglect of the left side of the canvas.

  13. Focal cemento-osseous dysplasia of mandible.

    PubMed

    Cankaya, Abdülkadir Burak; Erdem, Mehmet Ali; Olgac, Vakur; Firat, Deniz Refia

    2012-09-03

    Fibro-osseous lesions are disturbances in bone metabolism in which normal bone is replaced by a connective tissue matrix that then gradually develops into cemento-osseous tissue. Typically, the lesion is asymptomatic and is detected on routine radiographic examination. Radiologically, this lesion has three stages of maturation: pure radiolucent, radiopaque/mixed radiolucent, and radiopaque appearance. During these stages the lesion can be misdiagnosed. In this case report a 69-year- old patient with a a complaint of painless swelling of the left mandibular molar and premolar area is presented along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  14. Decreased subcortical cholinergic arousal in focal seizures

    PubMed Central

    Motelow, Joshua E.; Li, Wei; Zhan, Qiong; Mishra, Asht M.; Sachdev, Robert N. S.; Liu, Geoffrey; Gummadavelli, Abhijeet; Zayyad, Zaina; Lee, Hyun Seung; Chu, Victoria; Andrews, John P.; Englot, Dario J.; Herman, Peter; Sanganahalli, Basavaraju G.; Hyder, Fahmeed; Blumenfeld, Hal

    2015-01-01

    SUMMARY Impaired consciousness in temporal lobe seizures has a major negative impact on quality of life. The prevailing view holds that this disorder impairs consciousness by seizure spread to the bilateral temporal lobes. We propose instead that seizures invade subcortical regions and depress arousal, causing impairment through decreases rather than through increases in activity. Using functional magnetic resonance imaging in a rodent model, we found increased activity in regions known to depress cortical function including lateral septum and anterior hypothalamus. Importantly, we found suppression of intralaminar thalamic and brainstem arousal systems and suppression of the cortex. At a cellular level, we found reduced firing of identified cholinergic neurons in the brainstem pedunculopontine tegmental nucleus and basal forebrain. Finally, we used enzyme-based amperometry to demonstrate reduced cholinergic neurotransmission in both cortex and thalamus. Decreased subcortical arousal is a novel mechanism for loss of consciousness in focal temporal lobe seizures. PMID:25654258

  15. Sighting optics including an optical element having a first focal length and a second focal length and methods for sighting

    SciTech Connect

    Crandall, David Lynn

    2011-08-16

    Sighting optics include a front sight and a rear sight positioned in a spaced-apart relation. The rear sight includes an optical element having a first focal length and a second focal length. The first focal length is selected so that it is about equal to a distance separating the optical element and the front sight and the second focal length is selected so that it is about equal to a target distance. The optical element thus brings into simultaneous focus for a user images of the front sight and the target.

  16. A novel autocollimating method for measuring the focal distances

    NASA Astrophysics Data System (ADS)

    Ershov, Alexandr G.

    2015-06-01

    A novel autocollimating method for measuring the focal distances is presented. It may be used for measuring the focal distances of lenses and single optical elements in the visible, infrared and ultraviolet range. The relative uncertainty of this method is about 0.1%. The limited uncertainty is over 0.03%.

  17. Focus in Grade 8: Teaching with Curriculum Focal Points

    ERIC Educational Resources Information Center

    Schielack, Jane

    2010-01-01

    This book describes and illustrates learning paths for the mathematical concepts and skills of each grade 8 Focal Point as presented in Curriculum Focal Points for Prekindergarten through Grade 8 Mathematics. It includes representational supports for teaching and learning that can facilitate understanding, stimulate productive discussions about…

  18. Differences between diffuse and focal autoimmune pancreatitis

    PubMed Central

    Tabata, Taku; Kamisawa, Terumi; Takuma, Kensuke; Hara, Seiichi; Kuruma, Sawako; Inaba, Yoshihiko

    2012-01-01

    AIM: To investigate differences in clinical features between diffuse- and focal-type autoimmune pancreatitis (AIP). METHODS: Based on radiological findings by computed tomography and/or magnetic resonance imaging, we divided 67 AIP patients into diffuse type (D type) and focal type (F type). We further divided F type into head type (H type) and body and/or tail type (B/T type) according to the location of enlargement. Finally, we classified the 67 AIP patients into three groups: D type, H type and B/T type. We compared the three types of AIP in terms of clinical, laboratory, radiological, functional and histological findings and clinical course. RESULTS: There were 34 patients with D-type, 19 with H-type and 14 with B/T-type AIP. Although obstructive jaundice was frequently detected in D-type patients (88%) and H-type patients (68%), no B/T-type patients showed jaundice as an initial symptom (P < 0.001). There were no differences in frequency of abdominal pain, but acute pancreatitis was associated more frequently in B/T-type patients (36%) than in D-type patients (3%) (P = 0.017). Serum immunoglobulin G (IgG)4 levels were significantly higher in D-type patients (median 309 mg/dL) than in B/T-type patients (133.5 mg/dL) (P = 0.042). Serum amylase levels in B/T-type patients (median: 114 IU/L) were significantly greater than in H-type patients (72 IU/L) (P = 0.049). Lymphoplasmacytic sclerosing pancreatitis (LPSP) was histologically confirmed in 6 D-type, 7 H-type and 4 B/T-type patients; idiopathic duct-centric pancreatitis was observed in no patients. Marked fibrosis and abundant infiltration of CD20-positive B lymphocytes with few IgG4-positive plasma cells were detected in 2 B/T-type patients. Steroid therapy was effective in all 50 patients (31 D type, 13 H type and 6 B/T type). Although AIP relapsed during tapering or after stopping steroids in 3 D-type and 3 H-type patients, no patients relapsed in B/T type. During follow-up, radiological features of 6 B

  19. [Color Doppler sonography of focal abdominal lesions].

    PubMed

    Licanin, Zoran; Lincender, Lidija; Djurović, V; Salihefendić, Nizama; Smajlović, Fahrudin

    2004-01-01

    Color Doppler sonography (CDS--spectral, color and power), harmonic imaging techniques (THI, PHI), possibility of 3D analysis of picture, usage of contrast agents, have raised the values of ultrasound as a diagnostic method to a very high level. THI--non-linear gray scale modality, is based on the processing of higher reflected frequencies, that has improved a picture resolution, which is presented with less artifacts and limiting effects of obesity and gases. Ultrasound contrast agents improve analysis of micro and macro circulation of the examined area, and with the assessment of velocity of supply in ROI (wash in), distribution and time of signal weakening (wash out), are significantly increasing diagnostic value of ultrasound. Besides the anatomical and topographic presentation of examined region (color, power), Color Doppler sonography gives us haemodynamic-functional information on vascularisation of that region, as well as on pathologic vascularisation if present. Avascular aspect of a focal pathologic lesion corresponds to a cyst or haematoma, while coloration and positive spectral curve discover that anechogenic lesions actually represents aneurysms, pseudoaneurysms or AVF. In local inflammatory lesion, abscess in an acute phase, CDS shows first increased, and then decreased central perfusion, while in a chronic phase, a pericapsular vascularisation is present. Contribution of CDS in differentiation of hepatic tumors (hemangioma, HCC and metastasis) is very significant. Central color dots along the peripheral blood vessels and the blush phenomenon are characteristics of capillary hemangioma, peritumoral vascular ring "basket" of HCC, and "detour" sign of metastasis. The central artery, RI from 0.45 to 0.60 and radial spreading characterize FNH. Hepatic adenoma is characterized by an intratumoral vein, and rarely by a vascular hallo. Further on, blood velocity in tumor defined by Color Doppler, distinguishes malignant from benign lesion, where 40 cm/s is a

  20. Mutations of DEPDC5 cause autosomal dominant focal epilepsies

    PubMed Central

    Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; Achaz, Guillaume; Thomas, Pierre; Genton, Pierre; Mundwiller, Emeline; Wolff, Markus; Marescaux, Christian; Miles, Richard; Baulac, Michel; Hirsch, Edouard; Leguern, Eric; Baulac, Stéphanie

    2016-01-01

    The main familial focal epilepsies of childhood are autosomal dominant nocturnal frontal lobe epilepsy, familial temporal lobe epilepsy and familial focal epilepsy with variable foci. A frameshift mutation in the DEPDC5 (DEP domain containing protein 5) gene was identified in a family with focal epilepsy with variable foci, by linkage analysis and exome sequencing. Subsequent pyrosequencing of DEPDC5 in a cohort of 15 additional families with focal epilepsies revealed four nonsense and one missense mutations. Our findings provided evidence for frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies. The implication of a DEP domain (Dishevelled, Egl-10 and Pleckstrin domain)-containing protein that may be involved in membrane trafficking and/or G-protein signaling, opens new avenues for research. PMID:23542701

  1. Combined Scanning Transmission Electron Microscopy Tilt- and Focal Series

    SciTech Connect

    Dahmen, Tim; Baudoin, Jean-Pierre G; Lupini, Andrew R; Kubel, Christian; Slusallek, Phillip; De Jonge, Niels

    2014-01-01

    In this study, a combined tilt- and focal series is proposed as a new recording scheme for high-angle annular dark-field scanning transmission electron microscopy (STEM) tomography. Three-dimensional (3D) data were acquired by mechanically tilting the specimen, and recording a through-focal series at each tilt direction. The sample was a whole-mount macrophage cell with embedded gold nanoparticles. The tilt focal algebraic reconstruction technique (TF-ART) is introduced as a new algorithm to reconstruct tomograms from such combined tilt- and focal series. The feasibility of TF-ART was demonstrated by 3D reconstruction of the experimental 3D data. The results were compared with a conventional STEM tilt series of a similar sample. The combined tilt- and focal series led to smaller missing wedge artifacts, and a higher axial resolution than obtained for the STEM tilt series, thus improving on one of the main issues of tilt series-based electron tomography.

  2. An empirical assessment of the focal species hypothesis.

    PubMed

    Lindenmayer, D B; Lane, P W; Westgate, M J; Crane, M; Michael, D; Okada, S; Barton, P S

    2014-12-01

    Biodiversity surrogates and indicators are commonly used in conservation management. The focal species approach (FSA) is one method for identifying biodiversity surrogates, and it is underpinned by the hypothesis that management aimed at a particular focal species will confer protection on co-occurring species. This concept has been the subject of much debate, in part because the validity of the FSA has not been subject to detailed empirical assessment of the extent to which a given focal species actually co-occurs with other species in an assemblage. To address this knowledge gap, we used large-scale, long-term data sets of temperate woodland birds to select focal species associated with threatening processes such as habitat isolation and loss of key vegetation attributes. We quantified co-occurrence patterns among focal species, species in the wider bird assemblage, and species of conservation concern. Some, but not all, focal species were associated with high levels of species richness. One of our selected focal species was negatively associated with the occurrence of other species (i.e., it was an antisurrogate)-a previously undescribed property of nominated focal species. Furthermore, combinations of focal species were not associated with substantially elevated levels of bird species richness, relative to levels associated with individual species. Our results suggest that although there is some merit to the underpinning concept of the FSA, there is also a need to ensure that actions are sufficiently flexible because management tightly focused on a given focal species may not benefit some other species, including species of conservation concern, such of which might not occur in species-rich assemblages.

  3. An empirical assessment of the focal species hypothesis.

    PubMed

    Lindenmayer, D B; Lane, P W; Westgate, M J; Crane, M; Michael, D; Okada, S; Barton, P S

    2014-12-01

    Biodiversity surrogates and indicators are commonly used in conservation management. The focal species approach (FSA) is one method for identifying biodiversity surrogates, and it is underpinned by the hypothesis that management aimed at a particular focal species will confer protection on co-occurring species. This concept has been the subject of much debate, in part because the validity of the FSA has not been subject to detailed empirical assessment of the extent to which a given focal species actually co-occurs with other species in an assemblage. To address this knowledge gap, we used large-scale, long-term data sets of temperate woodland birds to select focal species associated with threatening processes such as habitat isolation and loss of key vegetation attributes. We quantified co-occurrence patterns among focal species, species in the wider bird assemblage, and species of conservation concern. Some, but not all, focal species were associated with high levels of species richness. One of our selected focal species was negatively associated with the occurrence of other species (i.e., it was an antisurrogate)-a previously undescribed property of nominated focal species. Furthermore, combinations of focal species were not associated with substantially elevated levels of bird species richness, relative to levels associated with individual species. Our results suggest that although there is some merit to the underpinning concept of the FSA, there is also a need to ensure that actions are sufficiently flexible because management tightly focused on a given focal species may not benefit some other species, including species of conservation concern, such of which might not occur in species-rich assemblages. PMID:25048948

  4. Tohoku University Focal Plane Array Controller (TUFPAC)

    NASA Astrophysics Data System (ADS)

    Ichikawa, Takashi; Matsumoto, Daigo; Yanagisawa, Kenshi; Katsuno, Yuka; Suzuki, Ryuji; Tokoku, Chihiro; Asai, Ken'ichiro; Nishimura, Tetsuo

    2003-03-01

    TUFPAC (Tohoku University Focal Plane Array Controller) is an array control system originally designed for flexible control and efficient data acquisition of 2048 x 2048 HgCdTe (HAWAII-2) array. A personal computer operated by Linux OS controls mosaic HAWAII-2s with commercially available DSP boards installed on the PCI bus. Triggered by PC, DSP sends clock data to front-end electronics, which is isolated from the DSP board by photo-couplers. Front-end electronics supply powers, biases and clock signals to HAWAII2. Pixel data are read from four outputs of each HAWAII2 simultaneously by way of four channel preamps and ADCs. Pixel data converted to 16 bit digital data are stored in the frame memory on the DSP board. Data are processed in the memory when necessary. PC receives the frame data and stores it in the hard disk of PC in FITS format. A set of the DSP board and front-end electronics is responsible for controlling each HAWAII-2. One PC can operate eight mosaic arrays at most. TUFPAC is applicable to the control of CCDs with minor changes of front-end electronics.

  5. Causes and pathogenesis of focal segmental glomerulosclerosis

    PubMed Central

    Fogo, Agnes B.

    2016-01-01

    Focal segmental glomerulosclerosis (FSGS) describes both a common lesion in progressive kidney disease, and a disease characterized by marked proteinuria and podocyte injury. The initial injuries vary widely. Monogenetic forms of FSGS are largely due to alterations in structural genes of the podocyte, many of which result in early onset of disease. Genetic risk alleles in apolipoprotein L1 are especially prevalent in African Americans, and are linked not only to adult-onset FSGS but also to progression of some other kidney diseases. The recurrence of FSGS in some transplant recipients whose end-stage renal disease was caused by FSGS points to circulating factors in disease pathogenesis, which remain incompletely understood. In addition, infection, drug use, and secondary maladaptive responses after loss of nephrons from any cause may also cause FSGS. Varying phenotypes of the sclerosis are also manifest, with varying prognosis. The so-called tip lesion has the best prognosis, whereas the collapsing type of FSGS has the worst prognosis. New insights into glomerular cell injury response and repair may pave the way for possible therapeutic strategies. PMID:25447132

  6. Focal Atrial Tachycardia Surrounding the Anterior Septum

    PubMed Central

    Wang, Zulu; Ouyang, Jinge; Liang, Yanchun; Jin, Zhiqing; Yang, Guitang; Liang, Ming; Li, Shibei; Yu, Haibo

    2015-01-01

    Background— Focal atrial tachycardias (ATs) surrounding the anterior atrial septum (AAS) have been successfully ablated from the right atrial septum (RAS), the aortic cusps, and the aortic mitral junction. However, the strategy for mapping and ablation of AAS-ATs has not been well defined. Methods and Results— Of 227 consecutive patients with AT, 47 (20.7%; mean age, 56.3±11.6 years) with AAS-ATs were studied; among them, initial ablation was successful at RAS in only 5 of 14 patients and at noncoronary cusp (NCC) in 28 of 33 patients. In 45 of the 47 patients, the 46 of 48 AAS-ATs were eliminated at RAS in 8 patients, NCC in 35 patients (earliest activation time at NCC was later than that at RAS by 5–10 ms in 6 patients), and aortic mitral junction in 3 patients (all with negative P wave in lead aVL and positive P wave in the inferior leads), including 1 patient whose 2 ATs were eliminated separately from the NCC and the aortic mitral junction. Conclusions— Most of the ATs surrounding the AAS can be eliminated from within the NCC, which is usually the preferential ablation site. Ablation at the RAS and aortic mitral junction should be considered when supported by P-wave morphologies on surface ECG and results of activation mapping and ablation. PMID:25908691

  7. Mosaic near-infrared focal plane array

    NASA Astrophysics Data System (ADS)

    Ichikawa, Takashi; Itoh, Nobunari; Yanagisawa, Kenshi; Asai, Kenichirou; Shiraishi, Tadashi; Kimata, Masafumi

    1998-08-01

    To built a 3K X 3K pixel near-IR FPA, we have made a package and a multi-chip module for Mitsubishi 1040 X 1040 PtSi CSD, which is one of the largest SWIR FPAs. Mosaicing demands smallest gaps between chips to achieve a large fill-factor and controlled flatness to fit a camera focal plane. The package of 52-pin half-pitch PGA has been designed to be smaller than the bear chip. After the chip is glued on the package and wire-bonded, nine packages with the chip are arrayed in three by three on a multi chip module (MCM) of 6 cm X 6 cm area. The fill-factor of the imaging area is 89 percent. The package and MCM are made of AlN ceramic of high thermal conductivity. MCM, therefore, plays a role of an efficient heat sink. The surface of the package, with which the chip is in contact, has been polished with accurate flatness as well as MCM. As the result, the height of nine chips built on MCM are uniform within approximately 20 micrometers in 6 cm X 6 cm area. The mosaic array will be equipped in a near-IR camera for astronomical observations of a wide field view.

  8. Novel PORCN mutations in focal dermal hypoplasia.

    PubMed

    Froyen, G; Govaerts, K; Van Esch, H; Verbeeck, J; Tuomi, M-L; Heikkilä, H; Torniainen, S; Devriendt, K; Fryns, J-P; Marynen, P; Järvelä, I; Ala-Mello, S

    2009-12-01

    Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.

  9. Dynamic MEG imaging of focal neuronal sources

    SciTech Connect

    Phillips, J.W.; Leahy R.M.; Mosher, J.C.

    1996-12-31

    We describe inverse methods for using the magnetoencephalogram (MEG) to image neural current sources associated with functional activation in the cerebral cortex. A Bayesian formulation is presented that is based on a Gibbs prior which reflects the sparse, focal nature of neural activation. The model includes a dynamic component so that we can utilize the full spatio-temporal data record to reconstruct a sequence of images reflecting changes in the current source amplitudes during activation. The model consists of the product of a binary field, representing the areas of activation in the cerebral cortex, and a time series at each site which represents the dynamic changes in the source amplitudes at the active sites. Our estimation methods are based on the optimization of three different functions of the posterior density. Each of these methods requires the estimation of a binary field which we compute using a mean field annealing method. We demonstrate and compare our methods in application to computer generated and experimental phantom data.

  10. Integrin Molecular Tension within Motile Focal Adhesions.

    PubMed

    Wang, Xuefeng; Sun, Jie; Xu, Qian; Chowdhury, Farhan; Roein-Peikar, Mehdi; Wang, Yingxiao; Ha, Taekjip

    2015-12-01

    Forces transmitted by integrins regulate many important cellular functions. Previously, we developed tension gauge tether (TGT) as a molecular force sensor and determined the threshold tension across a single integrin-ligand bond, termed integrin tension, required for initial cell adhesion. Here, we used fluorescently labeled TGTs to study the magnitude and spatial distribution of integrin tension on the cell-substratum interface. We observed two distinct levels of integrin tension. A >54 pN molecular tension is transmitted by clustered integrins in motile focal adhesions (FAs) and such force is generated by actomyosin, whereas the previously reported ∼40 pN integrin tension is transmitted by integrins before FA formation and is independent of actomyosin. We then studied FA motility using a TGT-coated surface as a fluorescent canvas, which records the history of integrin force activity. Our data suggest that the region of the strongest integrin force overlaps with the center of a motile FA within 0.2 μm resolution. We also found that FAs move in pairs and that the asymmetry in the motility of an FA pair is dependent on the initial FA locations on the cell-substratum interface.

  11. Terahertz detectors and focal plane arrays

    NASA Astrophysics Data System (ADS)

    Rogalski, A.; Sizov, F.

    2011-09-01

    Terahertz (THz) technology is one of emerging technologies that will change our life. A lot of attractive applications in security, medicine, biology, astronomy, and non-destructive materials testing have been demonstrated already. However, the realization of THz emitters and receivers is a challenge because the frequencies are too high for conventional electronics and the photon energies are too small for classical optics. As a result, THz radiation is resistant to the techniques commonly employed in these well established neighbouring bands. In the paper, issues associated with the development and exploitation of THz radiation detectors and focal plane arrays are discussed. Historical impressive progress in THz detector sensitivity in a period of more than half century is analyzed. More attention is put on the basic physical phenomena and the recent progress in both direct and heterodyne detectors. After short description of general classification of THz detectors, more details concern Schottky barrier diodes, pair braking detectors, hot electron mixers and field-effect transistor detectors, where links between THz devices and modern technologies such as micromachining are underlined. Also, the operational conditions of THz detectors and their upper performance limits are reviewed. Finally, recent advances in novel nanoelectronic materials and technologies are described. It is expected that applications of nanoscale materials and devices will open the door for further performance improvement in THz detectors.

  12. Acquired agraphia caused by focal brain damage.

    PubMed

    Anderson, S W; Saver, J; Tranel, D; Damasio, H

    1993-03-01

    Motor and linguistic aspects of writing were evaluated in 31 subjects with focal damage in 1 of 3 regions of the left hemisphere: (1) dorsolateral frontal lobe sparing primary motor cortex (group FL), (2) parietal lobe (group PL), or (3) temporal lobe (group TL). A standard procedure was used to evaluate writing for grapheme formation, spatial arrangement, spelling, word selection, grammar, and perseveration. It was predicted that agraphia would be observed in all 3 groups, and that the most severe impairments would be associated with frontal lobe damage, particularly in aspects of writing dependent on sequencing (grapheme formation, spelling, and grammar). It was found that agraphia was common in all groups, particularly in the acute epoch, and that all groups showed considerable recovery of writing by the chronic epoch. Few differences were found between groups. However, the FL group was impaired on spelling and grammar relative to the PL group in the acute epoch and impaired on grammar relative to the TL group in the chronic epoch. The findings are consistent with the notion that writing relies on a distributed neuroanatomical network, which acts in concert to link fragments of visuomotor activity with component linguistic elements.

  13. Antenna-coupled infrared focal plane array

    NASA Astrophysics Data System (ADS)

    Gonzalez, Francisco Javier

    In this dissertation a new type of infrared focal plane array (IR FPA) was investigated, consisting of antenna-coupled microbolometers fabricated using electron-beam lithography. Four different antenna designs were experimentally demonstrated at 10-micron wavelength: dipole, bowtie, square-spiral, and log-periodic. The main differences between these antenna types were their bandwidth, collection area, angular reception pattern, and polarization. To provide pixel collection areas commensurate with typical IR FPA requirements, two configurations were investigated: a two-dimensional serpentine interconnection of individual IR antennas, and a Fresnel-zone-plate (FZP) coupled to a single-element antenna. Optimum spacing conditions for the two-dimensional interconnect were developed. Increased sensitivity was demonstrated using a FZP-coupled design. In general, it was found that the configuration of the antenna substrate material was critical for optimization of sensitivity. The best results were obtained using thin membranes of silicon nitride to enhance the thermal isolation of the antenna-coupled bolometers. In addition, choice of the bolometer material was also important, with the best results obtained using vanadium oxide. Using optimum choices for all parameters, normalized sensitivity (D*) values in the range of mid 108 [cm Hz /W] were demonstrated for antenna-coupled IR sensors, and directions for further improvements were identified. Successful integration of antenna-coupled pixels with commercial readout integrated circuits was also demonstrated.

  14. Digital-pixel focal plane array development

    NASA Astrophysics Data System (ADS)

    Brown, Matthew G.; Baker, Justin; Colonero, Curtis; Costa, Joe; Gardner, Tom; Kelly, Mike; Schultz, Ken; Tyrrell, Brian; Wey, Jim

    2010-01-01

    Since 2006, MIT Lincoln Laboratory has been developing Digital-pixel Focal Plane Array (DFPA) readout integrated circuits (ROICs). To date, four 256 × 256 30 μm pitch DFPA designs with in-pixel analog to digital conversion have been fabricated using IBM 90 nm CMOS processes. The DFPA ROICs are compatible with a wide range of detector materials and cutoff wavelengths; HgCdTe, QWIP, and InGaAs photo-detectors with cutoff wavelengths ranging from 1.6 to 14.5 μm have been hybridized to the same digital-pixel readout. The digital-pixel readout architecture offers high dynamic range, A/C or D/C coupled integration, and on-chip image processing with low power orthogonal transfer operations. The newest ROIC designs support two-color operation with a single Indium bump connection. Development and characterization of the two-color DFPA designs is presented along with applications for this new digital readout technology.

  15. Multiwavelength infrared focal plane array detector

    NASA Technical Reports Server (NTRS)

    Forrest, Stephen R. (Inventor); Olsen, Gregory H. (Inventor); Kim, Dong-Su (Inventor); Lange, Michael J. (Inventor)

    1995-01-01

    A multiwavelength focal plane array infrared detector is included on a common substrate having formed on its top face a plurality of In.sub.x Ga.sub.1-x As (x.ltoreq.0.53) absorption layers, between each pair of which a plurality of InAs.sub.y P.sub.1-y (y<1) buffer layers are formed having substantially increasing lattice parameters, respectively, relative to said substrate, for preventing lattice mismatch dislocations from propagating through successive ones of the absorption layers of decreasing bandgap relative to said substrate, whereby a plurality of detectors for detecting different wavelengths of light for a given pixel are provided by removing material above given areas of successive ones of the absorption layers, which areas are doped to form a pn junction with the surrounding unexposed portions of associated absorption layers, respectively, with metal contacts being formed on a portion of each of the exposed areas, and on the bottom of the substrate for facilitating electrical connections thereto.

  16. The dispersion-focalization theory of sound systems

    NASA Astrophysics Data System (ADS)

    Schwartz, Jean-Luc; Abry, Christian; Boë, Louis-Jean; Vallée, Nathalie; Ménard, Lucie

    2005-04-01

    The Dispersion-Focalization Theory states that sound systems in human languages are shaped by two major perceptual constraints: dispersion driving auditory contrast towards maximal or sufficient values [B. Lindblom, J. Phonetics 18, 135-152 (1990)] and focalization driving auditory spectra towards patterns with close neighboring formants. Dispersion is computed from the sum of the inverse squared inter-spectra distances in the (F1, F2, F3, F4) space, using a non-linear process based on the 3.5 Bark critical distance to estimate F2'. Focalization is based on the idea that close neighboring formants produce vowel spectra with marked peaks, easier to process and memorize in the auditory system. Evidence for increased stability of focal vowels in short-term memory was provided in a discrimination experiment on adult French subjects [J. L. Schwartz and P. Escudier, Speech Comm. 8, 235-259 (1989)]. A reanalysis of infant discrimination data shows that focalization could well be the responsible for recurrent discrimination asymmetries [J. L. Schwartz et al., Speech Comm. (in press)]. Recent data about children vowel production indicate that focalization seems to be part of the perceptual templates driving speech development. The Dispersion-Focalization Theory produces valid predictions for both vowel and consonant systems, in relation with available databases of human languages inventories.

  17. Focal Adhesion Induction at the Tip of a Functionalized Nanoelectrode

    PubMed Central

    Fuentes, Daniela E.; Bae, Chilman; Butler, Peter J.

    2012-01-01

    Cells dynamically interact with their physical micro-environment through the assembly of nascent focal contacts and focal adhesions. The dynamics and mechanics of these contact points are controlled by transmembrane integrins and an array of intracellular adaptor proteins. In order to study the mechanics and dynamics of focal adhesion assembly, we have developed a technique for the timed induction of a nascent focal adhesion. Bovine aortic endothelial cells were approached at the apical surface by a nanoelectrode whose position was controlled with a resolution of 10s of nanometers using changes in electrode current to monitor distance from the cell surface. Since this probe was functionalized with fibronectin, a focal contact formed at the contact location. Nascent focal adhesion assembly was confirmed using time-lapse confocal fluorescent images of red fluorescent protein (RFP) – tagged talin, an adapter protein that binds to activated integrins. Binding to the cell was verified by noting a lack of change of electrode current upon retraction of the electrode. This study demonstrates that functionalized nanoelectrodes can enable precisely-timed induction and 3-D mechanical manipulation of focal adhesions and the assay of the detailed molecular kinetics of their assembly. PMID:22247742

  18. Focal Length Affects Depicted Shape and Perception of Facial Images.

    PubMed

    Třebický, Vít; Fialová, Jitka; Kleisner, Karel; Havlíček, Jan

    2016-01-01

    Static photographs are currently the most often employed stimuli in research on social perception. The method of photograph acquisition might affect the depicted subject's facial appearance and thus also the impression of such stimuli. An important factor influencing the resulting photograph is focal length, as different focal lengths produce various levels of image distortion. Here we tested whether different focal lengths (50, 85, 105 mm) affect depicted shape and perception of female and male faces. We collected three portrait photographs of 45 (22 females, 23 males) participants under standardized conditions and camera setting varying only in the focal length. Subsequently, the three photographs from each individual were shown on screen in a randomized order using a 3-alternative forced-choice paradigm. The images were judged for attractiveness, dominance, and femininity/masculinity by 369 raters (193 females, 176 males). Facial width-to-height ratio (fWHR) was measured from each photograph and overall facial shape was analysed employing geometric morphometric methods (GMM). Our results showed that photographs taken with 50 mm focal length were rated as significantly less feminine/masculine, attractive, and dominant compared to the images taken with longer focal lengths. Further, shorter focal lengths produced faces with smaller fWHR. Subsequent GMM revealed focal length significantly affected overall facial shape of the photographed subjects. Thus methodology of photograph acquisition, focal length in this case, can significantly affect results of studies using photographic stimuli perhaps due to different levels of perspective distortion that influence shapes and proportions of morphological traits. PMID:26894832

  19. Focal Length Affects Depicted Shape and Perception of Facial Images

    PubMed Central

    Třebický, Vít; Fialová, Jitka; Kleisner, Karel; Havlíček, Jan

    2016-01-01

    Static photographs are currently the most often employed stimuli in research on social perception. The method of photograph acquisition might affect the depicted subject’s facial appearance and thus also the impression of such stimuli. An important factor influencing the resulting photograph is focal length, as different focal lengths produce various levels of image distortion. Here we tested whether different focal lengths (50, 85, 105 mm) affect depicted shape and perception of female and male faces. We collected three portrait photographs of 45 (22 females, 23 males) participants under standardized conditions and camera setting varying only in the focal length. Subsequently, the three photographs from each individual were shown on screen in a randomized order using a 3-alternative forced-choice paradigm. The images were judged for attractiveness, dominance, and femininity/masculinity by 369 raters (193 females, 176 males). Facial width-to-height ratio (fWHR) was measured from each photograph and overall facial shape was analysed employing geometric morphometric methods (GMM). Our results showed that photographs taken with 50 mm focal length were rated as significantly less feminine/masculine, attractive, and dominant compared to the images taken with longer focal lengths. Further, shorter focal lengths produced faces with smaller fWHR. Subsequent GMM revealed focal length significantly affected overall facial shape of the photographed subjects. Thus methodology of photograph acquisition, focal length in this case, can significantly affect results of studies using photographic stimuli perhaps due to different levels of perspective distortion that influence shapes and proportions of morphological traits. PMID:26894832

  20. Far-Infrared Focal Plane Arrays

    NASA Astrophysics Data System (ADS)

    Betz, A. L.; Boreiko, R. T.; Sivananthan, S.; Zhou, Y. D.

    The development of focal plane arrays has dramatically increased the sensitivity and efficiency of optical and infrared telescopes. The versatility of HgCdTe alloy technology has been demonstrated by detector arrays with cutoff wavelengths tailored between λc = 1-10 μm. Although the cutoff wavelength can theoretically be extended to infinity (zero gap) by increasing the HgTe mole fraction, the required accuracy of the alloy composition is difficult to achieve with conventional liquid-phase-epitaxy (LPE). The more recent technique of molecular-beam-epitaxy (MBE), on the other hand, provides the necessary precision, and detector arrays appear feasible out to λc = 100 μm. Although the alloy approach should work, an alternate device structure may prove superior. Rather than alloying HgTe and CdTe, one can deposit alternating layers of the two materials in a composite structure called a superlattice (SL). Because layer thickness (rather than alloy composition) determines the cutoff wavelength in a SL, this approach should prove easier for fabricating an Eg = 0.01 eV semiconductor. Photodiodes made from SL material should also have lower tunneling currents, which are the dominant source of noise in low gap devices. This talk will describe a NASA-funded project to develop HgCdTe detectors for FIR wavelengths. Work is now in progress on the fabrication of discrete detectors, with emphasis on the superlattice approach. Within 3 years we hope to have a 32 x 32 element array for λ = 50-60 μm. The ultimate goal is a 128 x 128 element array for λ = 50-100 μm that could be used on a SOFIA instrument.

  1. Deep ultraviolet (254 nm) focal plane array

    NASA Astrophysics Data System (ADS)

    Cicek, Erdem; Vashaei, Zahra; McClintock, Ryan; Razeghi, Manijeh

    2011-10-01

    We report the synthesis, fabrication and testing of a 320 × 256 focal plane array (FPA) of back-illuminated, solarblind, p-i-n, AlxGa1-xN-based detectors, fully realized within our research laboratory. We implemented a novel pulsed atomic layer deposition technique for the metalorganic chemical vapor deposition (MOCVD) growth of crackfree, thick, and high Al composition AlxGa1-xN layers. Following the growth, the wafer was processed into a 320 × 256 array of 25 μm × 25 μm pixels on a 30 μm pixel-pitch and surrounding mini-arrays. A diagnostic mini-array was hybridized to a silicon fan-out chip to allow the study of electrical and optical characteristics of discrete pixels of the FPA. At a reverse bias of 1 V, an average photodetector exhibited a low dark current density of 1.12×10-8 A/cm2. Solar-blind operation is observed throughout the array with peak detection occurring at wavelengths of 256 nm and lower and falling off three orders of magnitude by 285 nm. After indium bump deposition and dicing, the FPA is hybridized to a matching ISC 9809 readout integrated circuit (ROIC). By developing a novel masking technology, we significantly reduced the visible response of the ROIC and thus the need for external filtering to achieve solar- and visible-blind operation is eliminated. This allowed the FPA to achieve high external quantum efficiency (EQE): at 254 nm, average pixels showed unbiased peak responsivity of 75 mA/W, which corresponds to an EQE of ~37%. Finally, the uniformity of the FPA and imaging properties are investigated.

  2. Microlenses with focal length controlled by chemical processes

    NASA Astrophysics Data System (ADS)

    Muric, B. D.; Panic, B. M.

    2012-05-01

    The influence of chemical processing on the optical properties of microlenses formed on a gelatin-sensitized layer was investigated. The gelatin is sensitized with tot'hema and eosin, irradiated with a Gaussian profile laser beam and subsequently chemically processed. Microlenses with a focal length of 400 μm were obtained after alcohol processing. Additionally, focal lengths could be controlled by varying the alum concentration, and lenses with focal length up to 1.2 mm were obtained. The microlenses become stable after alum processing. Their optical properties remain unchanged.

  3. Scanning Characteristics of Metamirror Antennas With Subwavelength Focal Distance

    NASA Astrophysics Data System (ADS)

    Tcvetkova, Svetlana N.; Asadchy, Viktar S.; Tretyakov, Sergei A.

    2016-08-01

    We investigate beam scanning by lateral feed displacement in novel metasurface based reflector antennas with extremely short focal distances. Electric field distributions of the waves reflected from the antenna are studied numerically and experimentally for defocusing angles up to 24 degrees. The results show that despite extremely small focal distances, the scanning ability of metamirrors is similar to that of comparable reflectarrays. In addition to offering a possibility to realize extremely small focal distances, metamirror antennas are practically penetrable and invisible for any radiation outside of the operating frequency range.

  4. Thermal analysis of the DES camera focal plate.

    SciTech Connect

    Guarino, V.; High Energy Physics

    2008-02-13

    A design specification for the DES Camera focal plate is to keep the deformation of the plate to less than 30 microns under operating conditions. Figure 1 shows the assembly of the focal plate, the support bipods and support ring, and the copper braid assemblies. Several studies were done to examine the deformation of the focal plate under different thermal and structural constraints. Simple hand calculations were also performed as a check of the finite element model and results. The main goal of this analysis was to determine the deformation of the plate and to understand what thermal and structural conditions are causing the deformation.

  5. Intermediate filaments and the regulation of focal adhesion.

    PubMed

    Leube, Rudolf E; Moch, Marcin; Windoffer, Reinhard

    2015-02-01

    Focal adhesions are localized actin filament-anchoring signalling centres at the cell-extracellular matrix interface. The currently emerging view is that they fulfil an all-embracing coordinating function for the entire cytoskeleton. This review highlights the tight relationship between focal adhesions and the intermediate filament cytoskeleton. We summarize the accumulating evidence for direct binding of intermediate filaments to focal adhesion components and their mutual cross-talk through signalling molecules. Examples are presented to emphasize the high degree of complexity of these interactions equipping cells with a precisely controlled machinery for context-dependent adjustment of their biomechanical properties.

  6. Focal cemento-osseous dysplasia: review and a case report.

    PubMed

    Salem, Y M Y; Osman, Y I; Norval, E J G

    2010-10-01

    Focal cemento-osseous dysplasia is a benign fibro-osseous condition that can be seen in dentate and edentulous patients. It is an asymptomatic lesion and needs no treatment; however follow-up is essential due to the possibility that focal cemento-osseous dysplasia can progress to a condition called florid osseous dysplasia that involves multiple sites. A case report is presented here, along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  7. Naxos Disease1

    PubMed Central

    Protonotarios, Nikos; Tsatsopoulou, Adalena

    2005-01-01

    Since 1995, according to the World Health Organisation’s classification of cardiomyopathies, Naxos disease has been considered as the recessive form of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). It is a stereotype association of ARVD/C with a cutaneous phenotype, characterised by woolly hair and palmoplantar keratoderma. PMID:16943947

  8. Tyrosinaemia II.

    PubMed

    Colditz, P B; Yu, J S; Billson, F A; Rogers, M; Molloy, H F; O'Halloran, M; Wilcken, B

    1984-08-18

    Four cases of tyrosinaemia type II (Richner-Hanhart syndrome) are reported. This syndrome consists of corneal erosions, palmar and plantar hyperkeratoses, and sometimes mental retardation. Presentation with photophobia and dendritic corneal ulceration or circumscribed palmoplantar keratoderma should alert the physician to the possible diagnosis of tyrosinaemia II. Early diagnosis is important, as the clinical picture can be modified by dietary restriction.

