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Sample records for focal dermal hypoplasia

  1. Genetics Home Reference: focal dermal hypoplasia

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    ... Home Health Conditions focal dermal hypoplasia focal dermal hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Focal dermal hypoplasia is a genetic disorder that primarily affects the ...

  2. Focal dermal hypoplasia: A rare case report

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    Sahana M Srinivas

    2015-01-01

    Full Text Available 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.

  3. Spectrum of PORCN mutations in Focal Dermal Hypoplasia

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    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...

  4. Novel PORCN mutations in focal dermal hypoplasia.

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    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.

  5. Focal dermal hypoplasia: Unusual presentation in Saudi Arabia

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    Awadh Alamri

    2016-01-01

    Full Text Available Focal dermal hypoplasia (Goltz syndrome is a rare genetic multisystem characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females. We report a case of a two month-old baby girl who had dermal hypoplasia, atrophic skin lesions with telangiectasia in a linear pattern, fat herniations, papillomas and cleft of the upper lip, ectrodactyly, claw hands, microphthalmia and unusual association of gastrointestinal omphalocele.

  6. Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia

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    Stefan Gysin

    2015-05-01

    Full Text Available 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.

  7. Focal dermal hypoplasia: ultrastructural abnormalities of the connective tissue.

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    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.

  8. Oral phenotype and variation in focal dermal hypoplasia.

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    Wright, John Timothy; Puranik, Chaitanya P; Farrington, Frank

    2016-03-01

    Focal dermal hypoplasia (FDH) or Goltz Syndrome (OMIM# 305600) is an X-linked dominant ectodermal dysplasia caused by mutations in the PORCN gene. This gene encodes an endoplasmic reticulum transmembrane protein that is involved in processing the embryonically critical WNT signaling proteins. Individuals diagnosed with FDH were recruited to participate in the study through the National Foundation for Ectodermal Dysplasia. Individuals were evaluated to characterize the FDH phenotype. Each participant completed a brief dental survey and oral evaluation using artificial light. To identify the oral soft and hard tissue findings 19 individuals (16 female and 3 male) participated with a median age of 10 years (range 2-56 years). Soft and hard tissue defects were present in 68% (13) and 94% (18) of the patients, respectively. Dental anomalies were highly prevalent with 68% (13) demonstrating vertical enamel grooving, 52% (10) having peg shaped tooth deformities, and 78% (15) having enamel hypoplasia with or without discoloration. Cleft lip and cleft palate presented in 15% (3) of the participants. Other findings included 57% (11) having intra-oral lipoma or papilloma with no site predilection. Dental malocclusions were common with 63% (12) having some degree of malocclusion with 15% (3) of participants having class III malocclusion with an anterior dental cross bite. Participants frequently reported speech problems or difficulty with chewing (73%; N = 14). This study shows there is marked variation in the oral phenotype of individuals with FDH and underscores the important role of WNT signaling in oro-facial development.

  9. Osteopathia striata: a characteristic X-ray finding in focal dermal hypoplasia (Goltz-Gorlin syndrome)

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    Barthels, W.; Boepple, D.; Petzel, H.

    1982-12-01

    Two cases of the very rare Goltz-Gorlin syndrome are presented. The relationship of osteopathia striata and focal dermal hypoplasia is discussed, and it is concluded that the osteopathia striata represents the characteristic picture of this ectopic mesodermal abnormality.

  10. Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

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    Bree, Alanna F; Grange, Dorothy K; Hicks, M John; Goltz, Robert W

    2016-03-01

    Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scientific and clinical conference convened by the National Foundation for Ectodermal Dysplasia which allowed further characterization of the features of this very rare condition. At birth, the affected areas of skin are typically erythematous and fragile. The hallmark cutaneous features, which vary widely due to mosacism and X-inactivation, include the previously described skin changes of asymmetric Blaschko-linear and reticulated atrophy, pigmentary changes, and telangectasias. Lipomatous changes and papillomas as characteristically defined were reported in the majority of patients. A newly recognized skin finding was progressive hyperpigmented freckling that occurred within the hypopigmented areas which were noted to be photosensitive. Many patients also had a pebbly texture to the central face, dorsal hands and feet. Punctate erosions within the atrophic areas and hypohidrosis were also common. Most had patchy alopecia and many had diffusely thin hair. Scanning electron microscopy of the hair shafts revealed abnormalities in the majority of participants with several different features identified, including atrophic hairs with reduced diameters, markedly flattened hairs as noted in cross-sectional views, trichorrhexis nodosa, pili torti, and pili trianguli et canaliculi. Nail changes included V-nicking and longitudinal ridging of the nail plate, in addition to micronychia. Early recognition of the dermatologic features, in addition to the variable but universal limb anomalies, of Goltz syndrome will allow early and accurate diagnosis without the need for extensive diagnostic studies, while also allowing for accurate prognosis and appropriate genetic counseling.

  11. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

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    Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular, and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and fou...

  12. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.

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    Young, Marielle P; Sawyer, Briana L; Hartnett, M Elizabeth

    2014-04-01

    Focal dermal hypoplasia is a rare X-linked dominant disorder with in utero lethality in males. Affected patients have been reported to have several different mutations in the PORCN gene on chromosome Xp11.23. Dysplastic mesodermal and ectodermal tissue causes clinical findings in the skin, skeleton, teeth, central nervous system, and eyes of affected patients. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.

  13. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

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    Bostwick, Bret; Fang, Ping; Patel, Ankita; Sutton, V Reid

    2016-03-01

    Focal dermal hypoplasia, or Goltz syndrome, is a highly variable X-linked dominant disorder with abnormalities in ectoderm and mesoderm derived tissues. Classic clinical features include patchy hypoplastic skin, split hand/foot deformities, and ocular malformations. We aimed to refine the understanding of the phenotypic spectrum and natural history of this disorder and now present multi-disciplinary clinical description and medical history review for 18 patients with focal dermal hypoplasia. All disease characteristics were analyzed and compiled in aggregate to aid in development of clinical diagnostic criteria. Medical history data unexpectedly revealed that the majority of patients (87%) had undergone tonsillectomy for obstructive sleep apnea, which exposed an important co-morbidity that is not well described in the literature, but managing physicians should be made aware of. Fifteen of the 18 patients underwent molecular sequencing of PORCN to detect heterozygous or mosaic mutations. Where no mutation was detected, we performed exon-targeted chromosomal microarray to evaluate for large deletions of the PORCN gene region. We detected a pathogenic genotype in 14 of 15 patients, including one novel chromosomal deletion and four novel PORCN sequence variants. Here, we provide phenotypic summary analysis of 18 patients with focal dermal hypoplasia and propose clinical diagnostic criteria.

  14. Focal Dermal Hypoplasia with Uterus Bicornis and Renal Ectopia: Case Report and Review of the Literature

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    Rocío F. Lopez-Porras

    2011-08-01

    Full Text Available Focal dermal hypoplasia (FDH is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that the patient was a carrier of FDH. This is the first report in the literature describing that FDH is associated with uterus bicornis and renal ectopia. Our association could be attributable to early embryonic abnormalities related with FDH because both the uterus bicornis and the renal ectopia originate around the 3th–6th week of embryonic development. We are unable to confirm that the miscarriages were caused by inherited FDH or that uterus bicornis was the cause. We conducted a literature review using the following terms: FDH, Goltz syndrome, uterus bicornis, and renal ectopia.

  15. Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.

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    Peters, Tess; Perrier, Renee; Haber, Richard M

    2014-01-01

    Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.

  16. Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.

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    Gisseman, Jordan D; Herce, Honey H

    2016-03-01

    Focal Dermal Hypoplasia (FDH) or Goltz syndrome is a rare multi-system disorder with cutaneous, ocular, dental, and skeletal anomalies due to dysplasia of mesoectodermal derived tissues. It is an X-linked inheritance syndrome caused by mutations in the PORCN gene. This study is aimed to investigate the ocular findings in patients with Goltz syndrome. To date, there have been a limited number of case reports on the ocular manifestations of FDH. This is a prospective, non-consecutive, observational case series. Prospective ophthalmologic evaluation was performed on 18 patients with confirmed genetic testing for FDH, Goltz Syndrome, as a component of a larger multi-subspecialty study to better characterize the findings of this condition. Special attention was placed on evaluating the incidence of anophthalmia, microphthalmia, colobomas (iris, optic nerve, and/or retinal), cataracts, nystagmus, and strabismus. A complete ophthalmologic exam was done on all the patients. The mean patient age was 12.8 years (1-55 years). Eighty-nine percent were female and 77% (14/18) of patients had some form of an ophthalmologic manifestation of the condition. Ophthalmological findings included chorioretinal colobomas (61%), iris colobomas (50%), microphthalmia (44%), anophthalmia (11%), cataracts (11%), and conjunctival and eyelid papillomas (5%). Nystagmus was present in 33% and strabismus in 22% of the patients. Visual acuity ranged from 20/20 to no light perception. This study demonstrates a higher incidence of ophthalmologic manifestations as previously reported (77% vs. 40%). To our knowledge, this is the largest case series reported in the literature with 18 patients.

  17. Hipoplasia dérmica focal (Síndrome de Goltz: amplia variabilidad fenotípica Focal Dermal Hypoplasia (Goltz's Syndrome: Wide Phenotypic Variability

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    JC Acosta

    2009-12-01

    Full Text Available La hipoplasia dérmica focal (MIM# 305600, también llamada hipoplasia mesoectodérmica, es una rara entidad genética con un mecanismo de herencia dominante ligado al cromosoma X. Principalmente compromete piel, sistema esquelético, ojos y cara, con diferentes grados de severidad. Se describe dos casos clásicos e ilustrativos de hipoplasia dérmica focal, observando la amplia heterogeneidad fenotípica que estos pacientes pueden presentar. Hasta el momento es el segundo reporte en la literatura indexada de Colombia. Se realiza una amplia y actualizada revisión de la literatura.The focal dermal hypoplasia (MIM # 305600, also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

  18. Focal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant

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    Swathi Sunil Rao

    2016-01-01

    Full Text Available Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.

  19. 局灶性真皮发育不全一例%A case of focal dermal hypoplasia

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    吴侃; 张韡; 黄莹雪; 胡彬; 孙建方

    2014-01-01

    患者男,17岁,出生时即出现多发条纹状红色斑片和丘疹,红色斑片菲薄易破,愈后遗留色素减退斑片.右手第1、2指指甲发育不全.随年龄增长逐渐出现泛发线状或漩涡状色素沉着条纹,部分黄红色丘疹增大形成斑块.于儿童期始逐渐出现多发的乳头瘤样皮损,以口周为著.皮肤科检查:全身泛发线状或漩涡状的色素沉着斑片,以躯干为著,其间散在色素减退斑片与黄红色斑块.口周、下颌及右腘窝多发乳头瘤样皮损.皮损组织病理检查:表皮角化不全,真皮厚度显著变薄,真皮乳头层血管增多,皮下脂肪层上移.诊断:局灶性真皮发育不全.%A 17-year-old boy presented with multiple striated erythema and papules at birth.The erythema was fragile,easily damaged,and often healed leaving hypopigmented patches.The right first and second finger nails were hypoplastic.Generalized linear or whorled hyperpigmented patches gradually developed,and some yellow-pink papules enlarged into plaques with age.Multiple papillomatous papules appeared during childhood,which were mainly distributed in the perioral region.Skin examination revealed widespread linear or whorled hyperpigmented patches intermingled with scattered hypopigmented patches and yellow-pink plaques,which were mainly located in the trunk.Multiple papillomatous papules were observed in the perioral region,mandibular region,and right popliteal fossa.Skin biopsy showed epidermal parakeratosis,diminished dermal thickness,increased blood vessel density in dermal papillae,upward migration of subcutaneous fat layer known as "fat herniation".A diagnosis of focal dermal hypoplasia was made.

  20. Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome.

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    Wei Liu

    Full Text Available BACKGROUND: Focal Dermal Hypoplasia (FDH is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins required for secretion and function of Wnt proteins. Wnt proteins play important roles in embryo development, tissue homeostasis and stem cell maintenance. Since features of FDH overlap with those seen in mouse Wnt pathway mutants, FDH likely results from defective Wnt signaling but molecular mechanisms by which inactivation of PORCN affects Wnt signaling and manifestations of FDH remain to be elucidated. RESULTS: We introduced intronic loxP sites and a neomycin gene in the mouse Porcn locus for conditional inactivation. Porcn-ex3-7flox mice have no apparent developmental defects, but chimeric mice retaining the neomycin gene (Porcn-ex3-7Neo-flox have limb, skin, and urogenital abnormalities. Conditional Porcn inactivation by EIIa-driven or Hprt-driven Cre recombinase results in increased early embryonic lethality. Mesenchyme-specific Prx-Cre-driven inactivation of Porcn produces FDH-like limb defects, while ectodermal Krt14-Cre-driven inactivation produces thin skin, alopecia, and abnormal dentition. Furthermore, cell-based assays confirm that human PORCN mutations reduce WNT3A secretion. CONCLUSIONS: These data indicate that Porcn inactivation in the mouse produces a model for human FDH and that phenotypic features result from defective WNT signaling in ectodermal- and mesenchymal-derived structures.

  1. Focal dermal hypoplasia presenting as incontinentia pigmenti: a case report%皮损形态类似于色素失调症的局灶性真皮发育不全

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    马东来; 胡瑾; 方凯

    2011-01-01

    A case of focal dermal hypoplasia presenting as incontinentia pigmenti is reported.A 30-year-old woman presented with hyperpigmentation, hypopigmentation and atrophy macules all over the body since birth.The lesions follow Blaschko' s lines.She also had syndactylies of the third and fourth toes of the right foot since birth.Biopsy specimens showed dermal hypoplasia, attenuation of the dermis, and upward extension of the fat tissue.Verhoeff and acid orcein-Giemsa stains showed a remarkable diminution of fine elastic fibers from the papillary to upper reticular dermis.whereas those of the mid dermis were intact.Differential diagnosis must be made with incontinentia pigmenti.%报告1 例皮损形态类似于色素失调症的局灶性真皮发育不全.患者女,30 岁.因全身条纹状和不规则形的色素斑近30 年就诊.皮损沿Blaschko 线分布,主要由色素沉着斑、色素减退斑和萎缩斑等组成.此外,患者还有右足第3 和第4 趾的并趾畸形.组织病理检查:真皮发育不良,明显变薄,皮下脂肪组织上移.弹性纤维染色显示真皮上层的弹性纤维明显减少,而真皮中、下层的弹性纤维却基本正常.临床上主要需与色素失调症鉴别.

  2. 局灶性真皮发育不全患者PORCN基因突变研究%A novel PORCN gene mutation in a patient with focal dermal hypoplasia

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    刘玉梅; 周欣; 邓惠妍; 何玉清; 朱慧兰; 张锡宝

    2010-01-01

    Objective To detect the mutation of PORCN gene in a patient with focal dermal hypoplasia and study the genotype-phenotype correlation. Methods Peripheral blood samples were obtained from the family members and control subjects. PCR was carried out to amplify all the exons and adjacent splice sites of PORCN gene and mutation was detected by bidirectional sequencing. Results A G149C mutation was found at exon 2 of the PORCN gene in the patient, which caused a change from Alanine to Proline at eodon 38 (A38P). The patient presented mild clinical manifestations. Conclusion A new missense mutation (A38P) in the PORCN was detected in the patient, which maybe one of the molecular mechanisms in the pathogenesis of the disease. The relationship between G149C genotype and moderate phenotype might be attributed to the influence of A38P missense mutation towards the corresponding protein, which is different from previous results.%目的 检测局灶性真皮发育不全(focal dermal hypoplasia,FDH)患者PORCN基因突变情况,探讨基因型与表型的相关性.方法 收集1例局灶性真皮发育不全患者及其家系3名正常成员及50名无血缘关系的健康对照者的外周血,采用PCR扩增PORCN基因所有外显子及其邻近的剪切位点进行直接测序.结果 患者PORCN基因核苷酸序列第2外显子上第149位碱基由G变为C,导致第38位氨基酸丙氨酸被脯氨酸代替(A38P),该患者家属及健康对照无此突变.患者临床表现中度.结论 该患者存在PORCN基因A38P突变,为一新的错义突变,可能是导致FDH发病机制之一.G149C基因型与中度的表型之间的关系与A38P错义突变对蛋白的影响有关,与以往结论不同.

  3. A case report of focal dermal hypoplasia-Goltz syndrome

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    Sheela Bharani

    2013-01-01

    Full Text Available Goltz syndrome is a rare multisystem disorder with cutaneous, ocular, dental and skeletal abnormalities. Other mesoectodermal abnormalities are also present. Its hallmark is thinning of the dermis resulting subcutaneous fat herniation. The present case is a 5 year old girl having linear skin atrophy with fat herniation, skeletal abnormalities in the form of polysyndactyly, facial asymmetry, squint with coloboma iris, deformed pinna, abnormal dentition, umbilical hernia along with osteopathia striata of long bones which is consistent with Goltz syndrome. We are presenting this case due to its rarity.

  4. Microphthalmia and linear skin defects (MLS) and focal dermal hypoplasia of Goltz (FDHG); Clinical cytogenetic, and molecular studies

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    Schnur, R.E.; Wick, P.A.; Louis, A. [Childrens Hospital of Philadelphia, PA (United States)

    1994-09-01

    MLS and FDHG syndromes have overlapping phenotypes, including linear skin defects or erosions that heal in cribiform patterns of atrophy and pigmentary change and asymmetric ocular defects. It has been postulated that MLS and FDHG phenotypes reflect changes in the same gene(s) as well as variable X-inactivation patterns. In order to explore this, we studied one new MLS and 2 FDHG patients at clinical, cytogenetic, and molecular levels. Phenotype comparison: We observed a greater variety and wider distribution of cutaneous lesions in FDHG. Only the MLS patient had microphthalmia and sclerocornea with other ocular changes. Skeletal lesions were seen in only one FDHG patient who also had additional problems. Cytogenetics: The MLS patient demonstrated a 46,XX,del(X)(p22) karyotype. We excluded a cryptic Y-translocation by FISH using a Y-chromosome paint. Both FDHG patients had 46,XX karyotypes. Molecular studies: For deletion analysis, somatic cell hybrids containing separated X homologues were made from EBV-transformed LBL lines of all 3 patients. Of 20 hybrids obtained from the MLS patient, only one contained the deleted X, but we recognize that a culture artifact may have occurred in LBL cells prior to fusion. There was also a suggestion of partial skewing of X-homologue representation in FDHG hybrids. The breakpoint for the MLS deletion, which arose on the paternally-derived homologue (by RFLPs), was between DXS16 and AMG; DXS70 and DXS85 were also deleted. This is consistent with reported breakpoints in other MLS patients. Neither FDHG patient was deleted at any of these loci. Our study provides a basis for additional testing in FDHG patients via somatic cell hybrids with new markers and candidate genes from the MLS critical region to confirm or negate the proposed mapping of FDHG to Xp22.3.

  5. Loss of keratinocyte focal adhesion kinase stimulates dermal proteolysis through upregulation of MMP9 in wound healing.

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    Wong, Victor W; Garg, Ravi K; Sorkin, Michael; Rustad, Kristine C; Akaishi, Satoshi; Levi, Kemal; Nelson, Emily R; Tran, Misha; Rennert, Robert; Liu, Wei; Longaker, Michael T; Dauskardt, Reinhold H; Gurtner, Geoffrey C

    2014-12-01

    To investigate how epithelial mechanotransduction pathways impact wound repair. Mechanical forces are increasingly recognized to influence tissue repair, but their role in chronic wound pathophysiology remains unknown. Studies have shown that chronic wounds exhibit high levels of matrix metalloproteinase 9 (MMP9), a key proteolytic enzyme that regulates wound remodeling. We hypothesized that epithelial mechanosensory pathways regulated by keratinocyte-specific focal adhesion kinase (FAK) control dermal remodeling via MMP9. A standard wound model was applied to keratinocyte-specific FAK knockout (KO) and control mice. Rates of wound healing were measured and tissue was obtained for histologic and molecular analyses. Transcriptional and immunoblot assays were used to assess the activation of FAK, intracellular kinases, and MMP9 in vitro. A cell suspension model was designed to validate the importance of FAK mechanosensing, p38, and MMP9 secretion in human cells. Biomechanical testing was utilized to evaluate matrix tensile properties in FAK KO and control wounds. Wound healing in FAK KO mice was significantly delayed compared with controls (closure at 15 days compared with 20 days, P = 0.0003). FAK KO wounds demonstrated decreased dermal thickness and collagen density. FAK KO keratinocytes exhibited overactive p38 and MMP9 signaling in vitro, findings recapitulated in human keratinocytes via the deactivation of FAK in the cell suspension model. Functionally, FAK KO wounds were significantly weaker and more brittle than control wounds, results consistent with the histologic and molecular analyses. Keratinocyte FAK is highly responsive to mechanical cues and may play a critical role in matrix remodeling via regulation of p38 and MMP9. These findings suggest that aberrant epithelial mechanosensory pathways may contribute to pathologic dermal proteolysis and wound chronicity.