  9. A practical approach to management of focal hand dystonia

    PubMed Central

    Pandey, Sanjay

    2015-01-01

    Dystonia can be focal, segmental, multifocal, generalized, or hemidystonia. Focal dystonia is localized to a specific part of the body. Overall upper limb is more commonly involved in focal dystonia than lower limb and since it starts from hand, focal hand dystonia (FHD) is a more accepted terminology. Writer's cramp and musician dystonia are commonest types of FHD. Typically this dystonia is task specific, but in some patients this specificity may be lost over a period of time. Segmental or generalized dystonia may also start as FHD, so a detailed clinical assessment is required, which should be supplemented by relevant investigations. Treatment includes oral medications, injection botulinum toxin, neurosurgery including neurostimulation, and rehabilitation. Role of injection botulinum toxin has been extensively studied in writer's cramp patients and found to be effective; however, selection of muscles and techniques of injection are crucial in getting best results. PMID:26019409

  10. Real-time focal stack compositing for handheld mobile cameras

    NASA Astrophysics Data System (ADS)

    Solh, Mashhour

    2013-03-01

    Extending the depth of field using a single lens camera on a mobile device can be achieved by capturing a set of images each focused at a different depth or focal stack then combine these samples of the focal stack to form a single all-in-focus image or an image refocused at a desired depth of field. Focal stack compositing in real time for a handheld mobile camera has many challenges including capturing, processing power, handshaking, rolling shutter artifacts, occlusion, and lens zoom effect. In this paper, we describe a system for a real time focal stack compositing system for handheld mobile device with an alignment and compositing algorithms. We will also show all-in-focus images captured and processed by a cell phone camera running on Android OS.

  11. Focal Therapy of Prostate Cancer Using Irreversible Electroporation.

    PubMed

    Valerio, Massimo; Ahmed, Hashim U; Emberton, Mark

    2015-09-01

    Focal therapy is a novel strategy that attempts to enhance the therapeutic ratio of standard radical treatment in prostate cancer. Irreversible electroporation (IRE) has some inherent characteristics that may be ideal for focal therapy. Precise confined ablation in the treatment area obtained via nonthermal damage with potential for minimal toxicity to surrounding structures may lead to optimal treatment with improved preservation of continence and erectile function. Initial data of focal IRE of the prostate are encouraging although further assessment is awaited to confirm these findings using robust methodology. In this article, we provide a comprehensive step-by-step description of our technique to deliver focal IRE in selected men with localized prostate cancer located in a discrete area of the prostate.

  12. "Focal" Color Areas and the Development of Color Names

    ERIC Educational Resources Information Center

    Heider, Eleanor Rosch

    1971-01-01

    Three experiments using 3- and 4-year-olds as subjects tested the hypothesis that focal colors are more salient than nonfocal colors for young children and are the areas to which color names initially become attached. (NH)

  13. Creation of identical multiple focal spots with prescribed axial distribution.

    PubMed

    Yu, Yanzhong; Zhan, Qiwen

    2015-01-01

    We present a scheme for the construction of coaxially equidistant multiple focal spots with identical intensity profiles for each individual focus and a predetermined number and spacing. To achieve this, the radiation field from an antenna is reversed and then gathered by high numerical aperture objective lenses. Radiation patterns from three types of line sources, i.e., the electric current, magnetic current and electromagnetic current distributions, with cosine-squared taper are respectively employed to generate predominately longitudinally polarized bright spots, azimuthally polarized doughnuts, and focal spots with a perfect spherically symmetric intensity distribution. The required illuminations at the pupil plane of a 4Pi focusing configuration for the creation of these identical multiple focal spots can be easily derived by solving the inverse problem of the antenna radiation field. These unique focal field distributions may find potential applications in laser direct writing and optical microscopy, as well as multiple-particle trapping, alignment, and acceleration along the optical axis. PMID:26424051

  14. Creation of identical multiple focal spots with prescribed axial distribution

    NASA Astrophysics Data System (ADS)

    Yu, Yanzhong; Zhan, Qiwen

    2015-10-01

    We present a scheme for the construction of coaxially equidistant multiple focal spots with identical intensity profiles for each individual focus and a predetermined number and spacing. To achieve this, the radiation field from an antenna is reversed and then gathered by high numerical aperture objective lenses. Radiation patterns from three types of line sources, i.e., the electric current, magnetic current and electromagnetic current distributions, with cosine-squared taper are respectively employed to generate predominately longitudinally polarized bright spots, azimuthally polarized doughnuts, and focal spots with a perfect spherically symmetric intensity distribution. The required illuminations at the pupil plane of a 4Pi focusing configuration for the creation of these identical multiple focal spots can be easily derived by solving the inverse problem of the antenna radiation field. These unique focal field distributions may find potential applications in laser direct writing and optical microscopy, as well as multiple-particle trapping, alignment, and acceleration along the optical axis.

  15. Compact Focal Plane Assembly for Planetary Science

    NASA Technical Reports Server (NTRS)

    Brown, Ari; Aslam, Shahid; Huang, Wei-Chung; Steptoe-Jackson, Rosalind

    2013-01-01

    A compact radiometric focal plane assembly (FPA) has been designed in which the filters are individually co-registered over compact thermopile pixels. This allows for construction of an ultralightweight and compact radiometric instrument. The FPA also incorporates micromachined baffles in order to mitigate crosstalk and low-pass filter windows in order to eliminate high-frequency radiation. Compact metal mesh bandpass filters were fabricated for the far infrared (FIR) spectral range (17 to 100 microns), a game-changing technology for future planetary FIR instruments. This fabrication approach allows the dimensions of individual metal mesh filters to be tailored with better than 10- micron precision. In contrast, conventional compact filters employed in recent missions and in near-term instruments consist of large filter sheets manually cut into much smaller pieces, which is a much less precise and much more labor-intensive, expensive, and difficult process. Filter performance was validated by integrating them with thermopile arrays. Demonstration of the FPA will require the integration of two technologies. The first technology is compact, lightweight, robust against cryogenic thermal cycling, and radiation-hard micromachined bandpass filters. They consist of a copper mesh supported on a deep reactive ion-etched silicon frame. This design architecture is advantageous when constructing a lightweight and compact instrument because (1) the frame acts like a jig and facilitates filter integration with the FPA, (2) the frame can be designed so as to maximize the FPA field of view, (3) the frame can be simultaneously used as a baffle for mitigating crosstalk, and (4) micron-scale alignment features can be patterned so as to permit high-precision filter stacking and, consequently, increase the filter bandwidth and sharpen the out-of-band rolloff. The second technology consists of leveraging, from another project, compact and lightweight Bi0.87Sb0.13/Sb arrayed thermopiles

  16. Inflammatory pancreatic masses: problems in differentiating focal pancreatitis from carcinoma

    SciTech Connect

    Neff, C.C.; Simeone, J.F.; Wittenberg, J.; Mueller, P.R.; Ferrucci, J.T. Jr.

    1984-01-01

    The authors studied 19 patients with focal inflammatory masses of the pancreas over an 18-month period. In 13 cases, transhepatic cholangiography and/or endoscopic retrograde cholangiopancreatography were unsuccessful in differentiating pancreatitis from carcinoma. Eighteen patients had a history of alcohol abuse, and 12 had had pancreatitis previously. Pre-existing glandular injury appears to be a prerequisite to formation of focal inflammatory pancreatic masses.

  17. [Histoplasmin skin test and focal hemorrhagic chorioiditis (author's transl)].

    PubMed

    Schildberg, P; Wessing, A; Eller, B

    1975-02-01

    A histoplasmin skin test was performed on 56 patients with focal hemorrhagic choroiditis. The test was negative in 53 choroiditis patients and positive in three patients. The three patients with posi-ive skin test had been living for a long time in the eastern part of the U.S.A. where histoplasma capsulatum occurs endemically. The results of this study suggest that the infection with histoplasmin capsulatum is not the cause of focal hemorrhagic choroiditis in our area.

  18. Thermomechanical architecture of the VIS focal plane for Euclid

    NASA Astrophysics Data System (ADS)

    Martignac, Jérôme; Carty, Michaël.; Tourette, Thierry; Bachet, Damien; Berthé, Michel; Augueres, Jean-Louis; Amiaux, Jérôme; Fontignie, Jean; Horeau, Benoît; Renaud, Diana; Pottinger, Sabrina; Denniston, James; Winter, Berend; Guttridge, Phillip; Cole, Richard; Cropper, Mark; Niemi, Sami; Coker, John; Hunt, Thomas

    2014-08-01

    One of the main challenges for current and near future space experiments is the increase of focal plane complexity in terms of amount of pixels. In the frame work of the ESA Euclid mission to be launched in 2020, the Euclid Consortium is developing an extremely large and stable focal plane for the VIS instrument. CEA has developed the thermomechanical architecture of that Focal Plane taking into account all the very stringent performance and mission related requirements. The VIS Focal Plane Assembly integrates 36 CCDs (operated at 150K) connected to their front end electronics (operated at 280K) as to obtain one of the largest focal plane (˜0.6 billion pixels) ever built for space application after the GAIA one. The CCDs are CCD273 type specially designed and provided by the e2v company under ESA contract, front end electronics is studied and provided by MSSL. In this paper we first recall the specific requirements that have driven the overall architecture of the VIS-FPA and especially the solutions proposed to cope with the scientific needs of an extremely stable focal plane, both mechanically and thermally. The mechanical structure based on SiC material used for the cold sub assembly supporting the CCDs is detailed. We describe also the modular architecture concept that we have selected taking into account AIT-AIV and programmatic constraints.

  19. Recurrent Focal Segmental Glomerulosclerosis and Abatacept: Case Report.

    PubMed

    Alkandari, Omar; Nampoory, Narayanan; Nair, Prasad; Atta, Ahmed; Zakaria, Zakaria; Mossad, Ahmed; Yagan, Jude; Al-Otaibi, Torki

    2016-08-01

    Focal segmental glomerulosclerosis is a common cause of end-stage renal disease in children. Focal segmental glomerulosclerosis recurrence in renal transplants is a challenging disease, and can cause graft dysfunction and loss. Different therapies exist with varying responses, from complete remission to resistance to all modes of treatment. Abatacept was recently introduced as a treatment for primary focal segmental glomerulosclerosis in native kidneys and in recurrent disease after transplant. We present a pediatric case with immunosuppression-resistant primary NPHS2-negative focal segmental glomerulosclerosis recur-rence after renal transplant. The standard therapy for recurrent focal segmental glomerulosclerosis (rituximab, plasmapheresis, high-dose cyclosporine, and corticosteroids) was tried but failed to induce remission. Abatacept (10 mg/kg) was given at 0, 2, and 4 weeks (total, 3 doses) with no good response. We conclude that abatacept may work in patients with B7-1-positive focal segmental glomerulosclerosis recurrence and its efficacy is uncertain in disease with B7-1-negative or unknown staining status. PMID:25432003

  20. [Localized prostate cancer Focal Therapy: "A la carte" Model].

    PubMed

    Linares Espinós, E; Barret, E; Sivaraman, A; Pérez-Reggeti, J I; Sánchez-Salas, R; Rozet, F; Galiano, M; Cathelineau, X

    2016-07-01

    Focal therapy has settled as an alternative to radical treatment in selected cases of localized prostate cancer. The selection of patients who are candidates for focal therapy is based on imaging diagnosis relying on multiparametric MRI and image fusion techniques. Thanks to the oncological results and safety profiles of initial series, various energy sources have been developed over the last years. The availability of multiple types of energy sources for focal therapy, commits us to evaluate what type of energy would be the optimal depending on patient's profile and type of lesion. A unique energy for focal therapy would be ideal, but facing the research of the various types of energy we must identify which one is recommended for each lesion. With the experience of our center in different approaches of focal therapy we propose the "A LA CARTE" MODEL based on localization of the lesion. We present the criteria the "a la carte" model is based on, supported by the published evidence on the use of different ablative therapies for the treatment of localized prostate cancer. Lesion localization, technical characteristics of each type of energy, patient's profile and secondary effects must be considered in every choice of focal therapy. PMID:27416638

  1. mTOR signaling pathway genes in focal epilepsies.

    PubMed

    Baulac, S

    2016-01-01

    Focal epilepsies, where seizures initiate in spatially limited networks, are the most frequent epilepsy type, accounting for two-thirds of patients. Focal epilepsies have long been thought to be acquired disorders; several focal epilepsy syndromes are now proven to be (genetically heterogeneous) monogenic disorders. While earlier genetic studies have demonstrated a strong contribution of ion channel and neurotransmitter receptor genes, or synaptic secreted protein genes, later work has revealed a new class of genes encoding components of the mechanistic target of rapamycin (mTOR) signal transduction pathway. The mTOR pathway controls a myriad of biological processes among which cell growth and protein synthesis in response to several extracellular and intracellular. Recently, germline mutations have been found in genes encoding the components of the GATOR1 complex (DEPDC5, NPRL2, NPRL3), a repressor of mTORC1. These mutations are increasingly recognized as causing a wide and yet evolving spectrum of focal epilepsy syndromes, with and without cortical structural abnormalities (usually focal cortical dysplasia). Brain somatic mutations in the gene encoding mTOR (MTOR) have recently been linked to focal cortical dysplasia and other associated brain pathologies including hemimegalencephaly. This chapter reviews the genetics and neurobiology of DEPDC5, NPRL2, and NPRL3, and summarizes the clinical and molecular spectrum of GATOR1-related epilepsies. PMID:27323939

  2. Chronic arsenic poisoning from well water in a mining area in Thailand.

    PubMed

    Foy, H M; Tarmapai, S; Eamchan, P; Metdilogkul, O

    Endemic arsenic poisoning manifested by palmoplantar keratoderma and hyperpigmentation was surveyed in a village in a tin and wolfram mining area in southern Thailand where two cases of Bowen's carcinoma had occurred. Nine percent of examined adults randomly selected from 58 households were found to have skin manifestations of arsenic poisoning. Also, children with typical palmoplantar keratoderma were recognized, the youngest being four years old. A seven-year-old with severe keratoderma also had neurological manifestations and appeared mentally retarded. Arsenic concentration in shallow wells varied between 0.02-2.7 mg/l (average 0.82), and piped water had 0.07 mg/l. A major source of the contamination of ground water probably was slag heaps positioned next to a stream that fed the village.

  3. MR imaging features of focal liver lesions in Wilson disease.

    PubMed

    Dohan, Anthony; Vargas, Ottavia; Dautry, Raphael; Guerrache, Youcef; Woimant, France; Hamzi, Lounis; Boudiaf, Mourad; Poujois, Aurelia; Faraoun, Sid Ahmed; Soyer, Philippe

    2016-09-01

    Hepatic involvement in Wilson disease (WD) manifests as a diffuse chronic disease in the majority of patients. However, in a subset of patients focal liver lesions may develop, presenting with a wide range of imaging features. The majority of focal liver lesions in patients with WD are benign nodules, but there are reports that have described malignant liver tumors or dysplastic nodules in these patients. Because of the possibility of malignant transformation of liver nodules, major concerns have been raised with respect to the management and follow-up of patients with WD in whom focal liver lesions have been identified. The assessment of liver involvement in patients with WD is generally performed with ultrasonography. However, ultrasonography conveys limited specificity so that magnetic resonance (MR) imaging is often performed to improve lesion characterization. This review was performed to illustrate the spectrum of MR imaging features of focal liver lesions that develop in patients with WD. It is assumed that familiarity with the MR imaging presentation of focal liver lesions in WD may help clarify the actual nature of hepatic nodules in patients with this condition. PMID:27116011

  4. MR imaging features of focal liver lesions in Wilson disease.

    PubMed

    Dohan, Anthony; Vargas, Ottavia; Dautry, Raphael; Guerrache, Youcef; Woimant, France; Hamzi, Lounis; Boudiaf, Mourad; Poujois, Aurelia; Faraoun, Sid Ahmed; Soyer, Philippe

    2016-09-01

    Hepatic involvement in Wilson disease (WD) manifests as a diffuse chronic disease in the majority of patients. However, in a subset of patients focal liver lesions may develop, presenting with a wide range of imaging features. The majority of focal liver lesions in patients with WD are benign nodules, but there are reports that have described malignant liver tumors or dysplastic nodules in these patients. Because of the possibility of malignant transformation of liver nodules, major concerns have been raised with respect to the management and follow-up of patients with WD in whom focal liver lesions have been identified. The assessment of liver involvement in patients with WD is generally performed with ultrasonography. However, ultrasonography conveys limited specificity so that magnetic resonance (MR) imaging is often performed to improve lesion characterization. This review was performed to illustrate the spectrum of MR imaging features of focal liver lesions that develop in patients with WD. It is assumed that familiarity with the MR imaging presentation of focal liver lesions in WD may help clarify the actual nature of hepatic nodules in patients with this condition.

  5. Hot spot liver scan in focal nodular hyperplasia

    SciTech Connect

    Piers, D.A.; Houthoff, H.J.; Krom, R.A.F.; Schuur, K.H.; Sikkens, H.; Weits, J.

    1980-12-01

    In scintigraphy of the liver with radiocolloid, space-occupying lesions generally are visualized as regions of decreased accumulation of radioactivity. Rarely focal areas of increased activity are depicted; most are related to altered vascular dynamics in the liver secondary to obstruction of the superior or inferior vena cava or the hepatic veins. There are reports of single cases of focally increased activity due to a hepatic hemangioma, hepatic venoocclusive disease, herniation of a part of the liver, and a liver hot spot found after radiocolloid injection via a malpositioned central venous catheter in one of the hepatic vein branches. In patients with focal nodular hyperplasia, liver scans with solitary defects as well as normal patterns are found. In some cases, increased uptake of colloid in the lesion has been documented. Pasquier and Dorta reported a patient with a palpable mass in the left liver lobe with increased accumulation of radioactivity on the radiocolloid liver scan. The histologic diagnosis was hamartoma, but reviewing the description and considering the confusion in the past concerning the nomenclature, this case is suggestive of focal nodular hyperplasia. We report a patient with focal nodular hyperplasia who had increased radiocolloid uptake in the lesion. The radionuclide studies are compared with angiography, sonography, and computed tomography. An explanation for the localized increased colloid accumulation based on histologic findings is suggested.

  6. Focal organizing pneumonia mimicking lung cancer: a surgeon's view.

    PubMed

    Zheng, Zhi; Pan, Youmin; Song, Chaoguo; Wei, Hao; Wu, Shimin; Wei, Xiang; Pan, Tiecheng; Li, Jun

    2012-01-01

    Focal organizing pneumonia is a unique form of organizing pneumonia. Little is known regarding its clinical and radiological feature, diagnosis, management, and outcome. Twenty patients with focal organizing pneumonia were investigated and compared with 40 patients with bronchogenic carcinoma. There were 38 men (63.3%) and 22 women (36.7%). The mean age was 55 ± 9.9 years. No specific feature in clinical and radiological manifestation was found to distinguish between focal organizing pneumonia and bronchogenic carcinoma. In patients with focal organizing pneumonia, wedge resection was performed in 12 cases and lobectomy in eight cases. Follow-up was complete with a median period of 26 months (range, 6 to 104 months). All patients were free from recurrence of organizing pneumonia. Clinical and radiologic findings of focal organizing pneumonia are nonspecific, and this unique form of organizing pneumonia is difficult to differentiate from lung cancer. Surgical resection allows both diagnosis and cure. However, considering the benign nature of this disease, major pulmonary resections should be avoided.

  7. Combined scanning transmission electron microscopy tilt- and focal series.

    PubMed

    Dahmen, Tim; Baudoin, Jean-Pierre; Lupini, Andrew R; Kübel, Christian; Slusallek, Philipp; de Jonge, Niels

    2014-04-01

    In this study, a combined tilt- and focal series is proposed as a new recording scheme for high-angle annular dark-field scanning transmission electron microscopy (STEM) tomography. Three-dimensional (3D) data were acquired by mechanically tilting the specimen, and recording a through-focal series at each tilt direction. The sample was a whole-mount macrophage cell with embedded gold nanoparticles. The tilt-focal algebraic reconstruction technique (TF-ART) is introduced as a new algorithm to reconstruct tomograms from such combined tilt- and focal series. The feasibility of TF-ART was demonstrated by 3D reconstruction of the experimental 3D data. The results were compared with a conventional STEM tilt series of a similar sample. The combined tilt- and focal series led to smaller "missing wedge" artifacts, and a higher axial resolution than obtained for the STEM tilt series, thus improving on one of the main issues of tilt series-based electron tomography.

  8. Variable-focal lens using electroactive polymer actuator

    NASA Astrophysics Data System (ADS)

    Vunder, V.; Punning, A.; Aabloo, A.

    2011-03-01

    The paper describes a simple and cost-effective design and fabrication process of a liquid-filled variable-focal lens. The lens was made of soft polymer material, its shape and curvature can be controlled by hydraulic pressure. An electroactive polymer is used as an actuator. A carbon-polymer composite (CPC) was used. The device is composed of elastic membrane upon a circular lens chamber, a reservoir of liquid, and a channel between them. It was made of three layers of polydimethylsiloxane (PDMS), bonded using the partial curing technique. The channels and reservoir were filled with incompressible liquid after curing process. A CPC actuator was mechanically attached to reservoir to compress or decompress the liquid. Squeezing the liquid between the reservoir and the lens chamber will push the membrane inward or outward resulting in the change of the shape of the lens and alteration of its focal length. Depending on the pressure the lens can be plano-convex or plano-concave or even switch between the two configurations. With only a few minor modifications it is possible to fabricate bi-convex and bi-concave lenses. The lens with a 1 mm diameter and the focal length from infinity to 17 mm is reported. The 5x15mm CPC actuator with the working voltage of only up to +/-2.5 V was capable to alter the focal length within the full range of the focal length in 10 seconds.

  9. Design and fabrication of long focal length microlens arrays

    NASA Astrophysics Data System (ADS)

    Hsieh, Hsin-Ta; Lin, Vinna; Hsieh, Jo-Lan; Su, Guo-Dung John

    2011-10-01

    In this paper, we present microlens arrays (MLA) with long focal length (in millimeter range) based on thermal reflow process. The focal length of microlens is usually in the same order of lens diameter or several hundred microns. To extend focal length, we made a photoresist (SU-8) MLA covered by a Polydimethylsiloxane (PDMS) film on a glass substrate. Because the refractive index difference between PDMS and photoresist interface is lower than that of air and MLA interface, light is less bended when passing through MLA and is focused at longer distance. Microlenses of diameters from 50 μm to 240 μm were successfully fabricated. The longest focal length was 2.1 mm from the microlens of 240 μm diameter. The numerical aperture (NA) was reduced 0.06, which is much lower than the smallest NA (~ 0.15) by regular thermal reflow processes. Cured PDMS has high transmittance and becomes parts of MLA without too much optical power loss. Besides, other focal lengths can be realized by modifying the refractive index different between two adjacent materials as described in this paper.

  10. Imaging techniques for prostate cancer: implications for focal therapy

    PubMed Central

    Turkbey, Baris; Pinto, Peter A.; Choyke, Peter L.

    2012-01-01

    The multifocal nature of prostate cancer has necessitated whole-gland therapy in the past; however, since the widespread use of PSA screening, patients frequently present with less-advanced disease. Many men with localized disease wish to avoid the adverse effects of whole-gland therapy; therefore, focal therapy for prostate cancer is being considered as a treatment option. For focal treatment to be viable, accurate imaging is required for diagnosis, staging, and monitoring of treatment. Developments in MRI and PET have brought more attention to prostate imaging and the possibility of improving the accuracy of focal therapy. In this Review, we discuss the advantages and disadvantages of conventional methods for imaging the prostate, new developments for targeted imaging, and the possible role of image-guided biopsy and therapy for localized prostate cancer. PMID:19352394

  11. Focal epilepsy with ictal abdominal pain: a case report.

    PubMed

    Cerminara, Caterina; El Malhany, Nadia; Roberto, Denis; Curatolo, Paolo

    2013-01-01

    Focal epilepsy with ictal abdominal pain is an unusual partial epilepsy characterized by paroxysmal episodes of abdominal or visceral pain, disturbance of awareness and electroencephalographic abnormalities. We describe a new case of ictal abdominal pain in which gastrointestinal complaints were the only manifestation of seizures and review the previously described pediatric patients. In our patient clinical findings, ictal EEG abnormalities, and a good response to antiepileptic drugs allowed us to make a diagnosis of focal epilepsy with ictal abdominal pain. This is a rare epileptic phenomenon that should be suspected in patients with unexplained paroxysmal abdominal pain and migraine-like symptoms. We suggest that, after the exclusion of more common etiologies, focal epilepsy with ictal abdominal pain should be considered in patients with paroxysmal abdominal pain and ictal EEG abnormalities. PMID:24321431

  12. LiteBIRD: Mission Overview and Focal Plane Layout

    NASA Astrophysics Data System (ADS)

    Matsumura, T.; Akiba, Y.; Arnold, K.; Borrill, J.; Chendra, R.; Chinone, Y.; Cukierman, A.; de Haan, T.; Dobbs, M.; Dominjon, A.; Elleflot, T.; Errard, J.; Fujino, T.; Fuke, H.; Goeckner-wald, N.; Halverson, N.; Harvey, P.; Hasegawa, M.; Hattori, K.; Hattori, M.; Hazumi, M.; Hill, C.; Hilton, G.; Holzapfel, W.; Hori, Y.; Hubmayr, J.; Ichiki, K.; Inatani, J.; Inoue, M.; Inoue, Y.; Irie, F.; Irwin, K.; Ishino, H.; Ishitsuka, H.; Jeong, O.; Karatsu, K.; Kashima, S.; Katayama, N.; Kawano, I.; Keating, B.; Kibayashi, A.; Kibe, Y.; Kida, Y.; Kimura, K.; Kimura, N.; Kohri, K.; Komatsu, E.; Kuo, C. L.; Kuromiya, S.; Kusaka, A.; Lee, A.; Linder, E.; Matsuhara, H.; Matsuoka, S.; Matsuura, S.; Mima, S.; Mitsuda, K.; Mizukami, K.; Morii, H.; Morishima, T.; Nagai, M.; Nagasaki, T.; Nagata, R.; Nakajima, M.; Nakamura, S.; Namikawa, T.; Naruse, M.; Natsume, K.; Nishibori, T.; Nishijo, K.; Nishino, H.; Nitta, T.; Noda, A.; Noguchi, T.; Ogawa, H.; Oguri, S.; Ohta, I. S.; Otani, C.; Okada, N.; Okamoto, A.; Okamoto, A.; Okamura, T.; Rebeiz, G.; Richards, P.; Sakai, S.; Sato, N.; Sato, Y.; Segawa, Y.; Sekiguchi, S.; Sekimoto, Y.; Sekine, M.; Seljak, U.; Sherwin, B.; Shinozaki, K.; Shu, S.; Stompor, R.; Sugai, H.; Sugita, H.; Suzuki, T.; Suzuki, A.; Tajima, O.; Takada, S.; Takakura, S.; Takano, K.; Takei, Y.; Tomaru, T.; Tomita, N.; Turin, P.; Utsunomiya, S.; Uzawa, Y.; Wada, T.; Watanabe, H.; Westbrook, B.; Whitehorn, N.; Yamada, Y.; Yamasaki, N.; Yamashita, T.; Yoshida, M.; Yoshida, T.; Yotsumoto, Y.

    2016-08-01

    LiteBIRD is a proposed CMB polarization satellite project to probe the inflationary B-mode signal. The satellite is designed to measure the tensor-to-scalar ratio with a 68 % confidence level uncertainty of σ _r<10^{-3}, including statistical, instrumental systematic, and foreground uncertainties. LiteBIRD will observe the full sky from the second Lagrange point for 3 years. We have a focal plane layout for observing frequency coverage that spans 40-402 GHz to characterize the galactic foregrounds. We have two detector candidates, transition-edge sensor bolometers and microwave kinetic inductance detectors. In both cases, a telecentric focal plane consists of approximately 2× 10^3 superconducting detectors. We will present the mission overview of LiteBIRD, the project status, and the TES focal plane layout.

  13. Bilaterally symmetric focal cortical dysplasia in a golden retriever dog.

    PubMed

    Casey, K M; Bollen, A W; Winger, K M; Vernau, K M; Dickinson, P J; Higgins, R J; Sisó, S

    2014-11-01

    A 10-year-old golden retriever dog was referred with a 24-h history of generalized seizures. Magnetic resonance imaging of the brain found no abnormalities on 3 mm transverse sections and the dog was subsequently humanely destroyed. Microscopically there was bilaterally symmetrical focal disorganization of cortical grey matter within the tips of the right and left suprasylvian gyri of the temporal cortex. The focal abnormal cortical lamination was characterized by loss of pyramidal neurons with abnormal, irregular, angular, remaining neurons occasionally forming clusters, surrounded by fibrillary astrogliosis and microgliosis and vascular proliferation. These histological findings are consistent with focal cortical dysplasia, a cerebral cortical malformation that causes seizures in people, but not reported previously in the dog. PMID:25246180

  14. Focal depth measurement of scanning helium ion microscope

    SciTech Connect

    Guo, Hongxuan; Itoh, Hiroshi; Wang, Chunmei; Zhang, Han; Fujita, Daisuke

    2014-07-14

    When facing the challenges of critical dimension measurement of complicated nanostructures, such as of the three dimension integrated circuit, characterization of the focal depth of microscopes is important. In this Letter, we developed a method for characterizing the focal depth of a scanning helium ion microscope (HIM) by using an atomic force microscope tip characterizer (ATC). The ATC was tilted in a sample chamber at an angle to the scanning plan. Secondary electron images (SEIs) were obtained at different positions of the ATC. The edge resolution of the SEIs shows the nominal diameters of the helium ion beam at different focal levels. With this method, the nominal shapes of the helium ion beams were obtained with different apertures. Our results show that a small aperture is necessary to get a high spatial resolution and high depth of field images with HIM. This work provides a method for characterizing and improving the performance of HIM.

  15. Focal brain atrophy in gastric bypass patients with cognitive complaints.

    PubMed

    Graff-Radford, Jonathan; Whitwell, Jennifer L; Trenerry, Max R; Ahlskog, J Eric; Jensen, Michael D; Jack, Clifford R; Josephs, Keith A

    2011-12-01

    Recently, we have identified a series of patients presenting with cognitive complaints after gastric bypass, without any identifiable etiology. We aimed to determine if focal brain atrophy could account for the complaints. A retrospective case series was performed to identify patients with cognitive complaints following gastric bypass who had a volumetric MRI. Voxel-based morphometry was used to assess patterns of grey matter loss in all 10 patients identified, compared to 10 age and gender-matched controls. All patients had undergone Roux-en-Y gastric bypass surgery at a median age of 54 (range: 46-64). Cognitive complaints developed at a median age of 57 (52-69). Formal neuropsychometric testing revealed only minor deficits. No nutritional abnormalities were identified. Voxel-based morphometry demonstrated focal thalamic atrophy in the gastric bypass patients when compared to controls. Patients with cognitive complaints after gastric bypass surgery may have focal thalamic brain atrophy that could result in cognitive impairment.

  16. Variation of focal switch with spectrum of a broadband laser

    NASA Astrophysics Data System (ADS)

    Zhang, Biyu; Peng, Runwu; Xie, Haiqing; Zhang, Wei

    2016-05-01

    Effects of the spectrum on focal switch of a broadband laser in a dispersion dual-focus system are presented in this paper. The numerical results show that the two maximum intensities of the broadband laser on the z-axis vary when the central frequency of the broadband laser shifts and the spectrum shape changes, and the variations affect the generation of the focal switch. It is also found that difference of the two maximum intensities tends to increase when the absolute value of central wavelength increases. According to the results in this paper, the generation of the focal switch can be controlled by choosing the shift of the central frequency, the bandwidth, the distance between the two lenses, and the spectrum shape of the broadband laser.

  17. The cheating liver: imaging of focal steatosis and fatty sparing.

    PubMed

    Dioguardi Burgio, Marco; Bruno, Onorina; Agnello, Francesco; Torrisi, Chiara; Vernuccio, Federica; Cabibbo, Giuseppe; Soresi, Maurizio; Petta, Salvatore; Calamia, Mauro; Papia, Giovanni; Gambino, Angelo; Ricceri, Viola; Midiri, Massimo; Lagalla, Roberto; Brancatelli, Giuseppe

    2016-06-01

    Focal steatosis and fatty sparing are a frequent finding in liver imaging, and can mimic solid lesions. Liver regional variations in the degree of fat accumulation can be related to vascular anomalies, metabolic disorders, use of certain drugs or coexistence of hepatic masses. CT and MRI are the modalities of choice for the noninvasive diagnosis of hepatic steatosis. Knowledge of CT and MRI appearance of focal steatosis and fatty sparing is crucial for an accurate diagnosis, and to rule-out other pathologic processes. This paper will review the CT and MRI techniques for the diagnosis of hepatic steatosis and the CT and MRI features of common and uncommon causes of focal steatosis and fatty sparing.

  18. Focal therapy in prostate cancer: the current situation

    PubMed Central

    Jácome-Pita, FX; Sánchez-Salas, R; Barret, E; Amaruch, N; Gonzalez-Enguita, C; Cathelineau, X

    2014-01-01

    Prostate cancer is one of the most significant pathologies in the field of urology. The adoption of screening strategies and improvements in biopsies have resulted in an increase in early-stage tumour detection. Radical global therapies provide very good oncological results in localised prostate cancer. However, excess treatment in low- and, in some cases, intermediate-risk groups affects the quality of life of these patients. In the case of localised prostate cancer, focal therapies offer a minimally invasive option with good results with respect to established treatments. Although this is currently not a standard treatment, it represents the therapeutic approach with the greatest potential. This literature review has the following objectives: to define selection criteria for patients who are candidates for focal therapy, to assess the current situation and results of the different therapeutic options, and to define procedures in cases of recurrence and for follow-ups. We concluded that focal therapy is a viable therapeutic alternative for localised prostate cancer, specifically cryosurgery and high-intensity targeted ultrasound, which have acceptable oncologic results and a lower comorbidity compared with global treatments. Studies with a high level of scientific evidence are still needed to validate these results. Acquisition of evidence A search was carried out on the Medline (PubMed), EMBASE, Web of Science and Cochrane databases of all papers published before 31 July 2013. We included clinical studies and literature reviews that evaluated primary focal therapy for prostate cancer confirmed by biopsy and excluded focal rescue therapy studies. The keywords used were focal therapy and prostate cancer. Initially, we found 42 articles; 15 studies were excluded because they did not meet the minimum criteria for inclusion. A total of 1350 cases were treated throughout 27 studies. PMID:24944577

  19. Focal properties of a plane grating in a convergent beam.

    PubMed

    Hall, J T

    1966-06-01

    Focusing from a plane grating can be accomplished by using convergent radiation incident on the grating in such a manner that any incident angle alpha(n), the resulting diffraction angle beta(n), will be on the same side of the grating normal. The theory for the focal properties is developed by applying Fermat's principle of least time to selected terms resulting from a finite series expansion of the system's distance function. Derivations are given for finding the focal curve equation, astigmatism, and coma, of the most usable configuration of the optical components. Discussions of the aberrations disclose methods for eliminating the astigmatism and reducing the coma. PMID:20049009

  20. Focal stent collapse in a patient with systemic sclerosis.

    PubMed

    Di Francesco, L; Finci, L; Reimers, B; Di Mario, C; Colombo, A

    1998-05-01

    We report a patient with systemic sclerosis having implantation of a 35 mm beStent with immediate success but developing angina at follow-up. A focal stent collapse with focal hyperplasia in and outside the stent was documented by ultrasound after 2 mos. A 14mm Palmaz-Schatz stent was successfully deployed into the collapsed beStent, with good 6-mo angiographic result. The stent collapse was probably due to unequal distribution of radial forces and possibly reactive hyperplasia in this unique patient with systemic sclerosis.

  1. Sonic boom focal zones due to tactical aircraft maneuvers

    NASA Astrophysics Data System (ADS)

    Plotkin, Kenneth J.

    1990-10-01

    A study has been conducted of the focal zone 'superbooms' associated with tactical maneuvers of military supersonic aircraft. Focal zone footprints were computed for 21 tactical maneuvers: two for the SR-71 and 19 for fighters engaged in air combat maneuver (ACM) training. These footprints provide quantitative results which may be used for environmental planning. A key finding of this study is that focus factors and footprint areas for high-g fighter maneuvers are substantially smaller than those for gentle maneuvers associated with larger aircraft.

  2. [Two-dimensional echoencephalography in focal brain pathology].

    PubMed

    Shokurov, N N; Likhterman, L B

    1976-01-01

    Two-dimentional echoencephalographic examinations were conducted in 35 patients with focal lesions of the brain of different etiology. Normal tomoechoencephalogramme and ultrasonic semiotics of transverse sections of the brain in different pathology is described with reference to its nature and interrelationships with the meninges and brain matter (tumours, abscesses, emningeal and intracerebral haematomas, hydroma, brain confusion, intracranial foreign bodies). The authors believe that two-dimentional echoencephalography is a promising method of diagnosis, free of contraindications, combinding safety and promptness of the examination. direct visualization of focal pathology of the brain through an intact skull.

  3. The Focal Surface of the JEM-EUSO Telescope

    NASA Technical Reports Server (NTRS)

    Kawasaki, Yoshiya

    2007-01-01

    Extreme Universe Space Observatory onboard JEM/EP (JEM-EUSO) is a space mission to study extremely high-energy cosmic rays. The JEM-EUSO instrument is a wide-angle refractive telescope in near-ultraviolet wavelength region to observe time-resolved atmospheric fluorescence images of the extensive air showers from the International Space Station. The focal surface is a spherical curved surface, and its area amounts to about 4.5 square m. The focal surface detector is covered with about 6,000 multi-anode photomultipliers (MAPMTs). The focal surface detector consists of Photo-Detector-Modules, each of which consists of 9 Elementary Cells (ECs). The EC contains 4 units of the MAPMTs. Therefore, about 1,500 ECs or about 160 PDMS are arranged on the whole of the focal surface of JEM- EUSO. The EC is a basic unit of the front-end electronics. The PDM is a, basic unit of the data acquisition system

  4. Unilateral asterixis: motor integrative dysfunction in focal vascular disease.

    PubMed

    Massey, E W; Goodman, J C; Stewart, C; Brannon, W L

    1979-08-01

    In three patients we found unilateral asterixis in limbs contralateral to a discrete lesion adjacent to the internal capsule. Etiology was vascular in each, with no metabolic or toxic disturbance. Unilateral asterixis bespeaks focal disease arising from lesions in the thalamus or internal capsule and is a sign of motor integrative dysfunction.

  5. Ischemia independent lesion evolution during focal stroke in rats.

    PubMed

    Woitzik, Johannes; Lassel, Elke; Hecht, Nils; Schneider, Ulf C; Schroeck, Helmut; Vajkoczy, Peter; Graf, Rudolf

    2009-07-01

    Lesion evolution during focal cerebral ischemia may depend on flow restrictions or on accumulation of toxic mediators within the infarct and expansion of these factors to the periinfarct region. So far, the precise contribution of flow dependent versus spreading-mediated impairment of viable periinfarct tissue has not been determined. Therefore, we measured lesion expansion, flow restrictions and glutamate distribution on serial brain sections at different time points after experimental focal ischemia. Permanent focal ischemia was induced by occlusion of the right middle cerebral artery in male rats and the flow reduction was subsequently measured at 1, 12 and 24 h using iodo[14C]antipyrine autoradiography. Additionally, the necrotic volume was determined on serial brain sections and the glutamate content was measured in tissue samples from adjacent microdissections. Twelve hours after focal ischemia no noteworthy viable areas with blood flow restrictions of 20-40 ml 100 g(-1) min(-1) existed but at 24 h the necrotic tissue exceeded the hemodynamically compromised region by 40 +/- 21 mm3 (24%). Furthermore, at 12 and 24 h the glutamate content was elevated in areas surrounding the infarct. Relevant flow restrictions are detectable only during early stages of infarct maturation, whereas the propagation of secondary factors may be the predominant mechanism for delayed infarct evolution.

  6. Spectrum of PORCN mutations in Focal Dermal Hypoplasia

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Focal Dermal Hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation, and herniation of fat through dermal defects); papillomas...

  7. Karyomegalic interstitial nephritis with focal segmental glomerulosclerosis: A rare association.

    PubMed

    Radha, S; Tameem, A; Rao, B S

    2014-03-01

    Karyomegalic interstitial nephritis (KIN) is a rare form of, progressive chronic interstitial nephritis. We present a case of KIN in a child, who was also found to have nephrotic syndrome because of focal segmental glomerulosclerosis on renal biopsy. To our knowledge, this is the first case of KIN associated with glomerulopathy.

  8. Karyomegalic interstitial nephritis with focal segmental glomerulosclerosis: A rare association

    PubMed Central

    Radha, S.; Tameem, A.; Rao, B. S.

    2014-01-01

    Karyomegalic interstitial nephritis (KIN) is a rare form of, progressive chronic interstitial nephritis. We present a case of KIN in a child, who was also found to have nephrotic syndrome because of focal segmental glomerulosclerosis on renal biopsy. To our knowledge, this is the first case of KIN associated with glomerulopathy. PMID:24701046

  9. Focal cone ERGs of rhodopsin Pro347Leu transgenic rabbits.

    PubMed

    Ueno, Shinji; Koyasu, Toshiyuki; Kominami, Taro; Sakai, Takao; Kondo, Mineo; Yasuda, Shunsuke; Terasaki, Hiroko

    2013-10-18

    A rhodopsin P347L transgenic (Tg) rabbit, a model of retinitis pigmentosa, has been generated in our laboratory. The purpose of this study was to determine the properties of focal areas of the retina in this rabbit model during the course of retinal degeneration. To accomplish this, we recorded focal ERGs from wild-type (WT) and Tg rabbits at ages 3, 6, and 12 months. A 15° stimulus spot was used to elicit the focal ERGs from the center of the visual streak and from four surrounding areas. We found that the amplitudes of the focal cone ERG b-waves and oscillatory potentials (OPs) of the Tg rabbits in the five areas decreased progressively with increasing age and became almost non-recordable at 12 months. There were no significant regional differences in the b-waves of Tg rabbits recorded from the 5 areas. The amplitudes of the OPs were better preserved than the b-waves and the OPs/b-wave ratio was higher than that in WT rabbits at every recording area. The summed OPs amplitudes, which most likely originate from the amacrine and/or ganglion cells, recorded from the area superior to the optic disc was significantly larger than that from other areas at 3- and 6-months-old. This indicated that the inner retinal neurons were not altered equally after photoreceptor degeneration in this rabbit model.

  10. Oral focal epithelial hyperplasia removed with CO2 laser.

    PubMed

    Luomanen, M

    1990-08-01

    A case of oral focal epithelial hyperplasia (FEH) treated with CO2 laser surgery is presented. Histological diagnosis is discussed. The association of human papillomavirus (HPV) type 32 with the lesions is demonstrated with DNA in situ hybridization technique. Laser surgery is suggested as a treatment of choice.

  11. Focal epithelial hyperplasia (Heck disease) associated with AIDS.

    PubMed

    Viraben, R; Aquilina, C; Brousset, P; Bazex, J

    1996-01-01

    Focal epithelial hyperplasia (FEH) of the oral mucosa occurring in a HIV-infected man is described. Molecular biology disclosed an HPV-32 type in oral lesions. The association of FEH and AIDS is uncommon although many HPV subtypes may manifest during HIV infection.

  12. Infrared lens thermal effect: equivalent focal shift and calculating model

    NASA Astrophysics Data System (ADS)

    Zhang, Cheng-shuo; Shi, Zelin; Feng, Bin; Xu, Bao-shu

    2014-11-01

    It's well-know that the focal shift of infrared lens is the major factor in degeneration of imaging quality when temperature change. In order to figure out the connection between temperature change and focal shift, partial differential equations of thermal effect on light path are obtained by raytrace method, to begin with. The approximately solution of the PDEs show that focal shift is proportional to temperature change. And a formula to compute the proportional factor is given. In order to understand infrared lens thermal effect deeply, we use defocus by image plane shift at constant temperature to equivalently represent thermal effect on infrared lens. So equivalent focal shift (EFS) is defined and its calculating model is proposed at last. In order to verify EFS and its calculating model, Physical experimental platform including a motorized linear stage with built-in controller, blackbody, target, collimator, IR detector, computer and other devices is developed. The experimental results indicate that EFS make the image plane shift at constant temperature have the same influence on infrared lens as thermal effect and its calculating model is correct.

  13. Analysis of Rapid Multi-Focal Zone ARFI Imaging

    PubMed Central

    Rosenzweig, Stephen; Palmeri, Mark; Nightingale, Kathryn

    2015-01-01

    Acoustic radiation force impulse (ARFI) imaging has shown promise for visualizing structure and pathology within multiple organs; however, because the contrast depends on the push beam excitation width, image quality suffers outside of the region of excitation. Multi-focal zone ARFI imaging has previously been used to extend the region of excitation (ROE), but the increased acquisition duration and acoustic exposure have limited its utility. Supersonic shear wave imaging has previously demonstrated that through technological improvements in ultrasound scanners and power supplies, it is possible to rapidly push at multiple locations prior to tracking displacements, facilitating extended depth of field shear wave sources. Similarly, ARFI imaging can utilize these same radiation force excitations to achieve tight pushing beams with a large depth of field. Finite element method simulations and experimental data are presented demonstrating that single- and rapid multi-focal zone ARFI have comparable image quality (less than 20% loss in contrast), but the multi-focal zone approach has an extended axial region of excitation. Additionally, as compared to single push sequences, the rapid multi-focal zone acquisitions improve the contrast to noise ratio by up to 40% in an example 4 mm diameter lesion. PMID:25643078

  14. Stromal myofibroblasts in focal reactive overgrowths of the gingiva.

    PubMed

    Damasceno, Leonardo Silveira; Gonçalves, Fernanda da Silva; Costa e Silva, Edson; Zenóbio, Elton Gonçalves; Souza, Paulo Eduardo Alencar; Horta, Martinho Campolina Rebello

    2012-01-01

    Focal reactive overgrowths are among the most common oral mucosal lesions. The gingiva is a significant site affected by these lesions, when triggered by chronic inflammation in response to microorganisms in dental plaque. Myofibroblasts are differentiated fibroblasts that actively participate in diseases characterized by tissue fibrosis. The objective of this study was to evaluate the presence of stromal myofibroblasts in the main focal reactive overgrowths of the gingiva: focal fibrous hyperplasia (FFH), peripheral ossifying fibroma (POF), pyogenic granuloma (PG), and peripheral giant cell granuloma (PGCG). A total of 10 FFHs, 10 POFs, 10 PGs, and 10 PGCGs from archival specimens were evaluated. Samples of gingival mucosa were used as negative controls for stromal myofibroblasts. Oral squamous cell carcinoma samples, in which stromal myofibroblasts have been previously detected, were used as positive controls. Myofibroblasts were identified by immunohistochemical detection of alpha smooth muscle actin (α-sma). Myofibroblast immunostaining was qualitatively classified as negative, scanty, or dense. Differences in the presence of myofibroblasts among FFH, POF, PG, and PGCG were analyzed using the Kruskal-Wallis test. Stromal myofibroblasts were not detected in FFH, POF, PG, or PGCG. Consequently, no differences were observed in the presence of myofibroblasts among FFH, POF, PG, or PGCG (p > 0.05). In conclusion, stromal myofibroblasts were not detected in the focal reactive overgrowths of the gingiva that were evaluated, suggesting that these cells do not play a significant role in their pathogenesis.

  15. Extra focal convective suppressing solar collector. Final technical progress report

    SciTech Connect

    1996-05-01

    This progress report describes work done on the Extra Focal Convective Suppressing Solar Collector. The topics of the report include sensor refinement for the tracking electronics, tracking controller refinement, system optics evaluation, absorber system material evaluation and performance, tracking hardware evaluation and refinement, and full scale prototype construction and testing.

  16. The challenge of diagnosing focal hand dystonia in musicians

    PubMed Central

    Rosset-Llobet, J.; Candia, V.; Molas, S. Fàbregas i; Dolors Rosinés i Cubells, D.; Pascual-Leone, A.

    2012-01-01

    Background and purpose To most clinicians, medical problems in musicians, particularly those concerning focal hand dystonia, constitute an unfamiliar domain difficult to manage. The latter can importantly influence diagnostics and the course of treatment. The purpose of this study was to enlighten the issue and to identify possible problems in diagnosing musicians’ cramp within the Spanish medical community. Methods We used a brief questions’ catalog and clinical histories of 665 musicians seen at our clinic for performing artists. We analyzed patients’ diagnosis records in 87 cases of focal hand dystonia (13.1%). In so doing, we surveyed previous diagnoses and diverse treatments prescriptions prior to referral to our clinic. Results Referrals came primarily from orthopaedists and neurologists. The 52.9% arrived at our clinic without a diagnosis or a suspicion of suffering from focal dystonia. The most frequently attempted diagnoses other than musicians’ dystonia included nerve compression, tendonitis and trigger fingers. Commonly prescribed treatments included rest, various surgical procedures, physiotherapy and oral anti-inflammatory medication. Conclusions This data depicts the diagnostic challenges of medical professionals may encounter when confronted with musician’s focal dystonia. PMID:19473363

  17. Quantum-Well Infrared Photodetector (QWIP) Focal Plane Assembly

    NASA Technical Reports Server (NTRS)

    Jhabvala, Murzy; Jhabvala, Christine A.; Ewin, Audrey J.; Hess, Larry A.; Hartmann, Thomas M.; La, Anh T.

    2012-01-01

    A paper describes the Thermal Infrared Sensor (TIRS), a QWIP-based instrument intended to supplement the Operational Land Imager (OLI) for the Landsat Data Continuity Mission (LDCM). The TIRS instrument is a far-infrared imager operating in the pushbroom mode with two IR channels: 10.8 and 12 microns. The focal plane will contain three 640x512 QWIP arrays mounted on a silicon substrate. The silicon substrate is a custom-fabricated carrier board with a single layer of aluminum interconnects. The general fabrication process starts with a 4-in. (approx.10-cm) diameter silicon wafer. The wafer is oxidized, a single substrate contact is etched, and aluminum is deposited, patterned, and alloyed. This technology development is aimed at incorporating three large-format infrared detecting arrays based on GaAs QWIP technology onto a common focal plane with precision alignment of all three arrays. This focal plane must survive the rigors of flight qualification and operate at a temperature of 43 K (-230 C) for five years while orbiting the Earth. The challenges presented include ensuring thermal compatibility among all the components, designing and building a compact, somewhat modular system and ensuring alignment to very tight levels. The multi-array focal plane integrated onto a single silicon substrate is a new application of both QWIP array development and silicon wafer scale integration. The Invar-based assembly has been tested to ensure thermal reliability.

  18. Dosimetry Modeling for Focal Low-Dose-Rate Prostate Brachytherapy

    SciTech Connect

    Al-Qaisieh, Bashar; Mason, Josh; Bownes, Peter; Henry, Ann; Dickinson, Louise; Ahmed, Hashim U.; Emberton, Mark; Langley, Stephen

    2015-07-15

    Purpose: Focal brachytherapy targeted to an individual lesion(s) within the prostate may reduce side effects experienced with whole-gland brachytherapy. The outcomes of a consensus meeting on focal prostate brachytherapy were used to investigate optimal dosimetry of focal low-dose-rate (LDR) prostate brachytherapy targeted using multiparametric magnetic resonance imaging (mp-MRI) and transperineal template prostate mapping (TPM) biopsy, including the effects of random and systematic seed displacements and interseed attenuation (ISA). Methods and Materials: Nine patients were selected according to clinical characteristics and concordance of TPM and mp-MRI. Retrospectively, 3 treatment plans were analyzed for each case: whole-gland (WG), hemi-gland (hemi), and ultra-focal (UF) plans, with 145-Gy prescription dose and identical dose constraints for each plan. Plan robustness to seed displacement and ISA were assessed using Monte Carlo simulations. Results: WG plans used a mean 28 needles and 81 seeds, hemi plans used 17 needles and 56 seeds, and UF plans used 12 needles and 25 seeds. Mean D90 (minimum dose received by 90% of the target) and V100 (percentage of the target that receives 100% dose) values were 181.3 Gy and 99.8% for the prostate in WG plans, 195.7 Gy and 97.8% for the hemi-prostate in hemi plans, and 218.3 Gy and 99.8% for the focal target in UF plans. Mean urethra D10 was 205.9 Gy, 191.4 Gy, and 92.4 Gy in WG, hemi, and UF plans, respectively. Mean rectum D2 cm{sup 3} was 107.5 Gy, 77.0 Gy, and 42.7 Gy in WG, hemi, and UF plans, respectively. Focal plans were more sensitive to seed displacement errors: random shifts with a standard deviation of 4 mm reduced mean target D90 by 14.0%, 20.5%, and 32.0% for WG, hemi, and UF plans, respectively. ISA has a similar impact on dose-volume histogram parameters for all plan types. Conclusions: Treatment planning for focal LDR brachytherapy is feasible. Dose constraints are easily met with a notable

  19. Multispectral Focal Plane Assembly for Satellite Remote Sensing

    SciTech Connect

    Rienstra, J.; Ballard, M.

    1997-12-31

    Sandia National Laboratories and several subsystem contractors are developing technologies applicable to multispectral remote sensing from space. A proof of concept multispectral sensor system is under development. The objective of building this sensor is to demonstrate and evaluate multispectral imaging technologies for various applications. The three major subsystems making up the sensor are the focal plane assembly (FPA), the cryocooler, and the telescope. This paper covers the focal plane assembly, which is the basis of the sensor system. The focal plane assembly includes sensor chip assemblies, optical filters, and a vacuum enclosure with cold shielding. Linear detector arrays provide spatial resolution in the cross-track direction for a pushbroom imager configuration. The optical filters define 15 spectral bands in a range from 0.45 microns to 10.7 microns. All the detector arrays are mounted on a single focal plane and are designed to operate at 75 K. No beam splitters are used. The four spectral bands covering the visible to near infrared have roughly 2400 pixels each, and the remaining 11 spectral bands have roughly 600 pixels each. The average total rate of multispectral data from the FPA is approximately 15.4 megapixels per second. At the time this paper is being written, the multispectral focal plane assembly is in the fabrication phase. A thermal/mechanical mockup has been built and tested for the vibration environment and to determine the thermal load. Some of the sensor chip assemblies and filters have been built and tested. Several notable features of the design are covered in the paper as well as preliminary test data.

  20. Focal Ablation of Prostate Cancer: Four Roles for MRI Guidance

    PubMed Central

    Sommer, Graham; Bouley, Donna; Gill, Harcharan; Daniel, Bruce; Pauly, Kim Butts; Diederich, Christopher

    2014-01-01

    Introduction There is currently a great deal of interest in the possible use of focal therapies for prostate cancer, since such treatments offer the prospect for control or cure of the primary disease with minimal side effects. Many forms of thermal therapy have been proposed for focal ablation of prostate cancer, including laser, high intensity ultrasound and cryotherapy. This review will demonstrate the important roles that MRI guidance can offer to such focal ablation, focusing on the use of high intensity ultrasonic applicators as an example of one promising technique. Materials and Methods Transurethral and interstitial high intensity ultrasonic applicators, designed specifically for ablation of prostate tissue were tested extensively in vivo in a canine model. The roles of MRI in positioning the devices, monitoring prostate ablation, and depicting ablated tissue were assessed using appropriate MRI sequences. Results MRI guidance provides a very effective tool for the positioning of ablative devices in the prostate, and thermal monitoring successfully predicted ablation of prostate tissue when a threshold of 52°C was achieved. Contrast enhanced MRI accurately depicted the distribution of ablated prostate tissue, which is resorbed at 30 days. Conclusions Guidance of thermal therapies for focal ablation of prostate cancer will likely prove critically dependent on MRI functioning in four separate roles. Our studies indicate that in 3 roles: device positioning; thermal monitoring of prostate ablation; and depiction of ablated prostate tissue, MR techniques are highly accurate and likely to be of great benefit in focal prostate cancer ablation. A fourth critical role, identification of cancer within the gland for targeting of thermal therapy, is more problematic at present, but will likely become practical with further technological advances. PMID:23587506

  1. Alignment techniques required by precise measurement of effective focal length

    NASA Astrophysics Data System (ADS)

    Wise, T. D.

    1980-01-01

    The characteristics of false color imagery produced by instrumentation on earth resource mapping satellites are examined. The spatial fidelity of the imagery is dependent upon the geometric accuracy (GA) and the band-to-band registration (BBR) with which the telescope instrument is assembled. BBR and GA require knowledge of telescope effective focal length (EFL) to one part in 10,000 in order that the next generation of earth mappers be able to carry out their missions. The basis for this level of precision is briefly considered, and a description is given of the means by which such precise EFL measurements have been carried out. Attention is given to accuracy requirements, the technique used to measure effective focal length, possible sources of error in the EFL measurement, approaches for eliminating errors, and the results of the efforts to control measurement errors in EFL determinations.

  2. Oral focal mucinosis: a rare case report of two cases.

    PubMed

    Ena, Sharma; Nadellamanjari; Chatterjeeanirban; Ramesh, Alampalli

    2013-07-01

    Oral focal mucinosis (OFM) is a rare soft tissue lesion of unknown etiology. Clinically, it is most commonly found on the gingiva and presents as a painless, sessile or pedunculated mass of the same colour as the surrounding mucosa. Histologically, it is characterized by focal myxoid degeneration of connective tissue. OFM occurs predominantly in adults during the fourth and fifth decade of life, although it has been reported infrequently in children and adolescents. Its diagnosis mainly relies on histological analysis and the treatment involves complete surgical excision. Its recurrence is unreported. The aim of this report of two cases is to describe the clinical and histological presentation and subsequent management of OFM. The cause of OFM remains unknown. The cases presented in this report bring OFM to the attention of anatomical pathologists while considering the differential diagnosis of myxoid lesions of the oral cavity.

  3. Focal Plane Phase Masks for PIAA: Design and Manufacturing

    NASA Astrophysics Data System (ADS)

    Newman, K.; Conway, J.; Belikov, R.; Guyon, O.

    2016-05-01

    The Phase Induced Amplitude Apodization Complex Mask Coronagraph (PIAACMC) is a coronagraph architecture for the direct detection of extrasolar planets, which can achieve close to the theoretical performance limit of any direct detection system. The primary components of a PIAACMC system are the Phase Induced Amplitude Apodization (PIAA) optics and the complex phase-shifting focal plane mask. PIAA optics have been produced and demonstrated with high coronagraph performance. In this paper, we describe the design process for the phase-shifting focal plane mask, and strategies for smoothing the mask profile. We describe the mask manufacturing process and show manufacturing results. Errors in the fabricated mask profile degrade the system performance, but we can recover performance by refining the manufacturing process and implementing wavefront control.

  4. How electrodiagnosis predicts clinical outcome of focal peripheral nerve lesions.

    PubMed

    Robinson, Lawrence R

    2015-09-01

    This article reviews the electrodiagnostic (EDX) prognostic factors for focal traumatic and nontraumatic peripheral nerve injuries. Referring physicians and patients often benefit from general and nerve-specific prognostic information from the EDX consultant. Knowing the probable outcome from a nerve injury allows the referring physician to choose the best treatment options for his/her patients. Nerve injuries are variable in their mechanism, location, and pathophysiology. The general effects of the injuries on nerve and muscle are well known, but more research is needed for nerve-specific information. Several factors currently known to influence prognosis include: nature of the nerve trauma, amount of axon loss, recruitment in muscles supplied by the nerve, the extent of demyelination, and the distance to reinnervate functional muscles. This article reviews these general concepts and also nerve-specific EDX measures that predict outcome after focal neuropathies.

  5. Focal neuromyotonia as a presenting feature of lumbosacral radiculopathy

    PubMed Central

    Raut, Tushar Premraj; Garg, Ravindra Kumar; Chaudhari, Tejendra Singh; Malhotra, Hardeep Singh; Singh, Maneesh Kumar

    2013-01-01

    Neuromyotonia is characterized by motor, sensory, and autonomic features along with characteristic electrophysiologic findings, resulting from hyperexcitability of the peripheral nerves. We describe the case of a 36-year-old man, who presented with the disabling symptoms suggestive of focal neuromyotonia involving both the lower limbs. His neurological examination revealed continuous rippling of both the calf muscles with normal power, reflexes, and sensory examination. Electrophysiology revealed spontaneous activity in the form of doublets, triplets, and neuromyotonic discharges along with the neurogenic motor unit potentials in bilateral L5, S1 innervated muscles. Magnetic resonance imaging lumbosacral spine revealed lumbar intervertebral disc protrusion with severe foraminal and spinal canal stenosis. Patient had good response to steroids and carbamazepine. The disabling focal neuromyotonia, occurring as a result of chronic active radiculopathy, brought the patient to medical attention. Patient responded to medical management. PMID:24339612

  6. Focal epithelial hyperplasia (Heck's disease) in two Chinese females.

    PubMed

    Liu, N; Li, Y; Zhou, Y; Zeng, X

    2012-08-01

    Focal epithelial hyperplasia, or Heck's disease, is a relatively rare virus-induced benign disease. To the best of the authors' knowledge it has not been reported in an ethnic Chinese population. The authors report two cases of focal epithelial hyperplasia (FEH) in Chinese patients, which were clinically and histologically in accord with FEH. In particular, the lesions in one case were located on the gingival mucosa, which is rarely affected by FEH. DNA extracted from paraffin-embedded specimens from the two patients was tested for the presence of human papilloma virus followed by specific polymerase chain reaction testing for 16, 18, 13, and 32 subtypes in order to confirm the clinical diagnosis.

  7. Uncooled infrared focal plane array imaging in China

    NASA Astrophysics Data System (ADS)

    Lei, Shuyu

    2015-06-01

    This article reviews the development of uncooled infrared focal plane array (UIFPA) imaging in China in the past decade. Sensors based on optical or electrical read-out mechanism were developed but the latter dominates the market. In resistive bolometers, VOx and amorphous silicon are still the two major thermal-sensing materials. The specifications of the IRFPA made by different manufactures were collected and compared. Currently more than five Chinese companies and institutions design and fabricate uncooled infrared focal plane array. Some devices have sensitivity as high as 30 mK; the largest array for commercial products is 640×512 and the smallest pixel size is 17 μm. Emphasis is given on the pixel MEMS design, ROIC design, fabrication, and packaging of the IRFPA manufactured by GWIC, especially on design for high sensitivities, low noise, better uniformity and linearity, better stabilization for whole working temperature range, full-digital design, etc.

  8. Design and alignment of the MIPAS focal plane system

    NASA Astrophysics Data System (ADS)

    Smorenburg, C.; Visser, Huib; Moddemeijer, K.

    1996-08-01

    The Michelson Interferometer for Passive Atmospheric Sounding (MIPAS) is selected by ESA for the ENVISAT-mission, scheduled for launch in 1999. The instrument will measure the concentration of atmospheric trace gases in the earth atmosphere in a spectral region from 4.15 - 14.6 micrometers . MIPAS consists of scan mirrors, a telescope, a Michelson Interferometer, an optical reducer and a focal plane assembly. The optical reducer consists of a 2 concave and 1 convex mirror system. The focal plane assembly consists of a configuration of mirrors and dichroics, with which the spectral range is divided in 4 spectral bands. TNO Institute of Applied Physics has designed the optical/mechanical system and after manufacturing of the components has aligned the system with high accuracy. The design and alignment of this system is described.

  9. Optofluidic lens with tunable focal length and asphericity

    PubMed Central

    Mishra, Kartikeya; Murade, Chandrashekhar; Carreel, Bruno; Roghair, Ivo; Oh, Jung Min; Manukyan, Gor; van den Ende, Dirk; Mugele, Frieder

    2014-01-01

    Adaptive micro-lenses enable the design of very compact optical systems with tunable imaging properties. Conventional adaptive micro-lenses suffer from substantial spherical aberration that compromises the optical performance of the system. Here, we introduce a novel concept of liquid micro-lenses with superior imaging performance that allows for simultaneous and independent tuning of both focal length and asphericity. This is achieved by varying both hydrostatic pressures and electric fields to control the shape of the refracting interface between an electrically conductive lens fluid and a non-conductive ambient fluid. Continuous variation from spherical interfaces at zero electric field to hyperbolic ones with variable ellipticity for finite fields gives access to lenses with positive, zero, and negative spherical aberration (while the focal length can be tuned via the hydrostatic pressure). PMID:25224851

  10. Design of a variable-focal-length optical system

    NASA Technical Reports Server (NTRS)

    Ricks, D.; Shannon, R. R.

    1984-01-01

    Requirements to place an entire optical system with a variable focal length ranging from 20 to 200 cm within a overall length somewhat less than 100 cm placed severe restrictions on the design of a zoom lens suitable for use on a comet explorer. The requirements of a wavelength range of 0.4 to 1.0 microns produced even greater limitations on the possibilities for a design that included a catadioptric (using mirrors and glass) front and followed by a zooming refractive portion. Capabilities available commercial zoom lenses as well as patents of optical systems are reviewed. Preliminary designs of the refractive optics zoom lens and the catadioptric system are presented and evaluated. Of the two, the latter probably has the best chance of success, so long as the shortest focal lengths are not really needed.

  11. Image-guided focal therapy for prostate cancer

    PubMed Central

    Sankineni, Sandeep; Wood, Bradford J.; Rais-Bahrami, Soroush; Diaz, Annerleim Walton; Hoang, Anthony N.; Pinto, Peter A.; Choyke, Peter L.; Türkbey, Barış

    2014-01-01

    The adoption of routine prostate specific antigen screening has led to the discovery of many small and low-grade prostate cancers which have a low probability of causing mortality. These cancers, however, are often treated with radical therapies resulting in long-term side effects. There has been increasing interest in minimally invasive focal therapies to treat these tumors. While imaging modalities have improved rapidly over the past decade, similar advances in image-guided therapy are now starting to emerge—potentially achieving equivalent oncologic efficacy while avoiding the side effects of conventional radical surgery. The purpose of this article is to review the existing literature regarding the basis of various focal therapy techniques such as cryotherapy, microwave, laser, and high intensity focused ultrasound, and to discuss the results of recent clinical trials that demonstrate early outcomes in patients with prostate cancer. PMID:25205025

  12. Shallow gas cloud illumination analysis by the focal beam method

    NASA Astrophysics Data System (ADS)

    Latiff, Abdul Halim Abdul

    2016-02-01

    This research will address the illumination issue of seismic data below a shallow gas cloud, also known as shallow gas accumulation. In general, poor and distorted seismic data underneath gas zones depend on four major factors; namely the velocity of the gas zones, the depth of the target reflector, the location of the source and the receiver during seismic acquisition, and the frequency of the seismic signals. These factors will be scrutinized in detail by using the focal beam method. The focal beam method incorporates the double focusing concept in order to obtain two important attributes for illumination analysis: (i) Resolution function beam, (ii) amplitude versus ray parameter (AVP) imprint, which is obtained by transforming the modelled data into the radon domain. Both illumination attributes are then applied to a gas-affected field in the Malaysia Basin. The results show well-defined illumination beneath the shallow anomalies and provide a better representation of the subsurface.

  13. Focal nodular hyperplasia with major sinusoidal dilatation: a misleading entity

    PubMed Central

    Laumonier, Hervé; Frulio, Nora; Laurent, Christophe; Balabaud, Charles; Zucman-Rossi, Jessica; Bioulac-Sage, Paulette

    2010-01-01

    Focal nodular hyperplasia (FNH) is a benign liver lesion thought to be a non-specific response to locally increased blood flow. Although the diagnosis of FNH and hepatocellular adenoma (HCA) has made great progress over the last few years using modern imaging techniques, there are still in daily practice some difficulties concerning some atypical nodules. Here, the authors report the case of a 47-year-old woman with a single liver lesion thought to be, by imaging, an inflammatory HCA with major sinusoidal congestion. This nodule was revealed to be, at the microscopical level and after specific immunostaining and molecular analysis, an FNH with sinusoidal dilatation (so-called telangiectatic focal nodular hyperplasia). PMID:22798311

  14. Simultaneous imaging of multiple focal planes using a two-photon scanning microscope

    NASA Astrophysics Data System (ADS)

    Amir, W.; Carriles, R.; Hoover, E. E.; Planchon, T. A.; Durfee, C. G.; Squier, J. A.

    2007-06-01

    Despite all the advances in nonlinear microscopy, all existing instruments are constrained to obtain images of one focal plane at a time. In this Letter we demonstrate a two-photon absorption fluorescence scanning microscope capable of imaging two focal planes simultaneously. This is accomplished by temporally demultiplexing the signal coming from two focal volumes at different sample depths. The scheme can be extended to three or more focal planes.

  15. Design study of the accessible focal plane telescope for shuttle

    NASA Technical Reports Server (NTRS)

    1976-01-01

    The design and cost analysis of an accessible focal plane telescope for Spacelab is presented in blueprints, tables, and graphs. Topics covered include the telescope tube, the telescope mounting, the airlock plus Spacelab module aft plate, the instrument adapter, and the instrument package. The system allows access to the image plane with instrumentation that can be operated by a scientist in a shirt sleeve environment inside a Spacelab module.

  16. Stress tensor and focal mechanisms in the Dead Sea basin

    NASA Astrophysics Data System (ADS)

    Hofstetter, A.; Dorbath, C.; Dorbath, L.; Braeuer, B.; Weber, M.

    2016-04-01

    We use the recorded seismicity, confined to the Dead Sea basin and its boundaries, by the Dead Sea Integrated Research (DESIRE) portable seismic network and the Israel and Jordan permanent seismic networks for studying the mechanisms of earthquakes in the Dead Sea basin. The observed seismicity in the Dead Sea basin is divided into nine regions according to the spatial distribution of the earthquakes and the known tectonic features. The large number of recording stations and the adequate station distribution allowed the reliable determinations of 494 earthquake focal mechanisms. For each region, based on the inversion of the observed polarities of the earthquakes, we determine the focal mechanisms and the associated stress tensor. For 159 earthquakes, out of the 494 focal mechanisms, we could determine compatible fault planes. On the eastern side, the focal mechanisms are mainly strike-slip mechanism with nodal planes in the N-S and E-W directions. The azimuths of the stress axes are well constrained presenting minimal variability in the inversion of the data, which is in agreement with the Eastern Boundary fault on the east side of the Dead Sea basin and what we had expected from the regional geodynamics. However, larger variabilities of the azimuthal and dip angles are observed on the western side of the basin. Due to the wider range of azimuths of the fault planes, we observe the switching of σ1 and σ2 or the switching of σ2 and σ3 as major horizontal stress directions. This observed switching of stress axes allows having dip-slip and normal mechanisms in a region that is dominated by strike-slip motion.

  17. X-ray focal spot locating apparatus and method

    DOEpatents

    Gilbert, Hubert W.

    1985-07-30

    An X-ray beam finder for locating a focal spot of an X-ray tube includes a mass of X-ray opaque material having first and second axially-aligned, parallel-opposed faces connected by a plurality of substantially identical parallel holes perpendicular to the faces and a film holder for holding X-ray sensitive film tightly against one face while the other face is placed in contact with the window of an X-ray head.

  18. Focal adhesion kinase is involved in mechanosensing during fibroblast migration

    NASA Technical Reports Server (NTRS)

    Wang, H. B.; Dembo, M.; Hanks, S. K.; Wang, Y.

    2001-01-01

    Focal adhesion kinase (FAK) is a non-receptor protein tyrosine kinase localized at focal adhesions and is believed to mediate adhesion-stimulated effects. Although ablation of FAK impairs cell movement, it is not clear whether FAK might be involved in the guidance of cell migration, a role consistent with its putative regulatory function. We have transfected FAK-null fibroblasts with FAK gene under the control of the tetracycline repression system. Cells were cultured on flexible polyacrylamide substrates for the detection of traction forces and the application of mechanical stimulation. Compared with control cells expressing wild-type FAK, FAK-null cells showed a decrease in migration speed and directional persistence. In addition, whereas FAK-expressing cells responded to exerted forces by reorienting their movements and forming prominent focal adhesions, FAK-null cells failed to show such responses. Furthermore, FAK-null cells showed impaired responses to decreases in substrate flexibility, which causes control cells to generate weaker traction forces and migrate away from soft substrates. Cells expressing Y397F FAK, which cannot be phosphorylated at a key tyrosine site, showed similar defects in migration pattern and force-induced reorientation as did FAK-null cells. However, other aspects of F397-FAK cells, including the responses to substrate flexibility and the amplification of focal adhesions upon mechanical stimulation, were similar to that of control cells. Our results suggest that FAK plays an important role in the response of migrating cells to mechanical input. In addition, phosphorylation at Tyr-397 is required for some, but not all, of the functions of FAK in cell migration.

  19. Eyespot development on butterfly wings: the focal signal.

    PubMed

    French, V; Brakefield, P M

    1995-03-01

    The eyespot colour pattern on butterfly wings is specified in the early pupal epidermis by signals from a central "focus." In Bicyclus anynana we show that a small square of focal epidermis, grafted to a range of distal wing sites, induces eyespot formation in surrounding host tissue. Signaling is limited to the focus, and even an adjacent (parafocal) graft does not maintain its normal fate (of contributing to the eyespot) and does not influence its surroundings. Along the wing, there is an abrupt change in the epidermis, as a focus grafted to a proximal site provokes no host response. The results of several grafting experiments demonstrate that their different response properties are autonomous to small areas of the distal and proximal epidermis and that the nonresponding proximal tissue can nonetheless transmit the focal sign. The Bicyclus dorsal forewing has a small anterior and a large posterior eyespot, and we show that this results mainly from a difference in focal signals, not in the epidermal response. A grafted posterior focus induces a large eyespot, whereas an anterior focus induces a small eyespot. Furthermore, the anterior and posterior eyespots differ in proportions, and this difference also depends on the identity of the focus, not on the responding epidermis. Eyespots are specified over many cell diameters from the focus by a mechanism which could consist of one long-range signal, such as a morphogen gradient or of a cascade of short-range interactions initiated by the focus. Focal control of the difference in size and proportion between the anterior and posterior eyespot is more readily compatible with a gradient mechanism. Neither model, however, readily explains why the pattern induced by a grafted focus is smaller, but its peripheral gold annulus is broader than in the corresponding control eyespot. Also, there is no direct evidence for long-range gradients, in the butterfly wing or any other insect epithelium. PMID:7883067

  20. Precise annealing of focal plane arrays for optical detection

    SciTech Connect

    Bender, Daniel A.

    2015-09-22

    Precise annealing of identified defective regions of a Focal Plane Array ("FPA") (e.g., exclusive of non-defective regions of the FPA) facilitates removal of defects from an FPA that has been hybridized and/or packaged with readout electronics. Radiation is optionally applied under operating conditions, such as under cryogenic temperatures, such that performance of an FPA can be evaluated before, during, and after annealing without requiring thermal cycling.

  1. Focal mechanisms of recent earthquakes in the Southern Korean Peninsula

    NASA Astrophysics Data System (ADS)

    Park, Jong-Chan; Kim, Woohan; Chung, Tae Woong; Baag, Chang-Eob; Ree, Jin-Han

    2007-06-01

    We evaluate the stress field in and around the southern Korean Peninsula with focal mechanism solutions, using the data collected from 71 earthquakes (ML = 1.9-5.2) between 1999 and 2004. For this, the hypocentres were relocated and well-constrained fault plane solutions were obtained from the data set of 1270 clear P-wave polarities and 46 SH/P amplitude ratios. The focal mechanism solutions indicate that the prevailing faulting types in South Korea are strike-slip-dominant-oblique-slip faultings with minor reverse-slip component. The maximum principal stresses (σ1) estimated from fault-slip inversion analysis of the focal mechanism solutions show a similar orientation with E-W trend (269° -275°) and low-angle plunge (10° -25°) for all tectonic provinces in South Korea, consistent with the E-W trending maximum horizontal stress (σHmax) of the Amurian microplate reported from in situ stress measurements and earthquake focal mechanisms. The directions of the intermediate (σ2) and minimum (σ3) principal stresses of the Gyeongsang Basin are, however, about 90 deg off from those of the other tectonic provinces on a common σ2-σ3 plane, suggesting a permutation of σ2 and σ3. Our results incorporated with those from the kinematic studies of the Quaternary faults imply that NNW- to NE-striking faults (dextral strike-slip or oblique-slip with a reverse-slip component) are highly likely to generate earthquakes in South Korea.

  2. Eyespot development on butterfly wings: the focal signal.

    PubMed

    French, V; Brakefield, P M

    1995-03-01

    The eyespot colour pattern on butterfly wings is specified in the early pupal epidermis by signals from a central "focus." In Bicyclus anynana we show that a small square of focal epidermis, grafted to a range of distal wing sites, induces eyespot formation in surrounding host tissue. Signaling is limited to the focus, and even an adjacent (parafocal) graft does not maintain its normal fate (of contributing to the eyespot) and does not influence its surroundings. Along the wing, there is an abrupt change in the epidermis, as a focus grafted to a proximal site provokes no host response. The results of several grafting experiments demonstrate that their different response properties are autonomous to small areas of the distal and proximal epidermis and that the nonresponding proximal tissue can nonetheless transmit the focal sign. The Bicyclus dorsal forewing has a small anterior and a large posterior eyespot, and we show that this results mainly from a difference in focal signals, not in the epidermal response. A grafted posterior focus induces a large eyespot, whereas an anterior focus induces a small eyespot. Furthermore, the anterior and posterior eyespots differ in proportions, and this difference also depends on the identity of the focus, not on the responding epidermis. Eyespots are specified over many cell diameters from the focus by a mechanism which could consist of one long-range signal, such as a morphogen gradient or of a cascade of short-range interactions initiated by the focus. Focal control of the difference in size and proportion between the anterior and posterior eyespot is more readily compatible with a gradient mechanism. Neither model, however, readily explains why the pattern induced by a grafted focus is smaller, but its peripheral gold annulus is broader than in the corresponding control eyespot. Also, there is no direct evidence for long-range gradients, in the butterfly wing or any other insect epithelium.