  6. Cerebellar Hypoplasia

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    ... such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking ...

  7. Congenital optic tract hypoplasia.

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    Hatsukawa, Yoshikazu; Fujio, Takahiro; Nishikawa, Masanori; Taylor, David

    2015-08-01

    We report a case of isolated unilateral optic tract hypoplasia, described only twice previously. Bilateral optic disk hypoplasia was seen ophthalmoscopically and visual field studies showed an incongruous right homonymous hemianopia. Magnetic resonance imaging showed bilateral hypoplasia of both optic nerves and the left optic tract. Spectral domain optical coherence tomography mapping correlated well with the visual field studies.

  8. [Maxillary sinus hypoplasia].

    Science.gov (United States)

    Plaza, G; Ferrando, J; Martel, J; Toledano, A; de los Santos, G

    2001-03-01

    Maxillary sinus hypoplasia is rare, with an estimated prevalence of 1-5%. Out of the CT scans performed in sinusal patients between March 1998 and June 1999, we report on 4 isolated maxillary sinus hypoplasia, 4 maxillary sinus hypoplasia associated to concha bullosa, and 10 isolated conchae bullosas. All cases were evaluated by nasosinusal endoscopy and CT scan. Size, location and uni/bilateral presentation of concha bullosa is correlated to maxillary sinus hypoplasia presence, specially with regards to uncinate process presence, medial or lateral retraction. The pathogenesis of maxillary sinus hypoplasia is reviewed, and its relation to concha bullosa, evaluating how this could explain some cases of the so called chronic maxillary sinus atelectasia, as an acquired and progressive variant of maxillary sinus hypoplasia in adults.

  9. Unilateral pulmonary hypoplasia

    Directory of Open Access Journals (Sweden)

    Albay S

    2008-10-01

    Full Text Available Pulmonary hypoplasia represents a broad range of malformations characterized by incomplete development of lung tissue. The severity of the lesion depends on the appearance time of the malformation during the timeline of lung development, and the presence of further anatomic anomalies. In this report, we present a case of pulmonary hypoplasia in a 27-year old woman.

  10. Hypoplasia of exocrine pancreas with myocardial necrosis

    Institute of Scientific and Technical Information of China (English)

    Xiang Sheng Zhang; Xin Xiu Xu; Yan Zhang; Sbu Hua Wu

    2000-01-01

    AIM To study the clinical and pathological features of hypoplasia of exocrine pancreas with myocardialnecrosis.METHODS One ease of hypoplasia of exocrine pancreas with myocardial necrosis was autopsied. Theclinical signs and pathological changes were analyzed.RESULTS A 15-month-old boy with hypoplasia of exocrine pancreas was reported. The main clinicalfeatures were steatorrhea and marked underdevelopment. He died of acute heart failure afterhospitalization. Autopsy showed that there were aplasia of exocrine portion and fatty metaplasia ofpancreas, the myocardium revealed focal necrosis and sear formation.CONCLUSION Atrophy of exocrine pancreas and myocardial necrosis exist at the same time, suggestingthat there may be some relationship between them. It was likely that the damaged pancreatic tissue releasedsome active materials that may harm the myocardium or decrease pancreatic juice that results in lack ofnutrient and myocardial necrosis.

  11. Chronological hypoplasia: aesthetic management

    National Research Council Canada - National Science Library

    Cheranjeevi Jayam; Anila Bandlapalli; Nikunj Patel; Rama Shankar Kashinath Choudhary

    2014-01-01

    ... (multiple, symmetrical, chronological pattern). Chronological hypoplasias are seen at the time tooth erupts into the oral cavity leading to several problems like aesthetic problems, tooth sensitivity, caries and early pulpal involvement...

  12. Enamel Hypoplasia of Deciduous Canine

    OpenAIRE

    加納, 隆; 平出, 百合子; 舟津, 聡; 峯村, 隆一; 恩田, 千爾; 正木, 岳馬

    1993-01-01

    From observation of frequency and measurement of the lengths and widths of enamel hypoplasia on the maxillary and mandibular deciduous canines, extracted from 50 Indians' skulls, the following results were obtained. 1) Enamel hypoplasia occurred in 15% of the maxillary deciduous canines and 44% of the mandibular deciduous canines. 2) Symmetrical cases of enamel hypoplasia occurred in 8.0% of the maxillary deciduous canins and in 34% of the mandibular deciduous canines. The enamel hypoplasia o...

  13. Prenatal prediction of pulmonary hypoplasia.

    Science.gov (United States)

    Triebwasser, Jourdan E; Treadwell, Marjorie C

    2017-03-15

    Pulmonary hypoplasia, although rare, is associated with significant neonatal morbidity and mortality. Conditions associated with pulmonary hypoplasia include those which limit normal thoracic capacity or movement, including skeletal dysplasias and abdominal wall defects; those with mass effect, including congenital diaphragmatic hernia and pleural effusions; and those with decreased amniotic fluid, including preterm, premature rupture of membranes, and genitourinary anomalies. The ability to predict severe pulmonary hypoplasia prenatally aids in family counseling, as well as obstetric and neonatal management. The objective of this review is to outline the imaging techniques that are widely used prenatally to assess pulmonary hypoplasia and to discuss the limitations of these methods.

  14. Genetics Home Reference: lissencephaly with cerebellar hypoplasia

    Science.gov (United States)

    ... Conditions lissencephaly with cerebellar hypoplasia lissencephaly with cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, resulting in the brain ...

  15. Genetics Home Reference: Leydig cell hypoplasia

    Science.gov (United States)

    ... Home Health Conditions Leydig cell hypoplasia Leydig cell hypoplasia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Leydig cell hypoplasia is a condition that affects male sexual development. ...

  16. Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine (Japan); Haga, Yoshihiko [Department of Orthopaedics, Shizuoka Children`s Hospital, Shizuoka (Japan); Aoki, Katsuhiko [Department of Radiology, Shizuoka Children`s Hospital, Shizuoka (Japan); Hasegawa, Tomoko [Division of Clinical Genetics, Shizuoka Children`s Hospital, Shizuoka (Japan)

    1998-12-01

    A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.) With 4 figs., 8 refs.

  17. Optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Savleen Kaur

    2013-01-01

    Full Text Available Optic nerve hypoplasia (ONH is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH (65% than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. (Method of search: MEDLINE, PUBMED.

  18. [A 2-month-old child with complex tracheal hypoplasia].

    Science.gov (United States)

    De Cloedt, L; Papadopoulos, J; Corouge, P; Khalil, T; Van Laer, P

    2013-12-01

    We describe the case of a 2-month-old child with complex tracheal hypoplasia with bilateral bronchial hypoplasia and left pulmonary hypoplasia. Tracheal hypoplasia is complex when it is associated with critical stenosis, cricoid stenosis, bronchial hypoplasia, tracheal bronchus, or esophageal atresia with severe tracheomalacia. Slide tracheoplasty is the gold standard treatment for the complex tracheal hypoplasia.

  19. Genetics Home Reference: VLDLR-associated cerebellar hypoplasia

    Science.gov (United States)

    ... Conditions VLDLR-associated cerebellar hypoplasia VLDLR-associated cerebellar hypoplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description VLDLR -associated cerebellar hypoplasia is an inherited condition that affects the development ...

  20. Genetics Home Reference: X-linked adrenal hypoplasia congenita

    Science.gov (United States)

    ... X-linked adrenal hypoplasia congenita X-linked adrenal hypoplasia congenita Enable Javascript to view the expand/collapse ... Open All Close All Description X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. ...

  1. Pontocerebellar hypoplasia type 2 : a neuropathological update

    NARCIS (Netherlands)

    Barth, Peter G.; Aronica, Eleonora; de Vries, Linda; Nikkels, Peter G. J.; Scheper, Wiep; Hoozemans, Jeroen J.; Poll-The, Bwe-Tien; Troost, Dirk

    2007-01-01

    Pontocerebellar hypoplasia type 2 (PCH-2; MIM 277470), an autosomal recessive neurodegeneration with fetal onset, was studied in six autopsies with ages at death ranging between 1 and 22 years. Three patients were distantly related. A case of olivopontocerebellar hypoplasia (OPCH; MIM 225753) was st

  2. Unilateral Optic Nerve Hypoplasia with Contralateral Optic Pathway Hypoplasia: A Case Report.

    Science.gov (United States)

    Nishi, Tomo; Yukawa, Eiichi; Taoka, Toshiaki; Ogata, Nahoko

    2013-01-01

    Optic nerve hypoplasia is diagnosed by the ophthalmoscopic appearance of the fundus of the eye and by standard magnetic resonance imaging of the brain. The ability to study eyes with optic nerve hypoplasia by magnetic resonance diffusion tensor imaging has improved the evaluation of the optic pathways. The authors report a case of unilateral optic nerve hypoplasia with hypoplasia of the contralateral optic pathway. The entire visual pathway of this patient was examined by magnetic resonance and magnetic resonance diffusion tensor imaging. The images show a decrease of the volume of the optic radiation contralateral to the optic nerve abnormality and also pre- and post-chiasmal abnormalities.

  3. Condylar Aplasia and Hypoplasia: A Rare Case

    Directory of Open Access Journals (Sweden)

    Peeyush Shivhare

    2013-01-01

    Full Text Available Aplasia of condyle is very rare, when this condition not seen as a part of a syndrome. We report a case of condylar aplasia on the right side and hypoplasia on the left side in a 21-year-old female. The patient reported to the department with a chief complaint of underdeveloped lower jaw. Clinical examination, conventional radiographs, and 3D CBCT images revealed complete absence of condyle on the right side and hypoplasia on the left side.

  4. Unilateral Pulmonary Hypoplasia in a Child.

    Science.gov (United States)

    Dewan, G

    2015-01-01

    Pulmonary hypoplasia is an uncommon congenital anomaly. A case reported in a six year old male child from Bangladesh who presented with chronic dry cough, episodic fever and occasional haemoptysis causing confusion with tuberculosis. X-ray suggested lung collapse. Final diagnosis reached by combined bronchoscopy, computed tomogram scan of chest and pulmonary angiogram. In a child with complete radiological lung collapse possibility of pulmonary hypoplasia should be kept in mind.

  5. Neuropathologic features of pontocerebellar hypoplasia type 6.

    Science.gov (United States)

    Joseph, Jeffrey T; Innes, A Micheil; Smith, Amanda C; Vanstone, Megan R; Schwartzentruber, Jeremy A; Bulman, Dennis E; Majewski, Jacek; Daza, Ray A; Hevner, Robert F; Michaud, Jean; Boycott, Kym M

    2014-11-01

    Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and function of the brainstem and cerebellum. The rarity and genetic heterogeneity of this group of disorders can make molecular diagnosis challenging. We report 3 siblings who were born to nonconsanguineous parents, were hypotonic at birth, developed seizures, had repeated apneic spells, and died within 2 months of life. Neuroimaging showed that all had profound cerebellar hypoplasia and simplified cortical gyration. Genetic analysis by whole-exome sequencing demonstrated compound heterozygous mutations in the mitochondrial arginyl transfer RNA synthetase gene RARS2, indicating that the children had pontocerebellar hypoplasia type 6. Autopsies on the younger twin siblings revealed small and immature cerebella at an approximate developmental age of less than 18 weeks. The basis pontis showed regressive changes, and the medulla had marked inferior olivary hypoplasia. The brains of both twins were microencephalic and had simplified gyri; cortices were immature, and deep white matter had extensive astrocytosis. The findings suggest a near-normal embryologic period followed by midgestation developmental slowing or cessation and later regression in select anatomic regions. This is the first detailed description of neuropathologic findings associated with pontocerebellar hypoplasia type 6 and demonstrates the profound effects of RARS2 disruption during early neurodevelopment.

  6. Clinical characteristics of high grade foveal hypoplasia.

    Science.gov (United States)

    Park, Kyung-Ah; Oh, Sei Yeul

    2013-02-01

    To report clinical characteristics of high grade foveal hypoplasia. Patients with foveal hypoplasia of grade 3 or 4 on spectral domain optical coherence tomography according to a previously published scheme were enrolled. All patients underwent a full ophthalmologic assessment including visual acuity testing, slit lamp biomicroscopy, fundus examination, and evaluation of ocular alignment. The underlying causes of foveal hypoplasia were identified as albinism in five patients and aniridia in six patients. The mean logMAR visual acuity was 0.57 ± 0.24 (range 0.22-1.00) in the right eyes and 0.58 ± 0.21 (range 0.30-1.00) in the left eyes. On fundus examination in patients with albinism, two patients showed marked transparency, one patient showed moderate transparency, and two patients showed minimal transparency. Among six patients with aniridia, five patients showed normal macular pigmentation without macular reflex and one patient showed decreased macular pigmentation with no macular reflex. Patients with high grade macular hypoplasia tended to have poor visual acuities; however, the range of visual acuity was quite variable. Other factors associated with underlying disease could be the reason of this variability. Therefore, careful consideration should be given when assessing visual prognosis in foveal hypoplasia using optical coherence tomography.

  7. Complications of Dermal Filling

    Directory of Open Access Journals (Sweden)

    Sajad Ahmad Salati

    2011-11-01

    Full Text Available Dermal fillers have globally become sought after drugs due to the desire of aging population to regain the youthful looks without any surgical operations. But like other procedures, dermal filling can become complicated. Besides the profitability have introduced the factor of malpractice which can bring in misery rather than beauty and youthful body contours. This article briefly reviews the common adverse effects of dermal fillers.

  8. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Namavar, Yasmin; Barth, Peter G; Kasher, Paul R; van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y; Ferriero, Donna M; Basel-Vanagaite, Lina; Eggens, Veerle R C; Krägeloh-Mann, Ingeborg; De Meirleir, Linda; King, Mary; Graham, John M; von Moers, Arpad; Knoers, Nine; Sztriha, Laszlo; Korinthenberg, Rudolf; Dobyns, William B; Baas, Frank; Poll-The, Bwee Tien; Sival, Deborah

    2011-01-01

    Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable neocortical atrophy, ve

  9. THE SYNDROME OF AUTOSOMAL RECESSIVE PONTOCEREBELLAR HYPOPLASIA, MICROCEPHALY, AND EXTRAPYRAMIDAL DYSKINESIA (PONTOCEREBELLAR HYPOPLASIA TYPE-2) - COMPILED DATA FROM 10 PEDIGREES

    NARCIS (Netherlands)

    BARTH, PG; BLENNOW, G; LENARD, HG; BEGEER, JH; VANDERKLEY, JM; HANEFELD, F; PETERS, ACB; Valk, J.

    1995-01-01

    The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neu

  10. Tooth enamel hypoplasia in PHACE syndrome.

    Science.gov (United States)

    Chiu, Yvonne E; Siegel, Dawn H; Drolet, Beth A; Hodgson, Brian D

    2014-01-01

    Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. A study was conducted at the third PHACE Family Conference, held in Milwaukee, Wisconsin, in July 2012. A pediatric dentist examined subjects at enrollment. Eighteen subjects were enrolled. The median age was 4.2 years (range 9 mos-9 yrs; 14 girls, 4 boys). Eleven of 18 patients had intraoral hemangiomas and five of these (50%) had hypomature enamel hypoplasia. None of the seven patients without intraoral hemangiomas had enamel hypoplasia. No other dental abnormalities were seen. Enamel hypoplasia may be a feature of PHACE syndrome when an intraoral hemangioma is present. Enamel hypoplasia increases the risk of caries, and clinicians should refer children with PHACE syndrome to a pediatric dentist by 1 year of age.

  11. Enamel hypoplasia: challenges of esthetic restorative treatment.

    Science.gov (United States)

    Ruschel, Vanessa Carla; Araújo, Élito; Bernardon, Jussara Karina; Lopes, Guilherme Carpena

    2016-01-01

    Enamel defects, such as white or yellow-brown spots, usually cause problems that are more esthetic than functional. Enamel hypoplasia may be the result of hereditary, systemic, or local factors. Dental trauma is a local etiologic factor. It is relatively common in the primary dentition and can cause defects on the surface of permanent successors. Treatment for such defects can differ, depending on the depth of the spots. For deeper white-spot lesions, a composite resin restoration may be necessary. This is an excellent mode of treatment, due to both its low cost and its conservation of healthy tooth structure. The objective of this case report is to describe composite resin restoration of a maxillary central incisor affected by enamel hypoplasia.

  12. On the classification of congenital thumb hypoplasia.

    Science.gov (United States)

    Tonkin, M A

    2014-11-01

    In 1937, Müller introduced the concept of a teratological sequence of thumb hypoplasia with increasing severity from mild deficiency, through severe deficiency, to thumb absence. Blauth subsequently detailed five specific grades. In 1992, Manske and McCarroll altered Blauth's classification such that Grade 3 was sub-divided into Grades 3A and 3B, according to a presence or absence of the proximal metacarpal. Buck-Gramcko added a Grade 3C in which there was only a remnant metacarpal head. This article investigates their publications and those of others to identify 'who said what' and clarify the definitions of grades of thumb hypoplasia. A modification of Blauth's classification is proposed, which retains the integrity of the concept of Müller and the skeletal and soft tissue grading of Blauth, but which also incorporates the disparate anomalies that may present in Grades 2 and 3 hypoplastic thumbs.

  13. [Oligomeganephronic renal hypoplasia complicated by glomerulonephritis].

    Science.gov (United States)

    Kan'shina, N F; Rykov, V A; Lakhno, P A

    1990-01-01

    Clinico-anatomical data of a rare condition congenital oligomeganephronic renal hypoplasia with a glomerulonephritis as a complication are available for a 13-year-old girl who died of chronic renal failure. Large aglomerular zones consisting of primitive canaliculi in a loose stroma were observed in kidneys that were decreased in size. The glomeruli were few in number, some of them of a large size (2-2.5-fold), firmly attached to the capsule, with pronounced extracapillary proliferation.

  14. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  15. A case of amblyopia with contralateral optic nerve hypoplasia.

    Science.gov (United States)

    Frantz, Kelly A; Pang, Yi

    2013-09-01

    We describe an unusual case of unilateral optic nerve hypoplasia (ONH) in a patient with contralateral anisometropic/strabismic amblyopia. A seven-year-old boy presented with visual acuities of 6/12 R and 6/18 L and eccentric fixation in the left eye. Cycloplegic retinoscopy was R +1.50/-0.50 × 180 and L +5.25 DS. Funduscopy revealed optic nerve hypoplasia of the right eye. The patient fixated with his better-seeing right eye, despite the optic nerve hypoplasia. His reduced vision may be attributed to optic nerve hypoplasia in the right eye and amblyopia in the left. Although optic nerve hypoplasia can occur with ipsilateral amblyopia, we believe this is the first reported case of unilateral optic nerve hypoplasia in the fellow eye of an amblyopic patient.

  16. Breast hypoplasia and breastfeeding: a case history.

    Science.gov (United States)

    Thorley, Virginia

    2005-07-01

    Hypoplasia, or glandular insufficiency, of the breasts is an infrequent cause of breastfeeding failure or infant failure to thrive. Early evaluation of the breasts of early identification of infant indicators can enable mothers to breastfeed while providing appropriate supplementation to facilitate satisfactory hydration and growth. A case report is presented of a highly motivated mother with minimal breast tissue who was able to soothe four of her infants at her breasts, supplying some breastmilk, while providing the bulk of their nutritional requirements by other means. At the time of writing she is tandem breastfeeding as well as providing artificial milk by bottle.

  17. Esophageal Atresia and Tracheoesophageal Fistula with Unilateral Pulmonary Agenesis - Hypoplasia

    Directory of Open Access Journals (Sweden)

    Shraddha Verma

    2013-03-01

    Full Text Available Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA with or without tracheoesophageal fistula (TEF is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.

  18. Esophageal Atresia and Tracheoesophageal Fistula with Unilateral Pulmonary Agenesis - Hypoplasia

    Directory of Open Access Journals (Sweden)

    Katragadda Laxmi Narsimha Rao

    2013-04-01

    Full Text Available Association of unilateral severe pulmonary hypoplasia or agenesis and esophageal atresia (EA with or without tracheoesophageal fistula (TEF is an exceedingly rare and highly lethal combination. We report a case of full term male baby who had EA with TEF and right lung hypoplasia, managed at our centre. He is alive and doing well at 10 years of age.

  19. Spectral domain optical coherence tomography and microperimetry in foveal hypoplasia

    Directory of Open Access Journals (Sweden)

    Swakshyar Saumya Pal

    2011-01-01

    Full Text Available A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence tomography (SD-OCT, microperimeter and confocal scanning laser ophthalmoscope is described. This case highlights the importance of microperimeter in detecting the functional abnormalities of vision and SD-OCT in identifying the retinal laminar abnormalities in foveal hypoplasia.

  20. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Namavar, Y.; Barth, P.G.; Poll-The, B.T.; Baas, F.

    2011-01-01

    Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7). The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atr

  1. Prevalence and possible etiology of dental enamel hypoplasia.

    Science.gov (United States)

    El-Najjar, M Y; DeSanti, M V; Ozebek, L

    1978-02-01

    Two hundred black and white adult human skeletons and 200 living black and white children from the greater Cleveland area were examined for evidence of enamel hypoplasia. Enamel hypoplasia, present in varying expressings (pits, lines and grooves), was found to be more prevalent in both skeletal samples, than in the living groups. In the majority of cases, sex differences between white and black males and females through time and space are highly significant for all tooth catagories. Regardless of the mechanisms behind it, prevalence of enamel hypoplasia for both white and black group has significantly declined through time. No evidence suggesting specific etiologies responsible for enamel hypoplasia can be found. In the majority of previously published reports, the etiology is still idiopathic. The reduction in the prevalence of enamel hypoplasia in the groups examined through time may be related to improved nutritional conditions and the elimination or decline of childhood diseases that have been implicated in this condition.

  2. Brainstem hypoplasia presenting with mirror movement

    Directory of Open Access Journals (Sweden)

    Burcu Ekmekçi

    2015-09-01

    Full Text Available 20 years old female patient, who had operated from congenital syndactyly on her left hand at five age, admitted to neurology policlinic with involuntary movement on her hands. We saw mirror movement (MM when she writing, catching with her left hand. This movement is had low amplitude in the right hand than left. Cervical MRG revealed no abnormality. Brain MRG revealed right middle, inferior cerebellary peduncle, olive and pyramid hypoplasia. Mirror movement shows homolog muscle activity which simulating contralateral movement, during a spesific task. This movement is seen usually upper extremity especially in the hand. Corticospinal tract dysfunction is often considered in the pathogenesis. MM may present as part of cervico medullary junction abnormality, cerebral palsy, cerebrovasculary disease, Parkinson disease. We wanted to discuss the patogenesis of MM in our patient with syndactyly and MRG abnormality.

  3. An additional manifestation in acrocallosal syndrome: temporal lobe hypoplasia.

    Science.gov (United States)

    Aykut, A; Cogulu, O; Ekmekci, A Y; Ozkinay, F

    2008-01-01

    Acrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.

  4. Aplasia and hypoplasia of the maxillary sinus: A case series

    Directory of Open Access Journals (Sweden)

    Nasim Jafari-Pozve

    2014-01-01

    Full Text Available Maxillary sinus aplasia and hypoplasia are rare conditions that can cause symptoms such as headaches and voice alteration. The majority of patients are asymptomatic, but these conditions must be noticed for importance of differential diagnosis such as infection and neoplasms. Conventional radiographs could not differentiate between inflammatory mucosal thickening, neoplasm, and hypoplasia of the sinus. Computed tomography (CT and also cone beam computed tomography (CBCT are the proper modalities to detect these conditions. In the present study, CBCT findings of three cases with maxillary sinus hypoplasia and aplasia are reported.

  5. Brain stem hypoplasia associated with Cri-du-Chat syndrome.

    Science.gov (United States)

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu

    2013-01-01

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  6. Brain stem hypoplasia associated with Cri-du-Chat syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; Kim, Mi Young; Kang, Young Hye; Lee, Kyung Hee; Cho, Soon Gu [Dept. of Radiology, Inha University Hospital, Inha University School of Medicine, Incheon (Korea, Republic of)

    2013-12-15

    Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.

  7. Pulmonary hypoplasia presenting with recurrent wheezing in an infant.

    Science.gov (United States)

    Çeliksoy, Mehmet Halil; Tander, Burak; Aşılıoğlu, Nazik; Barış, Yakup Sancar; Yıldıran, Alişan

    2015-10-01

    Pulmonary hypoplasia is characterized by decrease in the number and size of pulmonary airways, alveoli and vessels. In autopsy, pulmonary hypoplasia is a major cause of death in neonates and infants. The disease is usually diagnosed in childhood period. Although it mimics lung parenchymal disease and other vascular abnormalities radiologically, it is easily recognized with computed tomography angiography and magnetic resonance angiography examinations. In 50% of patients, concomitant cardiovascular, neuromuscular, gastrointestinal tract, and urogenital anomalies are also available. There are two types of pulmonary hypoplasia: primary and secondary. Primary unilateral pulmonary hypoplasia may be asymptomatic and the tendency for bronchopulmonary infections is often increased in children. In this case report, a 22-month-old male patient characterized by recurrent infections and recurrent wheezes in infantile period, whose episodes of wheezing regressed after the pulmonectomy, was presented.

  8. Enamel hypoplasia in the middle pleistocene hominids from Atapuerca (Spain).

    Science.gov (United States)

    Bermúdez de Castro, J M; Pérez, P J

    1995-03-01

    The prevalence and chronology of enamel hypoplasias were studied in a hominid dental sample from the Sima de los Huesos (SH) Middle Pleistocene site at the Sierra de Atapuerca (Burgos, northern Spain). A total of 89 permanent maxillary teeth, 143 permanent mandibular teeth, and one deciduous lower canine, belonging to a minimum of 29 individuals, were examined. Excluding the antimeres (16 maxillary and 37 mandibular cases) from the sample, the prevalence of hypoplasias in the permanent dentition is 12.8% (23/179), whereas the deciduous tooth also showed an enamel defect. No statistically significant differences were found between both arcades and between the anterior and postcanine teeth for the prevalence of hypoplasias. In both the maxilla and the mandible the highest frequency of enamel hypoplasias was recorded in the canines. Only one tooth (a permanent upper canine) showed two different enamel defects, and most of the hypoplasias were expressed as faint linear horizontal defects. Taking into account the limitations that the incompleteness of virtually all permanent dentitions imposes, we have estimated that the frequency by individual in the SH hominid sample was not greater than 40%. Most of the hypoplasias occurred between birth and 7 years (N = 18, X = 3.5, SD = 1.3). Both the prevalence and severity of the hypoplasias of the SH hominid sample are significantly less than those of a large Neandertal sample. Furthermore, prehistoric hunter-gatherers and historic agricultural and industrial populations exhibit a prevalence of hypoplasias generally higher than that of the SH hominids. Implications for the survival strategies and life quality of the SH hominids are also discussed.

  9. [Phenotype analysis and the molecular mechanism of enamel hypoplasia].

    Science.gov (United States)

    Lv, Ping; Gao, Xue-jun

    2009-02-18

    Enamel hypoplasia is a surface defect of the tooth crown caused by a disturbance of enamel matrix secretion. Enamel hypoplasia may be inherited, or result from illness, malnutrition, trauma, or high concentrations of fluorides or strontium in the drinking water or food. Different types of enamel hypoplasia have been distinguished, such as pit-type, plane-type, and linear enamel hypoplasia. Hypoplasia has been related to the intensity and duration of stress events, the number of affected ameloblasts, and their position along the forming tooth crown. Amelogenesis imperfecta (AI) is a heterogeneous group of inherited defects in dental enamel formation, most teeth are affected in both the primary and permanent dentition. The malformed enamel can be unusually thin, soft, rough and stained. The strict definition of AI includes only those cases where enamel defects occur in the absence of other symptoms. Currently, there are seven candidate genes for AI: amelogenin, enamelin, ameloblastin, tuftelin, distal-less homeobox 3, enamelysin, and kallikrein 4. Since the enamel is formed according to a strict chronological sequence, and once formed, undergoes no repair or regeneration. Then the analysis the phenotype of enamel hypoplasia can provide insights of the severity of inherited or environmental stress and the molecular mechanism during the period of enamel formation.

  10. Mammary hypoplasia: not every breast can produce sufficient milk.

    Science.gov (United States)

    Arbour, Megan W; Kessler, Julia Lange

    2013-01-01

    Breast milk is considered the optimal form of nutrition for newborn infants. Current recommendations are to breastfeed for 6 months. Not all women are able to breastfeed. Mammary hypoplasia is a primary cause of failed lactogenesis II, whereby the mother is unable to produce an adequate milk volume. Women with mammary hypoplasia often have normal hormone levels and innervation but lack sufficient glandular tissue to produce an adequate milk supply to sustain their infant. The etiology of this rare condition is unclear, although there are theories that refer to genetic predisposition and estrogenic environmental exposures in select agricultural environments. Women with mammary hypoplasia may not exhibit the typical breast changes associated with pregnancy and may fail to lactate postpartum. Breasts of women with mammary hypoplasia may be widely spaced (1.5 inches or greater), asymmetric, or tuberous in nature. Awareness of the history and clinical signs of mammary hypoplasia during the prenatal period and immediate postpartum increases the likelihood that women will receive the needed education and physical and emotional support and encouragement. Several medications and herbs demonstrate some efficacy in increasing breast milk production in women with mammary hypoplasia.

  11. Dermal route in systemic exposure

    NARCIS (Netherlands)

    Benford, D.J.; Cocker, J.; Sartorelli, P.; Schneider, T.; Hemmen, J. van; Firth, J.G.

    1999-01-01

    To evaluate risk from dermal exposure, the amount of material on the skin must first be measured. The potential for dermal uptake must then be assessed for the potential health effects from systemic exposure. No standard methods exist for studying these processes, and published data are not comparab

  12. Generalized mid dermal elastolysis

    Directory of Open Access Journals (Sweden)

    Maria João Cruz

    2011-12-01

    Full Text Available Mid-dermal elastolysis (MDE is a rare skin disorder clinically characterized by the appearance of diffuse fine wrinkling, most often of the trunk and arms. This entity is distinguished from other elastolytic disorders by its characteristic selective loss of elastic fibers of the mid dermis. The aetiopathogenesis of the disease is still unclear as well as the effective treatment. Half of the cases described in the literature are associated with ultraviolet radiation exposure. Other reported triggering conditions such as urticaria, eczema and granuloma annulare suggests different eliciting inflammatory pathways. The authors describe the case of a 38-year-old woman who developed an urticarial eruption during months which progressed to generalized and severe fine wrinkling.

  13. Increased enamel hypoplasia and very low birthweight infants.

    Science.gov (United States)

    Nelson, S; Albert, J M; Geng, C; Curtan, S; Lang, K; Miadich, S; Heima, M; Malik, A; Ferretti, G; Eggertsson, H; Slayton, R L; Milgrom, P

    2013-09-01

    Birth cohort studies of developmental defects of enamel (DDE) and early childhood caries (ECC) in very low birthweight (VLBW) and normal birthweight (NBW) infants are rare. In this birth cohort of 234 VLBW and 234 NBW infants, we report the incidence of ECC and DDE at 8 and 18-20 mos of corrected age. Infant medical and maternal socio-demographic data were abstracted from medical records at birth. Dental assessments for ECC and DDE (enamel hypoplasia, demarcated and diffuse opacities) were completed at 8 and 18-20 mos. The incidence of hypoplasia was significantly higher in VLBW compared with NBW infants (8 mos, 19% vs. 2%; 18 mos, 31% vs. 8%). The incidence of ECC (International Caries Detection and Assessment System: ICDAS ≥ 2) was 1.4% (8 mos) and 12% (18-20 mos) and was similar between the VLBW and NBW groups. At both ages, using a beta-binomial regression model to control for potential confounders (maternal and infant characteristics), we found increased risk for enamel hypoplasia among the VLBW infants compared with the NBW infants. African Americans had a lower risk for enamel hypoplasia at 18-20 mos. The VLBW infants should be monitored for ECC due to the presence of enamel hypoplasia.

  14. Bone marrow hypoplasia in a cat treated with griseofulvin.

    Science.gov (United States)

    Rottman, J B; English, R V; Breitschwerdt, E B; Duncan, D E

    1991-02-01

    Three weeks after initiation of griseofulvin treatment for dermatophytosis (40 mg/kg of body weight, q 12 h), an 8-yr-old domestic shorthair cat developed depression, vomiting, and pyrexia. Abnormalities found during physical examination included bilateral mydriasis, visual impairment, grade-II/V systolic murmur and multiple areas of alopecia. The cat was pancytopenic; serum biochemical abnormalities included hyperbilirubinemia, hyperglycemia, hyponatremia, and hypokalemia, and urinalysis revealed proteinuria, glycosuria, and bilirubinuria. Examination of a bone marrow aspirate revealed profound hypoplasia of all precursors. Griseofulvin toxicosis was diagnosed on the basis of the temporal relationship of drug administration with onset of clinical, hematologic, and biochemical abnormalities and failure to identify an infective or neoplastic cause for the bone marrow hypoplasia. The condition was refractory to treatment and the cat was euthanatized. Pathologic changes in the bone marrow were consistent with severe hypoplasia of all bone marrow precursors.

  15. Radiation Induced Hypoplasia of the Mandible and Retarded Tooth Development

    Directory of Open Access Journals (Sweden)

    Monica Tuteja

    2010-01-01

    Full Text Available Few cases of radiation-induced damage to the teeth and jaws, have been reported in the literature. Radiation therapy plays an important role in the treatment of patients affected with head and neck cancer. In spite of its recognized benefits in the treatment of malignant tumors, radiation therapy has several side-effects in the head and neck region. This paper highlights a case report where hypoplasia of the mandible, trismus and stunted permanent teeth roots were observed in an 18-year-old patient who was diagnosed with parameningeal rhabdomyosarcoma—embryonal type group III at the age of 5 years. He had received radiation therapy of 50 Gy to the nasopharynx for about 1 year and was reviewed for a period of 11 years. Full mouth periapical radiographs and panoramic radiograph revealed hypoplasia of the mandible and generalized hypoplasia of the roots of the permanent teeth.

  16. Unilateral segmental odontomaxillary hypoplasia: an unusual case report

    Energy Technology Data Exchange (ETDEWEB)

    Pandey, Sushma; Pai, Keerthilatha M; Nayak, Ajay G; Vineetha, Ravindranath [Manipal College of Dental Sciences, Manipal (India)

    2011-03-15

    Facial asymmetry is not an uncommon occurrence in day to day dental practice. It can be caused by various etiologic factors ranging from facial trauma to serious hereditary conditions. Here, we report a rare case of non-syndromic facial asymmetry in a young female, who was born with this condition but was not aware of the progression of asymmetry. No relevant family history was recognized. She was also deficient in both deciduous and permanent teeth in the corresponding region of maxilla. Hence, the cause of this asymmetry was believed to be a segmental odontomaxillary hypoplasia of left maxilla accompanied by agenesis of left maxillary premolars and molars and disuse atrophy of corresponding facial musculature. This report briefly discussed the comparative features of segmental odontomaxillary hypoplasia, hemimaxillofacial dysplasia, and segmental odontomaxillary dysplasia and justified the differences between segmental odontomaxillary hypoplasia and the other two conditions.

  17. Bilateral hypoplasia of the internal carotid arteries with basilar aneurysm

    Energy Technology Data Exchange (ETDEWEB)

    Briganti, F.; Tortora, F.; Elefante, A. [Universita di Napoli Federico II, Dipartimento di Scienze Neurologiche, Cattedra di Neuroradiologia, 80131, Napoli (Italy); Maiuri, F. [Universita di Napoli Federico II, Department of Neurological Sciences, Neurosurgery Service, Napoli (Italy)

    2004-10-01

    We report a rare case of bilateral hypoplasia of the internal carotid arteries with an associated aneurysm of the basilar tip, studied by CT angiography, MR angiography and digital angiography. The patient became symptomatic with an episode of loss of consciousness, likely due to reduced blood perfusion. The other 20 reported cases of bilateral carotid hypoplasia (only four of which with an associated aneurysm) are reviewed. The findings of noninvasive procedures (including narrowing of the carotid canals on CT) may lead to a correct diagnosis before angiography is performed; they may also help to differentiate angiographic narrowing of the hypoplastic internal carotids from the string sign often observed in some acquired conditions. (orig.)

  18. Association of pulmonary artery agenesis and hypoplasia of the lung.

    Science.gov (United States)

    Vitiello, Renato; Pisanti, Chiara; Pisanti, Antonello; Silberbach, Michael

    2006-09-01

    Pulmonary artery agenesis and hypoplasia of the homolateral lung occasionally occurs as an isolated lesion, but more often has associated congenital cardiac anomalies. We present a case where pulmonary artery agenesis was the sole lesion in an asymptomatic child. Pulmonary artery agenesis should be suspected in asymptomatic patients if a plain chest X-ray shows asymmetric lung fields, lung hypoplasia, or hyperinflation of the contralateral lung. Echocardiography is the best tool to establish the diagnosis. In our opinion, invasive procedures, such as cardiac catheterization, may be postponed if there is no echocardiographic evidence of pulmonary hypertension.

  19. Trigeminal hypoplasia due to vertebrobasilar dolichoectasia: A new entity

    Directory of Open Access Journals (Sweden)

    Abhishek Jha

    2015-01-01

    Full Text Available The term "vertebrobasilar dolichoectasia" refers to anomalous dilatation of the intracranial arteries associated with elongation or tortuosity of the affected vessels. The etiology of the disease is unknown and is usually detected incidentally. The predominant clinical manifestations arise due to the mass effect of the dilated vessels and may include cranial nerve compression, extrinsic aqueductal compression, motor and sensory disturbances. Trigeminal hypoplasia is a very uncommon condition, usually described in association with Goldenhar-Gorlin syndrome and has not yet been attributed to vertebrobasilar dolichoectasia. The current case report highlights this rare association of trigeminal nerve hypoplasia and vertebrobasilar dolichoectasia, leading to hemifacial and corneal anesthesia.

  20. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.

    Science.gov (United States)

    Abumansour, Iman S; Wrogemann, Jens; Chudley, Albert E; Chodirker, Bernard N; Salman, Michael S

    2014-06-01

    Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

  1. Genetics Home Reference: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and ...

    Science.gov (United States)

    ... IMAGe syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Enable Javascript to view ... combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by ...

  2. Hypoplasia of the internal carotid artery with intercavernous anastomosis

    Energy Technology Data Exchange (ETDEWEB)

    Chen, C.J.; Wang, L.J.; Wong, Y.C. [Department of Diagnostic Radiology, Chang Gung Memorial Hospital and Medical College, 199 Tung Hwa North Road, Taipei (Taiwan, Province of China); Chen, S.T.; Hsieh, F.Y. [Department of Neurology, Chang Gung Memorial Hospital and Medical College, Taipei (Taiwan, Province of China)

    1998-04-01

    We report a symptomatic case of unilateral hypoplasia of the internal carotid artery with an intercavernous anastomosis, a very rare developmental anomaly. The symptoms were caused by occlusion of the proximal middle cerebral artery which possibly related to the haemodynamic stress caused by the anomalous intercavernous anastomosis. (orig.) With 2 figs., 20 refs.

  3. Association between enamel hypoplasia and dental caries in primary second molars: a cohort study.

    Science.gov (United States)

    Hong, L; Levy, S M; Warren, J J; Broffitt, B

    2009-01-01

    The purpose of this study was to assess the longitudinal relationships between enamel hypoplasia and caries experience of primary second molars. The study sample was 491 subjects who received dental examinations at both age 5 and 9 by the calibrated examiners. Four primary second molars (n = 1,892) were scored for the presence of enamel hypoplasia for each participant. Caries presence and number of decayed and filled surfaces (dfs) were determined at age 5 and 9. The relationships between enamel hypoplasia and caries experience were assessed. Among primary second molars, 3.9% of children and 1.7% of primary second molars had enamel hypoplasia. At age 5, 36.8% of children with hypoplasia had caries, while 16.9% of children without enamel hypoplasia had caries. At age 9, the corresponding numbers were 52.6% for children with hypoplasia and 34.5% for children without hypoplasia, respectively. At the tooth level, for age 5, 28.1% of teeth with hypoplasia had caries (mean dfs = 0.40), and 7.6% of teeth without hypoplasia had caries (mean dfs = 0.11). At age 9, the corresponding numbers were 41.9% (mean dfs = 0.76) for teeth with hypoplasia and 18.3% (mean dfs = 0.34) for teeth without hypoplasia. In multivariable logistic regression analyses, teeth of subjects with enamel hypoplasia had a significantly higher risk for caries at age 5 and 9 after controlling for other risk factors. Enamel hypoplasia appears to be a significant risk factor for caries and should be considered in caries risk assessment.