  3. A Micro-Thermal Sensor for Focal Therapy Applications.

    PubMed

    Natesan, Harishankar; Hodges, Wyatt; Choi, Jeunghwan; Lubner, Sean; Dames, Chris; Bischof, John

    2016-02-26

    There is an urgent need for sensors deployed during focal therapies to inform treatment planning and in vivo monitoring in thin tissues. Specifically, the measurement of thermal properties, cooling surface contact, tissue thickness, blood flow and phase change with mm to sub mm accuracy are needed. As a proof of principle, we demonstrate that a micro-thermal sensor based on the supported "3ω" technique can achieve this in vitro under idealized conditions in 0.5 to 2 mm thick tissues relevant to cryoablation of the pulmonary vein (PV). To begin with "3ω" sensors were microfabricated onto flat glass as an idealization of a focal probe surface. The sensor was then used to make new measurements of 'k' (W/m.K) of porcine PV, esophagus, and phrenic nerve, all needed for PV cryoabalation treatment planning. Further, by modifying the sensor use from traditional to dynamic mode new measurements related to tissue vs. fluid (i.e. water) contact, fluid flow conditions, tissue thickness, and phase change were made. In summary, the in vitro idealized system data presented is promising and warrants future work to integrate and test supported "3ω" sensors on in vivo deployed focal therapy probe surfaces (i.e. balloons or catheters).

  4. A Micro-Thermal Sensor for Focal Therapy Applications

    NASA Astrophysics Data System (ADS)

    Natesan, Harishankar; Hodges, Wyatt; Choi, Jeunghwan; Lubner, Sean; Dames, Chris; Bischof, John

    2016-02-01

    There is an urgent need for sensors deployed during focal therapies to inform treatment planning and in vivo monitoring in thin tissues. Specifically, the measurement of thermal properties, cooling surface contact, tissue thickness, blood flow and phase change with mm to sub mm accuracy are needed. As a proof of principle, we demonstrate that a micro-thermal sensor based on the supported “3ω” technique can achieve this in vitro under idealized conditions in 0.5 to 2 mm thick tissues relevant to cryoablation of the pulmonary vein (PV). To begin with “3ω” sensors were microfabricated onto flat glass as an idealization of a focal probe surface. The sensor was then used to make new measurements of ‘k’ (W/m.K) of porcine PV, esophagus, and phrenic nerve, all needed for PV cryoabalation treatment planning. Further, by modifying the sensor use from traditional to dynamic mode new measurements related to tissue vs. fluid (i.e. water) contact, fluid flow conditions, tissue thickness, and phase change were made. In summary, the in vitro idealized system data presented is promising and warrants future work to integrate and test supported “3ω” sensors on in vivo deployed focal therapy probe surfaces (i.e. balloons or catheters).

  5. Rituximab in adult minimal change disease and focal segmental glomerulosclerosis.

    PubMed

    Kronbichler, Andreas; Bruchfeld, Annette

    2014-01-01

    Treatment of nephrotic syndrome due to minimal change disease and focal segmental glomerulosclerosis remains a challenge since steroid dependence, steroid resistance and a relapsing disease course exhibits a high cumulative steroid dosage. The necessity of using alternative steroid-sparing immunosuppressive agents with potential toxic side effects also restricts their long-term use. Rituximab, a monoclonal antibody targeting CD20, has been increasingly used in the therapy of difficult-to-treat nephrotic syndrome. A clinical response has been shown for patients with steroid-dependent or frequently relapsing nephrotic syndrome, whereas the benefit seems to be limited in steroid-resistant patients, especially those with underlying focal segmental glomerulosclerosis. No potentially life-threatening adverse events have been observed in the treatment of adult minimal change disease and focal segmental glomerulosclerosis following rituximab administration. Since most reports are retrospective and evidence of efficacy is derived from small case series, more prospective trials in a controlled, randomized manner are highly desirable to delineate the use of rituximab or other B cell-depleting agents in steroid-dependent, frequently relapsing or steroid-resistant patients.

  6. Functional Interrogation of Adult Hypothalamic Neurogenesis with Focal Radiological Inhibition

    PubMed Central

    Lee, Daniel A.; Salvatierra, Juan; Velarde, Esteban; Wong, John; Ford, Eric C.; Blackshaw, Seth

    2013-01-01

    The functional characterization of adult-born neurons remains a significant challenge. Approaches to inhibit adult neurogenesis via invasive viral delivery or transgenic animals have potential confounds that make interpretation of results from these studies difficult. New radiological tools are emerging, however, that allow one to noninvasively investigate the function of select groups of adult-born neurons through accurate and precise anatomical targeting in small animals. Focal ionizing radiation inhibits the birth and differentiation of new neurons, and allows targeting of specific neural progenitor regions. In order to illuminate the potential functional role that adult hypothalamic neurogenesis plays in the regulation of physiological processes, we developed a noninvasive focal irradiation technique to selectively inhibit the birth of adult-born neurons in the hypothalamic median eminence. We describe a method for Computer tomography-guided focal irradiation (CFIR) delivery to enable precise and accurate anatomical targeting in small animals. CFIR uses three-dimensional volumetric image guidance for localization and targeting of the radiation dose, minimizes radiation exposure to nontargeted brain regions, and allows for conformal dose distribution with sharp beam boundaries. This protocol allows one to ask questions regarding the function of adult-born neurons, but also opens areas to questions in areas of radiobiology, tumor biology, and immunology. These radiological tools will facilitate the translation of discoveries at the bench to the bedside. PMID:24300415

  7. [A case of focal epilepsy manifesting multiple psychiatric auras].

    PubMed

    Ezura, Michinori; Kakisaka, Yosuke; Jin, Kazutaka; Kato, Kazuhiro; Iwasaki, Masaki; Fujikawa, Mayu; Aoki, Masashi; Nakasato, Nobukazu

    2015-01-01

    We present a case of epilepsy with multiple types of focal seizures that were misdiagnosed as psychiatric disorders. A 20-year-old female patient presented with a variety of episodes, including loss of consciousness, deja vu, fear, delusion of possession, violent movements, and generalized convulsions. Each of these symptoms appeared in a stereotypic manner. She was initially diagnosed with a psychiatric disorder and treated with psychoactive medications, which had no effect. Long-term video electroencephalography revealed that her episodes of violent movement with impaired consciousness and secondarily generalized seizure were epileptic events originating in the right hemisphere. High-field brain magnetic resonance imaging for detecting subtle lesions revealed bilateral lesions from periventricular nodular heterotopia. Her final diagnosis was right hemispheric focal epilepsy. Carbamazepine administration was started, which successfully controlled all seizures. The present case demonstrates the pitfall of diagnosing focal epilepsy when it presents with multiple types of psychiatric aura. Epilepsy should thus be included in differential diagnoses, considering the stereotypic nature of symptoms, to avoid misdiagnosis.

  8. Exhaustive linearization for robust camera pose and focal length estimation.

    PubMed

    Penate-Sanchez, Adrian; Andrade-Cetto, Juan; Moreno-Noguer, Francesc

    2013-10-01

    We propose a novel approach for the estimation of the pose and focal length of a camera from a set of 3D-to-2D point correspondences. Our method compares favorably to competing approaches in that it is both more accurate than existing closed form solutions, as well as faster and also more accurate than iterative ones. Our approach is inspired on the EPnP algorithm, a recent O(n) solution for the calibrated case. Yet we show that considering the focal length as an additional unknown renders the linearization and relinearization techniques of the original approach no longer valid, especially with large amounts of noise. We present new methodologies to circumvent this limitation termed exhaustive linearization and exhaustive relinearization which perform a systematic exploration of the solution space in closed form. The method is evaluated on both real and synthetic data, and our results show that besides producing precise focal length estimation, the retrieved camera pose is almost as accurate as the one computed using the EPnP, which assumes a calibrated camera.

  9. A Micro-Thermal Sensor for Focal Therapy Applications

    PubMed Central

    Natesan, Harishankar; Hodges, Wyatt; Choi, Jeunghwan; Lubner, Sean; Dames, Chris; Bischof, John

    2016-01-01

    There is an urgent need for sensors deployed during focal therapies to inform treatment planning and in vivo monitoring in thin tissues. Specifically, the measurement of thermal properties, cooling surface contact, tissue thickness, blood flow and phase change with mm to sub mm accuracy are needed. As a proof of principle, we demonstrate that a micro-thermal sensor based on the supported “3ω” technique can achieve this in vitro under idealized conditions in 0.5 to 2 mm thick tissues relevant to cryoablation of the pulmonary vein (PV). To begin with “3ω” sensors were microfabricated onto flat glass as an idealization of a focal probe surface. The sensor was then used to make new measurements of ‘k’ (W/m.K) of porcine PV, esophagus, and phrenic nerve, all needed for PV cryoabalation treatment planning. Further, by modifying the sensor use from traditional to dynamic mode new measurements related to tissue vs. fluid (i.e. water) contact, fluid flow conditions, tissue thickness, and phase change were made. In summary, the in vitro idealized system data presented is promising and warrants future work to integrate and test supported “3ω” sensors on in vivo deployed focal therapy probe surfaces (i.e. balloons or catheters). PMID:26916460

  10. Focal Point Inside the Vacuum Chamber for Solar Thermal Propulsion

    NASA Technical Reports Server (NTRS)

    1999-01-01

    Researchers at the Marshall Space Flight Center (MSFC) have designed, fabricated, and tested the first solar thermal engine, a non-chemical rocket engine that produces lower thrust but has better thrust efficiency than a chemical combustion engine. MSFC turned to solar thermal propulsion in the early 1990s due to its simplicity, safety, low cost, and commonality with other propulsion systems. Solar thermal propulsion works by acquiring and redirecting solar energy to heat a propellant. The 20- by 24-ft heliostat mirror (not shown in this photograph) has dual-axis control that keeps a reflection of the sunlight on an 18-ft diameter concentrator mirror, which then focuses the sunlight to a 4-in focal point inside the vacuum chamber. The focal point has 10 kilowatts of intense solar power. This photograph is a close-up view of a 4-in focal point inside the vacuum chamber at the MSFC Solar Thermal Propulsion Test facility. As part of MSFC's Space Transportation Directorate, the Propulsion Research Center serves as a national resource for research of advanced, revolutionary propulsion technologies. The mission is to move the Nation's capabilities beyond the confines of conventional chemical propulsion into an era of aircraft-like access to Earth orbit, rapid travel throughout the solar system, and exploration of interstellar space.

  11. Reduplicative paramnesia in patients with focal brain damage.

    PubMed

    Murai, T; Toichi, M; Sengoku, A; Miyoshi, K; Morimune, S

    1997-07-01

    Reduplicative paramnesia (RP) has drawn attention as a distinct behavioral syndrome caused by focal brain damage. To elucidate the pathogenesis of RP, we assessed its prevalence among patients with focal brain damage and followed those patients with typical RP. Seventy-seven patients with focal brain damage (47 with left hemispheric, 21 with right hemispheric, and 9 with bilateral damage) were assessed for the presence of RP using a questionnaire intended to elucidate this condition. Two patients showed typical RP for place, and four patients showed atypical RP (three for place and one for person); altogether, these six patients constituted 7.8% of the sample. In three patients, the lesions were situated in the right hemisphere; in two, the lesions were bilateral (right dominant); and in one, the lesions were in the left hemisphere, indicating the relative importance of right hemispheric damage and a possible contributory role of additional left hemispheric damage in RP. The case studies of patients with typical RP suggest the heterogeneity of the underlying cognitive factors in RP.

  12. Focal and abnormally persistent paralysis associated with congenital paramyotonia.

    PubMed

    Magot, Armelle; David, Albert; Sternberg, Damien; Péréon, Yann

    2014-01-01

    Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia and cold-induced persistent and focal paralysis. A 27-year-old woman presented with paramyotonia congenita since her childhood. She experienced during her childhood one brief episode of generalised weakness. At the age of 27, she experienced a focal paresis lasting for several months. The known mutation p.Val1293Ile was found in the muscle sodium channel gene (SCN4A). Channel inactivation is involved in most Na(+) channelopathies. Fast inactivation is known to be responsible for the myotonia phenotype. We hypothesise that the V1293I mutation may also alter the slow inactivation in specific conditions, for example, prolonged cold exposure or prolonged and intensive exercise. This observation broadens the spectrum of clinical manifestations of this sodium channel mutation. PMID:24939454

  13. Focal brain atrophy in gastric bypass patients with cognitive complaints

    PubMed Central

    Graff-Radford, Jonathan; Whitwell, Jennifer L.; Trenerry, Max R.; Ahlskog, J. Eric; Jensen, Michael D.; Jack, Clifford R.; Josephs, Keith A.

    2012-01-01

    Recently, we have noticed a series of patients presenting for cognitive complaints after gastric bypass, without any identifiable etiology. We set out to determine whether any focal brain atrophy could account for the complaints. A retrospective case series was performed to identify patients with cognitive complaints following gastric bypass that had a volumetric MRI. Voxel-based morphometry was used to assess patterns of grey matter loss in all 10 patients identified, compared to ten age and gender-matched controls. All patients had undergone Roux-en-Y gastric bypass at a median age of 54 (range: 46–64). Cognitive complaints began at a median age of 57 (52–69). Formal neuropsychometric testing revealed only minor deficits. No nutritional abnormalities were identified. Voxel-based morphometry demonstrated focal thalamic atrophy in the gastric bypass patients when compared to controls. Patients with cognitive complaints after gastric bypass surgery have focal thalamic brain atrophy that could account for the cognitive impairment. PMID:22088949

  14. Botulinum Toxin Treatment of Autonomic Disorders: Focal Hyperhidrosis and Sialorrhea.

    PubMed

    Hosp, Christine; Naumann, Markus K; Hamm, Henning

    2016-02-01

    Primary focal hyperhidrosis is a common autonomic disorder that significantly impacts quality of life. It is characterized by excessive sweating confined to circumscribed areas, such as the axillae, palms, soles, and face. Less frequent types of focal hyperhidrosis secondary to underlying causes include gustatory sweating in Frey's syndrome and compensatory sweating in Ross' syndrome and after sympathectomy. Approval of onabotulinumtoxinA for severe primary axillary hyperhidrosis in 2004 has revolutionized the treatment of this indication. Meanwhile further type A botulinum neurotoxins like abobotulinumtoxinA and incobotulinumtoxinA, as well as the type B botulinum neurotoxin rimabotulinumtoxinB are successfully used off-label for axillary and various other types of focal hyperhidrosis. For unexplained reasons, the duration of effect differs considerably at different sites. Beside hyperhidrosis, botulinum neurotoxin is also highly valued for the treatment of sialorrhea affecting patients with Parkinson's disease, cerebral palsy, amyotrophic lateral sclerosis, motor neuron disease, and other neurologic conditions. With correct dosing and application, side effects are manageable and transient. PMID:26866492

  15. Focal Hyperhidrosis Associated with Recurrent Urinary Tract Infections.

    PubMed

    Ismail, Dina; Madhwapathi, Vidya; Ladoyanni, Evmorfia

    2016-01-01

    Hyperhidrosis affects almost 3% of the population and is characterized by sweating that occurs in excess of that needed for normal thermoregulation. It can occur as a primary disease or secondary to underlying clinical conditions. Hyperhidrosis can stem from neurogenic sympathetic over activity involving normal eccrine glands. We report the interesting case of a 75-year-old male patient with a 6-month history of new onset secondary focal hyperhidrosis of buttocks, pelvis, and upper thighs. Each time his symptoms worsened he was found to have culture positive urine samples for Escherichia coli (E. coli). He underwent urological investigation and was found to have urethral strictures and cystitis. The hyperhidrosis improved each time his urinary tract infection (UTI) was treated with antibiotics and continued to remain stable with a course of prophylactic trimethoprim. We hypothesize that the patient's urethral strictures led to inhibition in voiding which in turn increased the susceptibility to UTIs. Accumulation of urine and increased bladder pressure in turn raised sympathetic nerve discharge leading to excessive sweating. We recommend that a urine dip form part of the routine assessment of patients presenting with new onset focal hyperhidrosis of pelvis, buttocks, and upper thighs. Timely urological referral should be made for all male patients with recurrent UTI. To the authors' knowledge, there have been no other reports of UTI-associated focal hyperhidrosis. PMID:27379188

  16. Focal Adhesion Assembly Induces Phenotypic Changes and Dedifferentiation in Chondrocytes.

    PubMed

    Shin, Hyunjun; Lee, Mi Nam; Choung, Jin Seung; Kim, Sanghee; Choi, Byung Hyune; Noh, Minsoo; Shin, Jennifer H

    2016-08-01

    The expansion of autologous chondrocytes in vitro is used to generate sufficient populations for cell-based therapies. However, during monolayer culture, chondrocytes lose inherent characteristics and shift to fibroblast-like cells as passage number increase. Here, we investigated passage-dependent changes in cellular physiology, including cellular morphology, motility, and gene and protein expression, as well as the role of focal adhesion and cytoskeletal regulation in the dedifferentiation process. We found that the gene and protein expression levels of both the focal adhesion complex and small Rho GTPases are upregulated with increasing passage number and are closely linked to chondrocyte dedifferentiation. The inhibition of focal adhesion kinase (FAK) but not small Rho GTPases induced the loss of fibroblastic traits and the recovery of collagen type II, aggrecan, and SOX9 expression levels in dedifferentiated chondrocytes. Based on these findings, we propose a strategy to suppress chondrogenic dedifferentiation by inhibiting the identified FAK or Src pathways while maintaining the expansion capability of chondrocytes in a 2D environment. These results highlight a potential therapeutic target for the treatment of skeletal diseases and the generation of cartilage in tissue-engineering approaches. J. Cell. Physiol. 231: 1822-1831, 2016. © 2015 Wiley Periodicals, Inc. PMID:26661891

  17. Focal Cortical Dysplasia (FCD) lesion analysis with complex diffusion approach.

    PubMed

    Rajan, Jeny; Kannan, K; Kesavadas, C; Thomas, Bejoy

    2009-10-01

    Identification of Focal Cortical Dysplasia (FCD) can be difficult due to the subtle MRI changes. Though sequences like FLAIR (fluid attenuated inversion recovery) can detect a large majority of these lesions, there are smaller lesions without signal changes that can easily go unnoticed by the naked eye. The aim of this study is to improve the visibility of focal cortical dysplasia lesions in the T1 weighted brain MRI images. In the proposed method, we used a complex diffusion based approach for calculating the FCD affected areas. Based on the diffused image and thickness map, a complex map is created. From this complex map; FCD areas can be easily identified. MRI brains of 48 subjects selected by neuroradiologists were given to computer scientists who developed the complex map for identifying the cortical dysplasia. The scientists were blinded to the MRI interpretation result of the neuroradiologist. The FCD could be identified in all the patients in whom surgery was done, however three patients had false positive lesions. More lesions were identified in patients in whom surgery was not performed and lesions were seen in few of the controls. These were considered as false positive. This computer aided detection technique using complex diffusion approach can help detect focal cortical dysplasia in patients with epilepsy. PMID:19560319

  18. SIRTF Focal Plane Survey: A Pre-flight Error Analysis

    NASA Technical Reports Server (NTRS)

    Bayard, David S.; Brugarolas, Paul B.; Boussalis, Dhemetrios; Kang, Bryan H.

    2003-01-01

    This report contains a pre-flight error analysis of the calibration accuracies expected from implementing the currently planned SIRTF focal plane survey strategy. The main purpose of this study is to verify that the planned strategy will meet focal plane survey calibration requirements (as put forth in the SIRTF IOC-SV Mission Plan [4]), and to quantify the actual accuracies expected. The error analysis was performed by running the Instrument Pointing Frame (IPF) Kalman filter on a complete set of simulated IOC-SV survey data, and studying the resulting propagated covariances. The main conclusion of this study is that the all focal plane calibration requirements can be met with the currently planned survey strategy. The associated margins range from 3 to 95 percent, and tend to be smallest for frames having a 0.14" requirement, and largest for frames having a more generous 0.28" (or larger) requirement. The smallest margin of 3 percent is associated with the IRAC 3.6 and 5.8 micron array centers (frames 068 and 069), and the largest margin of 95 percent is associated with the MIPS 160 micron array center (frame 087). For pointing purposes, the most critical calibrations are for the IRS Peakup sweet spots and short wavelength slit centers (frames 019, 023, 052, 028, 034). Results show that these frames are meeting their 0.14" requirements with an expected accuracy of approximately 0.1", which corresponds to a 28 percent margin.

  19. Botulinum Toxin Treatment of Autonomic Disorders: Focal Hyperhidrosis and Sialorrhea.

    PubMed

    Hosp, Christine; Naumann, Markus K; Hamm, Henning

    2016-02-01

    Primary focal hyperhidrosis is a common autonomic disorder that significantly impacts quality of life. It is characterized by excessive sweating confined to circumscribed areas, such as the axillae, palms, soles, and face. Less frequent types of focal hyperhidrosis secondary to underlying causes include gustatory sweating in Frey's syndrome and compensatory sweating in Ross' syndrome and after sympathectomy. Approval of onabotulinumtoxinA for severe primary axillary hyperhidrosis in 2004 has revolutionized the treatment of this indication. Meanwhile further type A botulinum neurotoxins like abobotulinumtoxinA and incobotulinumtoxinA, as well as the type B botulinum neurotoxin rimabotulinumtoxinB are successfully used off-label for axillary and various other types of focal hyperhidrosis. For unexplained reasons, the duration of effect differs considerably at different sites. Beside hyperhidrosis, botulinum neurotoxin is also highly valued for the treatment of sialorrhea affecting patients with Parkinson's disease, cerebral palsy, amyotrophic lateral sclerosis, motor neuron disease, and other neurologic conditions. With correct dosing and application, side effects are manageable and transient.

  20. Achromatic Focal Plane Mask for Exoplanet Imaging Coronagraphy

    NASA Technical Reports Server (NTRS)

    Newman, Kevin Edward; Belikov, Ruslan; Guyon, Olivier; Balasubramanian, Kunjithapatham; Wilson, Dan

    2013-01-01

    Recent advances in coronagraph technologies for exoplanet imaging have achieved contrasts close to 1e10 at 4 lambda/D and 1e-9 at 2 lambda/D in monochromatic light. A remaining technological challenge is to achieve high contrast in broadband light; a challenge that is largely limited by chromaticity of the focal plane mask. The size of a star image scales linearly with wavelength. Focal plane masks are typically the same size at all wavelengths, and must be sized for the longest wavelength in the observational band to avoid starlight leakage. However, this oversized mask blocks useful discovery space from the shorter wavelengths. We present here the design, development, and testing of an achromatic focal plane mask based on the concept of optical filtering by a diffractive optical element (DOE). The mask consists of an array of DOE cells, the combination of which functions as a wavelength filter with any desired amplitude and phase transmission. The effective size of the mask scales nearly linearly with wavelength, and allows significant improvement in the inner working angle of the coronagraph at shorter wavelengths. The design is applicable to almost any coronagraph configuration, and enables operation in a wider band of wavelengths than would otherwise be possible. We include initial results from a laboratory demonstration of the mask with the Phase Induced Amplitude Apodization coronagraph.

  1. The impact of focal spot size on clinical images

    NASA Astrophysics Data System (ADS)

    Gorham, Sinead M.; Brennan, Patrick C.

    2009-02-01

    The physical assessment of the spatial resolution produced by broad and fine focal spot sizes has been well established. There is however an evident lack of study into the impact of focal spot selection on clinical image quality. While the excessive use of the fine focus has an impact on tube life, the benefit of its use in radiological imaging should be investigated. Cadaver images were produced in order to compare the 0.8mm and 1.8mm focal spot sizes. The range of radiographic projections assessed included the medio-lateral ankle, antero-posterior (AP) knee, AP thoracic spine and horizontal beam lateral (HBL) lumbar spine. Five clinicians analysed the images using a 1 - 4 visual grading analysis score against a reference image to assess the visibility of specific anatomical criteria. A Mann- Whitney U statistical test was employed to assess the results. No significant statistical differences between the scores for the broad and fine focus images were found, although a non-significant higher score in image quality was shown for the fine compared with the broad focus images with large object to detector distance. No difference in image quality was shown for examinations traditionally produced with a fine focus. The study results questions the wide spread usage of fine foci for specific examinations, particularly for extremity examinations. Current practice based on international guidelines can lead to a reduced life and increased cost with little clinical benefit.

  2. Exhaustive linearization for robust camera pose and focal length estimation.

    PubMed

    Penate-Sanchez, Adrian; Andrade-Cetto, Juan; Moreno-Noguer, Francesc

    2013-10-01

    We propose a novel approach for the estimation of the pose and focal length of a camera from a set of 3D-to-2D point correspondences. Our method compares favorably to competing approaches in that it is both more accurate than existing closed form solutions, as well as faster and also more accurate than iterative ones. Our approach is inspired on the EPnP algorithm, a recent O(n) solution for the calibrated case. Yet we show that considering the focal length as an additional unknown renders the linearization and relinearization techniques of the original approach no longer valid, especially with large amounts of noise. We present new methodologies to circumvent this limitation termed exhaustive linearization and exhaustive relinearization which perform a systematic exploration of the solution space in closed form. The method is evaluated on both real and synthetic data, and our results show that besides producing precise focal length estimation, the retrieved camera pose is almost as accurate as the one computed using the EPnP, which assumes a calibrated camera. PMID:23969384

  3. Neuronal polarity selection by topography-induced focal adhesion control.

    PubMed

    Ferrari, Aldo; Cecchini, Marco; Serresi, Michela; Faraci, Paolo; Pisignano, Dario; Beltram, Fabio

    2010-06-01

    Interaction between differentiating neurons and the extracellular environment guides the establishment of cell polarity during nervous system development. Developing neurons read the physical properties of the local substrate in a contact-dependent manner and retrieve essential guidance cues. In previous works we demonstrated that PC12 cell interaction with nanogratings (alternating lines of ridges and grooves of submicron size) promotes bipolarity and alignment to the substrate topography. Here, we investigate the role of focal adhesions, cell contractility, and actin dynamics in this process. Exploiting nanoimprint lithography techniques and a cyclic olefin copolymer, we engineered biocompatible nanostructured substrates designed for high-resolution live-cell microscopy. Our results reveal that neuronal polarization and contact guidance are based on a geometrical constraint of focal adhesions resulting in an angular modulation of their maturation and persistence. We report on ROCK1/2-myosin-II pathway activity and demonstrate that ROCK-mediated contractility contributes to polarity selection during neuronal differentiation. Importantly, the selection process confined the generation of actin-supported membrane protrusions and the initiation of new neurites at the poles. Maintenance of the established polarity was independent from NGF stimulation. Altogether our results imply that focal adhesions and cell contractility stably link the topographical configuration of the extracellular environment to a corresponding neuronal polarity state. PMID:20304485

  4. Focal Hyperhidrosis Associated with Recurrent Urinary Tract Infections

    PubMed Central

    Madhwapathi, Vidya; Ladoyanni, Evmorfia

    2016-01-01

    Hyperhidrosis affects almost 3% of the population and is characterized by sweating that occurs in excess of that needed for normal thermoregulation. It can occur as a primary disease or secondary to underlying clinical conditions. Hyperhidrosis can stem from neurogenic sympathetic over activity involving normal eccrine glands. We report the interesting case of a 75-year-old male patient with a 6-month history of new onset secondary focal hyperhidrosis of buttocks, pelvis, and upper thighs. Each time his symptoms worsened he was found to have culture positive urine samples for Escherichia coli (E. coli). He underwent urological investigation and was found to have urethral strictures and cystitis. The hyperhidrosis improved each time his urinary tract infection (UTI) was treated with antibiotics and continued to remain stable with a course of prophylactic trimethoprim. We hypothesize that the patient's urethral strictures led to inhibition in voiding which in turn increased the susceptibility to UTIs. Accumulation of urine and increased bladder pressure in turn raised sympathetic nerve discharge leading to excessive sweating. We recommend that a urine dip form part of the routine assessment of patients presenting with new onset focal hyperhidrosis of pelvis, buttocks, and upper thighs. Timely urological referral should be made for all male patients with recurrent UTI. To the authors' knowledge, there have been no other reports of UTI-associated focal hyperhidrosis. PMID:27379188

  5. Intraplate stress field in South America from earthquake focal mechanisms

    NASA Astrophysics Data System (ADS)

    Assumpção, Marcelo; Dias, Fábio L.; Zevallos, Ivan; Naliboff, John B.

    2016-11-01

    We present an updated compilation of earthquake focal mechanisms in Brazil together with focal mechanisms from the sub-Andean region (mainly from global CMT catalogs). All earthquakes in the sub-Andean region show reverse (majority) or strike-slip faulting mechanisms. Focal mechanisms in Brazil show reverse, strike-slip and normal faulting. Focal mechanisms of nearby earthquakes in the same tectonic environment were grouped and inverted for the stress tensor. In the sub-Andean region, stresses are compressional, as expected, with the principal major compression (S1) roughly E-W, on average. A slight rotation of S1 can be observed and is controlled by the orientation of the Andean plateau. In the sub-Andean region, the intermediate principal stress (S2) is also compressional (i.e., larger than the lithostatic pressure, Sv), a feature that is not always reproduced in numerical models published in the literature. In mid-plate South America stresses seem to vary in nature and orientation. In SE Brazil and the Chaco-Pantanal basins, S1 tends to be oriented roughly E-W with S2 approximately equal to S3. This stress pattern changes to purely compressional (both SHmax and Shmin larger than Sv) in the São Francisco craton. A rotation of SHmax from E-W to SE-NW is suggested towards the Amazon region. Along the Atlantic margin, the regional stresses are very much affected by coastal effects (due to continent/ocean spreading stresses as well as flexural effects from sediment load at the continental margin). This coastal effect tends to make SHmax parallel to the coastline and Shmin (usually S3) perpendicular to the coastline. Few breakout data and in-situ measurements are available in Brazil and are generally consistent with the pattern derived from the earthquake focal mechanisms. Although numerical models of global lithospheric stresses tend to reproduce the main large-scale features in most mid-plate areas, the S1 rotation from ∼E-W in SE Brazil to SE-NW in the Amazon

  6. Curved-Focal-Plane Arrays Using Deformed-Membrane Photodetectors

    NASA Technical Reports Server (NTRS)

    Nikzad, Shouleh; Jones, Todd

    2004-01-01

    A versatile and simple approach to the design and fabrication of curved-focal-plane arrays of silicon-based photodetectors is being developed. This approach is an alternative to the one described in "Curved Focal-Plane Arrays Using Back- Illuminated High-Purity Photodetectors" (NPO-30566), NASA Tech Briefs, Vol. 27, No. 10 (October 2003), page 10a. As in the cited prior article, the basic idea is to improve the performance of an imaging instrument and simplify the optics needed to obtain a given level of performance by making an image sensor (in this case, an array of photodetectors) conform to a curved focal surface, instead of designing the optics to project an image onto a flat focal surface. There is biological precedent for curved-focal-surface designs: retinas - the image sensors in eyes - conform to the naturally curved focal surfaces of eye lenses. The present approach is applicable to both front-side- and back-side-illuminated, membrane photodetector arrays and is being demonstrated on charge-coupled devices (CCDs). The very-large scale integrated (VLSI) circuitry of such a CCD or other array is fabricated on the front side of a silicon substrate, then the CCD substrate is attached temporarily to a second substrate for mechanical support, then material is removed from the back to obtain the CCD membrane, which typically has a thickness between 10 and 20 m. In the case of a CCD designed to operate in back-surface illumination, delta doping can be performed after thinning to enhance the sensitivity. This approach is independent of the design and method of fabrication of the front-side VLSI circuitry and does not involve any processing of a curved silicon substrate. In this approach, a third substrate would be prepared by polishing one of its surfaces to a required focal-surface curvature. A CCD membrane fabricated as described above would be pressed against, deformed into conformity with, and bonded to, the curved surface. The technique used to press and

  7. Evaluating localized prostate cancer and identifying candidates for focal therapy.

    PubMed

    Sartor, A Oliver; Hricak, Hedvig; Wheeler, Thomas M; Coleman, Jonathan; Penson, David F; Carroll, Peter R; Rubin, Mark A; Scardino, Peter T

    2008-12-01

    Can focal therapy successfully control prostate cancer? Also, if so, which patients should be considered eligible? With limited data available from relatively few patients, these questions are difficult to answer. At this writing, the most likely candidates for focal therapy are patients with low-risk, small-volume tumors, located in 1 region or sector of the prostate, who would benefit from early intervention. The difficulty lies in reliably identifying these men. The larger number of cores obtained in each needle biopsy session has increased both the detection of prostate cancer and the potential risk of overtreating many patients whose cancers pose very little risk to life or health. Urologists typically perform at least a 12-core template biopsy. Although the debate continues about the optimal template, laterally and peripherally directed biopsies have been shown to improve the diagnostic yield. However, as many as 25% of tumors arise anteriorly and can be missed with peripherally directed techniques. Prostate cancer tends to be multifocal, even in its earliest stages. However, the secondary cancers are usually smaller and less aggressive than the index cancer. They appear similar to the incidental cancers found in cystoprostatectomy specimens and appear to have little effect on prognosis in surgical series. When a single focus of cancer is found in 1 core, physicians rightly suspect that more foci of cancer are present in the prostate. Assessing the risk in these patients is challenging when determined by the biopsy data alone. To predict the presence of a very low-risk or "indolent" cancer, nomograms have been developed to incorporate clinical stage, Gleason grade, prostate-specific antigen levels, and prostate volume, along with the quantitative analysis of the biopsy results. Transperineal "mapping" or "saturation" biopsies have been advocated to detect cancers missed or underestimated by previous transrectal biopsies. This approach could provide the

  8. Intermittent rhythmic delta activity (IRDA) morphology cannot distinguish between focal and diffuse brain disturbances.

    PubMed

    Neufeld, M Y; Chistik, V; Chapman, J; Korczyn, A D

    1999-03-15

    IRDA (intermittent rhythmic delta activity) is an abnormal generalized EEG pattern that is not specific to any single etiology and can occur with diffuse or focal cerebral disturbances. To determine whether different electrographic features of IRDA and associated EEG findings can differentiate underlying focal from diffuse brain disturbances, we performed a blind analysis of 58 consecutive EEGs with an IRDA pattern, recorded from 1993 until 1996, in which we evaluated posterior background activity, focal slowing and IRDA characteristics (frequency, distribution, duration, symmetry and abundance). The clinical diagnosis, state of consciousness and CT brain findings were retrieved from the patients' hospital records. There were 58 patients (33 females; mean age, 58+/-21 years). Twelve (21%) had only focal brain lesions, while 46 (79%) had diffuse brain abnormalities, (15 diffuse structural, 19 metabolic abnormalities, 12 postictal). Normal consciousness and focal EEG slowing were more frequent in patients with focal abnormalities, however, this was not statistically significant. Of the patients with focal abnormality, 11 (92%) had normal posterior background activity either bilaterally (n=4) or contralateral to the focal lesion (n=7). Bilaterally normal posterior background activity was observed in about 30% in both groups. Bilaterally abnormal posterior background activity was apparent in one patient (8%) with focal brain lesion and in 31 patients (67%) with diffuse brain abnormalities (P<0.0001). There were no significant differences in IRDA electrographic features between the focal group and the group with diffuse brain disturbances. We conclude that IRDA morphology cannot distinguish between focal and diffuse brain abnormalities.

  9. Stress tensor and focal mechanisms in the Dead Sea basin

    NASA Astrophysics Data System (ADS)

    Hofstetter, A.; Dorbath, C.; Dorbath, L.; Braeuer, B.; Weber, M. H.

    2015-12-01

    We use the recorded seismicity, confined to the Dead Sea basin and its boundaries, by the Dead Sea Integrated Research (DESIRE) portable seismic network and the Israel and Jordan permanent seismic networks for studying the mechanisms of earthquakes that occurred in the Dead Sea basin. The observed seismicity in the Dead Sea basin was divided into 9 regions according to the spatial distribution of the earthquakes and the known tectonic features. The large number of recording stations and the good station distribution allowed the reliable determinations of 494 earthquake focal mechanisms. For each region, based on the inversion of the observed polarities of the earthquakes, we determine the focal mechanisms and the associated stress tensor. For 159 earthquakes out of the 494 mechanisms we could determine compatible fault planes. On the eastern side, the focal mechanisms are mainly strike-slip mechanism with nodal planes in the N-S and E-W directions. The azimuths of the stress axes are well constrained presenting minimal variability in the inversion of the data, which is in good agreement with the Arava fault on the eastern side of the Dead Sea basin and what we had expected from the regional geodynamics. However, larger variabilities of the azimuthal and dip angles are observed on the western side of the basin. Due to the wider range of azimuths of the fault planes, we observe the switching of sigma1 and sigma2 or the switching of sigma2 and sigma3as major horizontal stress directions. This observed switching of stress axes allows having dip-slip and normal mechanisms in a region that is dominated by strike-slip motion.

  10. Temperament and character properties of primary focal hyperhidrosis patients

    PubMed Central

    2013-01-01

    Background Primary focal hyperhidrosis is a health problem, which has negative effects on the patient's quality of life and significantly affects the patients’ daily activities, social and business life. The aim of this study is to evaluate temperament and character properties of patients diagnosed with primary focal hyperhidrosis. Methods Fifty-six primary focal hyperhidrosis (22.42 ± 7.80) and 49 control subjects (24.48 ± 5.17) participated in the study. Patients who met the diagnostic criteria for PFH were referred to psychiatry clinic where the subjects were evaluated through Structured Clinical Interview for DSM Disorders-I and Temperament and Character Inventory. Results In order to examine the difference between the PFH and control group in terms of temperament and character properties, one-way Multivariate Analysis of Variance (MANOVA) was conducted. In terms of temperament properties, PFH group took significantly higher scores than control group in Fatigability and asthenia dimension. In terms of character properties, PFH group scored significantly lower than control group in Purposefulness , Resourcefulness , Self-Directedness and scored significantly higher than control group in Self-forgetfulness and Self-Transcendence. Conclusion Temperament and character features of PFH patients were different from healthy group and it was considered that these features were affected by many factors including genetic, biological, environmental, socio-cultural elements. During the follow-up of PFH cases, psychiatric evaluation is important and interventions, especially psychotherapeutic interventions can increase the chances of success of the dermatological treatments and can have a positive impact on the quality of life and social cohesion of chronic cases. PMID:23311945

  11. Kalman Filter for Calibrating a Telescope Focal Plane

    NASA Technical Reports Server (NTRS)

    Kang, Bryan; Bayard, David

    2006-01-01

    The instrument-pointing frame (IPF) Kalman filter, and an algorithm that implements this filter, have been devised for calibrating the focal plane of a telescope. As used here, calibration signifies, more specifically, a combination of measurements and calculations directed toward ensuring accuracy in aiming the telescope and determining the locations of objects imaged in various arrays of photodetectors in instruments located on the focal plane. The IPF Kalman filter was originally intended for application to a spaceborne infrared astronomical telescope, but can also be applied to other spaceborne and ground-based telescopes. In the traditional approach to calibration of a telescope, (1) one team of experts concentrates on estimating parameters (e.g., pointing alignments and gyroscope drifts) that are classified as being of primarily an engineering nature, (2) another team of experts concentrates on estimating calibration parameters (e.g., plate scales and optical distortions) that are classified as being primarily of a scientific nature, and (3) the two teams repeatedly exchange data in an iterative process in which each team refines its estimates with the help of the data provided by the other team. This iterative process is inefficient and uneconomical because it is time-consuming and entails the maintenance of two survey teams and the development of computer programs specific to the requirements of each team. Moreover, theoretical analysis reveals that the engineering/ science iterative approach is not optimal in that it does not yield the best estimates of focal-plane parameters and, depending on the application, may not even enable convergence toward a set of estimates.