  4. Dermal uptake of petroleum substances.

    Science.gov (United States)

    Jakasa, Ivone; Kezic, Sanja; Boogaard, Peter J

    2015-06-01

    Petroleum products are complex substances comprising varying amounts of linear and branched alkanes, alkenes, cycloalkanes, and aromatics which may penetrate the skin at different rates. For proper interpretation of toxic hazard data, understanding their percutaneous absorption is of paramount importance. The extent and significance of dermal absorption of eight petroleum substances, representing different classes of hydrocarbons, was evaluated. Literature data on the steady-state flux and permeability coefficient of these substances were evaluated and compared to those predicted by mathematical models. Reported results spanned over 5-6 orders of magnitude and were largely dependent on experimental conditions in particular on the type of the vehicle used. In general, aromatic hydrocarbons showed higher dermal absorption than more lipophilic aliphatics with similar molecular weight. The results showed high variation and were largely influenced by experimental conditions emphasizing the need of performing the experiments under "in use" scenario. The predictive models overestimated experimental absorption. The overall conclusion is that, based on the observed percutaneous penetration data, dermal exposure to petroleum hydrocarbons, even of aromatics with highest dermal absorption is limited and highly unlikely to be associated with health risks under real use scenarios. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  5. Optical coherence tomographic findings in optic nerve hypoplasia

    Directory of Open Access Journals (Sweden)

    Daruchi Moon

    2013-01-01

    Full Text Available We investigated a case of unilateral optic nerve hypoplasia using spectral domain optical coherence tomography (SDOCT. Optical coherence tomography was done on both eyes using 5-line Raster scan for the fovea to analyze the retinal nerve fiber layer thickness, inner retinal layer thickness, outer retinal layer thickness, and optic disc cube scan for the disc. Retinal nerve fiber layer thickness, inner retinal layer thickness, and outer retinal layer thickness were manually measured at 21-points of each five lines, and results were compared between both eyes. Retinal nerve fiber layer thickness and inner retinal layer thickness of optic nerve hypoplasia were significantly thinner than the opposite eye, but there was no significant difference in the thickness of the outer retinal layer between both eyes.

  6. Aesthetic approach for anterior teeth with enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Josué Martos

    2012-01-01

    Full Text Available Enamel hypoplasia is a developmental defect of the enamel that is produced by a disturbance in the formation of the organic enamel matrix, clinically visible as enamel defects. Disorders that occur during the stages of enamel development and maturation reduce the amount or thickness of the enamel, resulting in white spots, tiny grooves, depressions and fissures in the enamel surface. The complexity and intensity of the dental deformity lesions will conduct the ideal treatment-associating conservative techniques. This article presents a case report of a restorative treatment of enamel hypoplasia using hybrid composite resin to mask color alteration and enamel defects. An aesthetic appearance that respects the tooth polychromatic and the self-esteem of the patient can be achieved with this approach.

  7. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

    Science.gov (United States)

    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies.

  8. Palatoglossal fusion with cleft palate and hypoplasia of cerebellar vermis

    Directory of Open Access Journals (Sweden)

    Shailesh Solanki

    2016-01-01

    Full Text Available A new-born male presented within 12 h of birth with respiratory distress. On examination and workup, he had palatoglossal fusion, cleft palate and hypoplasia of the cerebellar vermis. A 2.5 Fr endotracheal tube was inserted into the pharynx through nostril as a nasopharyngeal stent, following which his respiratory distress improved. Once child was optimised, then feeding was started by nasogastric tube and feeds were tolerated well. Elective tracheostomy and gastrostomy were done, followed by release of adhesions between the tongue and palate at a later stage. Review of literature suggests that palatoglossal fusion is uncommon and presents as an emergency. Mostly, these oral synechiae are associated with digital and/or cardiac anomaly. Other disorders associated with intra-oral synechiae include congenital alveolar synechiae, van der Woude syndrome, popliteal pterygium syndrome and oromandibular limb hypogenesis syndrome. The authors report a hitherto undescribed association of palatoglossal fusion with cleft palate and hypoplasia of the cerebellar vermis.

  9. Alar Pinning in Rigid External Distraction for Midfacial Hypoplasia.

    Science.gov (United States)

    Yu, Jenny L; Woo, Albert S

    2017-09-01

    Distraction osteogenesis with a rigid external distractor is a widely accepted treatment for midfacial hypoplasia. In this study, the authors introduce the utilization of alar pinning with the external halo distractor for maxillary advancement, in place of an oral splint. A retrospective chart review was conducted of 7 patients who successfully underwent distraction osteogenesis using the alar pinning technique. Midfacial hypoplasia was secondary to Crouzon syndrome (n = 4), Apert syndrome (n = 1), Pfeiffer syndrome (n = 1), or bacterial meningitis (n = 1). Three patients were managed with monobloc osteotomies, 2 with Le Fort III osteotomies, 1 with Le Fort III osteotomy and frontoorbital advancement, and 1 with Le Fort I osteotomy alone. Patient charts were analyzed for postoperative course and complications relating to the alar pins. Two patients had minor complications specifically related to the alar pins. One patient had concern for a mild skin infection at a pin site that resolved with oral antibiotics. The other patient had loosening of an alar pin, which did not require operative management. Retrospective chart review indicated that all patients were pleased with their results from the distraction, and no patients opted for further advancement. Utilization of alar pin sites for external distraction is a feasible and reasonable option for treatment of midfacial hypoplasia involving a Le Fort osteotomy or monobloc procedure. Fixation sites within the alar crease minimize the visibility of pin site scars and eliminate the need for a custom-made oral splint, which prevents usage of the upper dentition and frequently requires consulting a dentist or orthodontist for fabrication. Alar pinning with an external halo distraction system for management of midfacial hypoplasia has minimal complications and is an alternative to using a custom-made oral splint.

  10. Hypoplasia of the parotid gland: computed tomography sialography diagnosis.

    Science.gov (United States)

    Sun, Lisha; Sun, Zhipeng; Ma, Xuchen

    2013-10-01

    We report two unusual cases of non-syndromic hypoplasia of the parotid gland. The hypoplastic parotid gland mimicked a preauricular parotid tumor in one case and presented as an incidental image finding in the other case. Absence of the deep lobe and isthmus of the parotid parenchyma could be determined on axial computed tomography (CT) by revealing fat tissue composition of the parotid space. The underdeveloped superficial lobe of the gland was observed on three-dimensional CT sialography.

  11. Ischio-pubic-patellar hypoplasia: is it a new syndrome?

    Energy Technology Data Exchange (ETDEWEB)

    Habboub, H.K. [Department of Radiology - 3953 JPP, University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242 (United States); Thneibat, W.A. [Department of Radiology - 3953 JPP, University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242 (United States)

    1997-05-01

    Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome. (orig.). With 1 fig.

  12. Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs

    OpenAIRE

    Pérez Pérez, Valentín; Suárez-Vega, Aroa; Fuertes, M.; Benavides, Julio; Delgado, L.; Ferreras, Mª del Carmen; Arranz, Juan José

    2013-01-01

    Abstract Background Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of t...

  13. Oral rehabilitation for a patient with oligodontia and maxillary hypoplasia

    OpenAIRE

    Chung, Da-Woon; Vang, Mong-Sook; Park, Sang-Won; Lim, Hyun-Pil; Yang, Hong-So

    2009-01-01

    An 18 year old female with oligodontia and maxillary hypoplasia was treated using an interdisciplinary team approach involving orthodontists, maxillofacial surgeons and prosthodontists. Full mouth one-piece fixed partial dentures were the final restoration. The fixed partial dentures fabricated for the maxilla and mandible using the concept of a shortened dental arch resulted in improved esthetics and the masticatory function. This paper describes the treatment procedures for an oligodontia p...

  14. Measuring the strength of dermal fibroblast attachment to functionalized titanium alloys in vitro.

    Science.gov (United States)

    Pendegrass, Catherine J; Middleton, Claire A; Gordon, David; Jacob, Josh; Blunn, Gordon W

    2010-03-01

    The success of intraosseous transcutaneous amputation prostheses (ITAP) relies on soft tissue attachment to prevent infection which leads to implant failure. Fibronectin (Fn) has been shown to enhance dermal fibroblast attachment in vitro, however measurement of cell attachment strength has been indirect; using cell area and immunolocalization of focal adhesion components. In this study, we have developed a flow apparatus to assess the biophysical strength of cell attachment to biomaterials used in ITAP. We have demonstrated that dermal fibroblast attachment strength increases significantly up to 96 h and that data from direct and indirect methods of assessing cell attachment strength have a significant positive correlation. Additionally, we have used direct and indirect assessment methods to demonstrate that dermal fibroblast attachment strength is significantly greater on fibronectin-coated titanium alloy compared with uncoated controls at 1, 4, and 24 hours.

  15. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

    Directory of Open Access Journals (Sweden)

    Poll-The Bwee

    2011-07-01

    Full Text Available Abstract Pontocerebellar Hypoplasia (PCH is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up to now seven different subtypes have been reported (PCH1-7. The incidence of each subtype is unknown. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Patients have severe cognitive and motor handicaps and seizures are often reported. Treatment is only symptomatic and prognosis is poor, as most patients die during infancy or childhood. The genetic basis of different subtypes has been elucidated, which makes prenatal testing possible in families with mutations. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. The tRNA splicing endonuclease, the mitochondrial arginyl- tRNA synthetase and the vaccinia related kinase1 are mutated in the minority of PCH1 cases. These genes are involved in essential processes in protein synthesis in general and tRNA processing in particular. In this review we describe the neuroradiological, neuropathological, clinical and genetic features of the different PCH subtypes and we report on in vitro and in vivo studies on the tRNA splicing endonuclease and mitochondrial arginyl-tRNA synthetase and discuss their relation to pontocerebellar hypoplasia.

  16. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

    Science.gov (United States)

    Crahes, Marie; Saugier-Veber, Pascale; Patrier, Sophie; Aziz, Moutaz; Pirot, Nathalie; Brasseur-Daudruy, Marie; Layet, Valérie; Frébourg, Thierry; Laquerrière, Annie

    2013-07-01

    Cartilage-hair-hypoplasia is a rare autosomal recessive metaphyseal dysplasia due to RMRP (the RNA component of the RNase MRP ribonuclease mitochondrial RNA processing complex) gene mutations. So far, about 100 mutations have been reported in the promoter and the transcribed regions. Clinical characteristics include short-limbed short stature, sparse hair and defective cell-mediated immunity. We report herein the antenatal presentation of a female foetus, in whom CHH was suspected from 23 weeks' gestation, leading to a medical termination of the pregnancy at 34 weeks gestation, and thereafter confirmed by morphological and molecular studies. Post-mortem examination confirmed short stature and limbs, and revealed thymic hypoplasia associated with severe CD4 T-cell immunodeficiency along with extensive non caseating epithelioid granulomas in almost all organs, which to our knowledge has been described only in five cases. Molecular studies evidenced on one allele the most frequently reported founder mutation NR_003051: g.70A>G, which is present in 92% of Finnish patients with Cartilage Hair Hypoplasia. On the second allele, a novel mutation consisting of a 10 nucleotide insertion at position -18 of the promoter region of the RMRP gene (M29916.1:g.726_727insCTCACTACTC) was detected. The founder mutation was inherited from the father, and the novel mutation from the mother. To our knowledge, this case report represents the first detailed foetal analysis described in the literature.

  17. Beamlet focal plane diagnostic

    Energy Technology Data Exchange (ETDEWEB)

    Caird, J.A.; Nielsen, N.D.; Patton, H.G.; Seppala, L.G.; Thompson, C.E.; Wegner, P.J.

    1996-12-01

    This paper describes the major optical and mechanical design features of the Beamlet Focal Plane Diagnostic system as well as measurements of the system performance, and typical data obtained to date. We also discuss the NIF requirements on the focal spot that we are interested in measuring, and some of our plans for future work using this system.

  18. Isolated unilateral pulmonary artery hypoplasia with accompanying pulmonary parenchymal findings on CT: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Surin; Cha, Yoon Ki; Kim, Jeung Sook; Kwon, Jae Hyun; Jeong, Yun Jeong [Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang (Korea, Republic of); Kim, Seon Jeong [Dept. of Radiology, Myongji Hospital, Goyang (Korea, Republic of)

    2017-05-15

    Unilateral pulmonary artery hypoplasia or agenesis without congenital cardiovascular anomalies is rare in adults. We report a case of a 36-year-old man with isolated left unilateral pulmonary artery hypoplasia with recurrent hemoptysis. On computed tomography (CT), the left pulmonary artery showed hypoplasia with multiple collateral vessels seen in the mediastinum and the left hemithorax. Also, parenchymal bands and peripheral linear opacities were seen in the affected lung, which were probably due to chronic infarction induced by unilateral pulmonary artery hypoplasia. There are only a few reports focusing on the radiologic findings in the pulmonary parenchyma induced by unilateral pulmonary artery hypoplasia, such as parenchymal bands and peripheral linear opacities. Therefore we report this case, which focused on the CT findings in the pulmonary parenchyma due to isolated unilateral pulmonary artery hypoplasia.

  19. [A case of right pulmonary hypoplasia with congenital diaphragmatic hernia and dextrocardia].

    Science.gov (United States)

    Andou, A; Shimizu, N; Okabe, K; Date, H; Teramoto, S

    1992-10-01

    Chest X-ray of a 28-year-old woman revealed an abnormal shadow in the right lower lung field and dextrocardia, for which detailed investigation was performed. Since the CT number of the tumor shadow corresponded to that of the liver on chest CT, diaphragmatic hernia of the liver was suspected, and was confirmed by MRI and angiography of the abdomen. In addition, the pulmonary artery and vein were hypoplastic, and angiography of the pulmonary artery demonstrated pulmonary hypoplasia. This case was considered to have primary pulmonary hypoplasia, because the dextrocardia was considered to have occurred secondary to pulmonary hypoplasia and the diaphragmatic hernia of the liver was not sufficiently large to cause pulmonary hypoplasia. Pulmonary hypoplasia first diagnosed in adulthood is rare, with a clinical course and roentgenographic appearance differing from those of pulmonary hypoplasia in children.

  20. Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

    OpenAIRE

    Kobra Shiasi Arani

    2015-01-01

    Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and review articles and case reports. Results: Cartilage-Hair Hypoplasia characterized by short...

  1. Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia.

    Science.gov (United States)

    Fink, Cassandra; Borchert, Mark; Simon, Carrie Zaslow; Saper, Clifford

    2015-02-01

    This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children's Hospital Los Angeles presenting with gelastic seizures were included. The clinical and pathology characteristics include hypothalamic dysgenesis and dysfunction, but no hamartomas. Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures.

  2. Bimaxillary Oral Focal Mucinosis.

    Science.gov (United States)

    Yadav, Sunil; Malik, Sunita; Mittal, Hitesh Chander; Singh, Gurdarshan; Kamra, Hemlata

    2016-10-01

    Oral focal mucinosis is considered as oral counterpart of cutaneous focal mucinosis. The preoperative diagnosis of mucinosis is almost impossible because of its rarity and clinical similarity to other lesions of various etiologies. The histological diagnosis of oral mucinosis is important to better understand the etiopathogenesis, treatment modalities, and any recurrence of the lesion besides differentiating from the other soft tissue lesions.The purpose of this paper is to report the first case of bimaxillary involvement with dome-shaped elevated, rounded, asymptomatic, normally colored swelling in left posterior palatal mucosa and left mandibular posterior region in a 25-year old woman who was diagnosed as oral focal mucinosis histopathologically.

  3. Unilateral Glenoid Hypoplasia: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Ashish Suryawanshi

    2011-01-01

    Full Text Available Glenoid hypoplasia is a relatively rare alteration that in most cases involves the pectoral girdle in a bilateral and symmetrical manner. In general, glenoid hypoplasia is associated with skeletal changes such as hypoplasia of the humeral head or changes in the morphology of the acromion and of the coracoid. We describe a rare case of unilateral glenoid hypoplasia without instability and not involving humeral head. The patient was managed effectively with nonoperative measures that featured specific rehabilitation exercises for the shoulder.

  4. Focal neurological deficits

    Science.gov (United States)

    ... Other examples of focal loss of function include: Horner syndrome : small pupil on one side, one-sided ... 403. Read More Alertness - decreased Fine motor control Horner syndrome Hypotonia Movement - uncoordinated Muscle function loss Neurologic ...

  5. Changing the facial features of patients with Treacher Collins syndrome: protocol for 3-stage treatment of hard and soft tissue hypoplasia in the upper half of the face.

    Science.gov (United States)

    Mitsukawa, Nobuyuki; Saiga, Atsuomi; Satoh, Kaneshige

    2014-07-01

    Treacher Collins syndrome is a disorder characterized by various congenital soft tissue anomalies involving hypoplasia of the zygoma, maxilla, and mandible. A variety of treatments have been reported to date. These treatments can be classified into 2 major types. The first type involves osteotomy for hard tissue such as the zygoma and mandible. The second type involves plastic surgery using bone grafting in the malar region and soft tissue repair of eyelid deformities. We devised a new treatment to comprehensively correct hard and soft tissue deformities in the upper half of the face of Treacher Collins patients. The aim was to "change facial features and make it difficult to tell that the patients have this disorder." This innovative treatment strategy consists of 3 stages: (1) placement of dermal fat graft from the lower eyelid to the malar subcutaneous area, (2) custom-made synthetic zygomatic bone grafting, and (3) Z-plasty flap transposition from the upper to the lower eyelid and superior repositioning and fixation of the lateral canthal tendon using a Mitek anchor system. This method was used on 4 patients with Treacher Collins syndrome who had moderate to severe hypoplasia of the zygomas and the lower eyelids. Facial features of these patients were markedly improved and very good results were obtained. There were no major complications intraoperatively or postoperatively in any of the patients during the series of treatments. In synthetic bone grafting in the second stage, the implant in some patients was in the way of the infraorbital nerve. Thus, the nerve was detached and then sutured under the microscope. Postoperatively, patients had almost full restoration of sensory nerve torpor within 5 to 6 months. We devised a 3-stage treatment to "change facial features" of patients with hypoplasia of the upper half of the face due to Treacher Collins syndrome. The treatment protocol provided a very effective way to treat deformities of the upper half of the face

  6. Management of Mandibular Hypoplasia Using Distraction Osteogenesis Technique

    Institute of Scientific and Technical Information of China (English)

    陶学金; 樊敏; 凌翔; 陈卫民

    2004-01-01

    Summary: By using distraction osteogenesis technique, 3 cases of mandibular hypoplasia were treated by home-made and German-made jaw distractors: including one patient suffered from bilateral ankylosis of temporo-mandibular joint and 2 patients from deficiency of mandible. The duration of distraction osteogenesis was one month. The bone distractor was removed 3 months after operation. Satisfactory results were obtained in all 3 cases. Distraction osteogenesis can successfully be used in mandibular functional reconstruction and has much more advantages than traditional technique.

  7. Radiologic findings of the flexor pollicis longus hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Alicioglu, Banu [Trakya University Medical School, Department of Radiologyy, Edirne (Turkey)

    2007-06-15

    A case of a 10-year-old boy with hypoplasia of the flexor pollicis longus and without other associated anomalies and trauma history is reported. Flexor pollicis longus tendon anomalies are rare; several types of this congenital anomaly have been reported in the literature. The diagnosis should be considered to the conditions of a patient who was unable to flex the interphalangeal joint of the thumb. Hypoplastic thumb or absent interphalangeal joint crease may be a diagnostic feature in such cases. We preoperatively present the radiological findings of this rare congenital anomaly. Ultrasound and magnetic resonance imaging (MRI) features have never been reported in the literature. (orig.)

  8. Bilateral implantation in children with cochleovestibular nerve hypoplasia.

    Science.gov (United States)

    Oker, N; Loundon, N; Marlin, S; Rouillon, I; Leboulanger, N; Garabédian, E N

    2009-10-01

    To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant.

  9. The role of the uncinate process in sinusitis aetiology: isolated agenesis versus maxillary sinus hypoplasia.

    Science.gov (United States)

    Uluyol, S; Arslan, İ B; Demir, A; Mercan, G C; Dogan, O; Çukurova, İ

    2015-05-01

    This study aimed to evaluate the clinical significance of maxillary sinus hypoplasia and isolated agenesis of the uncinate process in sinusitis aetiology. Three patients with isolated agenesis of the uncinate process and 27 patients with 43 maxillary sinus hypoplasia variations were recruited. The frequencies of sinusitis episodes and radiological findings were compared between patient subgroups. In all, 23 type I maxillary sinus hypoplasia, 13 type II maxillary sinus hypoplasia and 7 type III maxillary sinus hypoplasia variations were detected. Patients with isolated agenesis of the uncinate process underwent antibiotic treatment an average of 7 times per year, whereas those with types I, II and III maxillary sinus hypoplasia were treated 1.57, 3.22, and 5.75 times per year, respectively, over a 5-year period. The antibiotic treatment frequency for patients with isolated agenesis of the uncinate process was significantly higher than for those with types I and II maxillary sinus hypoplasia. Isolated agenesis of the uncinate process seems to play a stronger role than types I and II maxillary sinus hypoplasia in the pathophysiology of chronic sinusitis.

  10. Indirect veneer treatment of anterior maxillary teeth with enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Devi Eka Juniarti

    2010-09-01

    Full Text Available Background: Nowadays, aesthetic rehabilitation becomes a necessity. It is affected by patient’s background, especially career, social and economic status. The aesthetic abnormality of anterior teeth i.e discoloration, malposition and malformation can affect patient’s appearance, especially during smile. These dental abnormalities, as a result, can decrease patient’s performance. Dental malformation, for instance, can be caused by developmental tooth defect, such as enamel hypoplasia. Enamel hypoplasia is a developmental defect caused by the lack of matrix amount which leads to thin and porous enamel. Enamel hypoplasia can also be caused by matrix calcification disturbance starting from the formation and development of enamel matrix causing defect and permanent changes which can occur on one or more tooth. Purpose: The aim of the study is to improve dental discoloration and tooth surface texture on anterior maxillary teeth with enamel hypoplasia by using indirect veneer with porcelain material. Case: A 20 years-old woman with enamel hypoplasia came to the Dental Hospital, Faculty of Dentistry Airlangga University. The patient wanted to improve her anterior maxillary teeth. It is clinically known that there were some opaque white spots (chalky spotted and porous on anterior teeth’s surface. Case management: Indirect veneer with porcelain material had been chosen as a restoration treatment which has excellent aesthetics and strength, and did not cause gingival irritation. As a result, the treatment could improve the confidence of the patient, and could also make their function normal. Conclusion: Indirect veneer is an effective treatment, which can improve patient’s appearance and self confidence.Latar belakang: Saat ini perbaikan estetik menjadi suatu kebutuhan. Kebutuhan akan estetik dipengaruhi latar belakang penderita, terutama karir, status sosial dan ekonomi. Hal ini disebabkan, kelainan estetik seperti diskolorasi, malposisi

  11. Dermal absorption of chlorpyrifos in human volunteers

    NARCIS (Netherlands)

    Meuling, W.J.; Ravensberg, L.C.; Roza, L.; Hemmen, J.J. van

    2005-01-01

    Objective: The methods and results are described of a study on the dermal absorption of chlorpyrifos (CPF) in humans established via urinary excretion of the metabolite 3,5,6-trichloro-2-pyridinol (TCP). Methods: Two dermal, single, doses of CPF were applied in two study groups (A and B) each

  12. Biomechanical properties of four dermal substitutes

    Institute of Scientific and Technical Information of China (English)

    ZHANG Guo-an; NING Fang-gang; ZHAO Nan-ming

    2007-01-01

    @@ Many kinds of cell-free dermal substitutes have been developed during the past several years, however,their biomechanical properties, including hysteresis,stress relaxation, creep, and non-linear stress-strain, are still unknown. In this study, we tested these biomechanical characteristics of four dermal substitutes,and compared them with those of fresh human skin (FHS).

  13. From dermal exposure to internal dose

    NARCIS (Netherlands)

    Sandt, J.J.M. van de; Dellarco, M.; Hemmen, J.J. van

    2007-01-01

    Exposure scenarios form an essential basis for chemical risk assessment reports under the new EU chemicals regulation REACH (Registration, Evaluation, Authorisation and restriction of Chemicals). In case the dermal route of exposure is predominant, information on both exposure and dermal bioavailabi

  14. [Focal epithelial hyperplasia].

    Science.gov (United States)

    Vera-Iglesias, E; García-Arpa, M; Sánchez-Caminero, P; Romero-Aguilera, G; Cortina de la Calle, P

    2007-11-01

    Focal epithelial hyperplasia is a rare disease of the oral mucosa caused by the human papilloma virus (HPV). It appears as a benign epithelial growth, usually in the mucosa of the lower lip. It is mainly associated with HPV serotypes 13 and 32 and there is a clear racial predilection for the disease in Native Americans and Eskimos. We describe the case of a 17-year-old girl from Ecuador with multiple papular lesions in both lips that were clinically and histologically consistent with focal epithelial hyperplasia. Analysis by polymerase chain reaction detected HPV serotype 13.

  15. SNAP focal plane

    Energy Technology Data Exchange (ETDEWEB)

    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. Bone marrow hypoplasia associated with fenbendazole administration in a dog.

    Science.gov (United States)

    Gary, Anthony T; Kerl, Marie E; Wiedmeyer, Charles E; Turnquist, Susan E; Cohn, Leah A

    2004-01-01

    A 1.5-year-old Doberman pinscher was presented with sudden-onset of fever and malaise. Twelve days prior to presentation, fenbendazole therapy was initiated for a suspected lungworm infection. Results of a complete blood count on presentation showed pancytopenia, while histopathological evaluation of a bone marrow core sample revealed bone marrow hypoplasia of undetermined etiology. Bactericidal antibiotics and fluid therapy, as well as discontinuation of fenbendazole administration, led to a complete resolution of clinical and hematological abnormalities within 15 days. An idiosyncratic reaction to fenbendazole was suspected based on the absence of infectious, neoplastic, autoimmune, and toxic etiologies, as well as resolution of clinical signs and pancytopenia upon drug withdrawal.

  17. Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia.

    Science.gov (United States)

    Shah, Krupa; Shah, Hitesh

    2016-08-16

    Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia to total absence of the tibia. Several classifications based on radiological description exist in the literature. The tibial hemimelia is usually described with preaxial mirror polydactyly, split hand/foot syndrome-ectrodactyly, polydactyly-triphalangeal thumb syndrome (Werner syndrome) and micromelia-trigonal brachycephaly syndrome. We describe a child with unclassified tibial hemimelia. The child had right incomplete tibial hemimelia with bifid tibia, left complete tibial hemimelia, bilateral split hands and left split foot. This is the first report of the bifid tibia in the literature.

  18. Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

    Science.gov (United States)

    Garcia, M Lourdes; Ty, Edna B; Taban, Mehryar; David Rothner, A; Rogers, Douglas; Traboulsi, Elias I

    2006-11-01

    To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies were obtained in 65 cases. Visual acuity and associated ocular, neurologic, endocrine, systemic, and structural brain abnormalities were recorded. Seventy-five percent had bilateral optic nerve hypoplasia. Conditions previously associated with optic nerve hypoplasia and present in our patients include premature birth in 21%, fetal alcohol syndrome in 9%, maternal diabetes in 6%, and endocrine abnormalities in 6%. Developmental delay was present in 32%, cerebral palsy in 13%, and seizures in 12%. Of those imaged, 60% had an abnormal study. Neuroimaging showed abnormalities in ventricles or white- or gray-matter development in 29 patients, septo-optic dysplasia in 10, hydrocephalus in 10, and corpus callosum abnormalities in 8. There was an associated clinical neurologic abnormality in 57% of patients with bilateral optic nerve hypoplasia and in 32% of patients with unilateral optic nerve hypoplasia. Patients with unilateral and bilateral optic nerve hypoplasia frequently have a wide range and common occurrence of concomitant neurologic, endocrine, and systemic abnormalities.

  19. A Rare Presentation of Right Lung Hypoplasia Associated with Dextrocardia and Visceral Malposition

    Directory of Open Access Journals (Sweden)

    Ayşe Yıldırım

    2012-08-01

    Full Text Available Lung hypoplasia is often associated with pulmonary venous return abnormalities, referred to as the Scimitar syndrome, in pediatric patients. A two day-old male patient presented to our clinic with respiratory distress and mild cyanosis. Diagnostic studies revealed dextrocardia, right sided hypoplasia of upper and middle lung lobes and enlargement of the left lung due to the compensation, midline liver, right sided stomach and right sided spleen. No pulmonary venous return abnormalities were detected. This is the first report of lung hypoplasia associated with heterotaxy, visceral malposition and normal pulmonary venous return.

  20. [Hypoplasia adrenal congenita of anencephalic type: two cases with pituitary abnormalities and review of literature].

    Science.gov (United States)

    Folligan, K; Roume, J; Razavi, F; Sepaniak, S; Bouvier, R; Morel, Y; Trouillas, J

    2011-03-01

    Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found.

  1. Focal and generalized alopecia.

    Science.gov (United States)

    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.

  2. Proximal Focal Femoral Deficiency

    OpenAIRE

    Vishal Kalia, Vibhuti

    2008-01-01

    Proximal focal femoral deficiency (PFFD) is a developmental disorder of the proximal segment of thefemur and of acetabulum resulting in shortening of the affected limb and impairment of the function. It isa spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximalfemur. The diagnosis is often made by radiological evaluation which includes identification and descriptionof PFFD and evaluation of associated limb anomalies by plain radiographs. Contra...

  3. Oral focal epithelial hyperplasia.

    Science.gov (United States)

    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.

  4. Dermal benefits of topical D-ribose

    Directory of Open Access Journals (Sweden)

    Linda M Shecterle

    2009-09-01

    Full Text Available Linda M Shecterle, John A St. CyrJacqmar, Inc., Minneapolis, MN, USAAbstract: Our aging skin undergoes changes with reductions in collagenous and elastic fibers, fibroblasts, mast cells, and macrophages with free radical production, which can result in reduced skin tone and wrinkle formation. Fibroblasts are important for dermal integrity and function with a decrease in function producing less skin tone, thinning, and wrinkle formation. Dermal levels of adenosine triphosphate (ATP decline with aging, potentially altering dermal function. Supplemental D-ribose, a natural occurring carbohydrate, enhances ATP regeneration. D-ribosebased studies demonstrated benefits in both cell culture fibroblastic activities and a subsequent clinical study in women with decreased skin tone with wrinkles. Supplemental D-ribose may offer this needed cellular benefit.Keywords: dermal, fibroblast, ATP, aging, wrinkles

  5. Antioxidant Nanoplatforms for Dermal Delivery: Melatonin.

    Science.gov (United States)

    Milán, Aroha Belen Sánchez; Campmany, Ana C Calpena; Naveros, Beatriz Clares

    2017-02-22

    Melatonin (MLT) is emerging as a promising therapeutic agent, mainly due to its role as antioxidant. Substantial evidences show that melatonin is potentially effective on a variety of diseases as cancer, inflammation and neurodegenerative diseases. The excellent antioxidant capacity with pharmacokinetics characteristics and the emerging search for new pharmaceutical nanotechnology based systems, make it particularly attractive to elaborate nanoplatforms based on MLT for biomedical or cosmetic dermal applications. Different nanosystems for dermal delivery have been investigated. These nanosystems are expected to play a significant role in the protection of therapeutic functions of MLT, enhanced transdermal permeability and dermal delivery profiles. These nanocarriers not only transport MLT, but also increase the solubility, bioavailability, half-life and antioxidant activity. In the current review, we will focus on nanocarrier production strategies, dermal MLT application and delivery advances in vivo and in vitro. Equally, future perspectives of this assisted MLT delivery will be also discussed.

  6. Dermal administration of manganese porphyrin by iontophoresis.

    Science.gov (United States)

    Ito, Fuminori; Imamura, Shinya; Asayama, Shoichiro; Kanamura, Kiyoshi; Kawakami, Hiroyoshi

    2014-08-01

    The present study describes a technique for dermal administration of cationic manganese porphyrin (Mn-porphyrin), an antioxidant with superoxide dismutase (SOD) activity, in hairless mouse. In general, the stratum corneum on the surface of the skin represents a barrier to passive diffusion of therapeutic agents by standard dermal administration. The present study investigated whether, dermal administration of Mn-porphyrin solution using iontophoresis, the electrical dermal administration technique, could overcome this barrier. We visually confirmed that Mn-porphyrin had penetrated to the reverse side of the hairless mouse skin after iontophoresis for a short period. With prolonged iontophoresis, the ratio of detectable Mn-porphyrin solution on the reverse side of the hairless mouse skin increased. In the future, this technique could provide an innovative approach for delivery of this antioxidant in intractable disease.

  7. Focal cortical dysplasia - review.

    Science.gov (United States)

    Kabat, Joanna; Król, Przemysław

    2012-04-01

    Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults.Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed - from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized.Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe.Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes.New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life.Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias.THE MOST COMMON FINDINGS ON MRI IMAGING INCLUDE: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy.However, in type I cortical dysplasia, MR imaging is often normal, and also in both types

  8. Prenatal prediction of pulmonary hypoplasia: clinical, biometric, and Doppler velocity correlates

    NARCIS (Netherlands)

    J.A.M. Laudij (Jacqueline); D. Tibboel (Dick); S.G.F. Robben (Simon); R.R. de Krijger (Ronald); M.A.J. de Ridder (Maria); J.W. Wladimiroff (Juriy)

    2002-01-01

    textabstractOBJECTIVES: To determine the value of pulmonary artery Doppler velocimetry relative to fetal biometric indices and clinical correlates in the prenatal prediction of lethal lung hypoplasia (LH) in prolonged (>1 week) oligohydramnios. METHODS: Forty-two singleton pregnanc

  9. Prenatal prediction of pulmonary hypoplasia: clinical, biometric, and Doppler velocity correlates

    NARCIS (Netherlands)

    J.A.M. Laudij (Jacqueline); D. Tibboel (Dick); S.G.F. Robben (Simon); R.R. de Krijger (Ronald); M.A.J. de Ridder (Maria); J.W. Wladimiroff (Juriy)

    2002-01-01

    textabstractOBJECTIVES: To determine the value of pulmonary artery Doppler velocimetry relative to fetal biometric indices and clinical correlates in the prenatal prediction of lethal lung hypoplasia (LH) in prolonged (>1 week) oligohydramnios. METHODS: Forty-two singleton

  10. Le Fort II midfacial distraction combined with orthognathic surgery in the treatment of nasomaxillary hypoplasia.

    Science.gov (United States)

    Yu, Hongbo; Dai, Jiewen; Wang, Xudong; Zhang, Wenbin; Shen, Steve Guofang

    2014-05-01

    Patients with nasomaxillary hypoplasia have severe facial concavity and compromised skeletal class III malocclusion. Its treatment is still a challenge to surgeons. Our aim was to evaluate the combination of midfacial distraction and orthognathic surgery in the treatment of nasomaxillary hypoplasia. Four patients with nasomaxillary hypoplasia were enrolled in this study. After Le Fort II osteotomy, the rotational distraction of nasomaxillary complex was performed to rehabilitate facial convexity. Then bilateral sagittal split ramus osteotomy with or without Le Fort I osteotomy was used to correct malocclusion. All patients healed uneventfully, and the maxillae moved forward conspicuously. No obvious pain and severe discomfort were complained during distraction. A significant advancement and downward movement of the maxilla were shown by cephalometric analysis. The combination of midfacial distraction and orthognathic surgery provides us an ideal alternative in the treatment of nasomaxillary hypoplasia.

  11. Congenital hypoplasia of the lumbar pedicle with spondylolisthesis: report of 2 cases.

    Science.gov (United States)

    Hsieh, Chang-Sheng; Lee, Sang-Ho; Lee, Hyung Chang; Oh, Hyeong-Seok; Hwang, Byeong-Wook; Park, Sang-Joon; Chen, Jian-Han

    2017-04-01

    Congenital hypoplasia of the spinal pedicle is a rare condition. Previously reported cases were treated conservatively or with posterior instrumented fusion. However, the absence or hypoplasia of the lumbar pedicle may increase the difficulty of pedicle screw fixation and fusion. Herein, the authors describe 2 cases of rare adult congenital hypoplasia of the right lumbar pedicles associated with spondylolisthesis. The patients underwent anterior lumbar interbody fusion with a stand-alone cage as well as percutaneous pedicle screw fixation. This method was used to avoid the difficulties associated with pedicle screw fixation and to attain solid fusion. Both patients achieved satisfactory outcomes after a minimum of 2 years of follow-up. This method may be an alternative for patients with congenital hypoplasia of the lumbar spinal pedicle.

  12. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius)

    Science.gov (United States)

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective fo...

  13. Isolated left ventricular apical hypoplasia with infundibular pulmonary and aortic stenosis: A rare combination

    Energy Technology Data Exchange (ETDEWEB)

    Moon, Jin Il; Jeong, Yeon Joo; Lee, Gee Won; Choi, Jung Hyun; Lee, Ji Won [Medical Research Institute, Pusan National University Hospital, Busan (Korea, Republic of)

    2013-12-15

    Isolated left ventricular (LV) apical hypoplasia is a rare congenital cardiac anomaly which is not accompanied by other cardiac abnormalities, with the exception of two cases. We report a case of a 33-year-old male patient with isolated LV apical hypoplasia combined with infundibular pulmonary stenosis and aortic stenosis. We review a literature focusing on the characteristic magnetic resonance features and combined cardiac abnormalities.

  14. Anatomical vertebral artery hypoplasia and insufficiency impairs dynamic blood flow regulation.

    Science.gov (United States)

    Sato, Kohei; Yoneya, Marina; Otsuki, Aki; Sadamoto, Tomoko; Ogoh, Shigehiko

    2015-11-01

    Recent studies have suggested that vertebral artery (VA) hypoplasia is a predisposing factor for posterior cerebral stroke. We examined whether anatomical vertebrobasilar ischemia, i.e., unilateral VA hypoplasia and insufficiency, impairs dynamic blood flow regulation. Twenty-eight female subjects were divided into three groups by defined criteria: (i) unilateral VA hypoplasia (n = 8), (ii) VA insufficiency (n = 6), and (iii) control (n = 14). Hypoplastic VA criterion was VA blood flow of 40 ml min(-1) , whereas VA insufficiency criterion was net (left + right) VA blood flow of 100 ml min(-1) or less. We evaluated left, right, and net VA blood flows by ultrasonography during hypercapnia, normocapnia, and hypocapnia to evaluate VA CO2 reactivity. The unilateral VA hypoplasia group showed lower CO2 reactivity at hypoplastic VA than at non-hypoplastic VA (2.65 ± 0.58 versus 3.00 ± 0.48% per mmHg, P = 0.027) and net VA CO2 reactivity was preserved (Unilateral VA hypoplasia, 2.95 ± 0.48 versus Control, 2.93 ± 0.42% per mmHg, P = 0.992). However, the VA insufficiency group showed a lower net VA CO2 reactivity compared to the control (2.29 ± 0.55 versus 2.93 ± 0.42% per mmHg, P = 0.032) and the unilateral VA hypoplasia (P = 0.046). VA hypoplasia reduced CO2 reactivity, although non-hypoplastic VA may compensate this regulatory limitation. In subjects with VA insufficiency, lowered CO2 reactivity at the both VA could not preserve normal net VA CO2 reactivity. These findings provide a possible physiological mechanism for the increased risk of posterior cerebral stroke in subjects with VA hypoplasia and insufficiency.

  15. Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.

    Science.gov (United States)

    Golden, Eleza T; Alazraki, Adina; Loewen, Jonathan; Braithwaite, Kiery

    2016-01-01

    Sternal cleft anomalies are rare. Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome. There is only a single report of complete sternal cleft, pectus excavatum, and right clavicular hypoplasia in an adult. Thyroid hemiagenesis is also very rare. To our knowledge, this is the first case of complete sternal cleft, pectus deformity, and right clavicular hypoplasia in a child and the first case with right thyroid hemiagenesis.