  12. Focal-plane detector system for the KATRIN experiment

    NASA Astrophysics Data System (ADS)

    Amsbaugh, J. F.; Barrett, J.; Beglarian, A.; Bergmann, T.; Bichsel, H.; Bodine, L. I.; Bonn, J.; Boyd, N. M.; Burritt, T. H.; Chaoui, Z.; Chilingaryan, S.; Corona, T. J.; Doe, P. J.; Dunmore, J. A.; Enomoto, S.; Formaggio, J. A.; Fränkle, F. M.; Furse, D.; Gemmeke, H.; Glück, F.; Harms, F.; Harper, G. C.; Hartmann, J.; Howe, M. A.; Kaboth, A.; Kelsey, J.; Knauer, M.; Kopmann, A.; Leber, M. L.; Martin, E. L.; Middleman, K. J.; Myers, A. W.; Oblath, N. S.; Parno, D. S.; Peterson, D. A.; Petzold, L.; Phillips, D. G.; Renschler, P.; Robertson, R. G. H.; Schwarz, J.; Steidl, M.; Tcherniakhovski, D.; Thümmler, T.; Van Wechel, T. D.; VanDevender, B. A.; Vöcking, S.; Wall, B. L.; Wierman, K. L.; Wilkerson, J. F.; Wüstling, S.

    2015-04-01

    The focal-plane detector system for the KArlsruhe TRItium Neutrino (KATRIN) experiment consists of a multi-pixel silicon p-i-n-diode array, custom readout electronics, two superconducting solenoid magnets, an ultra high-vacuum system, a high-vacuum system, calibration and monitoring devices, a scintillating veto, and a custom data-acquisition system. It is designed to detect the low-energy electrons selected by the KATRIN main spectrometer. We describe the system and summarize its performance after its final installation.

  13. Steroid-responsive polyradiculopathy in association with focal segmental glomerulosclerosis

    PubMed Central

    Chapman, Andrew R.; Gamble, Paul; Pollock, Anne Marie; Joss, Nicola

    2013-01-01

    An 80-year-old woman presented with simultaneous increasing muscle weakness and nephrotic syndrome. A renal biopsy confirmed focal segmental glomerulosclerosis (FSGS). Her neurological diagnosis best fitted with a Guillain–Barre-like syndrome. There have been several cases of FSGS in combination with both conventional and atypical Guillain–Barre syndrome (GBS). Our patient was treated with high-dose steroids and resolution of both nephrotic syndrome and neurological symptoms occurred over 6 months. This article reviews all previously published presentations of this nature and discusses putative mechanisms for the development of concurrent FSGS and GBS. PMID:26069832

  14. Focal plane array with modular pixel array components for scalability

    DOEpatents

    Kay, Randolph R; Campbell, David V; Shinde, Subhash L; Rienstra, Jeffrey L; Serkland, Darwin K; Holmes, Michael L

    2014-12-09

    A modular, scalable focal plane array is provided as an array of integrated circuit dice, wherein each die includes a given amount of modular pixel array circuitry. The array of dice effectively multiplies the amount of modular pixel array circuitry to produce a larger pixel array without increasing die size. Desired pixel pitch across the enlarged pixel array is preserved by forming die stacks with each pixel array circuitry die stacked on a separate die that contains the corresponding signal processing circuitry. Techniques for die stack interconnections and die stack placement are implemented to ensure that the desired pixel pitch is preserved across the enlarged pixel array.

  15. Focal plane detectors possible detector technologies for OWL/AIRWATCH

    SciTech Connect

    Flyckt, Esso

    1998-06-15

    New satellite-born projects OWL and AIRWATCH will need single-photon focal-plane detectors of a million pixels in a design which is optimized to the focusing optics and electronics at acceptable cost. We discuss different phototube possibilities and their pros and cons with crude cost estimates. We conclude that a multichannel-photomultiplier solution is safe. A better compromise may be to adapt a 6 or 9 inch X-ray image intensifier tube or develop a 12 inch image intensifier for detecting individual photons, and adapt the optics to have many mirror modules. The possibility of developing super-large-area phototubes is also discussed.

  16. Innovative focal plane design for large space telescopes

    NASA Astrophysics Data System (ADS)

    Jahn, Wilfried; Ferrari, Marc; Hugot, Emmanuel

    2016-07-01

    Future large drift-scan space telescopes, providing high angular resolution and sensitive observations, require long linear focal planes covering large fields of view. In order to reach higher on-earth spatial resolution while keeping a large field of view, the use of homothetic imaging systems is prohibitive for VIS/IR applications. Based on Integral Field Unit technology developed for ground based instrumentation, we present an innovative optical system reorganizing a 1D field of view on a 2D detector array. Such a solution presents a high gain in terms of volume and weight, allowing compact cryogenic systems for IR observations.

  17. Assembly and mechanosensory function of focal adhesions: experiments and models.

    PubMed

    Bershadsky, Alexander D; Ballestrem, Christoph; Carramusa, Letizia; Zilberman, Yuliya; Gilquin, Benoit; Khochbin, Saadi; Alexandrova, Antonina Y; Verkhovsky, Alexander B; Shemesh, Tom; Kozlov, Michael M

    2006-04-01

    Initial integrin-mediated cell-matrix adhesions (focal complexes) appear underneath the lamellipodia, in the regions of the "fast" centripetal flow driven by actin polymerization. Once formed, these adhesions convert the flow behind them into a "slow", myosin II-driven mode. Some focal complexes then turn into elongated focal adhesions (FAs) associated with contractile actomyosin bundles (stress fibers). Myosin II inhibition does not suppress formation of focal complexes but blocks their conversion into mature FAs and further FA growth. Application of external pulling force promotes FA growth even under conditions when myosin II activity is blocked. Thus, individual FAs behave as mechanosensors responding to the application of force by directional assembly. We proposed a thermodynamic model for the mechanosensitivity of FAs, taking into account that an elastic molecular aggregate subject to pulling forces tends to grow in the direction of force application by incorporating additional subunits. This simple model can explain a variety of processes typical of FA behavior. Assembly of FAs is triggered by the small G-protein Rho via activation of two major targets, Rho-associated kinase (ROCK) and the formin homology protein, Dia1. ROCK controls creation of myosin II-driven forces, while Dia1 is involved in the response of FAs to these forces. Expression of the active form of Dia1, allows the external force-induced assembly of mature FAs, even in conditions when Rho is inhibited. Conversely, downregulation of Dia1 by siRNA prevents FA maturation even if Rho is activated. Dia1 and other formins cap barbed (fast growing) ends of actin filaments, allowing insertion of the new actin monomers. We suggested a novel mechanism of such "leaky" capping based on an assumption of elasticity of the formin/barbed end complex. Our model predicts that formin-mediated actin polymerization should be greatly enhanced by application of external pulling force. Thus, the formin-actin complex

  18. Assembly and mechanosensory function of focal adhesions: experiments and models.

    PubMed

    Bershadsky, Alexander D; Ballestrem, Christoph; Carramusa, Letizia; Zilberman, Yuliya; Gilquin, Benoit; Khochbin, Saadi; Alexandrova, Antonina Y; Verkhovsky, Alexander B; Shemesh, Tom; Kozlov, Michael M

    2006-04-01

    Initial integrin-mediated cell-matrix adhesions (focal complexes) appear underneath the lamellipodia, in the regions of the "fast" centripetal flow driven by actin polymerization. Once formed, these adhesions convert the flow behind them into a "slow", myosin II-driven mode. Some focal complexes then turn into elongated focal adhesions (FAs) associated with contractile actomyosin bundles (stress fibers). Myosin II inhibition does not suppress formation of focal complexes but blocks their conversion into mature FAs and further FA growth. Application of external pulling force promotes FA growth even under conditions when myosin II activity is blocked. Thus, individual FAs behave as mechanosensors responding to the application of force by directional assembly. We proposed a thermodynamic model for the mechanosensitivity of FAs, taking into account that an elastic molecular aggregate subject to pulling forces tends to grow in the direction of force application by incorporating additional subunits. This simple model can explain a variety of processes typical of FA behavior. Assembly of FAs is triggered by the small G-protein Rho via activation of two major targets, Rho-associated kinase (ROCK) and the formin homology protein, Dia1. ROCK controls creation of myosin II-driven forces, while Dia1 is involved in the response of FAs to these forces. Expression of the active form of Dia1, allows the external force-induced assembly of mature FAs, even in conditions when Rho is inhibited. Conversely, downregulation of Dia1 by siRNA prevents FA maturation even if Rho is activated. Dia1 and other formins cap barbed (fast growing) ends of actin filaments, allowing insertion of the new actin monomers. We suggested a novel mechanism of such "leaky" capping based on an assumption of elasticity of the formin/barbed end complex. Our model predicts that formin-mediated actin polymerization should be greatly enhanced by application of external pulling force. Thus, the formin-actin complex

  19. Initiation, Propagation, and Termination of Partial (Focal) Seizures

    PubMed Central

    de Curtis, Marco; Avoli, Massimo

    2016-01-01

    The neurophysiological patterns that correlate with partial (focal) seizures are well defined in humans by standard electroencephalogram (EEG) and presurgical depth electrode recordings. Seizure patterns with similar features are reproduced in animal models of partial seizures and epilepsy. However, the network determinants that support interictal spikes, as well as the initiation, progression, and termination of seizures, are still elusive. Recent findings show that inhibitory networks are prominently involved at the onset of these seizures, and that extracellular changes in potassium contribute to initiate and sustain seizure progression. The end of a partial seizure correlates with an increase in network synchronization, which possibly involves both excitatory and inhibitory mechanisms. PMID:26134843

  20. Focal thinning of the cerebral cortex in multiple sclerosis.

    PubMed

    Sailer, Michael; Fischl, Bruce; Salat, David; Tempelmann, Claus; Schönfeld, Mircea Ariel; Busa, Evelina; Bodammer, Nils; Heinze, Hans-Jochen; Dale, Anders

    2003-08-01

    Brain atrophy as determined by quantitative MRI can be used to characterize disease progression in multiple sclerosis. Many studies have addressed white matter (WM) alterations leading to atrophy, while changes of the cerebral cortex have been studied to a lesser extent. In vivo, the cerebral cortex has been difficult to study due to its complex structure and regional variability. Measurement of cerebral cortex thickness at different disease stages may provide new insights into grey matter (GM) pathology. In the present investigation, we evaluated in vivo cortical thickness and its relationship to disability, disease duration, WM T2 hyper-intense and T1 hypo-intense lesion volumes. High-resolution MRI brain scans were obtained in 20 patients with clinically definite multiple sclerosis and 15 age-matched normal subjects. A novel method of automated surface reconstruction yielded measurements of the cortical thickness for each subject's entire brain and computed cross-subject statistics based on the cortical anatomy. Statistical thickness difference maps were generated by performing t-tests between patient and control groups and individual thickness measures were submitted to analyses of variance to investigate the relationship between cortical thickness and clinical variables. The mean overall thickness of the cortical ribbon was reduced in multiple sclerosis patients compared with controls [2.30 mm (SD 0.14) versus 2.48 mm (SD 0.11)], showing a significant main effect of group (controls versus patients). In patients, we found significant main effects for disability, disease duration, T2 and T1 lesion volumes. The visualization of statistical difference maps of the cortical GM thickness on inflated brains across the cortical surface revealed a distinct distribution of significant focal thinning of the cerebral cortex in addition to the diffuse cortical atrophy. Focal cortical thinning in frontal [2.37 mm (SD 0.17) versus 2.73 mm (SD 0.25)] and in temporal [2.65 mm

  1. Laser beacon wave-front sensing without focal anisoplanatism.

    PubMed

    Buscher, D F; Love, G D; Myers, R M

    2002-02-01

    Wave-front sensing from artificial beacons is normally performed by formation of a focused spot in the atmosphere and sensing of the wave-front distortions produced during the beam's return passage. We propose an alternative method that senses the distortions produced during the outgoing path by forming an intensity pattern in the atmosphere that is then viewed from the ground. A key advantage of this method is that a parallel beam is used, and therefore the wave-front measurements will not suffer from the effects of focal anisoplanatism. We also envisage other geometries, all based on the concept of projecting a pupil pattern onto the atmosphere.

  2. Focal cemento-osseous dysplasia masquerading as a residual cyst.

    PubMed

    Bhandari, Rajat; Sandhu, Simarpreet V; Bansal, Himanta; Behl, Rashi; Bhullar, Ramanpreet Kaur

    2012-04-01

    Focal cemento-osseous dysplasia (FCOD) is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  3. Dendron avidity platforms with orthogonal focal point coupling site

    NASA Astrophysics Data System (ADS)

    McNerny, Daniel Quinn

    This thesis explores the design and synthesis of bifunctional or modular platforms from poly(amidoamine) (PAMAM) dendrons. PAMAM dendrons with an orthogonal focal point are evaluated, testing several click chemistry reactions for high conversion and mild conditions. The orthogonal reaction chemistry used at the dendron focal point gives a precise 1:1 ratio of the attachment of multiple functionalities to a small molecular weight, chemically stable high avidity molecule. In the first component of the thesis, dendrons were synthesized with c(RGDyK) peptide on the surface to create a scaffold for cellular targeting and multivalent binding. Binary dendron-RGD conjugates were synthesized with a single imaging agent, therapeutic drug, or additional functionalized dendron at the focal point after a copper(I)-catalyzed alkyne-azide cycloaddition (CuAAC) click reaction. The targeted-dendron platform was shown to specifically target alphaVbeta3 integrin expressing human umbilical vein endothelial cells (HUVEC) and human glioblastoma cells (U87MG) in vitro via flow cytometry. Specific targeting of the dendron-RGD platform was further confirmed by confocal microscopy. Biological activity of the targeted drug conjugate was confirmed via XTT assay. The remainder of the thesis explores click chemistry reactions that do not require a metal catalyst, which may cause undesired toxicity for some biological applications. Thiol-based click chemistry, specifically the thiol-ene and thiol-yne reactions, is explored on dendron platforms. The thiol click reactions provide an improved efficiency, compared to CuAAC, by reaching quantitative conversion of the focal point in most cases. The thiol click reactions suffer from some setbacks: the need for a thermal or photoinitiator may prevent the conjugation of some functional ligands and the thiol chemistry is more prone to side reactions. Finally, strain-promoted alkyne-azide cycloadditions are examined. The ring-strain click chemistry

  4. Focal contacts as mechanosensors: externally applied local mechanical force induces growth of focal contacts by an mDia1-dependent and ROCK-independent mechanism.

    PubMed

    Riveline, D; Zamir, E; Balaban, N Q; Schwarz, U S; Ishizaki, T; Narumiya, S; Kam, Z; Geiger, B; Bershadsky, A D

    2001-06-11

    The transition of cell-matrix adhesions from the initial punctate focal complexes into the mature elongated form, known as focal contacts, requires GTPase Rho activity. In particular, activation of myosin II-driven contractility by a Rho target known as Rho-associated kinase (ROCK) was shown to be essential for focal contact formation. To dissect the mechanism of Rho-dependent induction of focal contacts and to elucidate the role of cell contractility, we applied mechanical force to vinculin-containing dot-like adhesions at the cell edge using a micropipette. Local centripetal pulling led to local assembly and elongation of these structures and to their development into streak-like focal contacts, as revealed by the dynamics of green fluorescent protein-tagged vinculin or paxillin and interference reflection microscopy. Inhibition of Rho activity by C3 transferase suppressed this force-induced focal contact formation. However, constitutively active mutants of another Rho target, the formin homology protein mDia1 (Watanabe, N., T. Kato, A. Fujita, T. Ishizaki, and S. Narumiya. 1999. Nat. Cell Biol. 1:136-143), were sufficient to restore force-induced focal contact formation in C3 transferase-treated cells. Force-induced formation of the focal contacts still occurred in cells subjected to myosin II and ROCK inhibition. Thus, as long as mDia1 is active, external tension force bypasses the requirement for ROCK-mediated myosin II contractility in the induction of focal contacts. Our experiments show that integrin-containing focal complexes behave as individual mechanosensors exhibiting directional assembly in response to local force. PMID:11402062

  5. Targeting the palm: a leap forward toward treatment of keratin disorders.

    PubMed

    Roth, Wera; Hatzfeld, Mechthild; Magin, Thomas M

    2012-06-01

    Any rational therapy benefits from an understanding of basic biology and the simplicity of its strategy. Among keratinopathies, epidermolytic palmoplantar keratoderma stands out by virtue of hotspot mutations in the KRT9 gene, exclusively expressed in the palmoplantar epidermis. In this issue, Leslie Pedrioli et al. report on the successful application of KRT9-specific siRNAs in cultured cells and in a mouse model. The study beautifully illustrates the potency of a thorough experimental approach and the challenges that remain, especially in its delivery.

  6. Basic mechanisms leading to focal emphysema in coal workers' pneumoconiosis

    SciTech Connect

    Rom, W.N. )

    1990-10-01

    Coal miners develop focal emphysema characterized by dilatation of second- and third-order respiratory bronchioles with coal mine dust-laden macrophages infiltrating the wall. A reticulin network with small amounts of collagen and atrophy of smooth muscle occurs. To evaluate the mechanisms of lung injury associated with this lesion, 17 long-term non- or ex-smoking West Virginia underground coal miners underwent bronchoalveolar lavage (BAL) and were compared to healthy nonsmoker and smoker controls. The coal miners had evidence of an alveolar macrophage-neutrophil alveolitis with a significant increase in neutrophils/microliter of epithelial lining fluid and an increased gallium lung scan index (206 +/- 26 units). Alveolar macrophages lavaged from coal miners spontaneously released exaggerated amounts of superoxide anion and hydrogen peroxide in vitro compared to nonsmoking controls. Coal workers had significantly elevated levels of neutrophil elastase in BAL fluid complexed with alpha 1-antitrypsin (P less than 0.01) and normal levels of alpha 1-antitrypsin. An accumulation of activated, dust-laden inflammatory cells with increased release of oxidants and elastase may contribute to the development of focal emphysema identified at postmortem in miners with coal workers' pneumoconiosis.

  7. Nonuniformity compensation for IR focal plane array sensors

    NASA Astrophysics Data System (ADS)

    Venkateswarlu, Ronda; Er, Meng H.; Gan, Yu H.; Fong, Yew C.

    1997-08-01

    Recent reports indicate that cooled and uncooled IR focal plane array sensors are progressing to a field-worthy level for commercial and defense applications. They offer higher sensitivity, amenability to signal processing and mechanical simplicity. However these sensors contain large detector-to- detector dark current (offset) and responsivity (gain) variations. These variations result in a severe problem called fixed pattern noise that can mask/distort the image obtained from the sensor. The correction process is generally termed as nonuniformity compensation. Conventional two-point compensation techniques are accurate enough, but require built-in controllable temperature references along with mechanical and electro-optical shutters. Therefore this compensation technique detracts the mechanical simplicity of using IR focal plane arrays. Scene-based nonuniformity techniques dispenses with the requirement of temperature references and shutters, but are not accurate enough for certain applications. This paper discusses two-point and scene-based nonuniformity compensation algorithms and proposes an empirical formula to automatically calculate the scene constants, which is an essential step towards practical applications. This paper reports the analyzed results of testing the algorithms on a number of IR images. A practical problem of 'artifacts' which arise when using scene-based nonuniformity compensation is also discussed. A common hardware scheme to implement both the algorithms is also presented in this paper.

  8. High operating temperature interband cascade focal plane arrays

    SciTech Connect

    Tian, Z.-B.; Godoy, S. E.; Kim, H. S.; Schuler-Sandy, T.; Montoya, J. A.; Krishna, S.

    2014-08-04

    In this paper, we report the initial demonstration of mid-infrared interband cascade (IC) photodetector focal plane arrays with multiple-stage/junction design. The merits of IC photodetectors include low noise and efficient photocarrier extraction, even for zero-bias operation. By adopting enhanced electron barrier design and a total absorber thickness of 0.7 μm, the 5-stage IC detectors show very low dark current (1.10 × 10{sup −7} A/cm{sup 2} at −5 mV and 150 K). Even with un-optimized fabrication and standard commercial (mis-matched) read-out circuit technology, infrared images are obtained by the 320 × 256 IC focal plane array up to 180 K with f/2.3 optics. The minimum noise equivalent temperature difference of 28 mK is obtained at 120 K. These initial results indicate great potential of IC photodetectors, particularly for high operating temperature applications.

  9. Implications of the focal beam profile in serial femtosecond crystallography

    SciTech Connect

    Galli, Lorenzo; Chapman, Henry N.; Metcalf, Peter

    2015-05-12

    The photon density profile of an X-ray free-electron laser (XFEL) beam at the focal position is a critical parameter for serial femtosecond crystallography (SFX), but is difficult to measure because of the destructive power of the beam. A novel high intensity radiation induced phasing method (HIRIP) has been proposed as a general experimental approach for protein structure determination, but has proved to be sensitive to variations of the X-ray intensity, with uniform incident fluence desired for best performance. Here we show that experimental SFX data collected at the nano-focus chamber of the Coherent X-ray Imaging end-station at the Linac Coherent Light Source using crystals with a limited size distribution suggests an average profile of the X-ray beam that has a large variation of intensity. We propose a new method to improve the quality of high fluence data for HI-RIP, by identifying and removing diffraction patterns from crystals exposed to the low intensity region of the beam. The method requires crystals of average size comparable to the width of the focal spot.

  10. Zinc translocation accelerates infarction after mild transient focal ischemia.

    PubMed

    Lee, J-M; Zipfel, G J; Park, K H; He, Y Y; Hsu, C Y; Choi, D W

    2002-01-01

    Excess release of chelatable zinc (Zn(2+)) from central synaptic vesicles may contribute to the pathogenesis of selective neuronal cell death following transient forebrain ischemia, but a role in neurodegeneration after focal ischemia has not been defined. Adult male Long-Evans rats subjected to middle cerebral artery occlusion (MCAO) for 30 min followed by reperfusion developed delayed cerebral infarction reaching completion 3 days after the insult. One day after the insult, many degenerating cerebral neurons exhibited increased intracellular Zn(2+), and some labeled with the antibody against activated caspase-3. I.c.v. administration of the Zn(2+) chelator, EDTA saturated with equimolar Ca(2+) (CaEDTA), 15 min prior to ischemia attenuated subsequent Zn(2+) translocation into cortical neurons, and reduced infarct volume measured 3 days after ischemia. Although the protective effect of CaEDTA at this endpoint was substantial (about 70% infarct reduction), it was lost when insult severity was increased (from 30 to 60 min MCAO), or when infarct volume was measured at a much later time point (14 days instead of 3 days after ischemia). These data suggest that toxic Zn(2+) translocation, from presynaptic terminals to post-synaptic cell bodies, may accelerate the development of cerebral infarction following mild transient focal ischemia.

  11. Antenna coupled detectors for 2D staring focal plane arrays

    NASA Astrophysics Data System (ADS)

    Gritz, Michael A.; Kolasa, Borys; Lail, Brian; Burkholder, Robert; Chen, Leonard

    2013-06-01

    Millimeter-wave (mmW)/sub-mmW/THz region of the electro-magnetic spectrum enables imaging thru clothing and other obscurants such as fog, clouds, smoke, sand, and dust. Therefore considerable interest exists in developing low cost millimeter-wave imaging (MMWI) systems. Previous MMWI systems have evolved from crude mechanically scanned, single element receiver systems into very complex multiple receiver camera systems. Initial systems required many expensive mmW integrated-circuit low-noise amplifiers. In order to reduce the cost and complexity of the existing systems, attempts have been made to develop new mmW imaging sensors employing direct detection arrays. In this paper, we report on Raytheon's recent development of a unique focal plane array technology, which operates broadly from the mmW through the sub-mmW/THz region. Raytheon's innovative nano-antenna based detector enables low cost production of 2D staring mmW focal plane arrays (mmW FPA), which not only have equivalent sensitivity and performance to existing MMWI systems, but require no mechanical scanning.

  12. Human Neuroma-in-Continuity Contains Focal Deficits in Myelination.

    PubMed

    van Vliet, Arie C; Tannemaat, Martijn R; van Duinen, Sjoerd G; Verhaagen, Joost; Malessy, Martijn J A; De Winter, Fred

    2015-09-01

    Functional recovery does not occur in 10% of patients with neonatal brachial plexus palsy. In these patients, resection of a neuroma-in-continuity (NIC) and surgical nerve reconstruction are required. The formation of a NIC seems to prohibit functional recovery, but the underlying biologic mechanisms for this failure are poorly understood. We systematically analyzed a large series of NIC tissue samples from 17 neonatal and 3 adult patients using an array of immunohistochemical techniques. In a large proportion of patients (74%), the NIC contained multiple focal globular areas with markedly diminished myelination. These focal myelin deficits (FMDs) contain Schwann cells that enwrap axons in an apparently normal configuration but do not form myelin. Biomathematical analysis of a 2-cm neuroma predicted a higher-than-95% probability that an axon would encounter 10 FMDs. Axon segments in FMDs also had disturbed nodes of Ranvier (i.e., FMDs contained significantly fewer clustered Na(v)1.6 channels and decreased Caspr and ankyrin G). These observations indicate that axons in NIC course through multiple FMDs and that this may be the pathobiologic basis for conduction blocks in patients with neonatal brachial plexus palsy. These observations indicate the need for novel strategies to promote functional recovery after neonatal brachial plexus palsy by improving myelination in the NIC.

  13. Performance characterization of a PIAA complex focal plane mask

    NASA Astrophysics Data System (ADS)

    Newman, Kevin; Belikov, Ruslan; Guyon, Olivier; Pluzhnik, Eugene

    2015-01-01

    The Phase Induced Amplitude Apodization Complex Mask Coronagraph (PIAACMC) is an architecture for directly observing extrasolar planets, and can achieve performance near the theoretical limits for any direct-detection instrument. PIAACMC can be designed for centrally-obscured and segmented apertures, which is particularly useful for next-generation telescopes. The PIAACMC architecture includes aspheric PIAA optics, and a complex phase-shifting focal plane mask that provides a pi phase shift to a portion of the on-axis starlight. The phase-shifted starlight is forced to interfere destructively with the un-shifted starlight, causing the starlight to be eliminated, and allowing a region for high-contrast imaging near the star.The main challenge in designing the complex focal plane mask is to achieve deep contrast over a wide spectral band. Another challenge for the mask design is to avoid sharp features, which can be difficult to manufacture. We present a solution to the design challenge by dividing the mask into sections and optimizing the phase shift produced by each section. We also demonstrate a method to design the mask with a smooth profile. One remaining challenge is to measure the performance of the mask. We present a method to compute the phase profile of the mask based on measurements of the diffraction pattern. The computed phase profile is used to simulate the expected coronagraph performance.

  14. A model of task-specific focal dystonia.

    PubMed

    Altenmüller, Eckart; Müller, Dieter

    2013-12-01

    Task-specific focal dystonia is a task-specific movement disorder which manifests itself as a loss of voluntary motor control in extensively trained movements. The condition is most frequent in musicians. Until today, the aetiology of focal hand dystonia is not completely understood, but there is growing evidence for an abnormal cortical processing of sensory information, as well as degraded representation of motor functions. It was demonstrated that in the somatosensory cortex the topographical location of sensory inputs from individual fingers is corrupted. Occasionally, a change in sensory information of the hand may at least temporarily improve the condition. This phenomenon is called sensory trick. In this paper, we propose a model of encoding of sensory stimuli which could explain the task specificity of cortical representations of the fingers or other effectors in the context of dystonia. In the framework of this model a sensory stimulus is encoded as a signal vector of higher dimension. A part of its components directly represents the sensory stimulus, while the remaining components describe the context. This model does not only account for the task specificity, but may also explain some characteristics of the retraining process in this disorder.

  15. Prostate focused ultrasound focal therapy--imaging for the future.

    PubMed

    Rouvière, Olivier; Gelet, Albert; Crouzet, Sébastien; Chapelon, Jean-Yves

    2012-12-01

    Treatment of prostate cancer using high-intensity focused ultrasound (HIFU) focal therapy will become a reliable treatment option only if several conditions are fulfilled. These conditions concern patient selection, assessment of the tumour location and aggressiveness, evaluation of target tissue destruction, and detection of local recurrence or appearance of new tumours. Regarding patient selection, standard transrectal biopsies are not accurate enough and, although perineal template biopsies can detect tumours, they are invasive, expensive procedures, and there is a risk of incidental detection of insignificant cancers. In turn, multiparametric MRI is accurate for detecting and localizing high-grade (Gleason score ≥7) cancers and may provide non-invasive assessment of tumour aggressiveness. Moreover, contrast-enhanced imaging-ultrasonography or MRI-can assess post-HIFU tissue destruction and provide accurate detection of tumour recurrence, which is a key element for follow up. This Perspectives article will assess whether our current methods for cancer diagnosis, tissue targeting, and treatment follow up are accurate enough to allow the design of robust HIFU focal therapy protocols.

  16. Ambient and focal visual processing of naturalistic activity.

    PubMed

    Eisenberg, Michelle L; Zacks, Jeffrey M

    2016-01-01

    When people inspect a picture, they progress through two distinct phases of visual processing: an ambient, or exploratory, phase that emphasizes input from peripheral vision and rapid acquisition of low-frequency information, followed by a focal phase that emphasizes central vision, salient objects, and high-frequency information. Does this qualitative shift occur during dynamic scene viewing? If so, when? One possibility is that shifts to exploratory processing are triggered at subjective event boundaries. This shift would be adaptive, because event boundaries typically occur when activity features change and when activity becomes unpredictable. Here, we used a perceptual event segmentation task, in which people identified boundaries between meaningful units of activity, to test this hypothesis. In two studies, an eye tracker recorded eye movements and pupil size while participants first watched movies of actors engaged in everyday activities and then segmented them into meaningful events. Saccade amplitudes and fixation durations during the initial viewings suggest that event boundaries function much like the onset of a new picture during static picture presentation: Viewers initiate an ambient processing phase and then progress to focal viewing as the event progresses. These studies suggest that this shift in processing mode could play a role in the formation of mental representations of the current environment. PMID:27002550

  17. Brain polyphosphoinositide metabolism during focal ischemia in rat cortex

    SciTech Connect

    Lin, T.N.; Liu, T.H.; Xu, J.; Hsu, C.Y.; Sun, G.Y. )

    1991-04-01

    Using a rat model of stroke, we examined the effects of focal cerebral ischemia on the metabolism of polyphosphoinositides by injecting {sup 32}Pi into both the left and right cortices. After equilibration of the label for 2-3 hours, ischemia induced a significant decrease (p less than 0.001) in the concentrations of labeled phosphatidyl 4,5-bisphosphates (66-78%) and phosphatidylinositol 4-phosphate (64-67%) in the right middle cerebral artery cortex of four rats. The phospholipid labeling pattern in the left middle cerebral artery cortex, which sustained only mild ischemia and no permanent tissue damage, was not different from that of two sham-operated controls. However, when {sup 32}Pi was injected 1 hour after the ischemic insult, there was a significant decrease (p less than 0.01) in the incorporation of label into the phospholipids in both cortices of four ischemic rats compared with four sham-operated controls. Furthermore, differences in the phospholipid labeling pattern were observed in the left cortex compared with the sham-operated controls. The change in labeling pattern was attributed to the partial reduction in blood flow following ligation of the common carotid arteries. We provide a sensitive procedure for probing the effects of focal cerebral ischemia on the polyphosphoinositide signaling pathway in the brain, which may play an important role in the pathogenesis of tissue injury.

  18. Changes in Neurofilament and Microtubule Distribution following Focal Axon Compression

    PubMed Central

    Fournier, Adam J.; Hogan, James D.; Rajbhandari, Labchan; Shrestha, Shiva; Venkatesan, Arun; Ramesh, K. T.

    2015-01-01

    Although a number of cytoskeletal derangements have been described in the setting of traumatic axonal injury (TAI), little is known of early structural changes that may serve to initiate a cascade of further axonal degeneration. Recent work by the authors has examined conformational changes in cytoskeletal constituents of neuronal axons undergoing traumatic axonal injury (TAI) following focal compression through confocal imaging data taken in vitro and in situ. The present study uses electron microscopy to understand and quantify in vitro alterations in the ultrastructural composition of microtubules and neurofilaments within neuronal axons of rats following focal compression. Standard transmission electron microscopy processing methods are used to identify microtubules, while neurofilament identification is performed using antibody labeling through gold nanoparticles. The number, density, and spacing of microtubules and neurofilaments are quantified for specimens in sham Control and Crushed groups with fixation at <1min following load. Our results indicate that the axon caliber dependency known to exist for microtubule and neurofilament metrics extends to axons undergoing TAI, with the exception of neurofilament spacing, which appears to remain constant across all Crushed axon diameters. Confidence interval comparisons between Control and Crushed cytoskeletal measures suggests early changes in the neurofilament spatial distributions within axons undergoing TAI may precede microtubule changes in response to applied loads. This may serve as a trigger for further secondary damage to the axon, representing a key insight into the temporal aspects of cytoskeletal degeneration at the component level, and suggests the rapid removal of neurofilament sidearms as one possible mechanism. PMID:26111004

  19. Abnormal sensorimotor processing in pianists with focal dystonia.

    PubMed

    Lim, Vanessa K; Bradshaw, John L; Nicholls, Michael E; Altenmüller, Eckart

    2004-01-01

    Focal dystonia is a task-specific sensorimotor disorder that is characterized by sustained muscle contractions, which may cause twisting, repetitive movements, or abnormal postures. In the current study, the contingent negative variation was recorded in a group of professional pianists with focal dystonia (musicians' cramp) and compared to pianist controls. The CNV is composed of an early stimulus processing component and a later response preparation component. The CNV can be elicited in tasks that require movement and nonmovement. A subtractive analysis with a nonmovement condition was used to minimize effects of the CNV not related to response preparation. The current results revealed no group differences for the early CNV (processing of stimulus properties). In contrast, a significant group difference was found in the late CNV (movement preparation) between patients and controls, with the patients showing significantly higher activation prior to movement. The current study demonstrates an increase in overall sensorimotor activity prior to movement in patients with musicians' cramp. This overexcitation of the cortex may be the result of a dysfunction in the globus pallidus, resulting in a lack of inhibition and/or an increase in excitation.

  20. Integrin activation and focal complex formation in cardiac hypertrophy

    NASA Technical Reports Server (NTRS)

    Laser, M.; Willey, C. D.; Jiang, W.; Cooper, G. 4th; Menick, D. R.; Zile, M. R.; Kuppuswamy, D.

    2000-01-01

    Cardiac hypertrophy is characterized by both remodeling of the extracellular matrix (ECM) and hypertrophic growth of the cardiocytes. Here we show increased expression and cytoskeletal association of the ECM proteins fibronectin and vitronectin in pressure-overloaded feline myocardium. These changes are accompanied by cytoskeletal binding and phosphorylation of focal adhesion kinase (FAK) at Tyr-397 and Tyr-925, c-Src at Tyr-416, recruitment of the adapter proteins p130(Cas), Shc, and Nck, and activation of the extracellular-regulated kinases ERK1/2. A synthetic peptide containing the Arg-Gly-Asp (RGD) motif of fibronectin and vitronectin was used to stimulate adult feline cardiomyocytes cultured on laminin or within a type-I collagen matrix. Whereas cardiocytes under both conditions showed RGD-stimulated ERK1/2 activation, only collagen-embedded cells exhibited cytoskeletal assembly of FAK, c-Src, Nck, and Shc. In RGD-stimulated collagen-embedded cells, FAK was phosphorylated only at Tyr-397 and c-Src association occurred without Tyr-416 phosphorylation and p130(Cas) association. Therefore, c-Src activation is not required for its cytoskeletal binding but may be important for additional phosphorylation of FAK. Overall, our study suggests that multiple signaling pathways originate in pressure-overloaded heart following integrin engagement with ECM proteins, including focal complex formation and ERK1/2 activation, and many of these pathways can be activated in cardiomyocytes via RGD-stimulated integrin activation.

  1. Application of cooled IR focal plane arrays in thermographic cameras

    NASA Astrophysics Data System (ADS)

    Vollheim, B.; Gaertner, M.; Dammass, G.; Krausz, M.

    2016-05-01

    The usage of cooled IR Focal Plane Array detectors in thermographic or radiometric thermal imaging cameras, respectively, leads to special demands on these detectors, which are discussed in this paper. For a radiometric calibration of wide temperature measuring ranges from -40 up to 2,000 °C, a linear and time-stable response of the photodiode array has to be ensured for low as well as high radiation intensities. The maximum detectable photon flux is limited by the allowed shift of the photodiode's bias that should remain in the linear part of the photodiode's I(V) curve even for the highest photocurrent. This limits the measurable highest object temperature in practice earlier than the minimum possible integration time. Higher temperature measuring ranges are realized by means of neutral or spectral filters. Defense and Security applications normally provide images at the given ambient temperature with small hot spots. The usage of radiometric thermal imagers for thermography often feature larger objects with a high temperature contrast to the background. This should not generate artifacts in the image, like pixel patterns or stripes. Further issues concern the clock regime or the sub-frame capabilities of the Read-Out-Circuit and the frame rate dependency of the signal. We will briefly describe the demands on the lens design for thermal imaging cameras when using cooled IR Focal Plane Array detectors with large apertures.

  2. Curved Focal Plane Wide Field of View Telescope Design

    NASA Astrophysics Data System (ADS)

    Grayson, Timothy P.

    2002-12-01

    Ground-based surveillance of deep space has traditionally been the purview of optical telescope systems. Unlike their imaging counterparts, space surveillance telescopes emphasize wide field of view (FOV) over resolution, permitted the most rapid survey of the entire sky. At the same time there is a constant push to detect ever fainter objects, such as small pieces of space debris or small, distant asteroids. Unfortunately increased sensitivity requires very large aperture diameters, which when combined with the requirement for wide FOV results in very fast f/# telescopes. How far this set of requirements can be expanded is typically limited by large, complex, and costly corrector optics to flatten the wavefront. An alternative approach is to design the telescope to a curved focal plane. This is an approach that was once taken with film, but it has not been feasible with electronic focal plane arrays (FPA). A major break-through in FPA design may open up a new range of telescope design options. A new array fabrication technique now provides the ability to produce FPAs with a specified degree of curvature while preserving required electro-optical characteristics. This paper presents a design for a new space surveillance telescope utilizing these curved FPAs.

  3. Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism.

    PubMed

    Kim, Ye Sel; Park, Jihyung; Park, Yoonkyung; Hwang, KyoungJin; Koo, Dae Lim; Kim, Daeyoung; Seo, Dae-Won

    2016-06-01

    Patients with chronic parathyroid dysfunction often have intracranial calcification in deep gray matter (GM) and subcortical white matter (WM) of their brain. Some of them are also epilepsy patients. Although cortical etiologies are main cause of epileptic seizure, cortical calcification has not been reported in these patients. We report a newly diagnosed focal epilepsy patient whose brain magnetic resonance imaging revealed intracranial calcifications in cortical as well as subcortical areas. Blood lab revealed that he had hypocalcemia due to pseudohypoparathyroidism. Video EEG monitoring revealed the ictal EEG mainly consist of polymorphic delta to theta waves with maximum at right temporal area followed by background attenuation and muscle artifacts. The interictal EEG showed multiple focal spike-wave discharges. After given oral calcium and calcitriol supplement, his calcium and phosphorous level normalized and he remains seizure free. This is the first case to show cortical calcification in a patient with pseudohypoparathyroidism. Cortical calcification could be an important measure of seizure burden in these patients and thus sophisticated imaging protocols should be used to visualize the extent of calcium deposits. PMID:27390678

  4. Infrared focal plane array modeling for aerospace and automotive applications

    NASA Astrophysics Data System (ADS)

    Durand, Alain; de Borniol, Eric; Guerineau, Nicolas; Cathala, Thierry; Yon, Jean-Jacques; Ouvrier-Buffet, Jean-Louis; Castelein, Pierre; Tronel, Robert; Bisotto, Sylvette; Destefanis, Gerard L.; Chamonal, Jean-Paul

    2004-08-01

    To simulate an Enhanced Vision System (EVS), CEA/LETI Infrared Laboratory has developed two behavioural models of infrared focal plane arrays : one in the Short Wave IR and the other in the Long Wave IR band. These Infrared Focal Plane Arrays (IRFPAs) models will be implemented on simulation platform aimed at evaluating the impact and use of infrared sensors in automotive and aeronautic applications. To be realistic, model parameters are extracted from electro-optical characterization of real components. The SWIR detector is calibrated with a 320x256 HgCdTe cooled FPA component from SOFRADIR, and the LWIR one with an uncooled micro-bolometer array from ULIS (a_Si technology from LETI). The flexibility of the models allows to simulate cameras based on these components and to forecast future ones based on different read-out circuit or detector technologies. In this paper we present the IRFPAs models, the main electro-optical characterization results and we compare some experimental measurements with simulations.

  5. Focal gap junction uncoupling and spontaneous ventricular ectopy.

    PubMed

    Gutstein, David E; Danik, Stephan B; Lewitton, Steve; France, David; Liu, Fangyu; Chen, Franklin L; Zhang, Jie; Ghodsi, Newsha; Morley, Gregory E; Fishman, Glenn I

    2005-09-01

    Genetic studies in the mouse have demonstrated that conditional cardiac-restricted loss of connexin43 (Cx43), the major ventricular gap junction protein, is highly arrhythmogenic. However, whether more focal gap junction remodeling, as is commonly seen in acquired cardiomyopathies, influences the propensity for arrhythmogenesis is not known. We examined electrophysiological properties and the frequency of spontaneous and inducible arrhythmias in genetically engineered chimeric mice derived from injection of Cx43-deficient embryonic stem cells into wild-type recipient blastocysts. Chimeric mice had numerous well-circumscribed microscopic Cx43-negative foci in their hearts, comprising approximately 15% of the total surface area as determined by immunohistochemical analysis. Systolic function in the chimeric mice was significantly depressed as measured echocardiographically (19.0% decline in fractional shortening compared with controls, P < 0.05) and by invasive hemodynamics (17.6% reduction in change of pressure over time, P < 0.01). Chimeras had significantly more spontaneous arrhythmic events than controls (P < 0.01), including frequent runs of nonsustained ventricular tachycardia in some of the chimeric mice. However, in contrast to mice with conditional cardiac-resricted loss of Cx43 in the heart, no sustained ventricular tachyarrhythmias were observed. We conclude that focal areas of uncoupling in the myocardium increase the likelihood of arrhythmic triggers, but more widespread uncoupling is required to support sustained arrhythmias. PMID:15894579

  6. Focal gap junction uncoupling and spontaneous ventricular ectopy

    PubMed Central

    Gutstein, David E.; Danik, Stephan B.; Lewitton, Steve; France, David; Liu, Fangyu; Chen, Franklin L.; Zhang, Jie; Ghodsi, Newsha; Morley, Gregory E.; Fishman, Glenn I.

    2009-01-01

    Genetic studies in the mouse have demonstrated that conditional cardiac-restricted loss of connexin43 (Cx43), the major ventricular gap junction protein, is highly arrhythmogenic. However, whether more focal gap junction remodeling, as is commonly seen in acquired cardiomyopathies, influences the propensity for arrhythmogenesis is not known. We examined electrophysiological properties and the frequency of spontaneous and inducible arrhythmias in genetically engineered chimeric mice derived from injection of Cx43-deficient embryonic stem cells into wild-type recipient blastocysts. Chimeric mice had numerous well-circumscribed microscopic Cx43-negative foci in their hearts, comprising ~15% of the total surface area as determined by immunohistochemical analysis. Systolic function in the chimeric mice was significantly depressed as measured echocardiographically (19.0% decline in fractional shortening compared with controls, P < 0.05) and by invasive hemodynamics (17.6% reduction in change of pressure over time, P < 0.01). Chimeras had significantly more spontaneous arrhythmic events than controls (P < 0.01), including frequent runs of nonsustained ventricular tachycardia in some of the chimeric mice. However, in contrast to mice with conditional cardiac-resticted loss of Cx43 in the heart, no sustained ventricular tachyarrhythmias were observed. We conclude that focal areas of uncoupling in the myocardium increase the likelihood of arrhythmic triggers, but more widespread uncoupling is required to support sustained arrhythmias. PMID:15894579

  7. Focal accumulation of defences at sites of fungal pathogen attack

    PubMed Central

    Underwood, William; Somerville, Shauna C.

    2008-01-01

    Plants resist attack by haustorium-forming biotrophic and hemi-biotrophic fungi through fortification of the cell wall to prevent penetration through the wall and the subsequent establishment of haustorial feeding structures by the fungus. While the existence of cell wall-based defences has been known for many years, only recently have the molecular components contributing to such defences been identified. Forward genetic screens identified Arabidopsis mutants impaired in penetration resistance to powdery mildew fungi that were normally halted at the cell wall. Several loci contributing to penetration resistance have been identified and a common feature is the striking focal accumulation of proteins associated with penetration resistance at sites of interaction with fungal appressoria and penetration pegs. The focal accumulation of defence-related proteins and the deposition of cell wall reinforcements at sites of attempted fungal penetration represent an example of cell polarization and raise many questions of relevance, not only to plant pathology but also to general cell biology. PMID:18703493

  8. Focal liver lesions: Practical magnetic resonance imaging approach

    PubMed Central

    Matos, António P; Velloni, Fernanda; Ramalho, Miguel; AlObaidy, Mamdoh; Rajapaksha, Aruna; Semelka, Richard C

    2015-01-01

    With the widespread of cross-sectional imaging, a growth of incidentally detected focal liver lesions (FLL) has been observed. A reliable detection and characterization of FLL is critical for optimal patient management. Maximizing accuracy of imaging in the context of FLL is paramount in avoiding unnecessary biopsies, which may result in post-procedural complications. A tremendous development of new imaging techniques has taken place during these last years. Nowadays, Magnetic resonance imaging (MRI) plays a key role in management of liver lesions, using a radiation-free technique and a safe contrast agent profile. MRI plays a key role in the non-invasive correct characterization of FLL. MRI is capable of providing comprehensive and highly accurate diagnostic information, with the additional advantage of lack of harmful ionizing radiation. These properties make MRI the mainstay for the noninvasive evaluation of focal liver lesions. In this paper we review the state-of-the-art MRI liver protocol, briefly discussing different sequence types, the unique characteristics of imaging non-cooperative patients and discuss the role of hepatocyte-specific contrast agents. A review of the imaging features of the most common benign and malignant FLL is presented, supplemented by a schematic representation of a simplistic practical approach on MRI. PMID:26261689

  9. Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism

    PubMed Central

    Kim, Ye Sel; Park, Jihyung; Park, Yoonkyung; Hwang, KyoungJin; Koo, Dae Lim; Kim, Daeyoung; Seo, Dae-Won

    2016-01-01

    Patients with chronic parathyroid dysfunction often have intracranial calcification in deep gray matter (GM) and subcortical white matter (WM) of their brain. Some of them are also epilepsy patients. Although cortical etiologies are main cause of epileptic seizure, cortical calcification has not been reported in these patients. We report a newly diagnosed focal epilepsy patient whose brain magnetic resonance imaging revealed intracranial calcifications in cortical as well as subcortical areas. Blood lab revealed that he had hypocalcemia due to pseudohypoparathyroidism. Video EEG monitoring revealed the ictal EEG mainly consist of polymorphic delta to theta waves with maximum at right temporal area followed by background attenuation and muscle artifacts. The interictal EEG showed multiple focal spike-wave discharges. After given oral calcium and calcitriol supplement, his calcium and phosphorous level normalized and he remains seizure free. This is the first case to show cortical calcification in a patient with pseudohypoparathyroidism. Cortical calcification could be an important measure of seizure burden in these patients and thus sophisticated imaging protocols should be used to visualize the extent of calcium deposits. PMID:27390678

  10. Radiometric infrared focal plane array imaging system for thermographic applications

    NASA Technical Reports Server (NTRS)

    Esposito, B. J.; Mccafferty, N.; Brown, R.; Tower, J. R.; Kosonocky, W. F.

    1992-01-01

    This document describes research performed under the Radiometric Infrared Focal Plane Array Imaging System for Thermographic Applications contract. This research investigated the feasibility of using platinum silicide (PtSi) Schottky-barrier infrared focal plane arrays (IR FPAs) for NASA Langley's specific radiometric thermal imaging requirements. The initial goal of this design was to develop a high spatial resolution radiometer with an NETD of 1 percent of the temperature reading over the range of 0 to 250 C. The proposed camera design developed during this study and described in this report provides: (1) high spatial resolution (full-TV resolution); (2) high thermal dynamic range (0 to 250 C); (3) the ability to image rapid, large thermal transients utilizing electronic exposure control (commandable dynamic range of 2,500,000:1 with exposure control latency of 33 ms); (4) high uniformity (0.5 percent nonuniformity after correction); and (5) high thermal resolution (0.1 C at 25 C background and 0.5 C at 250 C background).

  11. Unusual focal keratin expression in plexiform angiomyxoid myofibroblastic tumor

    PubMed Central

    Quero, Giuseppe; Musarra, Teresa; Carrato, Alfredo; Fici, Michelangelo; Martini, Maurizio; Dei Tos, Angelo Paolo; Alfieri, Sergio; Ricci, Riccardo

    2016-01-01

    Abstract Background: Plexiform angiomyxoid myofibroblastic tumor (PAMT), also known as plexiform fibromyxoma, is a rare distinctive benign intramural tumor, typical of gastric antrum, commonly causing mucosal ulceration with upper gastrointestinal bleeding and anemia, effectively treated by complete surgical resection usually accomplished by distal gastrectomy. Methods and Results: We herein report a 47-year-old man presenting with a syncopal episode, regurgitation and epigastric discomfort, bearing a gastric antral myxoid plexiform tumor positive for α-smooth muscle actin, vimentin and, partially, for caldesmon, desmin, and CD10; CD117, DOG1, CD34, S100, CAM5.2, CK20, CK7, EMA, p53, CDX2, chromogranin A, synaptophysin, anaplastic lymphoma kinase, Melan-A, and HMB-45 were all negative. All these features are typical of PAMT. Of note, focal positivity for AE1/AE3 and pan-CK KL1 was also present. Conclusions: The finding of a focal keratin expression in PAMT contributes to enlarge the immunophenotypic spectrum of this tumor type and is relevant for avoiding presurgical misdiagnoses which could ultimately lead to inappropriate overtreatment of patients with PAMT. PMID:27428222

  12. Positive focal shift of gallium nitride high contrast grating focusing reflectors

    NASA Astrophysics Data System (ADS)

    He, Shumin; Wang, Zhenhai; Liu, Qifa

    2016-09-01

    We design a type of metasurfaces capable of serving as a visible-light focusing reflector based on gallium nitride (GaN) high contrast gratings (HCGs). The wavefront of the reflected light is precisely manipulated by spatial variation of the grating periods along the subwavelength ridge array to achieve light focusing. Different from conventional negative focal shift effect, a positive focal shift is observed in such focusing reflectors. Detailed investigations of the influence of device size on the focusing performance, especially the focal length, are preformed via a finite element method . The results show that all performance parameters are greatly affected by the reflector size. A more concentrated focal point, or a better focusing capability, can be achieved by larger size. With increasing reflector size, the achieved focal length decreases and gradually approaches to the design, thus the corresponding positive focal shift decreases. Our results are helpful for understanding the visible-light control of the planar HCG-based focusing reflectors.

  13. Friction coefficient of faults inferred from earthquake focal mechanisms

    NASA Astrophysics Data System (ADS)

    Viganò, Alfio; Ranalli, Giorgio; Andreis, Daniele; Martin, Silvana; Rigon, Riccardo

    2013-04-01

    In earthquake mechanics and structural geology the static friction coefficient is usually assumed to have the laboratory value (μ = 0.6-0.8) according to the Coulomb-Byerlee's law. Estimates from deep boreholes and/or natural faults generally confirm this hypothesis but in some cases friction coefficients can be significantly lower, suggesting the existence of weak faults able to be activated by lower effective stress than theoretically expected. We apply a modified version of the method proposed by Yin and Ranalli (1995, Journal of Structural Geology, vol. 17, pp. 1327-1335), where the average friction coefficient of a set of n faults is estimated. This method is based on minimization of the sum of squares of the misfit ratios, where the misfit ratio of each fault is given dividing the misfit stress difference (i.e. the misfit between normalized stress difference and average normalized stress difference) by the average normalized stress difference. The normalized stress difference is defined as the critical stress difference divided by the effective overburden pressure, while the average stress difference is obtained considering the entire fault dataset. Input data are (i) the orientation of faults, (ii) the stress field orientation, and (iii) the stress ratio. The latter two must be independently estimated. A uniform stress field and a similar normalized critical stress difference for the fault dataset are assumed. The procedure has been extended to apply to fault plane solutions by considering both nodal planes of a set of n focal mechanisms and estimating the range of acceptable average friction coefficients from all possible combination of planes (2n number of combinations). The amount of calculation can be considerably reduced if independent information makes it possible to select which one of the nodal planes of each focal mechanism is the true fault plane (for example when aftershocks delineate the fault geometry at depth), resulting in only n combinations

  14. [Neuropsychological development in children with focal brain injury].

    PubMed

    Masi, G; Marcheschi, M; Brovedani, P; Pfanner, P

    1993-06-01

    The study of children with focal brain injury has important implications from a clinical and theoretical perspective. Clinical data on children with congenital or early acquired lesions indicates that the cognitive sequelae are different from those resulting from similar damage sustained in adulthood. These differences depend in part on the differential effect that damage has on ongoing developmental process and in part on the different recovery capacity of the Central Nervous System of the child. From a theoretical perspective, focal lesion data is important for analyzing the issues of early neuropsychological functioning (especially in terms of early hemispheric specialization) and of plasticity and recovery of function of the CNS. This review analyzes the possible causes of this heterogeneity, that seems in part dependent on the interindividual variability of early neuropsychological organization and in part related to methodological factors such subject inclusion criteria and nature of neuropsychological measures. The review also discusses the role during development of the principal inter and intrahemispheric recovery mechanisms (special attention is given to intrahemispheric mechanisms which have been considered in the past as less determinant with respect to interhemispheric mechanisms). Furthermore, the role of lesion side as a prognostic parameter is discussed, specifically in terms of the evidence of a differential recovery capacity of left hemisphere with respect to the right. Various hypotheses have been put forward as possible interpretations of these data (maturational gradient, different neuropsychological organization of the two hemispheres), yet evidence is still controversial. If one considers the prognostic parameter--age of lesion onset--recent evidence does not confirm the hypothesis that the earlier the lesion, the greatest the recovery of function. Rather, it seems that relating age of lesion onset to other parameters, such as lesion side or

  15. Mid-Wave and Long-Wave Infrared Dualband Megapixel QWIP Focal Plane Array

    NASA Technical Reports Server (NTRS)

    Gunapala, S. D.; Bandara, S. V.; Liu, J. K.; Mumolo, J. M.; Hill, C. J.; Ting, D. Z.; Kurth, E.; Woolaway, J.; LeVan, P. D.; Tidrow, M. Z.

    2008-01-01

    Mid-wavelength infrared (MWIR) and long-wavelength infrared (LWIR) 1024x1024 pixel InGaAs/GaAs/AlGaAs based quantum well infrared photodetector (QWIP) focal planes and a 320x256 pixel dual-band pixel co-registered simultaneous QWIP focal plane array have been demonstrated as pathfinders. In this paper, we discuss the development of 1024x1024 MWIR/LWIR dual-band pixel co-registered simultaneous QWIP focal plane array.

  16. Induction of focal adhesions and motility in Drosophila S2 cells.

    PubMed

    Ribeiro, Susana A; D'Ambrosio, Michael V; Vale, Ronald D

    2014-12-01

    Focal adhesions are dynamic structures that interact with the extracellular matrix on the cell exterior and actin filaments on the cell interior, enabling cells to adhere and crawl along surfaces. We describe a system for inducing the formation of focal adhesions in normally non-ECM-adherent, nonmotile Drosophila S2 cells. These focal adhesions contain the expected molecular markers such as talin, vinculin, and p130Cas, and they require talin for their formation. The S2 cells with induced focal adhesions also display a nonpolarized form of motility on vitronectin-coated substrates. Consistent with findings in mammalian cells, the degree of motility can be tuned by changing the stiffness of the substrate and was increased after the depletion of PAK3, a p21-activated kinase. A subset of nonmotile, nonpolarized cells also exhibited focal adhesions that rapidly assembled and disassembled around the cell perimeter. Such cooperative and dynamic fluctuations of focal adhesions were decreased by RNA interference (RNAi) depletion of myosin II and focal adhesion kinase, suggesting that this behavior requires force and focal adhesion maturation. These results demonstrate that S2 cells, a cell line that is well studied for cytoskeletal dynamics and readily amenable to protein manipulation by RNAi, can be used to study the assembly and dynamics of focal adhesions and mechanosensitive cell motility.

  17. Future directions in focal-plane signal processing for space-borne scientific imagers

    NASA Astrophysics Data System (ADS)

    Fossum, Eric R.

    1991-11-01

    The potential of focal-plane signal processing for space-borne scientific imagers is discussed. Significant improvement in image quality and consequent scientific return may be enabled through the utilization of focal-plane signal processing techniques. The possible application of focal-plane signal processing to readout noise reduction, cosmic ray circumvention, non-uniformity correction, and throughput enhancement is described. On-focal-plane analog-to-digital (A/D) conversion and micromotion stabilization are also discussed. It is the intention of this paper to stimulate further thought and efforts in this field.

  18. Calculation of focal positions in an optical head using a four-beam laser diode

    NASA Astrophysics Data System (ADS)

    Shinoda, Masahisa; Kime, Kenjiro

    1998-10-01

    Calculation method for focal positions in a multi-beam optical head using a multi-beam laser diode is introduced. In this calculation model, focal positions were so calculated that a light source of each laser beam with a specific source height and an astigmatic difference was imaged by optical lenses and a beam shaping prism. Calculated results show that four focal positions are located each other with defocus along the optical axis due to the curvature of field of lenses. Astigmatic differences in focal spots caused by the laser diode characteristics can be decreased by almost zero with a displacement of a collimator lens along the optical axis.

  19. Experimental realization of a metamaterial detector focal plane array.

    PubMed

    Shrekenhamer, David; Xu, Wangren; Venkatesh, Suresh; Schurig, David; Sonkusale, Sameer; Padilla, Willie J

    2012-10-26

    We present a metamaterial absorber detector array that enables room-temperature, narrow-band detection of gigahertz (GHz) radiation in the S band (2-4 GHz). The system is implemented in a commercial printed circuit board process and we characterize the detector sensitivity and angular dependence. A modified metamaterial absorber geometry allows for each unit cell to act as an isolated detector pixel and to collectively form a focal plane array . Each pixel can have a dedicated microwave receiver chain and functions together as a hybrid device tuned to maximize the efficiency of detected power. The demonstrated subwavelength pixel shows detected sensitivity of -77 dBm, corresponding to a radiation power density of 27 nW/m(2), with pixel to pixel coupling interference below -14 dB at 2.5 GHz.

  20. Calibration methods for division-of-focal-plane polarimeters.

    PubMed

    Powell, S Bear; Gruev, Viktor

    2013-09-01

    Division-of-focal plane (DoFP) imaging polarimeters are useful instruments for measuring polarization information for a variety of applications. Recent advances in nanofabrication have enabled the practical manufacture of DoFP sensors for the visible spectrum. These sensors are made by integrating nanowire polarization filters directly with an imaging array, and size variations of the nanowires due to fabrication can cause the optical properties of the filters to vary up to 20% across the imaging array. If left unchecked, these variations introduce significant errors when reconstructing the polarization image. Calibration methods offer a means to correct these errors. This work evaluates a scalar and matrix calibration derived from a mathematical model of the polarimeter behavior. The methods are evaluated quantitatively with an existing DoFP polarimeter under varying illumination intensity and angle of linear polarization. PMID:24103976

  1. Uniformity compensation for high-quantum-efficiency focal plane arrays

    NASA Astrophysics Data System (ADS)

    Horman, Stephen R.; Zurasky, Matthew W.; Talamonti, James J.; Hepfer, Kenneth C.

    1997-08-01

    NSWCDD has developed a new nonuniformity correction (NUC) technique that has been demonstrated to significantly reduce both fixed pattern and temporal noise in sensors using high quantum efficiency (QE) infrared (IR) staring focal plane arrays (FPA). Sensors using this technique have been shown to have good response in every pixel, i.e., there are no dead or anomalously noisy pixels anywhere in the field of view (FOV). This technique will also enable development of sensors with very small apertures as well as those which can dynamically trade off sensitivity, resolution and frame rate. In addition, effective yield of detector production will be enhanced, since these benefits can be obtained using arrays that would be rejected for most applications, were conventional NUC used. This technique has been demonstrated to work as specified through analysis of real time data. A high performance, concept demonstration sensor, is in the final stages of acceptance testing, with delivery planned for April 1997.

  2. Fixed Pattern Noise Compensation Techniques For Staring Infrared Focal Planes

    NASA Astrophysics Data System (ADS)

    Carrison, C. L.; Foss, N. A.

    1980-10-01

    To utilize the full performance advantages of staring infrared imaging systems currently under development, it is necessary to compensate for the characteristic fixed pattern "noise" which is present at the output from these infrared focal planes. Since many of the applications for staring sensor systems require low power dissipation configurations, it is necessary to develop automatic nonuniformity compensation electronics which have much lower power dissipation requirements than conventional digital compensation techniques. This paper discusses the sources of the nonuniformities and describes the typical characteristics of elevated temperature staring arrays. An analysis is given which shows how detector/charge-coupled device electrical coupling techniques strongly influence the compensation implementation, and finally a review of circuit configurations for the compensation function will be given which shows that very low power dissipation circuitry can be developed which meets the performance power dissipation requirements.

  3. Uniformity compensation for high-quantum-efficiency focal plane arrays

    NASA Astrophysics Data System (ADS)

    Horman, Stephen R.; Hepfer, Kenneth C.; Zurasky, Matthew W.

    1996-06-01

    NSWCDD has developed a new nonuniformity correction (NUC) technique that promises to significantly reduce both fixed pattern and temporal noise in sensors using high quantum efficiency (QE) infrared (IR) staring focal plane arrays (FPA). Sensors using this technique will also have good response in every pixel. There will be no dead or anomalously noisy pixels anywhere in the field of view (FOV). This technique will also enable development of sensors with very small apertures as well as those which can dynamically trade off sensitivity, resolution and frame rate. In addition, effective yield of detector production will be enhanced, since these benefits can be obtained using arrays that would be rejected for most applications, were conventional NUC used. This technique has been demonstrated to work as claimed through non-real time post-processing of field data. A high performance, concept demonstration sensor, is being developed, with delivery planned for August 1996.

  4. Thrombin exacerbates brain edema in focal cerebral ischemia.

    PubMed

    Hua, Y; Wu, J; Keep, R F; Hoff, J T; Xi, G

    2003-01-01

    Thrombin contributes to edema formation after intracerebral hemorrhage. Recent studies suggest that thrombin may also play a role in ischemic brain damage. In the present study, adult male Sprague-Dawley rats were anesthetized with pentobarbital. Middle cerebral artery (MCA) was occluded using the suture method. We found that brain thrombin activity was elevated after permanent MCA occlusion as was prothrombin messenger RNA expression. Intracerebral injection of a thrombin inhibitor, hirudin, reduced neurological deficits following cerebral ischemia. In contrast, intracerebral administration of exogenous thrombin (at a dose that is non-toxic to normal brain), markedly exacerbated brain edema after transient focal cerebral ischemia. These results indicate that extravascular thrombin inhibition may be a new therapeutic target for cerebral ischemia.

  5. Probing anterior segment kinetics with focally applied mydriatics.

    PubMed

    Wyatt, H J; Lustgarten, M

    2001-10-01

    The purpose of this study was to examine the effects of convectional flow and anterior segment configuration on drug kinetics. Mydriatics were applied focally at the limbus in order to produce sector dilation of the pupil. Subjects were tested with either tropicamide or phenylephrine, applied at the superior, temporal, inferior, or nasal limbus (or as a conventional drop). Changes in pupil form were analyzed by means of photography, digitization, and circular Fourier series representation. Both tropicamide and phenylephrine were found to produce sector dilation; however, phenylephrine was approximately twice as effective. Applications at the superior limbus were significantly less effective than applications at the inferior limbus. The results are interpreted in terms of anterior segment convectional flow, which is believed to play a substantial role in pharmacokinetics of the anterior segment. PMID:11765151

  6. Focal para-hisian atrial tachycardia with dual exits

    PubMed Central

    Lawrance Jesuraj, M.; Sharada, K.; Sridevi, C.; Narasimhan, C.

    2013-01-01

    Focal atrial tachycardias (AT) in the right atrium (RA) tend to cluster around the crista terminalis, coronary sinus (CS) region, tricuspid annulus, and para-hisian region. In most cases, the AT focus can be identified by careful activation mapping, and completely eliminated by radiofrequency (RF) catheter ablation. However, RF ablation near the His bundle (HB) carries a risk of inadvertent damage to the atrioventricular (AV) conduction system. Here we describe a patient with an AT originating in the vicinity of the AV node, which was successfully ablated earlier from non-coronary aortic cusp (NCC), and recurred with an exit from para-hisian location. Respiratory excursions of the catheter were associated with migration to the area of HIs. This was successfully ablated during controlled apnoea, using 3D electroanatomic mapping. PMID:23993015

  7. Optical design of the Post Focal Relay of MAORY

    NASA Astrophysics Data System (ADS)

    Lombini, M.; Diolaiti, E.

    The Multi Conjugate Adaptive Optics Relay (MAORY) for the European Extremely Large Telescope shall re-image the telescope focal plane for the client instruments installed on two exit ports. By means of natural and artificial (laser) reference sources for wavefront sensing, and of deformable mirrors for wavefront correction, MAORY shall be able to compensate the wavefront disturbances affecting the scientific observations, achieving high Strehl ratio and high sky coverage. The optical interfaces to the client instruments must replicate the telescope one while the volume allocation on the Nasmyth platform is under definition at the moment of this writing. We show the latest version of the optical design that matches the current requests and its optical performance. The laser guide stars channel, separated from the science path by means of a dichroic beam-splitter, is also presented.

  8. MEG-based imaging of focal neuronal current sources.

    PubMed

    Phillips, J W; Leahy, R M; Mosher, J C

    1997-06-01

    We describe a new approach to imaging neural current sources from measurements of the magnetoencephalogram (MEG) associated with sensory, motor, or cognitive brain activation. Many previous approaches to this problem have concentrated on the use of weighted minimum norm (WMN) inverse methods. While these methods ensure a unique solution, they do not introduce information specific to the MEG inverse problem, often producing overly smoothed solutions and exhibiting severe sensitivity to noise. We describe a Bayesian formulation of the inverse problem in which a Gibbs prior is constructed to reflect the sparse focal nature of neural current sources associated with evoked response data. We demonstrate the method with simulated and experimental phantom data, comparing its performance with several WMN methods.

  9. Optical-based spectral modeling of infrared focal plane arrays

    NASA Astrophysics Data System (ADS)

    Mouzali, Salima; Lefebvre, Sidonie; Rommeluère, Sylvain; Ferrec, Yann; Primot, Jérôme

    2016-07-01

    We adopt an optical approach in order to model and predict the spectral signature of an infrared focal plane array. The modeling is based on a multilayer description of the structure and considers a one-dimensional propagation. It provides a better understanding of the physical phenomena occurring within the pixels, which is useful to perform radiometric measurements, as well as to reliably predict the spectral sensitivity of the detector. An exhaustive model is presented, covering the total spectral range of the pixel response. A heuristic model is also described, depicting a complementary approach that separates the different optical phenomena inside the pixel structure. Promising results are presented, validating the models through comparison with experimental results. Finally, advantages and limitations of this approach are discussed.

  10. Characterising the Kepler Survey Completeness: First Full Focal Plane Results

    NASA Astrophysics Data System (ADS)

    Christiansen, Jessie; Science Office, Kepler; Science Operations Center, Kepler

    2012-10-01

    The primary goal of the Kepler mission is to determine the frequency of Earth-size planets in the habitable zones of solar-like stars. The mission has published a growing catalogue of planet candidates, but there are two key attributes of the catalogue that we need to understand before we can determine the underlying planet population - the rate of false negatives (completeness) and the rate of false positives (reliability). I will discuss our efforts towards determining the completeness of the survey, in particular characterising the behaviour of the automated transit detection software. I will present results from the first characterisation of the software across the full focal plane. Kepler was selected as the 10th mission of the Discovery Program. Funding for this mission is provided by NASA’s Science Mission Directorate.

  11. Planck 2015 results. XII. Full focal plane simulations

    NASA Astrophysics Data System (ADS)

    Planck Collaboration; Ade, P. A. R.; Aghanim, N.; Arnaud, M.; Ashdown, M.; Aumont, J.; Baccigalupi, C.; Banday, A. J.; Barreiro, R. B.; Bartlett, J. G.; Bartolo, N.; Battaner, E.; Benabed, K.; Benoît, A.; Benoit-Lévy, A.; Bernard, J.-P.; Bersanelli, M.; Bielewicz, P.; Bock, J. J.; Bonaldi, A.; Bonavera, L.; Bond, J. R.; Borrill, J.; Bouchet, F. R.; Boulanger, F.; Bucher, M.; Burigana, C.; Butler, R. C.; Calabrese, E.; Cardoso, J.-F.; Castex, G.; Catalano, A.; Challinor, A.; Chamballu, A.; Chiang, H. C.; Christensen, P. R.; Clements, D. L.; Colombi, S.; Colombo, L. P. L.; Combet, C.; Couchot, F.; Coulais, A.; Crill, B. P.; Curto, A.; Cuttaia, F.; Danese, L.; Davies, R. D.; Davis, R. J.; de Bernardis, P.; de Rosa, A.; de Zotti, G.; Delabrouille, J.; Delouis, J.-M.; Désert, F.-X.; Dickinson, C.; Diego, J. M.; Dolag, K.; Dole, H.; Donzelli, S.; Doré, O.; Douspis, M.; Ducout, A.; Dupac, X.; Efstathiou, G.; Elsner, F.; Enßlin, T. A.; Eriksen, H. K.; Fergusson, J.; Finelli, F.; Forni, O.; Frailis, M.; Fraisse, A. A.; Franceschi, E.; Frejsel, A.; Galeotta, S.; Galli, S.; Ganga, K.; Ghosh, T.; Giard, M.; Giraud-Héraud, Y.; Gjerløw, E.; González-Nuevo, J.; Górski, K. M.; Gratton, S.; Gregorio, A.; Gruppuso, A.; Gudmundsson, J. E.; Hansen, F. K.; Hanson, D.; Harrison, D. L.; Henrot-Versillé, S.; Hernández-Monteagudo, C.; Herranz, D.; Hildebrandt, S. R.; Hivon, E.; Hobson, M.; Holmes, W. A.; Hornstrup, A.; Hovest, W.; Huffenberger, K. M.; Hurier, G.; Jaffe, A. H.; Jaffe, T. R.; Jones, W. C.; Juvela, M.; Karakci, A.; Keihänen, E.; Keskitalo, R.; Kiiveri, K.; Kisner, T. S.; Kneissl, R.; Knoche, J.; Kunz, M.; Kurki-Suonio, H.; Lagache, G.; Lamarre, J.-M.; Lasenby, A.; Lattanzi, M.; Lawrence, C. R.; Leonardi, R.; Lesgourgues, J.; Levrier, F.; Liguori, M.; Lilje, P. B.; Linden-Vørnle, M.; Lindholm, V.; López-Caniego, M.; Lubin, P. M.; Macías-Pérez, J. F.; Maggio, G.; Maino, D.; Mandolesi, N.; Mangilli, A.; Maris, M.; Martin, P. G.; Martínez-González, E.; Masi, S.; Matarrese, S.; McGehee, P.; Meinhold, P. R.; Melchiorri, A.; Melin, J.-B.; Mendes, L.; Mennella, A.; Migliaccio, M.; Mitra, S.; Miville-Deschênes, M.-A.; Moneti, A.; Montier, L.; Morgante, G.; Mortlock, D.; Moss, A.; Munshi, D.; Murphy, J. A.; Naselsky, P.; Nati, F.; Natoli, P.; Netterfield, C. B.; Nørgaard-Nielsen, H. U.; Noviello, F.; Novikov, D.; Novikov, I.; Oxborrow, C. A.; Paci, F.; Pagano, L.; Pajot, F.; Paoletti, D.; Pasian, F.; Patanchon, G.; Pearson, T. J.; Perdereau, O.; Perotto, L.; Perrotta, F.; Pettorino, V.; Piacentini, F.; Piat, M.; Pierpaoli, E.; Pietrobon, D.; Plaszczynski, S.; Pointecouteau, E.; Polenta, G.; Pratt, G. W.; Prézeau, G.; Prunet, S.; Puget, J.-L.; Rachen, J. P.; Rebolo, R.; Reinecke, M.; Remazeilles, M.; Renault, C.; Renzi, A.; Ristorcelli, I.; Rocha, G.; Roman, M.; Rosset, C.; Rossetti, M.; Roudier, G.; Rubiño-Martín, J. A.; Rusholme, B.; Sandri, M.; Santos, D.; Savelainen, M.; Scott, D.; Seiffert, M. D.; Shellard, E. P. S.; Spencer, L. D.; Stolyarov, V.; Stompor, R.; Sudiwala, R.; Sutton, D.; Suur-Uski, A.-S.; Sygnet, J.-F.; Tauber, J. A.; Terenzi, L.; Toffolatti, L.; Tomasi, M.; Tristram, M.; Tucci, M.; Tuovinen, J.; Valenziano, L.; Valiviita, J.; Van Tent, B.; Vielva, P.; Villa, F.; Wade, L. A.; Wandelt, B. D.; Wehus, I. K.; Welikala, N.; Yvon, D.; Zacchei, A.; Zonca, A.

    2016-09-01

    We present the 8th full focal plane simulation set (FFP8), deployed in support of the Planck 2015 results. FFP8 consists of 10 fiducial mission realizations reduced to 18 144 maps, together with the most massive suite of Monte Carlo realizations of instrument noise and CMB ever generated, comprising 104 mission realizations reduced to about 106 maps. The resulting maps incorporate the dominant instrumental, scanning, and data analysis effects, and the remaining subdominant effects will be included in future updates. Generated at a cost of some 25 million CPU-hours spread across multiple high-performance-computing (HPC) platforms, FFP8 is used to validate and verify analysis algorithms and their implementations, and to remove biases from and quantify uncertainties in the results of analyses of the real data.

  12. Focal segmental glomerulosclerosis recurrence in the renal allograft.

    PubMed

    Leca, Nicolae

    2014-09-01

    Focal segmental glomerulosclerosis (FSGS) represents a common histologic pattern of glomerular injury associated with a multitude of disease mechanisms. The etiology of FSGS is often classified into primary (idiopathic) and secondary forms in response to genetic abnormalities, infections, toxins, and systemic disorders that lead to adaptive changes, glomerular hyperfiltration, and proteinuria. Our understanding of the pathogenic mechanisms responsible for FSGS was substantially enhanced in recent years because of major advances in the cell biology of the podocyte and parietal epithelial cell. Recurrence of FSGS occurs mainly in its primary form and is only rarely described in secondary forms. The re-enactment of pathologic mechanisms of FSGS as recurrent disease after kidney transplantation represents a biologic experiment that can provide unique insight. Nonetheless, recurrent FSGS remains a notable clinical problem that correlates with poorer renal allograft outcomes. This is the focus of this particular review, concentrating on the most recent developments.

  13. Detection of human papillomavirus (HPV) DNA in focal epithelial hyperplasia.

    PubMed

    Garlick, J A; Calderon, S; Buchner, A; Mitrani-Rosenbaum, S

    1989-03-01

    Five focal epithelial hyperplasia (FEH) specimens from four patients were examined by Southern blot hybridization analysis to determine the specific human papillomavirus (HPV) types present. The histomorphologic features of these specimens were also evaluated and a broad variety of changes including koilocytes, mitosoid cells, ballooning cells and cells showing individual cell keratinization were noted. FEH lesions from the three patients sharing a familial relationship demonstrated HPV DNA sequences that were either the prototype HPV-13 or a very closely related HPV-13 subtype. These patients also showed similar clinical features. Lesional tissue from the other patient was found to harbor HPV DNA sequences similar to HPV-32. In view of these findings it is suggested that these specific HPV types are associated with the characteristic FEH histomorphology described.

  14. MEG-based imaging of focal neuronal current sources

    SciTech Connect

    Phillips, J.W.; Leahy, R.M.; Mosher, J.C.