  16. Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

    Directory of Open Access Journals (Sweden)

    Kobra Shiasi Arani

    2015-01-01

    Full Text Available Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and review articles and case reports. Results: Cartilage-Hair Hypoplasia characterized by short-limb dwarfism associated with metaphyseal chondrodysplasia. The inheritance is autosomal recessive. Other findings include hair hypoplasia, anemia, immunodeficiency, propensity to infections, gastrointestinal disorders (Hirschsprung disease, anal stenosis, esophageal atresia and malabsorption, defective spermatogenesis, increased risk of malignancies and higher rate of mortality. Immunodeficiency in cartilage-hair hypoplasia may be an isolated B-cell or isolated T-cell immunodeficiency or combined B and T-cell immunodeficiency; however, severe combined immunodeficiency is rare. There is no known treatment for hair hypoplasia. Growth hormone was used with conflicting results for short stature in children with Cartilage-hair hypoplasia. Skeletal problems must be managed with physiotherapy and appropriate orthopedic interventions. Hirschsprung disease, anal stenosis and esophageal atresia should be surgically corrected. Patients with severe hypoplastic anemia require repeated transfusions. Bone marrow transplantation may be required for patients with severe combined immunodeficiency or severe persistent hypoplastic anemia. Treatment with G-CSF is useful for neutropenia. Patients should be monitored closely for developing malignancy such as skin neoplasms, lymphomas and leukemias. Conclusions: Cartilage-hair hypoplasia is an important hereditary disease with different medical aspects. The high rate of consanguineous marriages in Iran necessitates considering CHH in any

  17. Frequency and Distribution of Enamel Hypoplasia in Ancient Skulls from Different Eras and Areas in Greece

    Directory of Open Access Journals (Sweden)

    Vasiliki Ζafiri

    2012-01-01

    Full Text Available This study presents an anthropological analysis of enamel hypoplasias form from 309 skulls fromarchaeological excavations in various geographical areas of the Hellenic landscape belonging todifferent chronological periods. The sample comprises a total of 1386 permanent teeth of differentmorphological types were recognized and graded as to the feature of enamel hypoplasia The examineof the enamel hypoplasia is based on macroscopic observation. The diagram used for the evaluation ofthis feature was the one proposed by Brothwell in 1971. The frequency of enamel hypoplasia in thedentition of ancient skulls from Greece is relatively restricted. Of the total of 1386 teeth examined, 323teeth of the upper jaw displayed the characteristic linear hypoplasia which corresponds to 23.2 % of allcases. In particular, in the skull series we examined the greatest disruption of enamel formation wasfound on the canines of the upper jaw, while it also exists, albeit at a declining frequency, in the firstmolars, the second molars, followed by the lateral incisors and central incisors as well as the thirdmolars. In the first molars, the frequency of hypoplasia is consistently high in the teeth of these skullsfrom all three periods examined (antiquity, the middle ages and the new age.

  18. [Pollicization of the Index Finger in Patients with Congenital Thumb Hypoplasia].

    Science.gov (United States)

    Moser, U; Singer, G; Schmidt, B; Spendel, S

    2016-08-01

    Congenital thumb hypoplasia is a radial deficiency occurring in the form of sole dysplasia or in combination with additional aberrations. Thumb hypoplasia can be categorised into 5 grades ranging from mild deformity to complete absence of the thumb. Thumb hypoplasia leads to a disturbance of grip function depending on its severity. The choice of treatment is based on the degree of thumb hypoplasia. For hypoplasia greater than grade 3B, restoration of the thumb using pollicization of the index finger is the treatment of choice. For this purpose the index finger is transformed into a thumb and is transposed to the position of the thumb with vessels and nerves being retained. The skeleton has to be shortened, rotated and abducted, followed by reconstruction of the muscles in line with the function of the new thumb. This procedure facilitates a restoration with maximal stability, sensitivity and mobility. In cases of isolated thumb hypoplasia, pollicization of the index finger yields good results persisting into adulthood. If associated aberrations are present, the outcome is less predictable because of the preexistent stiffness of the index finger. Nevertheless, associated aberrations do not represent a contraindication for index finger pollicization.

  19. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Jennifer L. Flint

    2013-01-01

    Full Text Available We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH. The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS locus and the AHC locus on the X chromosome revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

  20. Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

    Science.gov (United States)

    Toelle, Sandra P; Poretti, Andrea; Weber, Peter; Seute, Tatjana; Bromberg, Jacoline E C; Scheer, Ianina; Boltshauser, Eugen

    2015-12-01

    Unidentified bright objects (UBO) and tumors are well-known cerebellar abnormalities in neurofibromatosis type 1 (NF1). Literature reports on malformative cerebellar anomalies in neurofibromatosis type 1 (NF1), however, are scant. We retrospectively studied the clinical and neuroimaging findings of 5 patients with NF1 (4 females, age 6 to 29 years at last follow-up) and cerebellar anomalies. Cerebellar symptoms on neurological examination were mild or even not evident whereas learning disabilities were more or less pronounced in four patients. Two patients had cerebellar hypoplasia (diffusely enlarged cerebellar interfoliar spaces) and three cerebellar dysmorphias involving mainly one cerebellar hemisphere. In NF1, malformative cerebellar anomalies are rare (estimated prevalence of about 1%), but most likely underestimated and easily overlooked, because physicians tend to focus on more prevalent, obvious, and well-known findings such as optic pathway gliomas, other tumors, and UBO. This kind of cerebellar anomaly in NF1 has most likely a malformative origin, but the exact pathogenesis is unknown. The individual clinical significance is difficult to determine. We suggest that cerebellar anomalies should be systematically evaluated in neuroimaging studies of NF1 patients.

  1. Site-specific rectocele repair with dermal graft augmentation: comparison of porcine dermal xenograft (Pelvicol) and human dermal allograft.

    Science.gov (United States)

    Biehl, Roger C; Moore, Robert D; Miklos, John R; Kohli, Neeraj; Anand, Indu S; Mattox, T Fleming

    2008-01-01

    This study is a retrospective chart review comparing 195 women who underwent rectocele repair with either a porcine dermal xenograft or human allogenic cadaveric dermal graft augmentation over a two year period. A site-specific defect repair was completed prior to augmentation with the graft. Examinations were performed preoperatively and postoperatively using the pelvic organ prolapse quantification system. Questionnaires were used to assess constipation and dyspareunia. De novo dyspareunia and cure rates for constipation and dyspareunia were not statistically different between the two groups. Site-specific fascial rectocele repairs with xenograft or allograft augmentation were found to have similar complication rates as well as objective and subjective cure rates.

  2. Systemic focal epileptogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Remler, M.P.; Marcussen, W.H.

    1986-01-01

    Rats that receive radiation to 0.25 cc of one cerebral hemisphere are clinically and electroencephalographically normal until there is a breakdown of the blood-brain barrier (BBB) at 3 to 6 months postradiation. This BBB lesion can be detected by transient focal seizure activity produced by the BBB-excluded systemic convulsant bicuculline methiodide. In two rats the seizure activity induced by this one injection was self-sustaining. In seven of 15 other rats tested, the subsequent administration of repeated 2 mg/kg injections created a chronic focus that continued to spike with great frequency for 3 weeks or more without further administration of any convulsant. In three of eight other rats, implanted minipumps delivering 180 micrograms/h of bicuculline methiodide produced self-sustaining epileptic activity.

  3. Focal femoral condyle resurfacing.

    LENUS (Irish Health Repository)

    Brennan, S A

    2013-03-01

    Focal femoral inlay resurfacing has been developed for the treatment of full-thickness chondral defects of the knee. This technique involves implanting a defect-sized metallic or ceramic cap that is anchored to the subchondral bone through a screw or pin. The use of these experimental caps has been advocated in middle-aged patients who have failed non-operative methods or biological repair techniques and are deemed unsuitable for conventional arthroplasty because of their age. This paper outlines the implant design, surgical technique and biomechanical principles underlying their use. Outcomes following implantation in both animal and human studies are also reviewed. Cite this article: Bone Joint J 2013;95-B:301-4.

  4. Extensive focal epithelial hyperplasia.

    Science.gov (United States)

    Hashemipour, Maryam Alsadat; Shoryabi, Ali; Adhami, Shahrzad; Mehrabizadeh Honarmand, Hoda

    2010-01-01

    Heck's disease or focal epithelial hyperplasia is a benign contagious disease caused by human papillomavirus types 13 or 32. It occurs with low frequency in the Iranian population. This condition is characterized by the occurrence of multiple, small papules or nodules in the oral cavity, especially on the labial and buccal mucosa and tongue. In some populations, up to 39% of children are affected. Conservative surgical excision of lesions may be performed for diagnostic or aesthetic purposes. The risk of recurrence after this therapy is minimal, and there seems to be no malignant transformation potential. In the present work, we presented the clinical case of a 12-year-old Iranian girl with oral lesions that clinically and histologically correspond to Heck's disease.

  5. Proximal Focal Femoral Deficiency

    Directory of Open Access Journals (Sweden)

    Vishal Kalia, Vibhuti

    2008-01-01

    Full Text Available Proximal focal femoral deficiency (PFFD is a developmental disorder of the proximal segment of thefemur and of acetabulum resulting in shortening of the affected limb and impairment of the function. It isa spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximalfemur. The diagnosis is often made by radiological evaluation which includes identification and descriptionof PFFD and evaluation of associated limb anomalies by plain radiographs. Contrast arthrography orMagnetic Resonance Imaging is indicated when radiological features are questionable and to disclose thepresence and location of the femoral head and any cartilagenous anlage. The disorder is more commonlyunilateral and is apparent at birth. However, bilateral involvement is rarely seen. Therapy of the disorder isdirected towards satisfactory ambulation and specific treatment depending on the severity of dysplasia.

  6. Two cases of pontocerebellar hypoplasia: ethical and prenatal diagnostic dilemma.

    Science.gov (United States)

    Ajibola, Ayodeji J; Netzloff, Michael; Samaraweera, Ranji; Omar, Said A

    2010-02-01

    We report the clinical characteristics and the outcome of two cases of pontocerebellar hypoplasia (PCH) in one family. The objective of this report is to describe the mode of presentation, discuss the clinical course, and address the dilemma of prenatal diagnosis and the prospects for genetic diagnosis for PCH. The first case is a 4-year-old boy in whom the diagnosis was made in the neonatal period. Despite extensive prenatal follow-up during the mother's subsequent pregnancy, prenatal diagnosis could not be made and a second affected child was born. Both siblings have severe developmental delay. The cases raise an important ethical dilemma about the most appropriate intervention if the mother of a child affected with PCH becomes pregnant. PCH is considered to have an autosomal-recessive mode of inheritance and a recurrence risk of 25% in each pregnancy. Until recently when genetic mutations in PCH types 2, 4, and 6 began to be identified, the lack of well-recognized genetic testing precluded experts from making clear recommendations. The best advice to these parents was difficult or elusive. With two children currently affected, should the parents terminate or continue with the latest pregnancy? Extensive monitoring with serial prenatal ultrasound failed in the previous pregnancy and resulted in the birth of the second affected child. It is evident that serial ultrasound scan may not be helpful in making the diagnosis prenatally. Therefore, other diagnostic modalities such as magnetic resonance imaging may be necessary and should be considered. With the identification of genetic basis or mutations in PCH types 2, 4, and 6 and possible development of commercial genetic testing for these types of PCH, reproductive decision or genetic testing during pregnancy should be recommended to affected families to enable informed choices. Thieme Medical Publishers.

  7. Statistical earthquake focal mechanism forecasts

    CERN Document Server

    Kagan, Yan Y

    2013-01-01

    Forecasts of the focal mechanisms of future 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 degree spatial resolution, covering the latitude range magnitude, and focal mechanism. In previous publications we reported forecasts of 0.5 degree spatial resolution, covering the latitude range from -75 to +75 degrees, based on the Global Central Moment Tensor earthquake catalog. In the new forecasts we've improved the spatial resolution to 0.1 degree 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 grid point. Simultaneously we calculate an average rotation angle between the forecasted mechanism and all the surrounding mechanisms, using the method ...

  8. Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.

    NARCIS (Netherlands)

    Prescott, T.; Devriendt, K.; Hamel, B.C.J.; Pasch, M.C.; Peeters, H.; Poorten, V.L. van der; Talleras, O.

    2006-01-01

    We present three unrelated children with distinctive congenital facial skin lesions. All three children had two to three well-circumscribed, round or oval vesicular lesions, 1/2-1 cm in diameter on each cheek at birth. The lesions were located along an arc from the top of the ear to the corner of th

  9. New in vitro dermal absorption database and the prediction of dermal absorption under finite conditions for risk assessment purposes

    NARCIS (Netherlands)

    Buist, H.E.; Burgsteden, J.A. van; Freidig, A.P.; Maas, W.J.M.; Sandt, J.J.M. van de

    2010-01-01

    Most QSARs for dermal absorption predict the permeability coefficient, Kp, of a molecule, which is valid for infinite dose conditions. In practice, dermal exposure mostly occurs under finite dose conditions. Therefore, a simple model to predict finite dose dermal absorption from infinite

  10. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    Science.gov (United States)

    Thavarajah, Harshithaa

    2017-01-01

    Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks' gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks' gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder. PMID:28251002

  11. Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism

    Directory of Open Access Journals (Sweden)

    Harshithaa Thavarajah

    2017-01-01

    Full Text Available Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks’ gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks’ gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.

  12. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

    Science.gov (United States)

    Halwai, Hemant Kumar

    2017-01-01

    Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association. PMID:28377826

  13. Isolated Left Ventricular Apical Hypoplasia with Right Ventricular Outflow Tract Obstruction: A Rare Combination.

    Science.gov (United States)

    Zhao, Yonghui; Zhang, Jiaying; Zhang, Jing

    2015-09-01

    Isolated left ventricular (LV) apical hypoplasia is a unusual and recently recognized congenital cardiac anomaly. A 19-year-old man was found to have an abnormal ECG and cardiac murmur identified during a routine health check since joining work. His ECG revealed normal sinus rhythm, right-axis deviation, poor R wave progression, and T wave abnormalities. On physical examination, a 2/6~3/6 systolic murmur was heard at the second intercostal space along the left sternal border. Subsequent echocardiography and cardiac magnetic resonance imaging confirmed the LV apical hypoplasia. Of note, we first found that LV apical hypoplasia was accompanied by RV outflow tract obstruction due to exaggerated rightward bulging of the basal-anterior septum during systole. A close follow-up was performed for the development of heart failure, pulmonary hypertension, and potentially tachyarrhythmia.

  14. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.

    Science.gov (United States)

    Yasui, Yoshitomo; Kohno, Miyuki; Nishida, Syouichi; Shironomae, Tsubasa; Satomi, Miwa; Kuwahara, Tsuyoshi; Takahashi, Sadayoshi; Niida, Yo

    2017-01-01

    Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mitochondrial RNA-processing complex gene identified compound heterozygous mutations consisted with previously reported mutations: n.-14_3dupGAAGCTGAGGACGTGGT and n.183G > T. First, we considered that intestinal obstruction was due to an extensive type of Hirschsprung disease, but it was later confirmed as isolated hypoganglionosis. Isolated hypoganglionosis is rare and its therapeutic strategies are not well established. In cases of cartilage-hair hypoplasia associated with severe intestinal obstruction, the differential diagnosis of not only Hirschsprung disease, but also isolated hypoganglionosis, should be considered.

  15. Assessment of dermal exposure to chemicals

    NARCIS (Netherlands)

    Hemmen, J.J. van; Brouwer, D.H.

    1995-01-01

    The methods for the dermal exposure assessment vary in their complexity and are in some sense complementary to each other. The most easy-to-use methods involve a pseudo-skin-approach, such as gloves and removal by washing. In some cases generic modelling appears to be possible. The experimental

  16. Assessment of dermal exposure to chemicals

    NARCIS (Netherlands)

    Hemmen, J.J. van; Brouwer, D.H.

    1995-01-01

    The methods for the dermal exposure assessment vary in their complexity and are in some sense complementary to each other. The most easy-to-use methods involve a pseudo-skin-approach, such as gloves and removal by washing. In some cases generic modelling appears to be possible. The experimental meth

  17. Acellular Dermal Matrix in Postmastectomy Breast Reconstruction

    NARCIS (Netherlands)

    A.M.S. Ibrahim (Ahmed)

    2014-01-01

    markdownabstract__Abstract__ Over the last decade the use of acellular dermal matrix (ADM) in reconstructive breast surgery has been transformative. Some authors have gone as far as to suggest that it is the single most important advancement in prosthetic breast reconstruction. ADMs are able

  18. X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb

    2012-12-01

    Full Text Available Abstract Introduction X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1 gene. Most affected children present with failure to thrive, salt wasting and hypoglycemic convulsions in the first months of life. Hypospadias affects approximately one in 250 live male births. Mutations in the mastermind-like domain-containing 1 (MAMLD1 gene have been implicated as one of the causes of hypospadias in children. To the best of our knowledge, an association between congenital adrenal hypoplasia due to a DAX-1 mutation and hypospadias due to mutation of the MAMLD1 gene has not previously been reported in the literature. Case presentation A 35-day-old male Egyptian baby was referred to our institution for the evaluation of a two-week history of recurrent vomiting associated with electrolyte imbalance. On examination, our patient was found to have hypotension and dehydration. A genital examination showed distal penile hypospadias with chordee and normal testes. He had hyponatremia, hyperkalemia, hypoglycemia and metabolic acidosis. Endocrinological investigations revealed low levels of cortisol, 17-hydroxyprogesterone and aldosterone, with a high level of adrenocorticotrophic hormone. A provisional diagnosis of congenital adrenal hypoplasia associated with hypospadias was made. A molecular genetics study confirmed the diagnosis of X-linked congenital adrenal hypoplasia due to DAX-1 mutations and hypospadias due to MAMLD1 mutation. He was started on hydrocortisone and fludrocortisone treatment. After three weeks of treatment, his symptoms improved and his blood sugar, sodium, potassium and cortisol levels normalized. Conclusions We report the case of an Egyptian baby with an association of congenital adrenal hypoplasia due to DAX-1 mutation and hypospadias due

  19. Bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in five painted storks.

    Science.gov (United States)

    Weber, Martha A; Terrell, Scott P; Neiffer, Donald L; Miller, Michele A; Mangold, Barbara J

    2002-08-01

    Five painted storks were treated with fenbendazole for 5 days for internal parasitism. Four birds died following treatment. Profound heteropenia was a consistent finding in all samples evaluated; additionally, the 1 surviving bird had progressive anemia. Consistent necropsy findings in the 4 birds that died were small intestinal crypt cell necrosis and severe bone marrow depletion and necrosis. Fenbendazole has been associated with bone marrow hypoplasia and enteric damage in mammals and other species of birds. The dosages of fenbendazole used in birds are often substantially higher than those recommended for mammals, which may contribute to bone marrow hypoplasia and intestinal crypt cell necrosis associated with fenbendazole administration in birds.

  20. A rare cause of cervical spinal stenosis: posterior arch hypoplasia in a bipartite atlas

    Energy Technology Data Exchange (ETDEWEB)

    Atasoy, C. [Emek, Kirim Caddesi, Ankara (Turkey); Department of Radiology, Ankara University School of Medicine (Turkey); Fitoz, S.; Karan, B.; Erden, I.; Akyar, S. [Department of Radiology, Ankara University School of Medicine (Turkey)

    2002-03-01

    We describe CT and MRI of a previously unreported combination of atlantoaxial anomalies consisting of posterior arch hypoplasia in a bipartite atlas with an os odontoideum, in a 30-year-old woman presenting with neck and left arm pain. MRI showed the os odontoideum, marked stenosis of the spinal canal at the level of the atlas, with cord compression and evidence of myelopathy. CT revealed a bipartite atlas with midline clefts in anterior and posterior arches, thickening in the anterior arch and hypoplasia of the posterior arch with incurving of both hemiarches. Flexion and extension radiographs demonstrated atlantoaxial instability. (orig.)

  1. The helical three-dimensional CT in the diagnosis of torticollis with occipitocondylar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Ilkko, E.; Tikkakoski, T.; Pyhtinen, J. [Department of Radiology, Oulu University Hospital, Kajaanintie 50, 90220 Oulu (Finland)

    1998-11-01

    Congenital anomalies of the atlanto-occipital and atlantoaxial joints are rare. Those most commonly reported are atlantoaxial instability, basilar impression, anomalies of the odontoid process, laxity of the transverse atlantal ligament and atlanto-occipital fusion. Occipital condylar hypoplasia is infrequent and difficult to recognise. We recently diagnosed it using helical 3D CT in association with torticollis in two patients. The first patient had a several year history of torticollis. The second patient had acute cervical lymphadenitis associated with post-operative torticollis. 3D CT distinctly revealed atlantoaxial subluxation with hypoplasia of the occipital condyles in both cases. (Copyright (c) 1998 Elsevier Science B.V., Amsterdam. All rights reserved.)

  2. Successful staged neonatal repair of tetralogy of Fallot with long-segment hypoplasia of the aorta.

    Science.gov (United States)

    Lu, Jimmy C; Shah, Sanket S; Owens, Sonal T; Dorfman, Adam L; Vedre, Ameeth; Goble, Monica M; Hirsch, Jennifer C; Charpie, John R

    2010-01-01

    We describe an extremely rare combination of tetralogy of Fallot (TOF), right-sided cervical aortic arch with long-segment hypoplasia, and other vascular anomalies. A two-stage surgical approach included aortic arch reconstruction followed by right ventricular muscle bundle division and ventricular septal defect closure a few weeks later. The initial clinical presentation, perioperative course, and imaging studies are presented along with a review of the relevant literature. This is the first report of successful neonatal repair of TOF with long-segment hypoplasia of the aorta.