    1996-07-01

    We describe a new approach to imaging neuronal current sources from measurements of the magnetoencephalogram (MEG) associated with sensory, motor, or cognitive brain activation. Previous approaches to this problem have concentrated on the use of weighted minimum norm inverse methods. While these methods ensure a unique solution, they do not introduce information specific to the MEG inverse problem, often producing overly smoothed solutions and exhibiting severe sensitivity to noise. We describe a Bayesian formulation of the inverse problem in which a Gibbs prior is constructed to reflect the sparse focal nature of neuronal current sources associated with evoked response data. The prior involves a binary process indicating active sources and a continuous Gaussian process designating associated amplitudes. An estimate of the primary current source distribution for a specific data set is formed by maximizing over the posterior probability with respect to the binary and continuous variables.

  15. MEG-based imaging of focal neuronal current sources

    SciTech Connect

    Phillips, J.W.; Leahy, R.M.; Mosher, J.C.

    1997-06-01

    The authors describe a new approach to imaging neural current sources from measurements of the magnetoencephalogram (MEG) associated with sensory, motor, or cognitive brain activation. Many previous approaches to this problem have concentrated on the use of weighted minimum norm (WMN) inverse methods. While these methods ensure a unique solution, they do not introduce information specific to the MEG inverse problem, often producing overly smoothed solutions and exhibiting severe sensitivity to noise. The authors describe a Bayesian formulation of the inverse problem in which a Gibbs prior is constructed to reflect the sparse focal nature of neural current sources associated with evoked response data. They demonstrate the method with simulated and experimental phantom data, comparing its performance with several WMN methods.

  16. Vision and Wide-Field Imagers with Curved Focal Planes

    NASA Astrophysics Data System (ADS)

    Arianpour, Ashkan

    This dissertation provides details regarding the implementation of curved-focal surface fiber coupled imaging for medical and wide-field applications. An optomechanical fluid-filled eye model with visual acuity better than 20/20 vision was design and characterized. A wearable telescopic contact lens was worn on the optomechanical eye model and the performance characterized. Measurements of the contact lens surfaces were modeled to quantify the impact of contact lens fabrication on end-result resolution. Separately, the limitations of the field of view in fiber coupled monocentric imaging are analyzed. This dissertation describes a novel technique to address this based on conformal micro-optics. The design, simulation, and fabrication of an embossed surface relief micro-prism that increases the field of view are demonstrated.

  17. Infrared focal plane detector modules for space applications at AIM

    NASA Astrophysics Data System (ADS)

    Hübner, Dominique; Hanna, Stefan; Thöt, Richard; Gassmann, Kai-Uwe; Haiml, Markus; Weber, Andreas; Haas, Luis-Dieter; Ziegler, Johann; Nothaft, Hans-Peter; Fick, Wolfgang

    2012-09-01

    In the framework of this paper, AIM presents the actual status of some of its currently ongoing focal plane detector module developments for space applications covering the spectral range from the short-wavelength infrared (SWIR) to the long-wavelength infrared (LWIR) and very-long-wavelength infrared (VLWIR), where both imaging and spectroscopy applications will be addressed. In particular, the integrated detector cooler assemblies for a mid-wavelength infrared (MWIR) push-broom imaging satellite mission, for the German hyperspectral satellite mission EnMAP will be elaborated. Additionally dedicated detector modules for LWIR/VLWIR sounding, providing the possibility to have two different PVs driven by one ROIC will be addressed.

  18. Magnetic Resonance Image-Guided Focal Prostate Ablation.

    PubMed

    Nour, Sherif G

    2016-09-01

    Prostate cancer is the most common cancer (other than skin cancer) in American men, with one in seven men being diagnosed with this disease during his lifetime. The estimated number of new prostate cancer cases in 2016 is 180,890. For the first time, imaging has become the center of the search for contained, intraglandular, small-volume, and unifocal disease, and an increasing number of academic institutions as well as private practices are implementing programs for prostate multiplanar magnetic resonance imaging (MRI) as parts of their routine offerings. This article reviews the role of MRI-guided focal prostate ablation, as well as opportunities for further growth in this minimally invasive therapy of prostate cancer. PMID:27582608

  19. Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue.

    PubMed

    del Carmen Boente, María; Asial, Raúl A; Winik, Beatriz C

    2007-02-01

    We followed over 10 years three girls with focal dermal hypoplasia syndrome. The histopathological changes demonstrated at the optical level an hypoplastic dermis with thin and scarce collagen bundles and a marked diminution of elastic fibers. Mature adipose tissue was found scattered within the papillary and reticular dermis. No alterations in the basal membrane were observed by immunocytochemical or ultrastructural techniques. Ultrastructurally, in the skin-affected areas, loosely arranged collagen bundles composed of few fibrils were seen scattered in the extracellular matrix. Scarce elastic fibers of normal morphology were also observed. Fibroblasts were smaller, oval-shaped, and diminished in number with a poorly developed cytoplasm. In these fibroblasts, the most conspicuous feature was a remarkable and irregular thickening of the nuclear fibrous lamina. Taking into account that a common link between all laminopaties may be a failure of stem cells to regenerate mesenchymal tissue, this failure would induce the dermal hypoplasia observed in our patients presenting Goltz syndrome.

  20. Focal surfaces of offset dual-reflector antennas

    NASA Technical Reports Server (NTRS)

    Sletten, C. J.; Shore, R. A.

    1982-01-01

    An analytical technique is described for finding the best focal surfaces for offset-fed dual-reflector antennas. A ray tracing procedure traces the loci of rays incident on the main reflector onto a plane or 'screen' situated perpendicular to a central ray of the antenna system. Given, then, by computer graphics, the best feed locations for azimuth and elevation plane patterns, an aperture diffraction method is used which can compute the sidelobe levels and beamwidths resulting from aperture phase errors on scanned or multibeam patterns. High-magnification Cassegrain or Gregorian antennas, with tilt angles optimised according to Japanese criteria, produce excellent radiation diagrams many beamwidths from the central, unaberrated pattern direction.

  1. Strained layer superlattice focal plane array having a planar structure

    DOEpatents

    Kim, Jin K; Carroll, Malcolm S; Gin, Aaron; Marsh, Phillip F; Young, Erik W; Cich, Michael J

    2012-10-23

    An infrared focal plane array (FPA) is disclosed which utilizes a strained-layer superlattice (SLS) formed of alternating layers of InAs and In.sub.xGa.sub.1-xSb with 0.ltoreq.x.ltoreq.0.5 epitaxially grown on a GaSb substrate. The FPA avoids the use of a mesa structure to isolate each photodetector element and instead uses impurity-doped regions formed in or about each photodetector for electrical isolation. This results in a substantially-planar structure in which the SLS is unbroken across the entire width of a 2-D array of the photodetector elements which are capped with an epitaxially-grown passivation layer to reduce or eliminate surface recombination. The FPA has applications for use in the wavelength range of 3-25 .mu.m.

  2. Large area III-V infrared focal planes

    NASA Astrophysics Data System (ADS)

    Gunapala, S. D.; Ting, D. Z.; Hill, C. J.; Nguyen, J.; Soibel, A.; Rafol, S. B.; Keo, S. A.; Mumolo, J. M.; Lee, M. C.; Liu, J. K.; Yang, B.; Liao, A.

    2011-05-01

    Jet Propulsion Laboratory is actively developing the III-V based infrared detector and focal plane arrays (FPAs) for remote sensing and imaging applications. Currently, we are working on Superlattice detectors, multi-band quantum well infrared photodetectors (QWIPs), and quantum dot infrared photodetector (QDIPs) technologies suitable for high pixel-pixel uniformity and high pixel operability large area imaging arrays. In this paper, we will discuss the demonstration of long-wavelength 1 K × 1 K QDIP FPA, 1 K × 1K QWIP FPA, the first demonstration of the megapixel-simultaneously-readable and pixel-co-registered dual-band QWIP FPA, and demonstration of the first mid-wave and long-wave 1K × 1K superlattice FPA. In addition, we will discuss the advantages of III-V material system in the context of large format infrared FPAs.

  3. Third-generation intelligent IR focal plane arrays

    NASA Astrophysics Data System (ADS)

    Caulfield, H. John; Jack, Michael D.; Pettijohn, Kevin L.; Schlesselmann, John D.; Norworth, Joe

    1998-03-01

    SBRC is at the forefront of industry in developing IR focal plane arrays including multi-spectral technology and '3rd generation' functions that mimic the human eye. 3rd generation devices conduct advanced processing on or near the FPA that serve to reduce bandwidth while performing needed functions such as automatic target recognition, uniformity correction and dynamic range enhancement. These devices represent a solution for processing the exorbitantly high bandwidth coming off large area FPAs without sacrificing systems sensitivity. SBRC's two-color approach leverages the company's HgCdTe technology to provide simultaneous multiband coverage, from short through long wave IR, with near theoretical performance. IR systems that are sensitive to different spectral bands achieve enhanced capabilities for target identification and advanced discrimination. This paper will provide a summary of the issues, the technology and the benefits of SBRC's third generation smart and two-color FPAs.

  4. Integration of IR focal plane arrays with massively parallel processor

    NASA Astrophysics Data System (ADS)

    Esfandiari, P.; Koskey, P.; Vaccaro, K.; Buchwald, W.; Clark, F.; Krejca, B.; Rekeczky, C.; Zarandy, A.

    2008-04-01

    The intent of this investigation is to replace the low fill factor visible sensor of a Cellular Neural Network (CNN) processor with an InGaAs Focal Plane Array (FPA) using both bump bonding and epitaxial layer transfer techniques for use in the Ballistic Missile Defense System (BMDS) interceptor seekers. The goal is to fabricate a massively parallel digital processor with a local as well as a global interconnect architecture. Currently, this unique CNN processor is capable of processing a target scene in excess of 10,000 frames per second with its visible sensor. What makes the CNN processor so unique is that each processing element includes memory, local data storage, local and global communication devices and a visible sensor supported by a programmable analog or digital computer program.

  5. Mediastinal and retroperitoneal teratoma with focal gastrointestinal adenocarcinoma.

    PubMed

    Chang, Y-L; Wu, C-T; Lee, Y-C

    2006-09-01

    We report an unusual case of gastrointestinal adenocarcinoma arising in a giant posterior mediastinal mature cystic teratoma extending into the retroperitoneum, which was treated by complete excision with a good outcome for more than 2 years. Teratomas with malignant transformation are rare non-germ cell malignant tumors arising from a preexisting mature teratoma. Histological examination revealed that the cyst wall was composed of mature ectodermal, mesodermal, and endodermal elements. Neoplastic glands with a cribriform pattern were found in a small, solid nodule. Strong cytokeratin 20 cytoplasmic immunostaining of the tumor cells supported the diagnosis of gastrointestinal adenocarcinoma. In this report, we describe the potential aggressiveness of a giant mature cystic teratoma with adenocarcinoma and suggest that complete surgical resection without adjuvant chemotherapy be considered as a therapy in the treatment of teratoma with focal malignant transformation.

  6. Blocked impurity band hybrid infrared focal plane arrays for astronomy

    NASA Technical Reports Server (NTRS)

    Reynolds, D. B.; Seib, D. H.; Stetson, S. B.; Herter, T.; Rowlands, N.

    1989-01-01

    High-performance infrared hybrid focal plane arrays using 10- x 50-element Si:As blocked-impurity-band (BIB) detectors (cutoff wavelength = 28 microns) and matching switched MOSFET multiplexers have been developed and characterized for space astronomy. Use of impurity-band-conduction technology provides detectors which are nuclear-radiation-hard and free of the many anomalies associated with conventional silicon photoconductive detectors. Emphasis in the present work is on recent advances in detector material quality which have led to significantly improved detector and hybrid characteristics. Results demonstrating increased quantum efficiency (particularly at short-wavelength infrared), obtained by varying the BIB detector properties (infrared active layer thickness and arsenic doping profile), are summarized. Measured read noise and dark current for different temperatures are reported. The hybrid array performance achieved demonstrates that BIB detectors are well suited for use in astronomical instrumentation.

  7. Nanotopographical modification: a regulator of cellular function through focal adhesions

    PubMed Central

    Biggs, Manus Jonathan Paul; Richards, R. Geoff; Dalby, Matthew J.

    2010-01-01

    As materials technology and the field of biomedical engineering advances, the role of cellular mechanisms, in particular adhesive interactions with implantable devices, becomes more relevant in both research and clinical practice. A key tenet of medical device design has evolved from the exquisite ability of biological systems to respond to topographical features or chemical stimuli, a process that has led to the development of next-generation biomaterials for a wide variety of clinical disorders. In vitro studies have identified nanoscale features as potent modulators of cellular behavior through the onset of focal adhesion formation. The focus of this review is on the recent developments concerning the role of nanoscale structures on integrin-mediated adhesion and cellular function with an emphasis on the generation of medical constructs with regenerative applications. PMID:20138244

  8. Direct simulation Monte Carlo method with a focal mechanism algorithm

    NASA Astrophysics Data System (ADS)

    Rachman, Asep Nur; Chung, Tae Woong; Yoshimoto, Kazuo; Yun, Sukyoung

    2015-01-01

    To simulate the observation of the radiation pattern of an earthquake, the direct simulation Monte Carlo (DSMC) method is modified by implanting a focal mechanism algorithm. We compare the results of the modified DSMC method (DSMC-2) with those of the original DSMC method (DSMC-1). DSMC-2 shows more or similarly reliable results compared to those of DSMC-1, for events with 12 or more recorded stations, by weighting twice for hypocentral distance of less than 80 km. Not only the number of stations, but also other factors such as rough topography, magnitude of event, and the analysis method influence the reliability of DSMC-2. The most reliable result by DSMC-2 is obtained by the best azimuthal coverage by the largest number of stations. The DSMC-2 method requires shorter time steps and a larger number of particles than those of DSMC-1 to capture a sufficient number of arrived particles in the small-sized receiver.

  9. Down-regulation in human cancers of DRHC, a novel helicase-like gene from 17q25.1 that inhibits cell growth.

    PubMed

    Nagai, H; Yabe, A; Mine, N; Mikami, I; Fujiwara, H; Terada, Y; Hirano, A; Tsuneizumi, M; Yokota, T; Emi, M

    2003-04-10

    Frequent observations of allelic loss in chromosomal band 17q25.1 in a variety of human cancers have suggested that one or more tumor suppressor genes are normally present in this region. Moreover, a locus responsible for hereditary focal non-epidermolytic palmoplantar keratoderma (tylosis oesophageal cancer; TOC), a condition associated with esophageal cancer, has been mapped to the same band. During efforts to sequence, by shot-gun methods, a 1 Mb target region that we had defined as the DNA segment harboring the putative tumor suppressor gene(s) involved in these events, we identified a novel cDNA, DRHC (down-regulated in human cancers), that showed reduced expression in 28 of 95 (29%) cell lines derived from a variety of human cancers. The full-length cDNA, 6275 bp long, was expressed predominantly in thymus and brain. The predicted 1942-amino-acid product exhibited significant sequence homology to yeast enzymes belonging to the DEAD-helicase superfamily, and appeared to be a Uvr/Rep helicase with a DEXDc consensus domain. Transfection of a DRHC expression vector inhibited growth of cancer cells in liquid medium or soft agar. The results suggest that loss of expression of DRHC may play a role in human carcinogenesis.

  10. Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene.

    PubMed

    Langan, Joanne E; Cole, Charlotte G; Huckle, Elisabeth J; Byrne, Shaun; McRonald, Fiona E; Rowbottom, Lynn; Ellis, Anthony; Shaw, Joan M; Leigh, Irene M; Kelsell, David P; Dunham, Ian; Field, John K; Risk, Janet M

    2004-05-01

    Tylosis (focal non-epidermolytic palmoplantar keratoderma) is associated with the early onset of squamous cell oesophageal cancer in three families. Linkage and haplotype analyses have previously mapped the tylosis with oesophageal cancer ( TOC) locus to a 500-kb region on chromosome 17q25 that has also been implicated in sporadically occurring squamous cell oesophageal cancer. In the current study, 17 additional putative microsatellite markers were identified within this 500-kb region by using sequence data and seven of these were shown to be polymorphic in the UK and US families. In addition, our complete sequence analysis of the non-repetitive parts of the TOC minimal region identified 53 novel and six known single nucleotide polymorphisms (SNPs) in one or both of these families. Further fine mapping of the TOC disease locus by haplotype analysis of the seven polymorphic markers and 21 of the 59 SNPs allowed the reduction of the minimal region to 42.5 kb. One known and two putative genes are located within this region but none of these genes shows tylosis-specific mutations within their protein-coding regions. Alternative mechanisms of disease gene action must therefore be considered.

  11. Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression.

    PubMed

    McRonald, Fiona E; Liloglou, Triantafillos; Xinarianos, George; Hill, Laura; Rowbottom, Lynn; Langan, Joanne E; Ellis, Anthony; Shaw, Joan M; Field, John K; Risk, Janet M

    2006-04-15

    Tylosis (focal non-epidermolytic palmoplantar keratoderma) is an autosomal dominant skin disorder that is associated with the early onset of squamous cell oesophageal cancer (SCOC) in three families. Our previous linkage and haplotype analyses have mapped the tylosis with oesophageal cancer (TOC) locus to a 42.5 kb region on chromosome 17q25 that has also been implicated in the aetiology of sporadically occurring SCOC from a number of different geographical populations. Oesophageal cancer is one of the 10 leading causes of cancer mortality worldwide. No inherited disease-causing mutations have been identified in the genes located in the 42.5 kb minimal region. We now show that cytoglobin gene expression in oesophageal biopsies from tylotic patients is dramatically reduced by approximately 70% compared with normal oesophagus. Furthermore, both alleles are equally repressed. Given the autosomal dominant nature of the disease, these results exclude haploinsufficiency as a mechanism of the disease and instead suggest a novel trans-allele interaction. We also show that the promoter is hypermethylated in sporadic oesophageal cancer samples: this may constitute the 'second hit' of a gene previously implicated in this disease by allelic imbalance studies.

  12. Down-regulation in multiple human cancers of a novel gene, DMHC, from 17q25.1 that encodes an integral membrane protein.

    PubMed

    Mikami, I; Harada, H; Nagai, H; Tsuneizumi, M; Nobe, Y; Koizumi, K; Sugano, S; Tanaka, S; Emi, M

    2001-04-01

    Frequent observations of allelic loss in chromosomal band 17q25.1 in a variety of human cancers have suggested that one or more tumor suppressor genes are present in that region. Moreover, a genetic locus for hereditary focal non-epidermolytic palmoplantar keratoderma, a condition associated with cancer of the esophagus (TOC; Tylosis with Oesophageal Cancer), lies in the same region. We screened cell lines derived from a variety of human cancers by reverse transcription-polymerase chain reaction (RT-PCR) to detect alterations in expression of genes within the region in question, by examining expressed sequence tags located there. These experiments identified an 1834-bp full-length cDNA encoding a novel, 441-amino acid integral membrane protein with seven putative transmembrane domains. This gene showed loss or extreme decrease of expression in 6 of 10 uterine cancer-cell lines, 2 of 11 hepatic cell carcinoma-cell lines, 2 of 7 lung cancer-cell lines, 1 of 6 gastric cancer-cell lines, and 1 of 10 breast cancer-cell lines. (We named it DMHC ("down-regulated in multiple human cancers").) Our results suggest that loss of expression of DMHC at 17q25.1 may play an important role in development of variety of human cancers.

  13. Biomechanical abnormalities in musicians with occupational cramp/focal dystonia.

    PubMed

    Wilson, F R; Wagner, C; Hömberg, V

    1993-01-01

    Occupational factors and peripheral injuries are frequently implicated in the development of hand cramps and the syndrome of persistent manual incoordination among musicians and others most commonly given a diagnosis of focal limb dystonia. In an attempt to gain insight into the character and influence of risk factors in the evolution of this disorder, the authors conducted detailed evaluations of 33 individuals who responded to a questionnaire sent to university- and conservatory-level music schools in Germany in September 1989. Response was invited from any musician with complaints of impaired hand control. Of the 33 individuals accepted for evaluation, 18 were musicians who met clinical criteria for the diagnosis of occupational cramp/focal dystonia (OC/FD). Nineteen of the original 33 subjects underwent a quantitative biochemical assessment, comparing active and passive ranges of motion at all joints below the shoulder with those for cohorts of unimpaired musicians, matched for gender and musical instrument. Of the 19 tested biomechanically, 14 had OC/FD and the remaining five had either persistent pain or nonspecific movement idiosyncracies interfering with playing. Compared with the matched groups of normals, no consistent biomechanical abnormality was found in the non-OC/FD group; in the OC/FD group two thirds had marked limitation of passive and/or active abduction range between the central digits of both hands. Based on detailed training and performance histories in these subjects, the authors conclude that a specific biomechanical condition in the hand can interfere with certain high-speed digital movements required in musical instrument performance. Unintended muscle synergies, postures, and movement patterns can develop as attempts are made to increase the speed and fluency of such movements. As rehearsal is intensified, degraded movements are stabilized ("programmed"). In this situation, OC/FD appears to represent an aberrant outcome of normal motor

  14. Requirement of focal adhesion kinase in branching tubulogenesis.

    PubMed

    Wei, Wei-Chun; Kopec, Anna K; Tang, Ming-Jer

    2009-01-01

    We previously demonstrated that alpha3beta1 integrins are essential to hepatocyte growth factor (HGF)-independent branching tubulogenesis in Mardin-Darby Canine Kidney (MDCK) cells. However, the involvement of integrin downstream signaling molecules remains unclear. In the present study, we successfully isolated cell lines possessing different tubulogenic potentials from the MDCK cells; cyst clones (CA4, CA6) forming cystic structures when cultured in 0.3% type I collagen gel and mass clones (M610, M611, M612) forming aggregated masses. Cyst clones maintained cystic structure in 0.1% collagen gel, whereas mass clones spontaneously developed into tubules. Both clones exhibited various morphologies when cultured on a dish: cyst clones formed aggregated islands, while mass clones were more scattered and exhibited higher migration capacity. Among several focal adhesion machinery proteins examined, only the expression and phosphorylation level of focal adhesion kinase (FAK) in mass clones was higher than in cyst clones, while other proteins showed no obvious differences. However, overexpression of wild type FAK in CA6 cells did not facilitate branching tubule formation in 0.1% collagen gel. Targeted decrease in the expression level of FAK in M610 cells with the application of antisense cDNA resulted in a marked reduction of branching tubule formation in 0.1% collagen gel and showed a down-regulation of fibronectin assembly, which is known to promote tubulogenesis. In contrast, overexpression of wild type FAK in CA6 cells had no effect on fibronectin assembly. Taken together, our data demonstrates that FAK is required, but not sufficient for HGF-independent branching tubulogenesis in MDCK cells. PMID:19272169

  15. Comparing Linkage Designs Based on Land Facets to Linkage Designs Based on Focal Species

    PubMed Central

    Brost, Brian M.; Beier, Paul

    2012-01-01

    Least-cost modeling for focal species is the most widely used method for designing conservation corridors and linkages. However, these designs depend on today's land covers, which will be altered by climate change. We recently proposed an alternative approach based on land facets (recurring landscape units of relatively uniform topography and soils). The rationale is that corridors with high continuity of individual land facets will facilitate movement of species associated with each facet today and in the future. Conservation practitioners might like to know whether a linkage design based on land facets is likely to provide continuity of modeled breeding habitat for species needing connectivity today, and whether a linkage for focal species provides continuity and interspersion of land facets. To address these questions, we compared linkages designed for focal species and land facets in three landscapes in Arizona, USA. We used two variables to measure linkage utility, namely distances between patches of modeled breeding habitat for 5–16 focal species in each linkage, and resistance profiles for focal species and land facets between patches connected by the linkage. Compared to focal species designs, linkage designs based on land facets provided as much or more modeled habitat connectivity for 25 of 28 species-landscape combinations, failing only for the three species with the most narrowly distributed habitat. Compared to land facets designs, focal species linkages provided lower connectivity for about half the land facets in two landscapes. In areas where a focal species approach to linkage design is not possible, our results suggest that conservation practitioners may be able to implement a land facets approach with some confidence that the linkage design would serve most potential focal species. In areas where focal species designs are possible, we recommend using the land facet approach to complement, rather than replace, focal species approaches. PMID

  16. A simple focal-length measurement technique for adaptive microlenses using z-scan

    NASA Astrophysics Data System (ADS)

    Abdelaziez, Yasser; Banerjee, Partha P.

    2004-10-01

    A simple technique for focal length measurements of adaptive micro-lenses using z-scan is reported. Focal length is one of the most important parameters of any lens. The effective focal length is measured with reference to the principal points that are not easy to find especially for micro-lenses. In addition, variable focal length microlenses pose a different challenge that makes the process of determining their exact focal length a tedious and difficult process. Classical methods such as nodal slide and magnification have been used for focal length determination. Also, advanced Interference techniques such as Talbot, Moire, Digital Speckle, Zygo and Joint Fourier Transform were used for focal length measurements. These techniques require more elaborate setups and difficult to implement, especially for microlenses. Recently a power meter was used to find the focal length of an unknown lens. Most of the techniques mentioned above proof to be not simple for microlens characterization. The z-scan technique has been implemented, for quite sometimes, to characterize the third-order effects of a nonlinear optical material. The z-scan provides information on both the sign and magnitude of the non-linear refractive index and offer advantage of simplicity. We have used a regular lens to collimate and focus light unto the lens under test. By scanning the lens under test and measuring the on-axis intensity, one can find the focal length. This is because the on-axis intensity is proportional to the phase of the lens and therefore the focal length. In the case of an adaptive lens with its focal length is a function of the applied voltage, the scanning occurs for each voltage value that will correspond to the on-axis refractive index change and therefore the far field on-axis intensity. This described technique above is easy to implement and can achieve good accuracy due to the inherent sensitivity of the z-scan.

  17. Blaschko Linear Enamel Defects – A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

    PubMed Central

    Gysin, Stefan; Itin, Peter

    2015-01-01

    Focal dermal hypoplasia (FDH) is a rare genetic skin disorder. The inheritance of FDH or Goltz-Gorlin syndrome is X-linked dominant and the disease is associated with a PORCN gene mutation. This gene plays a key role in the Wnt pathway, which has an impact on embryonic development. Every tissue derived from meso- and ectoderm can be affected. Patients suffer from cutaneous, ocular, osseous, oral and dental defects. The skin and dental alterations manifest along the Blaschko lines. We present a woman (born in 1962) suffering from FDH with congenital skin changes and Blaschko linear enamel defects. Typical symptoms (e.g. fat herniations, scoliosis, syndactyly, microphthalmia, caries and alopecia) plus vertical grooving of all teeth gave a first indication. Molecular genetic testing confirmed the definitive diagnosis of FDH. We hypothesize that, in the context of typical skin changes, visible Blaschko lines on the teeth in the form of vertical grooves are almost pathognomonic for FDH. PMID:26078738

  18. Evidence for an actin-containing cytoplasmic precursor of the focal contact and the timing of incorporation of vinculin at the focal contact

    PubMed Central

    1987-01-01

    The distribution of F-actin and vinculin in chicken embryo fibroblasts has been examined by nitrobenzoxadiazol (NBD)-phallacidin and indirect immunofluorescent staining, respectively, and related to the process of focal contact formation by recording the motility of the cell with differential interference contrast (DIC) or interference reflection microscopy (IRM) before fixation for staining. Linear cytoplasmic precursors of the focal contact, present within unattached lamellipodia, stained intensely with NBD-phallacidin. Without exception new focal contacts, 8 s and older at fixation, were associated with either a longer F-actin rib in the lamellipodium or, in older contacts, an F-actin structure of similar dimensions to the contact. This change in distribution of F-actin over the new contacts was accounted for by the segregation of the structural precursor into an attached part over the focal contact and a separate motile part. These results show that F- actin accumulates in the precursor adjacent to areas of the membrane competent to form the focal contact, and are consistent with the interpretation that this F-actin contributes to the initial adhesion plaque associated with the new contact. Vinculin was essentially absent from motile lamellipodia, showed no preferential association with F- actin rich precursors or very young focal contacts, but accumulated over new contacts during a 90-s period. Therefore, the association of F- actin with the membrane that precedes and persists in the initial focal contact is independent of vinculin, and the role of vinculin in development of the focal contact remains unclear. PMID:3121637

  19. [Chronic endemic regional hydroarsenicism. The manifestations of arsenic poisoning caused by drinking water].

    PubMed

    Grinspan, D; Biagini, R

    1985-01-01

    This report deals with endemic chronic arsenical intoxication (HACRE) observed in several provinces in Argentina. Similar reports come from Chili, Mexico, Brasil, Bolivia, Peru and Japan. HACRE patients show no systemic, symptoms and specific manifestations are palmoplantar keratoderma, multiple cutaneous epitheliomas, mainly Bowen-type and respiratory or digestive carcinomas. The authors emphasize that these specific manifestations of HACRE are worth knowing for their possible social incidence.

  20. Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.

    PubMed

    Esmer, Carmen; Salas-Alanis, Julio C; Fajardo-Ramirez, Oscar R; Ramírez, Brenda; Hua, Rong; Choate, Keith

    2016-01-01

    Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases.

  1. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder

    PubMed Central

    Shanker, Vinay; Gupta, Mudita

    2013-01-01

    Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia with a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 21 year old woman who had generalized reticulate pigmentation, diffuse noncicatricial alopecia and onychodystrophy of finger and toe nails. Along with this triad she had palmoplantar keratoderma and poorly developed dermatoglyphics. There was no evidence of involvement of other ectodermally derived organ. PMID:23440032

  2. Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.

    PubMed

    Esmer, Carmen; Salas-Alanis, Julio C; Fajardo-Ramirez, Oscar R; Ramírez, Brenda; Hua, Rong; Choate, Keith

    2016-01-01

    Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal outcome due to sepsis. The patient harbored the mutation A88V that has been previously reported in lethal cases. PMID:27409001

  3. Papillon-Lefevre syndrome with pseudoainhum

    PubMed Central

    Ashwani, P.; Swapna, K.; Rani, Sailaja M.; Reddy, B. S. N.

    2010-01-01

    An interesting episode of Papillon-Lefevre syndrome in a 25-year-old female with diffuse palmoplantar keratoderma, periodontitis and pseudoainhum of the toes is reported for academic interest. Her skin lesions improved with topical keratolytics and oral retinoid (acitretin) whereas periodontic problems showed significant improvement with systemic antibiotics and proper implementation of oral hygienic measures. She is undergoing oral rehabilitation with orthodontic surgical procedures. PMID:23130191

  4. Correlation between Focal Nodular Low Signal Changes in Hoffa's Fat Pad Adjacent to Anterior Femoral Cartilage and Focal Cartilage Defect Underlying This Region and Its Possible Implication

    PubMed Central

    Ng, Wuey Min

    2016-01-01

    Purpose. This study investigates the association between focal nodular mass with low signal in Hoffa's fat pad adjacent to anterior femoral cartilage of the knee (FNMHF) and focal cartilage abnormality in this region. Method. The magnetic resonance fast imaging employing steady-state acquisition sequence (MR FIESTA) sagittal and axial images of the B1 and C1 region (described later) of 148 patients were independently evaluated by two reviewers and categorized into four categories: normal, FNMHF with underlying focal cartilage abnormality, FNMHF with normal cartilage, and cartilage abnormality with no FNMHF. Results. There was a significant association (p = 0.00) between FNMHF and immediate adjacent focal cartilage abnormality with high interobserver agreement. The absence of focal nodular lesions next to the anterior femoral cartilage has a very high negative predictive value for chondral injury (97.8%). Synovial biopsy of focal nodular lesion done during arthroscopy revealed some fibrocollagenous tissue and no inflammatory cells. Conclusion. We postulate that the FNMHF adjacent to the cartilage defects is a form of normal healing response to the cartilage damage. One patient with FHMHF and underlying cartilage abnormality was rescanned six months later. In this patient, the FNMHF disappeared and normal cartilage was observed in the adjacent region which may support this theory. PMID:27213085

  5. Measurement of MODIS optics effective focal length, distortion, and modulation transfer function

    NASA Astrophysics Data System (ADS)

    Thurlow, Paul E.; Cline, Richard W.

    1993-08-01

    A combination MODIS optics characteristics, short back focal length, and relatively distorting optics, has required major revisions in techniques used earlier to characterize effective focal length (EFL) and modulation transfer function (MTF) in the thematic mapper (TM) project. This paper compares measurement approaches used to characterize TM optics and revised methodology intended to characterize MODIS optics at an integration and assembly level.

  6. A study on reducing of the focal spot size using spatial filtering and phase apodization

    NASA Astrophysics Data System (ADS)

    Savelyev, D.

    2016-08-01

    The resizing of focal spot using an annular diaphragm with phase jump in the scalar paraxial case was investigated numerically. Due to the apodization optical system, we succeeded in reducing the size of the focal spot in 2.3 times.

  7. ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions

    PubMed Central

    Cain, Stuart A.; Mularczyk, Ewa J.; Singh, Mukti; Massam-Wu, Teresa; Kielty, Cay M.

    2016-01-01

    ADAMTS10 and ADAMTS6 are homologous metalloproteinases with ill-defined roles. ADAMTS10 mutations cause Weill-Marchesani syndrome (WMS), implicating it in fibrillin microfibril biology since some fibrillin-1 mutations also cause WMS. However little is known about ADAMTS6 function. ADAMTS10 is resistant to furin cleavage, however we show that ADAMTS6 is effectively processed and active. Using siRNA, over-expression and mutagenesis, it was found ADAMTS6 inhibits and ADAMTS10 is required for focal adhesions, epithelial cell-cell junction formation, and microfibril deposition. Either knockdown of ADAMTS6, or disruption of its furin processing or catalytic sites restores focal adhesions, implicating its enzyme activity acts on targets in the focal adhesion complex. In ADAMTS10-depleted cultures, expression of syndecan-4 rescues focal adhesions and cell-cell junctions. Recombinant C-termini of ADAMTS10 and ADAMTS6, both of which induce focal adhesions, bind heparin and syndecan-4. However, cells overexpressing full-length ADAMTS6 lack heparan sulphate and focal adhesions, whilst depletion of ADAMTS6 induces a prominent glycocalyx. Thus ADAMTS10 and ADAMTS6 oppositely affect heparan sulphate-rich interfaces including focal adhesions. We previously showed that microfibril deposition requires fibronectin-induced focal adhesions, and cell-cell junctions in epithelial cultures. Here we reveal that ADAMTS6 causes a reduction in heparan sulphate-rich interfaces, and its expression is regulated by ADAMTS10. PMID:27779234

  8. Surgically intractable epilepsy associated with focal cortical dysplasia and congenital cutaneous hemangiomas.

    PubMed

    Brzezinski, Anna; Cruz, Vincent B; Prayson, Richard A

    2014-11-01

    We describe a 6-month-old girl with medically intractable seizures, multiple congenital hemangiomas, and developmental delay. The patient underwent two surgical resections. Pathological findings at both the first and second resections were consistent with focal cortical dysplasia. The literature was reviewed on focal cortical dysplasia associated with cutaneous hemangiomas.

  9. Fast focal zooming scheme for direct drive fusion implemented by inserting KD2PO4 crystal

    NASA Astrophysics Data System (ADS)

    Zhong, Zheqiang; Hu, Xiaochuan; Zhang, Bin

    2016-06-01

    The highly required uniformity of target in direct-drive fusion is difficult to achieve and maintain during the entire laser fusion implosion. To mitigate the increasing nonuniformity, the fast focal zooming scheme implemented by inserting an electro-optic (EO) crystal in the front end of beamline has been proposed. Functioning as a phase plate, the specifically designed EO crystal may add the induced spherical wavefront to the laser beam and alter its focusing characteristics. However, in order to zoom out the focal spot by half, the required voltage for KD2PO4 (DKDP) with single pair of electrodes is relatively high. In order to decrease the voltage while maintaining the zooming performance, the DKDP cylinder with multi pairs of electrodes has been presented. The continuous phase plate (CPP) is designed according to both the injected beam and the output field. However, the conventional CPP is designed based on the assumption of an injected beam without wavefront distortion, which would zoom in the focal spot variation in the focal zooming scheme. In order to zoom out the focal spot, a redesigned CPP has been proposed by adding a spherical wavefront to the phase variation of the conventional CPP and further optimizing. On the basis, the focusing characteristics of laser beam during the fast focal zooming process have been analyzed. Results indicate that the focal spot size decreases with the increasing voltage on DKDP crystal, meanwhile the uniformity maintains high during the focal zooming process.

  10. Focal shift for a gaussian beam by an aperture written in terms of matrix optics

    NASA Astrophysics Data System (ADS)

    Lu, Xuanhui; Wang, Shaomin; Ronchi, Laura

    1992-05-01

    The focal shift in a gaussian beam focussed by an optical system with an aperture is generalized by applying Collin's diffraction integral. By this implementation, the field distribution on axis is given. The method may be useful to determine the focal shift of a thin lens and of an optical focusing system as well.

  11. Crosstalk between focal adhesions and material mechanical properties governs cell mechanics and functions.

    PubMed

    Fusco, Sabato; Panzetta, Valeria; Embrione, Valerio; Netti, Paolo A

    2015-09-01

    Mechanical properties of materials strongly influence cell fate and functions. Focal adhesions are involved in the extremely important processes of mechanosensing and mechanotransduction. To address the relationship between the mechanical properties of cell substrates, focal adhesion/cytoskeleton assembly and cell functions, we investigated the behavior of NIH/3T3 cells over a wide range of stiffness (3-1000kPa) using two of the most common synthetic polymers for cell cultures: polyacrylamide and polydimethylsiloxane. An overlapping stiffness region was created between them to compare focal adhesion characteristics and cell functions, taking into account their different time-dependent behavior. Indeed, from a rheological point of view, polyacrylamide behaves like a strong gel (elastically), whereas polydimethylsiloxane like a viscoelastic solid. First, focal adhesion characteristics and dynamics were addressed in terms of material stiffness, then cell spreading area, migration rate and cell mechanical properties were correlated with focal adhesion size and assembly. Focal adhesion size was found to increase in the whole range of stiffness and to be in agreement in the overlapping rigidity region for the investigated materials. Cell mechanics directly correlated with focal adhesion lengths, whereas migration rate followed an inverse correlation. Cell spreading correlated with the substrate stiffness on polyacrylamide hydrogel, while no specific trend was found on polydimethylsiloxane. Substrate mechanics can be considered as a key physical cue that regulates focal adhesion assembly, which in turn governs important cellular properties and functions. PMID:26004223

  12. Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

    PubMed

    Dibbens, Leanne M; de Vries, Boukje; Donatello, Simona; Heron, Sarah E; Hodgson, Bree L; Chintawar, Satyan; Crompton, Douglas E; Hughes, James N; Bellows, Susannah T; Klein, Karl Martin; Callenbach, Petra M C; Corbett, Mark A; Gardner, Alison E; Kivity, Sara; Iona, Xenia; Regan, Brigid M; Weller, Claudia M; Crimmins, Denis; O'Brien, Terence J; Guerrero-López, Rosa; Mulley, John C; Dubeau, Francois; Licchetta, Laura; Bisulli, Francesca; Cossette, Patrick; Thomas, Paul Q; Gecz, Jozef; Serratosa, Jose; Brouwer, Oebele F; Andermann, Frederick; Andermann, Eva; van den Maagdenberg, Arn M J M; Pandolfo, Massimo; Berkovic, Samuel F; Scheffer, Ingrid E

    2013-05-01

    The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often arise from structural brain lesions, many affected individuals have normal brain imaging. The etiology is unknown in the majority of individuals, although genetic factors are increasingly recognized. Autosomal dominant familial focal epilepsy with variable foci (FFEVF) is notable because family members have seizures originating from different cortical regions. Using exome sequencing, we detected DEPDC5 mutations in two affected families. We subsequently identified mutations in five of six additional published large families with FFEVF. Study of families with focal epilepsy that were too small for conventional clinical diagnosis with FFEVF identified DEPDC5 mutations in approximately 12% of families (10/82). This high frequency establishes DEPDC5 mutations as a common cause of familial focal epilepsies. Shared homology with G protein signaling molecules and localization in human neurons suggest a role of DEPDC5 in neuronal signal transduction.

  13. Description of focal liver lesions with Gd-EOB-DTPA enhanced MRI

    PubMed Central

    CARAIANI, COSMIN-NICOLAE; DAN, MARIAN; FENESAN, DIANA-IOANA; BADEA, RADU

    2015-01-01

    Imaging procedures play a fundamental role in the therapeutic management of focal liver lesions. The goals of imaging are to detect and correctly characterize focal liver lesions. This review highlights the performances of newer, liver-specific, contrast media in the diagnosis of focal liver lesions, particularly Gd-EOB-DTPA (Primovist), the most frequently used liver specific contrast media. It has been shown, in different papers, that Gd-EOB-DTPA has better performances compared to either triphasic contrast enhanced computed tomography or dynamic MRI in both detection and characterization of hepatocellular carcinoma on the cirrhotic liver. Therefore liver MRI with Primovist is considered, in many centers, the “state-of-the-art” imaging examination of the liver before surgery or liver transplantation. Gd-EOB-DTPA is also useful in the differential diagnosis of benign hypervascular focal liver lesions such as adenomas or focal nodular hyperplasias. PMID:26733231

  14. Perfusion Imaging of Focal Cortical Dysplasia Using Arterial Spin Labeling: Correlation With Histopathological Vascular Density

    PubMed Central

    Wintermark, Pia; Lechpammer, Mirna; Warfield, Simon K.; Kosaras, Bela; Takeoka, Masanori; Poduri, Annapurna; Madsen, Joseph R.; Bergin, Ann M.; Whalen, Stephen; Jensen, Frances E.

    2016-01-01

    Focal cortical dysplasia is the most common malformation of cortical development, causing intractable epilepsy. This study investigated the relationship between brain perfusion and microvessel density in 7 children with focal cortical dysplasia. The authors analyzed brain perfusion measurements obtained by magnetic resonance imaging of 2 of the children and the microvessel density of brain tissue specimens obtained by epilepsy surgery on all of the children. Brain perfusion was approximately 2 times higher in the area of focal cortical dysplasia compared to the contralateral side. The microvessel density was nearly double in the area of focal cortical dysplasia compared to the surrounding cortex that did not have morphological abnormalities. These findings suggest that hyperperfusion can be related to increased microvessel density in focal cortical dysplasia rather than only to seizures. Further investigations are needed to determine the relationship between brain perfusion, microvessel density, and seizure activity. PMID:23696629

  15. System and method for generating a deselect mapping for a focal plane array

    SciTech Connect

    Bixler, Jay V; Brandt, Timothy G; Conger, James L; Lawson, Janice K

    2013-05-21

    A method for generating a deselect mapping for a focal plane array according to one embodiment includes gathering a data set for a focal plane array when exposed to light or radiation from a first known target; analyzing the data set for determining which pixels or subpixels of the focal plane array to add to a deselect mapping; adding the pixels or subpixels to the deselect mapping based on the analysis; and storing the deselect mapping. A method for gathering data using a focal plane array according to another embodiment includes deselecting pixels or subpixels based on a deselect mapping; gathering a data set using pixels or subpixels in a focal plane array that are not deselected upon exposure thereof to light or radiation from a target of interest; and outputting the data set.

  16. 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

  17. Research of aerial camera focal pane micro-displacement measurement system based on Michelson interferometer

    NASA Astrophysics Data System (ADS)

    Wang, Shu-juan; Zhao, Yu-liang; Li, Shu-jun

    2014-09-01

    The aerial camera focal plane in the correct position is critical to the imaging quality. In order to adjust the aerial camera focal plane displacement caused in the process of maintenance, a new micro-displacement measuring system of aerial camera focal plane in view of the Michelson interferometer has been designed in this paper, which is based on the phase modulation principle, and uses the interference effect to realize the focal plane of the micro-displacement measurement. The system takes He-Ne laser as the light source, uses the Michelson interference mechanism to produce interference fringes, changes with the motion of the aerial camera focal plane interference fringes periodically, and records the periodicity of the change of the interference fringes to obtain the aerial camera plane displacement; Taking linear CCD and its driving system as the interference fringes picking up tool, relying on the frequency conversion and differentiating system, the system determines the moving direction of the focal plane. After data collecting, filtering, amplifying, threshold comparing, counting, CCD video signals of the interference fringes are sent into the computer processed automatically, and output the focal plane micro displacement results. As a result, the focal plane micro displacement can be measured automatically by this system. This system uses linear CCD as the interference fringes picking up tool, greatly improving the counting accuracy and eliminated the artificial counting error almost, improving the measurement accuracy of the system. The results of the experiments demonstrate that: the aerial camera focal plane displacement measurement accuracy is 0.2nm. While tests in the laboratory and flight show that aerial camera focal plane positioning is accurate and can satisfy the requirement of the aerial camera imaging.

  18. Focal spot motion of linear accelerators and its effect on portal image analysis.

    PubMed

    Sonke, Jan-Jakob; Brand, Bob; van Herk, Marcel

    2003-06-01

    The focal spot of a linear accelerator is often considered to have a fully stable position. In practice, however, the beam control loop of a linear accelerator needs to stabilize after the beam is turned on. As a result, some motion of the focal spot might occur during the start-up phase of irradiation. When acquiring portal images, this motion will affect the projected position of anatomy and field edges, especially when low exposures are used. In this paper, the motion of the focal spot and the effect of this motion on portal image analysis are quantified. A slightly tilted narrow slit phantom was placed at the isocenter of several linear accelerators and images were acquired (3.5 frames per second) by means of an amorphous silicon flat panel imager positioned approximately 0.7 m below the isocenter. The motion of the focal spot was determined by converting the tilted slit images to subpixel accurate line spread functions. The error in portal image analysis due to focal spot motionwas estimated by a subtraction of the relative displacement of the projected slit from the relative displacement of the field edges. It was found that the motion of the focal spot depends on the control system and design of the accelerator. The shift of the focal spot at the start of irradiation ranges between 0.05-0.7 mm in the gun-target (GT) direction. In the left-right (AB) direction the shift is generally smaller. The resulting error in portal image analysis due to focal spotmotion ranges between 0.05-1.1 mm for a dose corresponding to two monitor units (MUs). For 20 MUs, the effect of the focal spot motion reduces to 0.01-0.3 mm. The error in portal image analysis due to focal spot motion can be reduced by reducing the applied dose rate.

  19. The Novel Diagnostic Biomarkers for Focal Segmental Glomerulosclerosis

    PubMed Central

    Nafar, Mohsen; Rezaei-Tavirani, Mostafa; Rutishuser, Dorothea; Zubarev, Roman A.

    2014-01-01

    Background. Focal segmental glomerulosclerosis (FSGS) is a glomerular injury with various pathogenic mechanisms. Urine proteome panel might help in noninvasive diagnosis and better understanding of pathogenesis of FSGS. Method. We have analyzed the urine sample of 11 biopsy-proven FSGS subjects, 8 healthy controls, and 6 patients with biopsy-proven IgA nephropathy (disease controls) by means of liquid chromatography tandem mass spectrometry (nLC-MS/MS). Multivariate analysis of quantified proteins was performed by principal component analysis (PCA) and partial least squares (PLS). Results. Of the total number of 389 proteins, after multivariate analysis and additional filter criterion and comparing FSGS versus IgA nephropathy and healthy subjects, 77 proteins were considered as putative biomarkers of FSGS. CD59, CD44, IBP7, Robo4, and DPEP1 were the most significant differentially expressed proteins. These proteins are involved in pathogenic pathways: complement pathway, sclerosis, cell proliferation, actin cytoskeleton remodeling, and activity of TRPC6.There was complete absence of DPEP1 in urine proteome of FSGS subjects compared with healthy and disease controls. DPEP1 acts via leukotrienes on TRPC6 and results in increased podocyte motility and proteinuria. Conclusion. The results suggest a panel of candidate biomarkers for noninvasive diagnosis of FSGS, while complete absence of DPEP1 might represent a novel marker of FSGS. PMID:24790760

  20. Microtubules Regulate Focal Adhesion Dynamics through MAP4K4

    PubMed Central

    Yue, Jiping; Xie, Min; Gou, Xuewen; Lee, Philbert; Schneider, Michael D; Wu, Xiaoyang

    2014-01-01

    Disassembly of focal adhesions (FAs) allows cell retraction and integrin detachment from the ECM, processes critical for cell movement. Growth of MT (microtubule) can promote FA turnover by serving as tracks to deliver proteins essential for FA disassembly. The molecular nature of this FA “disassembly factor”, however, remains elusive. By quantitative proteomics, we identified MAP4K4 (mitogen-activated protein kinase kinase kinase kinase 4) as a FA regulator that associates with MTs. Conditional knockout (cKO) of MAP4K4 in skin stabilizes FAs and impairs epidermal migration. By exploring underlying mechanisms, we further show that MAP4K4 associates with EB2, a MT binding protein, and IQSEC1, a guanine nucleotide exchange factor (GEF) specific for Arf6, whose activation promotes integrin internalization. Together, our findings provide critical insights into FA disassembly, suggesting that MTs can deliver MAP4K4 toward FAs through EB2, where MAP4K4 can in turn activate Arf6 via IQSEC1 and enhance FA dissolution. PMID:25490267

  1. Cosmology Large Angular Scale Surveyor (CLASS) Focal Plane Development

    NASA Astrophysics Data System (ADS)

    Chuss, D. T.; Ali, A.; Amiri, M.; Appel, J.; Bennett, C. L.; Colazo, F.; Denis, K. L.; Dünner, R.; Essinger-Hileman, T.; Eimer, J.; Fluxa, P.; Gothe, D.; Halpern, M.; Harrington, K.; Hilton, G.; Hinshaw, G.; Hubmayr, J.; Iuliano, J.; Marriage, T. A.; Miller, N.; Moseley, S. H.; Mumby, G.; Petroff, M.; Reintsema, C.; Rostem, K.; U-Yen, K.; Watts, D.; Wagner, E.; Wollack, E. J.; Xu, Z.; Zeng, L.

    2016-08-01

    The Cosmology Large Angular Scale Surveyor (CLASS) will measure the polarization of the Cosmic Microwave Background to search for and characterize the polarized signature of inflation. CLASS will operate from the Atacama Desert and observe ˜ 70 % of the sky. A variable-delay polarization modulator provides modulation of the polarization at ˜ 10 Hz to suppress the 1/ f noise of the atmosphere and enable the measurement of the large angular scale polarization modes. The measurement of the inflationary signal across angular scales that spans both the recombination and reionization features allows a test of the predicted shape of the polarized angular power spectra in addition to a measurement of the energy scale of inflation. CLASS is an array of telescopes covering frequencies of 38, 93, 148, and 217 GHz. These frequencies straddle the foreground minimum and thus allow the extraction of foregrounds from the primordial signal. Each focal plane contains feedhorn-coupled transition-edge sensors that simultaneously detect two orthogonal linear polarizations. The use of single-crystal silicon as the dielectric for the on-chip transmission lines enables both high efficiency and uniformity in fabrication. Integrated band definition has been implemented that both controls the bandpass of the single-mode transmission on the chip and prevents stray light from coupling to the detectors.

  2. Research on focal nodular hyperplasia with MSCT and postprocessing

    PubMed Central

    Liu, Yuan-Jian; Fan, Wei-Jun; Yuan, Zhi-Dong; Liu, Peng-Cheng; Wang, Chun-Rong; Yan, Wei-Qiang; Wang, Su-Mei; Chen, Jun-Hui; Liu, Zheng

    2009-01-01

    AIM: To investigate and evaluate the pathological features and diagnostic value of focal nodular hyperplasia (FNH) with multi-section spiral computed tomography (MSCT) and postprocessing. METHODS: A total of 25 patients with FNH who had undergone MSCT and postprocessing were included in the investigation. All patients had been pathologically or clinically confirmed with FNH. A number of 75 cases of hepatic carcinomas, hemangiomas and adenomas were randomly selected at a same period for a comparative study. RESULTS: There was a single focus in 22 cases and multiple foci in 3 cases. On the plain scan, 17 lesions showed hypodensity, 7 isodensity and 4 hyperdensity (the case with fatty liver). With contrast, 28 lesions were enhanced evenly or in the nodules in the arterial phase; 13 lesions still showed hyperdensity, 11 lesions isodensity and 4 lesions hypodensity in the parenchymatous phase; in the delayed phase only 5 lesions showed hyperdensity but 9 lesions showed isodensity or slight hypodensity and 14 lesions showed hypodensity. Twelve lesions of 28 had central asteroid scars. Thickened feeding arteries in postprocessing were seen in 24 lesions, and were integrated into the parenchymatous lesions with a gradual and smooth course. On the contrary, there were no artery penetrated into the lesion found in any of comparative hepatic tumors. CONCLUSION: Doctors could make a correct diagnosis and differentiation of FNH on evaluation of the characteristic appearance on MSCT with postprocessing. PMID:19824121

  3. Talin determines the nanoscale architecture of focal adhesions.

    PubMed

    Liu, Jaron; Wang, Yilin; Goh, Wah Ing; Goh, Honzhen; Baird, Michelle A; Ruehland, Svenja; Teo, Shijia; Bate, Neil; Critchley, David R; Davidson, Michael W; Kanchanawong, Pakorn

    2015-09-01

    Insight into how molecular machines perform their biological functions depends on knowledge of the spatial organization of the components, their connectivity, geometry, and organizational hierarchy. However, these parameters are difficult to determine in multicomponent assemblies such as integrin-based focal adhesions (FAs). We have previously applied 3D superresolution fluorescence microscopy to probe the spatial organization of major FA components, observing a nanoscale stratification of proteins between integrins and the actin cytoskeleton. Here we combine superresolution imaging techniques with a protein engineering approach to investigate how such nanoscale architecture arises. We demonstrate that talin plays a key structural role in regulating the nanoscale architecture of FAs, akin to a molecular ruler. Talin diagonally spans the FA core, with its N terminus at the membrane and C terminus demarcating the FA/stress fiber interface. In contrast, vinculin is found to be dispensable for specification of FA nanoscale architecture. Recombinant analogs of talin with modified lengths recapitulated its polarized orientation but altered the FA/stress fiber interface in a linear manner, consistent with its modular structure, and implicating the integrin-talin-actin complex as the primary mechanical linkage in FAs. Talin was found to be ∼97 nm in length and oriented at ∼15° relative to the plasma membrane. Our results identify talin as the primary determinant of FA nanoscale organization and suggest how multiple cellular forces may be integrated at adhesion sites. PMID:26283369

  4. Focal Targeting of the Bacterial Envelope by Antimicrobial Peptides.

    PubMed

    Rashid, Rafi; Veleba, Mark; Kline, Kimberly A

    2016-01-01

    Antimicrobial peptides (AMPs) are utilized by both eukaryotic and prokaryotic organisms. AMPs such as the human beta defensins, human neutrophil peptides, human cathelicidin, and many bacterial bacteriocins are cationic and capable of binding to anionic regions of the bacterial surface. Cationic AMPs (CAMPs) target anionic lipids [e.g., phosphatidylglycerol (PG) and cardiolipins (CL)] in the cell membrane and anionic components [e.g., lipopolysaccharide (LPS) and lipoteichoic acid (LTA)] of the cell envelope. Bacteria have evolved mechanisms to modify these same targets in order to resist CAMP killing, e.g., lysinylation of PG to yield cationic lysyl-PG and alanylation of LTA. Since CAMPs offer a promising therapeutic alternative to conventional antibiotics, which are becoming less effective due to rapidly emerging antibiotic resistance, there is a strong need to improve our understanding about the AMP mechanism of action. Recent literature suggests that AMPs often interact with the bacterial cell envelope at discrete foci. Here we review recent AMP literature, with an emphasis on focal interactions with bacteria, including (1) CAMP disruption mechanisms, (2) delocalization of membrane proteins and lipids by CAMPs, and (3) CAMP sensing systems and resistance mechanisms. We conclude with new approaches for studying the bacterial membrane, e.g., lipidomics, high resolution imaging, and non-detergent-based membrane domain extraction. PMID:27376064

  5. Phagocytosis executes delayed neuronal death after focal brain ischemia.

    PubMed

    Neher, Jonas J; Emmrich, Julius V; Fricker, Michael; Mander, Palwinder K; Théry, Clotilde; Brown, Guy C

    2013-10-22

    Delayed neuronal loss and brain atrophy after cerebral ischemia contribute to stroke and dementia pathology, but the mechanisms are poorly understood. Phagocytic removal of neurons is generally assumed to be beneficial and to occur only after neuronal death. However, we report herein that inhibition of phagocytosis can prevent delayed loss and death of functional neurons after transient brain ischemia. Two phagocytic proteins, Mer receptor tyrosine kinase (MerTK) and Milk fat globule EGF-like factor 8 (MFG-E8), were transiently up-regulated by macrophages/microglia after focal brain ischemia in vivo. Strikingly, deficiency in either protein completely prevented long-term functional motor deficits after cerebral ischemia and strongly reduced brain atrophy as a result of inhibiting phagocytosis of neurons. Correspondingly, in vitro glutamate-stressed neurons reversibly exposed the "eat-me" signal phosphatidylserine, leading to their phagocytosis by microglia; this neuronal loss was prevented in the absence of microglia and reduced if microglia were genetically deficient in MerTK or MFG-E8, both of which mediate phosphatidylserine-recognition. Thus, phagocytosis of viable neurons contributes to brain pathology and, surprisingly, blocking this process is strongly beneficial. Therefore, inhibition of specific phagocytic pathways may present therapeutic targets for preventing delayed neuronal loss after transient cerebral ischemia.

  6. Talin determines the nanoscale architecture of focal adhesions

    PubMed Central

    Liu, Jaron; Wang, Yilin; Goh, Wah Ing; Goh, Honzhen; Baird, Michelle A.; Ruehland, Svenja; Teo, Shijia; Bate, Neil; Critchley, David R.; Davidson, Michael W.; Kanchanawong, Pakorn

    2015-01-01

    Insight into how molecular machines perform their biological functions depends on knowledge of the spatial organization of the components, their connectivity, geometry, and organizational hierarchy. However, these parameters are difficult to determine in multicomponent assemblies such as integrin-based focal adhesions (FAs). We have previously applied 3D superresolution fluorescence microscopy to probe the spatial organization of major FA components, observing a nanoscale stratification of proteins between integrins and the actin cytoskeleton. Here we combine superresolution imaging techniques with a protein engineering approach to investigate how such nanoscale architecture arises. We demonstrate that talin plays a key structural role in regulating the nanoscale architecture of FAs, akin to a molecular ruler. Talin diagonally spans the FA core, with its N terminus at the membrane and C terminus demarcating the FA/stress fiber interface. In contrast, vinculin is found to be dispensable for specification of FA nanoscale architecture. Recombinant analogs of talin with modified lengths recapitulated its polarized orientation but altered the FA/stress fiber interface in a linear manner, consistent with its modular structure, and implicating the integrin–talin–actin complex as the primary mechanical linkage in FAs. Talin was found to be ∼97 nm in length and oriented at ∼15° relative to the plasma membrane. Our results identify talin as the primary determinant of FA nanoscale organization and suggest how multiple cellular forces may be integrated at adhesion sites. PMID:26283369

  7. Multiple lesions of cutaneous focal mucinosis in a teenager.

    PubMed

    Hernandez, Claudia; Fowler, Ashley; Gandhi, Mona Y

    2007-01-01

    A 19-year-old Hispanic woman presented to our clinic with a chief complaint of multiple pink papules on her face (Figure 1). The lesions were asymptomatic, had appeared several years before her consultation, and had remained stable in size. Similar lesions on her trunk and extremities had spontaneously resolved before presentation. She had no significant medical history and was not on any medications. Cutaneous examination was remarkable for a few scattered, well-demarcated, slightly raised pink papules and plaques with no scale, ranging from 0.5 to 1 cm in diameter. The lesions were distributed on the right cheek, right temple, left lower eyelid, and neck area. The rest of the cutaneous examination was unremarkable. A punch biopsy was performed from a lesion near the left premandibular area. Hematoxylin and eosin staining of the biopsy specimen revealed superficial perivascular dermatitis with a slight increase in the number of fibroblasts (Figure 2). Colloidal iron staining was diffusely positive with replacement of collagen with mucinous material in the dermal layer (Figure 3). Laboratory values for a complete blood cell count, metabolic panel, serum protein electrophoresis, urine protein electrophoresis, thyroid-stimulating hormone, and antinuclear antibody were within normal limits. The patient was diagnosed with cutaneous focal mucinosis. Because of cosmetic concerns, the patient declined surgical excision and intralesional corticosteroid injections. A 4-month trial of topical tacrolimus 0.1% ointment was ineffective. PMID:17975357

  8. Abnormal Movement Preparation in Task-Specific Focal Hand Dystonia

    PubMed Central

    Scheef, Lukas; Bewersdorff, Malte; Schild, Hans H.; Klockgether, Thomas; Boecker, Henning

    2013-01-01

    Electrophysiological and behavioral studies in primary dystonia suggest abnormalities during movement preparation, but this crucial phase preceding movement onset has not yet been studied specifically with functional magnetic resonance imaging (fMRI). To identify abnormalities in brain activation during movement preparation, we used event-related fMRI to analyze behaviorally unimpaired sequential finger movements in 18 patients with task-specific focal hand dystonia (FHD) and 18 healthy subjects. Patients and controls executed self-initiated or externally cued prelearnt four-digit sequential movements using either right or left hands. In FHD patients, motor performance of the sequential finger task was not associated with task-related dystonic posturing and their activation levels during motor execution were highly comparable with controls. On the other hand reduced activation was observed during movement preparation in the FHD patients in left premotor cortex / precentral gyrus for all conditions, and for self-initiation additionally in supplementary motor area, left mid-insula and anterior putamen, independent of effector side. Findings argue for abnormalities of early stages of motor control in FHD, manifesting during movement preparation. Since deficits map to regions involved in the coding of motor programs, we propose that task-specific dystonia is characterized by abnormalities during recruitment of motor programs: these do not manifest at the behavioral level during simple automated movements, however, errors in motor programs of complex movements established by extensive practice (a core feature of FHD), trigger the inappropriate movement patterns observed in task-specific dystonia. PMID:24167610

  9. MTF comparisons between mesa and planar focal plane detector structures

    NASA Astrophysics Data System (ADS)

    Perley, Mitchell; Wehner, Justin; Buell, Dave; Micali, Jason; McCorkle, Joe; Rehfield, Mark; Williams, Dave; Dixon, Andrew; Malone, Neil

    2013-09-01

    Raytheon Vision Systems (RVS) has developed scanning, high-speed (<3klps), all digital, with on-chip Analog-to-Digital Conversion (ADC), mid-wave infrared (MWIR 3-5mm) focal plane arrays (FPA) with excellent modulation transfer function (MTF) performance. Using secondary ion mass spectrometry (SIMS) data and detailed models of the mesa geometry, RVS modeled the predicted detector MTF performance of detectors. These detectors have a mesa structure and geometry for improved MTF performance compared to planar HgCdTe and InSb detector structures and other similar detector structures such as nBn. The modeled data is compared to measured MTF data obtained from edge spread measurements and shows good agreement, Figure 1. The measured data was obtained using a custom advanced test set with 1µm precision alignment and automatic data acquisition for report generation in less than five minutes per FPA. The measured MTF values of 83 unique parts, Figure 2, had a standard deviation of 0.0094 and a mean absolute deviation of 0.0066 at half Nyquist frequency, showing excellent process repeatability and a design that supports high MTF with good repeatability.

  10. Functional focal retrograde amnesia: lost access to abstract autobiographical knowledge?

    PubMed

    Stracciari, Andrea; Mattarozzi, Katia; Fonti, Cristina; Guarino, Maria

    2005-10-01

    We describe three patients exhibiting an acute reversible amnesia characterised by an impaired recollection of past events with preserved anterograde memory, thus consistent with a focal retrograde amnesia (FRA). This occurred after variable events: state of fugue, road accident, post-traumatic headache. Retrograde amnesia affected autobiographical memory so severely as to cover all of the patients' lives and to erase knowledge of their own identity. The retrieval of public events was variably affected, ranging from normality to severe impairment. No lesions were found on neuroimaging, and neurophysiological findings were unimpressive. FRA subsided in a few days, leaving a gap for the onset. The hypothesis of a psychogenic amnesia is considered, but overcoming the organic/psychogenic dichotomy the episodes appear as examples of "functional" memory inhibition, potentially triggered by different conditions, including events classifiable as psychic trauma. The clinical and neuropsychological traits of functional FRA are discussed. According to a current theory of autobiographical memory, the memory profile may be explained by a lost access to abstract autobiographical knowledge. Given some analogies with the more common transient global amnesia, a mechanism of spreading depression may also be hypothesised for functional FRA. PMID:16191819

  11. NBR1 enables autophagy-dependent focal adhesion turnover

    PubMed Central

    Kenific, Candia M.; Stehbens, Samantha J.; Goldsmith, Juliet; Leidal, Andrew M.; Faure, Nathalie; Ye, Jordan; Wittmann, Torsten

    2016-01-01

    Autophagy is a catabolic pathway involving the sequestration of cellular contents into a double-membrane vesicle, the autophagosome. Although recent studies have demonstrated that autophagy supports cell migration, the underlying mechanisms remain unknown. Using live-cell imaging, we uncover that autophagy promotes optimal migratory rate and facilitates the dynamic assembly and disassembly of cell-matrix focal adhesions (FAs), which is essential for efficient motility. Additionally, our studies reveal that autophagosomes associate with FAs primarily during disassembly, suggesting autophagy locally facilitates the destabilization of cell-matrix contact sites. Furthermore, we identify the selective autophagy cargo receptor neighbor of BRCA1 (NBR1) as a key mediator of autophagy-dependent FA remodeling. NBR1 depletion impairs FA turnover and decreases targeting of autophagosomes to FAs, whereas ectopic expression of autophagy-competent, but not autophagy-defective, NBR1 enhances FA disassembly and reduces FA lifetime during migration. Our findings provide mechanistic insight into how autophagy promotes migration by revealing a requirement for NBR1-mediated selective autophagy in enabling FA disassembly in motile cells. PMID:26903539

  12. Non-invasive treatment options for focal cortical dysplasia

    PubMed Central

    WANG, TING-TING; ZHOU, DONG

    2016-01-01

    Focal cortical dysplasia (FCD) presents a strong clinical challenge especially for the treatment of the associated epilepsy. Epilepsy in FCD is often treatment-resistant and constitutes 50% of treatment-resistant cases. Antiepileptic drugs (AEDs) have been widely used in the treatment of FCD. However, evidence to suggest their specific effect on the treatment of FCD remains to be established. In view of this resistance, several alternative treatments have been suggested. Although treatment currently involves surgical management, non-invasive treatments have been identified. The aim of the present review, was to assess non-invasive management strategies including, i) mammalian target of rapamycin (mTOR) inhibitors, ii) ketogenic diet (KD), and iii) vagus nerve stimulation (VNS). In addition, we discussed the literature available regarding the use of AEDs in FCD. Experiments conducted with mammals detailing rapamycin gene mutations in FCD have produced vital information for exploring treatment options using mTOR inhibitors. Of note is the importance of KD in children with FCD. This diet has been shown to modify disease progression by attenuating chromatin modification, a master regulator for gene expression and functional adaptation of the cell. FCD has also been studied widely with neurostimulation techniques. The outcomes of these techniques have been found to be variable. For widespread dysplasias, VNS has been shown to produce responder rates of >50%. Nevertheless, non-invasive cranial nerve stimulation techniques such as transcutaneous VNS and non-invasive VNS are gaining better patient compatibility, albeit their efficacy remains to be established. PMID:27168769

  13. Focal transmural necrotic tracheitis in commercial meat turkeys.

    PubMed

    Sentíes-Cué, Gabriel; Crespo, Rocio; Chin, R P

    2003-01-01

    This report describes an unusual presentation of severe focal necrotic tracheitis in a flock of 8-wk-old commercial turkeys. The flock was kept on a range that is located near a cotton field. The cotton field had been chemically defoliated 2 wk before the birds were submitted for necropsy. At necropsy, most of the birds had a 1-cm, yellow-white constricture in the upper third of the trachea at which the lumen was partially occluded by necrotic tissue. Microscopically, there was severe, transmural necrosis with an accumulation of inflammatory exudate in the tracheal lumen and numerous bacteria within the necrotic debris, mucosa, and lamina propria. Mixed bacteria were isolated from the trachea. No viruses were detected. Neither abnormal heavy metal concentrations in the liver nor paraquat in the respiratory tract were detected. The exact cause of this severe, necrotic tracheitis was not determined. Based on the clinical history and laboratory findings, it was concluded that a combination of a toxic irritant, possibly an aerosolized cotton defoliant, and bacterial infections were likely the cause of this lesion. PMID:12713185

  14. Focal plane mechanical design of the NISP/Euclid instrument

    NASA Astrophysics Data System (ADS)

    Bonnefoi, Anne; Bon, William; Niclas, Mathieu; Solheim, Bjarte G. B.; Torvanger, Oyvind; Schistad, Robert; Foulon, Benjamin; Garcia, José; Vives, Sébastien

    2016-07-01

    Currently in phase C, the Euclid mission selected by ESA in the Cosmic Vision program is dedicated to understand dark energy and dark matter. NISP (standing for Near Infrared Spectro-Photometer) is one of the two instruments of the mission. NISP will combine a photometer and a spectrometer working in the near-IR (0.9-2 microns). Its detection subsystem (called NI-DS) is based on a mosaic of 16 IR detectors cooled down to 90K which are supported by a molybdenum plate. The front-end readout electronics (working at 130K) are supported by another structure in Aluminum. The NI-DS is mounted on the rest of the instrument thanks to a panel in Silicon Carbide (SiC). Finally an optical baffle in Titanium will prevent the rogue light to reach the detectors. On top of the complexity due to the wide range of temperatures and the various materials imposed at the interfaces; the NI-DS has also to incorporate an internal adjustment capability of the position of the focal plane in tip/tilt and focus. This article will present current status of the development of the detection system of NISP.

  15. COMMUNICATION: Electrophysiological response dynamics during focal cortical infarction

    NASA Astrophysics Data System (ADS)

    Chiganos, Terry C., Jr.; Jensen, Winnie; Rousche, Patrick J.

    2006-12-01

    While the intracellular processes of hypoxia-induced necrosis and the intercellular mechanisms of post-ischemic neurotoxicity associated with stroke are well documented, the dynamic electrophysiological (EP) response of neurons within the core or periinfarct zone remains unclear. The present study validates a method for continuous measurement of the local EP responses during focal cortical infarction induced via photothrombosis. Single microwire electrodes were acutely implanted into the primary auditory cortex of eight rats. Multi-unit neural activity, evoked via a continuous 2 Hz click stimulus, was recorded before, during and after infarction to assess neuronal function in response to local, permanent ischemia. During sham infarction, the average stimulus-evoked peak firing rate over 20 min remained stable at 495.5 ± 14.5 spikes s-1, indicating temporal stability of neural function under normal conditions. Stimulus-evoked peak firing was reliably reduced to background levels (firing frequency in the absence of stimulus) following initiation of photothrombosis over a period of 439 ± 92 s. The post-infarction firing patterns exhibited unique temporal degradation of the peak firing rate, suggesting a variable response to ischemic challenge. Despite the inherent complexity of cerebral ischemia secondary to microvascular occlusion, complete loss of EP function consistently occurred 300-600 s after photothrombosis. The results suggest that microwire recording during photothrombosis provides a simple and highly efficacious strategy for assessing the electrophysiological dynamics of cortical infarction.

  16. Focal Targeting of the Bacterial Envelope by Antimicrobial Peptides

    PubMed Central

    Rashid, Rafi; Veleba, Mark; Kline, Kimberly A.

    2016-01-01

    Antimicrobial peptides (AMPs) are utilized by both eukaryotic and prokaryotic organisms. AMPs such as the human beta defensins, human neutrophil peptides, human cathelicidin, and many bacterial bacteriocins are cationic and capable of binding to anionic regions of the bacterial surface. Cationic AMPs (CAMPs) target anionic lipids [e.g., phosphatidylglycerol (PG) and cardiolipins (CL)] in the cell membrane and anionic components [e.g., lipopolysaccharide (LPS) and lipoteichoic acid (LTA)] of the cell envelope. Bacteria have evolved mechanisms to modify these same targets in order to resist CAMP killing, e.g., lysinylation of PG to yield cationic lysyl-PG and alanylation of LTA. Since CAMPs offer a promising therapeutic alternative to conventional antibiotics, which are becoming less effective due to rapidly emerging antibiotic resistance, there is a strong need to improve our understanding about the AMP mechanism of action. Recent literature suggests that AMPs often interact with the bacterial cell envelope at discrete foci. Here we review recent AMP literature, with an emphasis on focal interactions with bacteria, including (1) CAMP disruption mechanisms, (2) delocalization of membrane proteins and lipids by CAMPs, and (3) CAMP sensing systems and resistance mechanisms. We conclude with new approaches for studying the bacterial membrane, e.g., lipidomics, high resolution imaging, and non-detergent-based membrane domain extraction. PMID:27376064

  17. Spontaneous gesture and spatial language: Evidence from focal brain injury.

    PubMed

    Göksun, Tilbe; Lehet, Matthew; Malykhina, Katsiaryna; Chatterjee, Anjan

    2015-11-01

    People often use spontaneous gestures when communicating spatial information. We investigated focal brain-injured individuals to test the hypotheses that (1) naming motion event components of manner-path (represented by verbs-prepositions in English) are impaired selectively, (2) gestures compensate for impaired naming. Patients with left or right hemisphere damage (LHD or RHD) and elderly control participants were asked to describe motion events (e.g., running across) depicted in brief videos. Damage to the left posterior middle frontal gyrus, left inferior frontal gyrus, and left anterior superior temporal gyrus (aSTG) produced impairments in naming paths of motion; lesions to the left caudate and adjacent white matter produced impairments in naming manners of motion. While the frequency of spontaneous gestures were low, lesions to the left aSTG significantly correlated with greater production of path gestures. These suggest that producing prepositions-verbs can be separately impaired and gesture production compensates for naming impairments when damage involves left aSTG. PMID:26283001

  18. Essential role for focal adhesion kinase in regulating stress hematopoiesis

    PubMed Central

    Ramdas, Baskar; Hanneman, Philip; Martin, Joseph; Beggs, Hilary E.

    2010-01-01

    Focal adhesion kinase (FAK) is a non-receptor tyrosine kinase that has been extensively studied in fibroblasts; however its function in hematopoiesis remains an enigma. FAK is thought to be expressed in myeloid and erythroid progenitors, and its expression is enhanced in response to cytokines such as granu-locyte macrophage colony-stimulating factor. Furthermore, bone marrow cells cultured in granulocyte macrophage colony-stimulating factor show active migration and chemoattractant-induced polarization, which correlates with FAK induction. While loss of FAK in mice results in embryonic lethality, we have deleted FAK in the adult bone marrow. We show an essential role for FAK in regulating hemolytic, myelotoxic, as well as acute inflammatory stress responses in vivo. In vitro, loss of FAK in erythroid and myeloid progenitor's results in impaired cytokine induced growth and survival, as well as defects in the activation and expression of antiapoptotic proteins caspase 3 and Bcl-xL. Additionally, reduced migration and adhesion of myeloid cells on extracellular matrix proteins, as well as impaired activation of Rac GTPase is also observed in the absence of FAK. Our studies reveal an essential role for FAK in integrating growth/survival and adhesion based functions in myeloid and erythroid cells predominantly under conditions of stress. PMID:20664055

  19. Progression of experimental focal glomerulosclerosis in the spontaneously hypertensive rat.

    PubMed

    Saito, T; Sato, H; Obara, K; Yamakage, K; Abe, K; Furuyama, T; Yoshinaga, K

    1990-02-01

    To study the influence of hypertension on the progression of focal glomerulosclerosis (FGS), we produced an experimental model of FGS in spontaneously hypertensive rats (SHRs) by the combined administration of puromycinaminonucleoside (AMNS) and protamine sulfate (PS). SHRs and normotensive Wistar Kyoto rats as a control strain were given daily injections of subcutaneous AMNS (1 mg/100 gm body weight) and intravenous PS (two separated doses of 2.5 mg/100 mg body weight) for 4 days; they were killed on day 80 after three series of injections at 10-day intervals. The levels of urinary protein, serum creatinine, and urea nitrogen in SHRs given AMNS and PS were elevated throughout the experiment and were significantly higher than these levels in other control groups on day 80. Histology in SHRs given AMNS and PS showed advanced FGS associated with glomerular hypertrophy and widespread interstitial fibrosis. Most small arteries and arterioles showed "onion peel" thickening and fibrinoid necrosis of the intima, which is characteristic of malignant arteriosclerosis. We observed that the gradient of glomerulosclerosis increased from superficial to deep cortical zones; this phenomenon had often been reported in human FGS. However, these distinguished lesions were not found in control groups. Therefore, it is suggested that systemic hypertension is one of the deleterious factors enhancing histologic and functional deterioration in FGS. PMID:2299264

  20. Some ecological criteria of natural focality of mycotic zoonoses.

    PubMed

    Otcenásek, M; Rosický, B

    1979-01-01

    Mycotic zoonoses sensu stricto and mycotic infections acquired from animal polluted environment belong to diseases characterized by the phenomenon of natural focality. On a global scale they comprise 16 different diseases caused by yeast-like organisms, dematophytes, dimorphous agents of systemic mycoses and primarily saprophytic fungi as well. Prevalence of mentioned diseases is influenced by a number of factors concerning not only biology and ecology of pathogenic agents and particular hosts, but also character of specific extra-animal substrates which make possible long-term maintenance or active propagation of agents in the environment. On the basis of their experience and published data as well, the authors present a survey and analysis of these factors, with particular emphasis on very frequent dermatophytozoonoses and some systemic mycoses. They pay attention to different conditions in urbanized and rural areas and to specific situations encountered by man and food producing animals in these areas. They note different ways of heterotrophy of particular agents and their association with vertebrate hosts which they divide into six ecologically different groups. The authors also characterize the environment in which a portion of saproparatrophic circulation of the agent takes place. They also give a survey of animal-connected human mycoses, which may arise due to occupational hazards.