  3. Basilar invagination secondary to hypoplasia of the clivus - Is there indication for craniocervical fixation?

    Directory of Open Access Journals (Sweden)

    Andrei Fernandes Joaquim

    2014-03-01

    Full Text Available The posterior fossa decompression is a form of treatment suggested for patients with basilar invagination (BI secondary to hypoplasia symptomatic of the clivus and atlantoaxial alignment preserved. Based on the fact that the worsening of cranial-cervical kyphosis (decrease of clivus-canal angle to less than 150o can result in anterior brainstem compression, we propose that some patients may benefit from the cranio-cervical fixation. We present a case report of a patient with BI secondary to clivus hypoplasia who underwent cranio-cervical fixation in extension, with a reduction in clivus-canal angle and improvement of symptoms without posterior fossa decompression.

  4. Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia.

    Science.gov (United States)

    Reddin, Gemma; Poterucha, Joseph T; Dearani, Joseph A; Warnes, Carole A; Cetta, Frank

    2016-02-01

    Cone reconstruction for tricuspid valve repair has revolutionized the surgical treatment of Ebstein anomaly. We present the case of a 58-year-old woman with atypical Ebstein anomaly and right ventricular apical hypoplasia who was spared from palliative shunt physiology by our use of cone reconstruction. Compared with other techniques, cone reconstruction of the tricuspid valve more closely replicates normal valvular anatomy and function. This surgical procedure can be applied to many anatomic variations of Ebstein anomaly, as in our patient's apparently unique instance of atypical Ebstein anomaly with right ventricular apical hypoplasia.

  5. FOCAL MOTOR SEIZURES WITH TYPICAL AUTOMATISMS (FOCAL AUTOMOTOR SEIZURES

    Directory of Open Access Journals (Sweden)

    M. B. Mironov

    2014-01-01

    Full Text Available The paper deals with the study of a group of patients with focal automotor seizures, by taking into consideration their nosological, anamnestic, clinical, electroencephalographic, and neuroimaging features.

  6. Assessment of Acute Oral and Dermal Toxicity of 2 Ethyl-Carbamates with Activity against Rhipicephalus microplus in Rats

    Directory of Open Access Journals (Sweden)

    María Guadalupe Prado-Ochoa

    2014-01-01

    Full Text Available The acute oral and dermal toxicity of two new ethyl-carbamates (ethyl-4-bromophenyl-carbamate and ethyl-4-chlorophenyl-carbamate with ixodicide activity was determined in rats. The oral LD50 of each carbamate was 300 to 2000 mg/kg, and the dermal LD50 of each carbamate was >5000 mg/kg. Clinically, the surviving rats that had received oral doses of each carbamate showed decreased weight gain (P<0.05 and had slight nervous system manifestations. These clinical signs were evident from the 300 mg/kg dose and were reversible, whereas the 2000 mg/kg dose caused severe damage and either caused their death or was motive for euthanasia. At necropsy, these rats had dilated stomachs and cecums with diffuse congestion, as well as moderate congestion of the liver. Histologically, the liver showed slight degenerative lesions, binucleated hepatocytes, focal coagulative necrosis, and congestion areas; the severity of the lesions increased with dosage. Furthermore, an slight increase in gamma-glutamyltransferase, lactate dehydrogenase, and creatinine was observed in the plasma. The dermal application of the maximum dose (5000 mg/kg of each carbamate did not cause clinical manifestations or liver and skin alterations. This finding demonstrates that the carbamates under study have a low oral hazard and low acute dermal toxicity.

  7. Lipopolysaccharide (LPS introduction during growth and development period of rat’s tooth toward the occurrence of enamel hypoplasia

    Directory of Open Access Journals (Sweden)

    Didin Erma Indahyani

    2007-06-01

    Full Text Available The aim of this study is to know the effect of lipopoly saccharide (LPS induction during growth and development period specifically the occurrence of hypoplasia on tooth enamel. 5 day old male wistar rats divided into two groups. Group 1 (control under went no treatment. Group 2 (treatment under went LPS induction every 24 hour for 8 days on buccal fold right maxillary first molar. After 21 days old the rats were sacrificed and the tooth was resected. Hypoplasia Hypo calcification Index (HHI was used to determine the degree of hypoplasia by clinical examination. Radiograph of maxilla was also taken to analyze the apacities of enamel by using COREL DRAW version 11. The result showed that group under went LPS induction hypoplasia occurred on its molar tooth and more radiolucent than control groups. The conclusion is LPS induction during growth and development period of rats tooth causing enamel hypoplasia.

  8. The computed cranial focal point

    NARCIS (Netherlands)

    Jong, G.A. de; Maal, T.J.J.; Delye, H.

    2015-01-01

    INTRODUCTION: Stereophotogrammetry is a radiation-free method for monitoring skull development after craniosynostosis repair. Lack of clear fixed reference points complicate longitudinal comparison of 3D photographs. Therefore we developed the 'computed cranial focal point' (CCFP). METHODS: The CCFP

  9. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

    NARCIS (Netherlands)

    Kasher, P.R.; Namavar, Y.; van Tijn, P.; Fluiter, K.; Sizarov, A.; Kamermans, M.; Grierson, A.J.; Zivkovic, D.; Baas, F.

    2011-01-01

    Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by hypoplasia and/or atrophy of the cerebellum, hypoplasia of the ventral pons, progressive microcephaly and variable neocortical atrophy. The majority of PCH2 and PCH4 cases

  10. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Science.gov (United States)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  11. Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Thomas, S.L.; Childress, M.H.; Quinton, B.

    1985-07-01

    There appears to be an increased incidence of hypoplasia of the odontoid in Hurler's syndrome. As this predisposes to atlanto-axial subluxation, it should be sought in this mucopolysaccharidosis, as well as in Morquio's syndrome.

  12. Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

    Directory of Open Access Journals (Sweden)

    Malvika Gupta

    2014-01-01

    Full Text Available A 5-year-old girl presented with bilateral familial vertical  Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia. Abnormal adducting downshoots on attempting abduction suggestive of a synergistic convergence were noted. Hypothesis suggests aberrant innervations or peripheral anatomic connections between inferior and medial recti.

  13. On the origin of pontocerebellar hypoplasia: Finding genes for a rare disease

    NARCIS (Netherlands)

    Eggens, V.R.C.

    2016-01-01

    Pontocerebellar hypoplasia (PCH) is a recessive neurodegenerative disease with, in most cases, a prenatal onset. The patients suffer from severe intellectual and motor impairments. The majority of patients dies in childhood. This thesis describes novel genes and genotype-phenotype correlations in PC

  14. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

    Science.gov (United States)

    Farag, T I; al-Awadi, S A; Marafie, M J; Bastaki, L; al-Othman, S A; Mohammed, F M; AlSuliman, I S; Murthy, D S

    1993-01-01

    A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

  15. Bilateral mandibular distraction in micrognathism or hypoplasia of mandible, hazrat fatemeh hospital

    Directory of Open Access Journals (Sweden)

    Mohammad-Esmaiil Hassani

    2014-01-01

    Conclusion: The Bilateral Distraction Oseogenesis method can bring forwards the retruded mandible effectively and its results has no difference with older methods. It is an effective and reliable procedure for hypoplasia of Mandible and the results are comparable with older methods.

  16. Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.

    NARCIS (Netherlands)

    Bocca, G.; Weemaes, C.M.R.; Burgt, C.J.A. van der; Otten, B.J.

    2004-01-01

    Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by metaphyseal chondrodysplasia with severe growth retardation and impaired immunity. We studied the effects of growth hormone treatment on growth parameters and the immune system in four children with CHH. The effe

  17. Prenatal evaluation of the middle ear and diagnosis of middle ear hypoplasia using MRI

    Energy Technology Data Exchange (ETDEWEB)

    Katorza, Eldad; Nahama-Allouche, Catherine; Ducou le Pointe, Hubert; Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Service de Radiologie, Paris (France); Castaigne, Vanina [Hopital Saint-Antoine, Service de Gynecologie-Obstetrique, Paris (France); Gonzales, Marie; Marlin, Sandrine [Hopital d' Enfants Armand-Trousseau, Service de Genetique et Embryologie medicales, Paris (France); Galliani, Eva [Hopital d' Enfants Armand-Trousseau, Service de Chirurgie maxillo-faciale, Paris (France); Jouannic, Jean-Marie; Rosenblatt, Jonathan [Hopital d' Enfants Armand-Trousseau, Service de Gynecologie-Obstetrique, Centre pluridisciplinaire de diagnostic prenatal, Paris (France)

    2011-05-15

    Analysis of the middle ear with fetal MRI has not been previously reported. To show the contribution of fetal MRI to middle ear imaging. The tympanic cavity was evaluated in 108 fetal cerebral MRI examinations (facial and/or cerebral malformation excluded) and in two cases, one of Treacher Collins syndrome (case 1) and the other of oculo-auriculo-vertebral (OUV) spectrum (case 2) with middle ear hypoplasia identified by MRI at 27 and 36 weeks' gestation, respectively. In all 108 fetuses (mean gestational age 32.5 weeks), the tympanic cavity and T2 hypointensity related to the ossicles were well visualised on both sides. Case 1 had micro/retrognathia and bilateral external ear deformity and case 2 had retrognathism with a left low-set and deformed ear. MRI made it possible to recognize the marked hypoplasia of the tympanic cavity, which was bilateral in case 1 and unilateral in case 2. Both syndromes are characterized by craniofacial abnormalities including middle ear hypoplasia, which cannot be diagnosed with US. The middle ear cavity can be visualized with fetal MRI. We emphasize the use of this imaging modality in the diagnosis of middle ear hypoplasia. (orig.)

  18. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

    Science.gov (United States)

    Jiang, Chen; Gai, Nan; Zou, Yongyi; Zheng, Yu; Ma, Ruiyu; Wei, Xianda; Liang, Desheng; Wu, Lingqian

    2017-01-01

    Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly. Whole exome sequencing identified a WDR73 p.W371G missense mutation. The mutation is confirmed to be segregated in this family by Sanger sequencing according to a recessive inheritance pattern. It is predicted to be deleterious by multiple algorithms and affect highly conserved site. Structural modeling revealed conformational differences between the wild type protein and the p.W371G protein. Real-time PCR and Western blotting revealed altered mRNA and protein levels in mutated samples. Our study indicates the novel WDR73 p.W371G missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in recessive mode of inheritance. Our findings imply that microcephaly is a variable phenotype in WDR73-related disease, suggest WDR73 to be a candidate gene of severe intellectual disability and cerebellar hypoplasia, and expand the molecular spectrum of WDR73-related disease.

  19. A Unique Way of Learning: Teaching Young Children with Optic Nerve Hypoplasia

    Science.gov (United States)

    Mendiola, Rosalinda; Bahar, Cheryl; Brody, Jill; Slott, Gayle L.

    2005-01-01

    This booklet was inspired by the need of educators and therapists of preschool students who are blind and visually impaired to share their observations of children with Optic Nerve Hypoplasia (ONH) and the therapies found to be helpful when working with these children. The work done at the Blind Childrens Center is very rewarding, and these…

  20. Left Pulmonary Artery Thrombosis in a Neonate with Left Lung Hypoplasia

    Directory of Open Access Journals (Sweden)

    Matthias P. van Schendel

    2012-01-01

    Full Text Available Thrombotic events in neonates may origin from fetal life. A 4-day-old newborn infant with a family history of heterozygous type 1 protein C deficiency was diagnosed with left lung hypoplasia and left pulmonary artery thrombosis. Its source was prenatally closed ductus arteriosus. Surgical removal of the thrombus was performed.

  1. RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

    NARCIS (Netherlands)

    Dijk, T. van; Ruissen, F. van; Jaeger, B.; Rodenburg, R.J.T.; Tamminga, S.; Maarle, M. van; Baas, F.; Wolf, N.I.; Poll-The, B.T.

    2017-01-01

    Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6). Here we report two patients, compound heterozygous for RARS2 mutations, presenting with early onset epileptic encephalopathy and (progressive) atrophy of both supra- and

  2. Dermal fillers for tissue augmentation: an overview

    Directory of Open Access Journals (Sweden)

    Zeplin, Philip H.

    2014-06-01

    Full Text Available [english] Treatments with dermal fillers for tissue augmentation constitute the majority of all non-surgical procedures in plastic surgery. Newly developed products get launched and the market grows continuously, but the “ideal” substance has yet not been found. The substances used these days are high molecular compounds. They have substantial differences in their physicochemical properties and are suspended in complex matrices. This overview describes the latest history of dermal fillers and the commonly used substances of different origin and formalizes the need for the development of systematic procedures of standardized pre-clinical tests with subsequent certification as well as the establishment of interdisciplinary clinical guidelines to ensure custumer’s safety.

  3. Detection of hypoplasia of bony cochlear nerve canal by virtual endoscopy: a pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Quan Yong; Wu Lebin; Gong Wuxian; Gong Ruozhen (Shandong Medical Imaging Research Institute, Shandong Univeristy, Jinan, Shandong (China)), email: grzh99@yahoo.com.cn; Zu Zushan (Dept. of Radiology, Wendeng Central Hospital, Weifang Medical College, Weihai (China))

    2011-09-15

    Background: Dimensions of the bony cochlear nerve canal (BCNC) have been proposed as a potential diagnostic standard for hypoplasia of BCNC, but the standard remains inconsistent. We have previously found that a helix-like shape appears in normal BCNCs at VE images, whereas, the sign does not appear in some hypoplastic BCNCs. Purpose: To retrospectively examine the feasibility of computed tomographic (CT) virtual endoscopy (VE) in the evaluation of hypoplasia of BCNC on the basis of absence of a helix-like shape. Material and Methods: Twenty ears in 14 consecutive patients (mean age 5.5 years, range 1-15 years, 6 boys, 8 girls) diagnosed with hypoplasia of BCNC were included in this work. One hundred ears in 50 gender- and age-matched individuals (mean age 6.6 years, range 1-15 years, 29 boys, 21 girls) without inner ear disease and internal auditory canal (IAC) malformations served as controls. The presence or absence of a helix-like shape was evaluated by two independent reviewers. The value of VE for the diagnosis of hypoplasia of BCNC was assessed with clinical results and routine radiologic evaluation as the reference standard. Inter-observer agreement was calculated. Sensitivity, specificity, and accuracy were selected to test the diagnostic ability of the VE. Results: Absence of a helix-like shape was found in the cochlear area of 17 of 20 ears in patients with hypoplasia of BCNC but in none of the control subjects. Inter-observer agreement was substantial (? = 0.773). The diagnostic rates of absence of a helix-like shape for hypoplasia of BCNC in terms of sensitivity, specificity, and accuracy were 85%, 100%, and 98%, respectively. There were significant differences between the two groups with respect to VE findings for absence of a helix-like shape (P < 0.001). Conclusion: The absence of a helix-like shape at VE images may be used as a potentially useful sign in the diagnosis of hypoplasia of BCNC

  4. Chemical sterilization of allograft dermal tissues.

    Science.gov (United States)

    Phipps, Abigail; Vaynshteyn, Edward; Kowalski, John B; Ngo, Manh-Dan; Merritt, Karen; Osborne, Joel; Chnari, Evangelia

    2017-08-10

    Common terminal sterilization methods are known to alter the natural structure and properties of soft tissues. One approach to providing safe grafts with preserved biological properties is the combination of a validated chemical sterilization process followed by an aseptic packaging process. This combination of processes is an accepted method for production of sterile healthcare products as described in ANSI/AAMI ST67:2011. This article describes the validation of the peracetic acid and ethanol-based (PAAE) chemical sterilization process for allograft dermal tissues at the Musculoskeletal Transplant Foundation (MTF, Edison, NJ). The sterilization capability of the PAAE solution used during routine production of aseptically processed dermal tissue forms was determined based on requirements of relevant ISO standards, ISO 14161:2009 and ISO 14937:2009. The resistance of spores of Bacillus subtilis, Clostridium sporogenes, Mycobacterium terrae, Pseudomonas aeruginosa, Enterococcus faecium, and Staphylococcus aureus to the chemical sterilization process employed by MTF was determined. Using a worst-case scenario testing strategy, the D value was calculated for the most resistant microorganism, Bacillus. The 12D time parameter determined the minimum time required to achieve a SAL of 10(-6). Microbiological performance qualification demonstrated a complete kill of 10(6) spores at just a quarter of the full cycle time. The validation demonstrated that the PAAE sterilization process is robust, achieves sterilization of allograft dermal tissue to a SAL 10(-6), and that in combination with aseptic processing secures the microbiological safety of allograft dermal tissue while avoiding structural and biochemical tissue damage previously observed with other sterilization methods such as ionizing irradiation.

  5. Dermal mass aspirate from a Persian cat.

    Science.gov (United States)

    Zimmerman, Kurt; Feldman, Bernard; Robertson, John; Herring, Erin S; Manning, Thomas

    2003-01-01

    A 1-year-old spayed female Persian cat with alopecia and weight loss had numerous variably ulcerated dermal nodules. Cytologic examination of an aspirate of one of the nodules revealed pyogranulomatous inflammation along with septate hyphae and basophilic round bodies, 0.5-1.0 microm in diameter, surrounded by a thin clear halo (arthrospores). The cytologic diagnosis was dermatophytic pseudomycetoma. Histologically, there were dermal granulomas containing poorly staining, septate hyphae with bulbous spores embedded within abundant amorphous eosinophilic material (Splendore-Hoeppli reaction), and the histologic diagnosis was pseudomycetoma-associated chronic multifocal severe granulomatous dermatitis with lymphocytic perifolliculitis and furunculosis. Microsporum canis was cultured from the lesion. Pseudomycetomas are distinguished from fungal mycetomas, or eumycotic mycetomas, by the findings of multiple lesions, lack of a history of skin trauma, an association with dermatophytes, most commonly Microsporum canis, and, histologically, lack of true cement material and a more abundant Splendore-Hoeppli reaction in pseudomycetomas. Additionally, pseudomycetomas differ from dermatophytosis, in which lesions are restricted to epidermal structures. Persian cats have a high incidence of pseudomycetoma formation, suggesting a heritable predisposition. The prognosis is fair with systemic antifungal therapy. When examining cytologic specimens from Persian cats with single or multiple dermal nodules, especially if pyogranulomatous inflammation is present, a diagnosis of pseudomycetoma should be suspected and is warranted if arthrospores and refractile septate hyphae are present.

  6. Posterior repair with perforated porcine dermal graft

    Directory of Open Access Journals (Sweden)

    G. Bernard Taylor

    2008-02-01

    Full Text Available OBJECTIVE: To compare postoperative vaginal incision separation and healing in patients undergoing posterior repair with perforated porcine dermal grafts with those that received grafts without perforations. Secondarily, the tensile properties of the perforated and non-perforated grafts were measured and compared. MATERIALS AND METHODS: This was a non-randomized retrospective cohort analysis of women with stage II or greater rectoceles who underwent posterior repair with perforated and non-perforated porcine dermal grafts (PelvicolTM CR Bard Covington, GA USA. The incidence of postoperative vaginal incision separation (dehiscence was compared. A secondary analysis to assess graft tensile strength, suture pull out strength, and flexibility after perforation was performed using standard test method TM 0133 and ASTM bending and resistance protocols. RESULTS: Seventeen percent of patients (21/127 who received grafts without perforations developed vaginal incision dehiscence compared to 7% (5/71 of patients who received perforated grafts (p = 0.078. Four patients with vaginal incision dehiscence with non-perforated grafts required surgical revision to facilitate healing. Neither tensile strength or suture pull out strength were significantly different between perforated and non-perforated grafts (p = 0.81, p = 0.29, respectively. There was no difference in the flexibility of the two grafts (p = 0.20. CONCLUSION: Perforated porcine dermal grafts retain their tensile properties and are associated with fewer vaginal incision dehiscences.

  7. Evaluation of electric arc furnace-processed steel slag for dermal corrosion, irritation, and sensitization from dermal contact.

    Science.gov (United States)

    Suh, Mina; Troese, Matthew J; Hall, Debra A; Yasso, Blair; Yzenas, John J; Proctor, Debora M

    2014-12-01

    Electric arc furnace (EAF) steel slag is alkaline (pH of ~11-12) and contains metals, most notably chromium and nickel, and thus has potential to cause dermal irritation and sensitization at sufficient dose. Dermal contact with EAF slag occurs in many occupational and environmental settings because it is used widely in construction and other industrial sectors for various applications including asphaltic paving, road bases, construction fill, and as feed for cement kilns construction. However, no published study has characterized the potential for dermal effects associated with EAF slag. To assess dermal irritation, corrosion and sensitizing potential of EAF slag, in vitro and in vivo dermal toxicity assays were conducted based on the Organisation for Economic Co-operation and Development (OECD) guidelines. In vitro dermal corrosion and irritation testing (OECD 431 and 439) of EAF slag was conducted using the reconstructed human epidermal (RHE) tissue model. In vivo dermal toxicity and delayed contact sensitization testing (OECD 404 and 406) were conducted in rabbits and guinea pigs, respectively. EAF slag was not corrosive and not irritating in any tests. The results of the delayed contact dermal sensitization test indicate that EAF slag is not a dermal sensitizer. These findings are supported by the observation that metals in EAF slag occur as oxides of low solubility with leachates that are well below toxicity characteristic leaching procedure (TCLP) limits. Based on these results and in accordance to the OECD guidelines, EAF slag is not considered a dermal sensitizer, corrosive or irritant.

  8. Grupo Focal em Pesquisas Sociais

    OpenAIRE

    Maria Lúcia Silva Servo; Pricila Oliveira Araújo

    2012-01-01

    Este artigo tem como objetivo discutir a técnica de grupo focal em pesquisas sociais. Apresenta-se as concepções sobre grupo focal. Traz-se os postulados de Pichon-Rivière sobre grupo operativo, os instrumentos de planificação, os vetores do campo grupal para nortear a dinâmica e a observação do campo grupal, bem como a organização, a operacionalização e a análise dos dados das sessões de grupo focal. Através desta técnica de coleta de dados em pesquisas sociais, é possível a construção do EC...

  9. Grupo Focal em Pesquisas Sociais

    OpenAIRE

    Maria Lúcia Silva Servo; Pricila Oliveira Araújo

    2012-01-01

    Este artigo tem como objetivo discutir a técnica de grupo focal em pesquisas sociais. Apresenta-se as concepções sobre grupo focal. Traz-se os postulados de Pichon-Rivière sobre grupo operativo, os instrumentos de planificação, os vetores do campo grupal para nortear a dinâmica e a observação do campo grupal, bem como a organização, a operacionalização e a análise dos dados das sessões de grupo focal. Através desta técnica de coleta de dados em pesquisas sociais, é possível a construção do EC...

  10. Focal epithelial hyperplasia: Case report.

    Science.gov (United States)

    Puriene, Alina; Rimkevicius, Arunas; Gaigalas, Mindaugas

    2011-01-01

    The purpose of the present article is to present a 15 year-old patient with focal epithelial hyperplasia and to review the references on the subject-related etiological, pathological, diagnostic and treatment aspects. Focal epithelial hyperplasia is a rare human papilloma virus (HPV) related to oral lesion with very low frequency within our population. Surgical treatment with a biopsy was performed, acanthosis and parakeratosis are consistent histopathological features, since the patient had no history of sexual contact and HIV infection, the virus was probably acquired from environmental sources.

  11. File list: Unc.Epd.50.AllAg.Dermal_fibroblasts [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available Unc.Epd.50.AllAg.Dermal_fibroblasts mm9 Unclassified Epidermis Dermal fibroblasts h...ttp://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Unc.Epd.50.AllAg.Dermal_fibroblasts.bed ...

  12. File list: Unc.Epd.20.AllAg.Dermal_fibroblasts [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available Unc.Epd.20.AllAg.Dermal_fibroblasts mm9 Unclassified Epidermis Dermal fibroblasts h...ttp://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Unc.Epd.20.AllAg.Dermal_fibroblasts.bed ...

  13. MRI and three dimensional ultrasonography in the assessment of pulmonary hypoplasia in fetuses with urinary tract anomalies

    Directory of Open Access Journals (Sweden)

    Mariam Raafat

    2016-12-01

    Conclusion: There is a good concordance between 3D-US and MRI in the evaluation of PH in fetuses with UTM. MRI could be reserved for borderline cases of pulmonary hypoplasia and the difficult diagnostic situations.

  14. Patient-Reported Esthetic and Functional Outcomes of Primary Total Laparoscopic Intestinal Vaginoplasty in Transgender Women With Penoscrotal Hypoplasia

    NARCIS (Netherlands)

    Bouman, M.B.; Sluis, W.B. van der; Woudenberg Hamstra, L.E. van; Buncamper, M.E.; Kreukels, B.P.; Meijerink, W.J.H.J.; Mullender, M.G.

    2016-01-01

    INTRODUCTION: Puberty-suppressing hormonal treatment may result in penoscrotal hypoplasia in transgender women, making standard penile inversion vaginoplasty not feasible. For these patients, intestinal vaginoplasty is a surgical alternative, but knowledge on patient-reported postoperative outcomes

  15. Focal fits during chlorambucil therapy

    Science.gov (United States)

    Naysmith, A.; Robson, R. H.

    1979-01-01

    An elderly man receiving chlorambucil for chronic lymphatic leukaemia developed focal fits. The onset and frequency were dose related. There was no evidence of metabolic disturbance or of meningeal leukaemia. Although reported in children and well recognized in animals, chlorambucil-induced fits in an adult have not been previously recorded. PMID:118440

  16. Focal lesions of the patella

    Energy Technology Data Exchange (ETDEWEB)

    Hedayati, B. [Royal national Orthopaedic Hospital Stanmore, Brockley Hill Stanmore, Department of Radiology, Middlesex (United Kingdom); Lewisham Hospital NHS Trust, Department of Radiology, London (United Kingdom); Saifuddin, A. [Royal national Orthopaedic Hospital Stanmore, Brockley Hill Stanmore, Department of Radiology, Middlesex (United Kingdom)

    2009-08-15

    Focal lesions of the patella may be identified during the investigation of anterior knee pain or as an incidental finding on radiological images. This pictorial review describes the radiographic appearances of a wide range of conditions that have been seen in this sesamoid bone. Where appropriate, computed tomography and magnetic resonance features have been included. (orig.)

  17. Evaluation of lymphangiogenesis in acellular dermal matrix

    Directory of Open Access Journals (Sweden)

    Mario Cherubino

    2014-01-01

    Full Text Available Introduction: Much attention has been directed towards understanding the phenomena of angiogenesis and lymphangiogenesis in wound healing. Thanks to the manifold dermal substitute available nowadays, wound treatment has improved greatly. Many studies have been published about angiogenesis and cell invasion in INTEGRA® . On the other hand, the development of the lymphatic network in acellular dermal matrix (ADM is a more obscure matter. In this article, we aim to characterize the different phases of host cell invasion in ADM. Special attention was given to lymphangiogenic aspects. Materials and Methods: Among 57 rats selected to analyse the role of ADM in lymphangiogenesis, we created four groups. We performed an excision procedure on both thighs of these rats: On the left one we did not perform any action except repairing the borders of the wound; while on the right one we used INTEGRA® implant. The excision biopsy was performed at four different times: First group after 7 days, second after 14 days, third after 21 days and fourth after 28 days. For our microscopic evaluation, we used the classical staining technique of haematoxylin and eosin and a semi-quantitative method in order to evaluate cellularity counts. To assess angiogenesis and lymphangiogenesis development we employed PROX-1 Ab and CD31/PECAM for immunohistochemical analysis. Results: We found remarkable wound contraction in defects that healed by secondary intention while minor wound contraction was observed in defects treated with ADM. At day 7, optical microscopy revealed a more plentiful cellularity in the granulation tissue compared with the dermal regeneration matrix. The immunohistochemical process highlighted vascular and lymphatic cells in both groups. After 14 days a high grade of fibrosis was noticeable in the non-treated group. At day 21, both lymphatic and vascular endothelial cells were better developed in the group with a dermal matrix application. At day 28

  18. Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex.

    Science.gov (United States)

    Genuardi, M; Gasparini, P; Neri, G; Zelante, L

    1997-01-20

    The limb-pelvis hypoplasia/aplasia (LPHA) syndrome is a rare condition of skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora, sometimes associated with extraskeletal defects. Most reported patients are from the Middle East, and autosomal recessive inheritance was clearly demonstrated on the basis of multiple occurrences of affected sibs born to consanguineous matings. Here we report on a baby girl presenting with the phenotypic characteristics of LPHA. This is second observation of LPHA from Italy, and the fourth outside the Middle East. A paternal first cousin once removed had unilateral fibular hypoplasia and absence of the the 4th and 5th digital rays. The possible link between these cases is discussed in the light of the developmental field theory.

  19. Nonsyndromic hemimandibular hypoplasia: A case report with a short review of the literature

    Directory of Open Access Journals (Sweden)

    Sourav Bhattacharya

    2015-01-01

    Full Text Available Mandibular hypoplasia (MH is a condition, which characterizes deviation in the mandibular growth patterns causing functional and esthetic alterations. MHs encountered in the craniofacial region may be of three types: Congenital, developmental and acquired. Majority of the MHs are associated with syndromes with very little emphasis on the "nonsyndromic" category. Furthermore, the hypoplasias generally have a bilateral manifestation on the mandible. We focus on the nonsyndromic category and report a case of isolated unilateral MH in a 17-year-old boy with obvious facial disfigurement but with no association to any syndrome. The objective of this presentation is to highlight the rarity, possible manifestations and diagnostic approach of the nonsyndromic group.

  20. A rare case of type 1 diabetes mellitus with pituitary hypoplasia.

    Science.gov (United States)

    Pinto, Jostol; Sudeep, K; Venkatesha, B M

    2014-01-01

    Growth failure and pubertal abnormalities are not uncommon in chronic uncontrolled metabolic diseases like diabetes mellitus. We present a young girl with uncontrolled type 1 diabetes mellitus, who presented with short stature and primary amenorrhea, and on evaluation was found to have anterior pituitary hypoplasia. In addition to uncontrolled diabetes mellitus, she presented with early onset growth failure and lack of spontaneous secondary sexual characteristics. She had central hypothyroidism and inappropriately normal gonadotropin levels. However her serum cortisol levels were normal. MRI of the sellar-suprasellar region revealed a small anterior pituitary gland with thinning of the pituitary stalk consistent with pituitary hypoplasia. While uncontrolled type 1 diabetes itself may cause growth retardation and pubertal abnormalities, this girl had coexisting pituitary maldevelopment - a rare co-existence of two major illnesses of unrelated etiologies. The partial pituitary hormonal deficiency, which spared the hypothalamo-pituitary-adrenal axis, may be due to a transcription factor defect.

  1. Severe diffuse hypoplasia of the aorta associated with multiple vascular abnormalities.

    Science.gov (United States)

    Grebeldinger, Slobodan P; Balj, Svetlana S; Adic, Oto

    2011-06-01

    Hypoplasia of the thoracic and abdominal aorta is an extremely rare vascular pathology. The most common clinical manifestation is severe uncontrolled hypertension in adolescents and young adults. Medical treatment alone can decrease blood pressure, but often very high doses of antihypertensive drugs are needed. When hypertension is refractory to the antihypertensive medications, surgical revascularization is considered as the treatment of choice. We report the case of a severe and diffuse hypoplasia of the aorta, beginning with the aortic isthmus, to the aortic bifurcation, associated with an aberrant celiac trunk and superior mesenteric artery, and with other multiple vascular abnormalities. Unlikely, the only manifestation of this extensive vascular malformation was medicamentously controllable hypertension. To our knowledge, this severe vascular anomaly, with such a minimal clinical manifestation, has not been previously described in the English literature.

  2. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.

    Science.gov (United States)

    Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; Price, Sue; Prabhakar, Prab; Marinova, Jasmina; Brown, Garry; McShane, Tony

    2013-12-01

    Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. The disorder was named pontocerebellar hypoplasia type 6 (PCH6) based on the corresponding radiological findings observed in the original cases. We report two siblings with the RARS2 mutation who displayed typical clinical features of PCH6, but who had distinct neuroimaging features. Early scans showed marked supratentorial, rather than infratentorial, atrophy, and the pons remained preserved throughout. One sibling also had bilateral subdural effusions at presentation. The deceleration in head growth pointed to an evolving genetic/metabolic process giving rise to cerebral atrophy and secondary subdural effusions. RARS2 mutations should be considered in infants presenting with seizures, subdural effusions, decelerating head growth and evidence of cerebral atrophy even in the absence of pontocerebellar hypoplasia on imaging.

  3. A neonate with left pulmonary artery thrombosis and left lung hypoplasia: a case report

    Directory of Open Access Journals (Sweden)

    ElHassan Nahed O

    2010-08-01

    Full Text Available Abstract Introduction Spontaneous intrauterine arterial thrombosis and congenital pulmonary hypoplasia are rare conditions and have not been reported to occur together. The literature rather includes two reports of babies with neonatal pulmonary artery occlusion and post-infarction cysts of the lungs. Case presentation We report a case of a live Caucasian male newborn with left lung hypoplasia that occurred in association with left pulmonary artery thrombosis. Despite a critical neonatal course, including extracorporeal membrane oxygenation, this infant is alive and well at 18 months of age without any neurodevelopmental sequelae or reactive airway disease. Conclusion This association suggests the possibility of an intrauterine vascular event between the fifth and eighth weeks of gestation during early pulmonary artery and lung development.

  4. Unilateral hypoplasia with contralateral hypertrophy of anterior belly of digastric muscle: a case report.

    Science.gov (United States)

    Ochoa-Escudero, Martin; Juliano, Amy F

    2016-10-01

    Anomalies of the anterior belly of the digastric muscle (DM) are uncommon. We present a case of hypoplasia of the anterior belly of the left DM with hypertrophy of the anterior belly of the contralateral DM. The importance of recognizing this finding is to differentiate hypoplasia of the anterior belly of the DM from denervation atrophy, and not to confuse contralateral hypertrophy with a submental mass or lymphadenopathy. In denervation atrophy of the anterior belly of the DM, associated atrophy of the ipsilateral mylohyoid muscle is present. Hypertrophy of the anterior belly of the contralateral DM can be differentiated from a submental mass or lymphadenopathy by recognizing its isodensity on computed tomography and isointensity on magnetic resonance imaging to other muscles, without abnormal contrast enhancement.

  5. Turner′s hypoplasia and non-vitality: A case report of sequelae in permanent tooth

    Directory of Open Access Journals (Sweden)

    P R Geetha Priya

    2010-01-01

    Full Text Available Hypoplasia is the result of disruption in the process of enamel matrix formation, which in turn causes defect in quality and thickness of enamel. Four cases of Turner′s hypoplastic teeth with a previous history of trauma/infection in their primary predecessors at the age of 2-3 years have been reported. These hypoplastic teeth had turned non-vital without any carious insult, cavitation or further trauma. This article thereby stresses the importance of early detection of enamel hypoplasia and proper management at the earliest possible stage to enable an efficient prevention from clinically non-evident microbial invasion in the dentinal tubules and concomitant pulp pathosis.

  6. Bilateral coronoid hypoplasia and complex odontoma: a rare concurrence of developmental pathology and odontogenic tumour of the mandible.

    Science.gov (United States)

    Dar, Mohd Arif; Alaparthi, Ravikiran; Yalamanchili, Samatha; Santosh, Arvind Babu Rajendra

    2015-10-13

    We present a rare case of concurrent bilateral coronoid hypoplasia and complex odontoma in the mandible, with replacement of missing posterior teeth in both sides of the lower jaw. A 20-year-old woman was diagnosed with bilateral occurrence of coronoid hypoplasia and unerupted complex odontoma after radiographic and histopathological examination. The patient was surgically treated with complete removal of the unerupted complex odontoma and prosthetic replacement of the missing teeth.

  7. Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism

    Directory of Open Access Journals (Sweden)

    Masuda N

    2014-09-01

    Full Text Available Naonori Masuda, Taiji Hasegawa, Mariko Yamashita, Nahoko Ogata Department of Ophthalmology, Nara Medical University, Nara, Japan Abstract: Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He also had horizontal nystagmus and depigmented irides. His best-corrected visual acuity was 2/100 with -14.0 diopters in the right eye and 3/100 with -5.0 diopters in the left eye. Ophthalmoscopy showed diffuse depigmentation in both eyes and a foveal hemorrhage in the right eye. Optical coherence tomography showed the absence of a foveal pit in both eyes and a subretinal hyperreflective lesion corresponding to the foveal hemorrhage in the right eye. Fluorescein angiography showed that the retinal and choroidal vessels were relatively hypofluorescent because of the lack of a blocking effect of the pigments in the retinal pigment epithelium. Fluorescein angiography and indocyanine green angiography did not show any evidence of choroidal neovascularization in either eye. The foveal hemorrhage in the right eye spontaneously regressed and finally resolved at 3 months after onset. At the final examination, the patient reported that his vision had recovered. A foveal hemorrhage is a rare condition in an eye with foveal hypoplasia associated with albinism. The hemorrhage may be related to high myopia and also to the hypoplasia of the fovea associated with albinism. Keywords: albinism, foveal hemorrhage, foveal hypoplasia, simple hemorrhage

  8. Basilar invagination secondary to hypoplasia of the clivus - Is there indication for craniocervical fixation?

    OpenAIRE

    2014-01-01

    The posterior fossa decompression is a form of treatment suggested for patients with basilar invagination (BI) secondary to hypoplasia symptomatic of the clivus and atlantoaxial alignment preserved. Based on the fact that the worsening of cranial-cervical kyphosis (decrease of clivus-canal angle to less than 150o) can result in anterior brainstem compression, we propose that some patients may benefit from the cranio-cervical fixation. We present a case report of a patient with BI secondary to...

  9. Prenatal determinants of optic nerve hypoplasia: Review of suggested correlates and future focus

    OpenAIRE

    Garcia-Filion, Pamela; Borchert, Mark

    2013-01-01

    Optic nerve hypoplasia (ONH), a congenital malformation characterized by an underdeveloped optic nerve, is a seemingly epidemic cause of childhood blindness and visual impairment with associated lifelong morbidity. While the prenatal determinants of ONH are unknown, early case reports have led to a longstanding speculation that risky health behaviors (e.g. recreational drugs, alcohol) are a likely culprit. There has yet to be a systematic review of the epidemiology of ONH to assess the common...

  10. Congenital Horner Syndrome with Heterochromia Iridis Associated with Ipsilateral Internal Carotid Artery Hypoplasia

    OpenAIRE

    Deprez, Fabrice; Coulier, Julie; Rommel, Denis; Boschi, Antonella

    2014-01-01

    Background: Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. Case Report: We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by computed tomography (CT). Conclusions: CT evaluation of the skull base is essential to establish this diagn...

  11. [Unilateral pulmonary artery agenesis with ipsilateral pulmonary hypoplasia as incidental finding in an asthmatic patient].

    Science.gov (United States)

    Contreras-Arias, Catalina; Duarte, Diana; Ramírez, Luis F; Serrano, Carlos D

    2014-01-01

    Unilateral absence of a pulmonary artery is an uncommon congenital heart disease. It can be related to respiratory symptoms such as asthma, an unusual finding in some of these patients. This paper reports the case of a 4-year-old male with recurrent respiratory infections and asthma symptoms, in who further studies found agenesia of right pulmonary artery with pulmonary hypoplasia of the same side.

  12. Interproximal contact hypoplasia in primary teeth: A new enamel defect with anthropological and clinical relevance.

    Science.gov (United States)

    Lukacs, John R.

    1999-11-01

    This study reports the prevalence, distribution, and expression of enamel defects in a sample of primary teeth (n = 225) from a prehistoric site in western India (1400-700 BC). Five enamel surfaces of individual, isolated primary teeth were observed for surface defects using a binocular stereomicroscope with variable power of magnification (8-20x). Standards for evaluating dental enamel defects (DDE) recommended by the Fédération Dentaire International (FDI) were employed. Details of defect expression were also recorded, including size, shape, and surface of tooth crown affected. Hypoplastic enamel defects were observed in 28% of teeth, but the distribution and expression of defects was not random. More than 50% of canine teeth had hypoplastic defects (HD); incisors and molar teeth exhibited far fewer HD. The buccal surface of canines was the most commonly affected crown surface. Areas of missing enamel were also common on the mesial and distal surfaces of canines and incisors and on the mesial surface of molar teeth. The high frequency of enamel defects found on interproximal crown surfaces warrants a label, and the name interproximal contact hypoplasia (IPCH) is proposed. Linear enamel hypoplasia (LEH) was absent from this primary dental sample. IPCH is more frequent in mandibular than in maxillary teeth, but no side preference was detected. In canine teeth, buccal hypoplasias (localized hypoplasia of primary canines; LHPC) were not positively correlated with interproximal hypoplastic defects. The etiology of IPCH may involve mesial compaction of developing teeth due to slow longitudinal growth of the jaws. Episodic bone remodeling results in ephemeral fenestrae in the mesial and distal walls of the dental crypt permitting tooth-tooth contact and disruption of amelogenesis. IPCH prevalence decreases across the subsistence transition from sedentary Early Jorwe agriculturalists to seminomadic Late Jorwe hunters and foragers, but the difference is not

  13. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

    Science.gov (United States)

    Thomas, Shery; Thomas, Mervyn G; Andrews, Caroline; Chan, Wai-Man; Proudlock, Frank A; McLean, Rebecca J; Pradeep, Archana; Engle, Elizabeth C; Gottlob, Irene

    2014-03-01

    Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C>G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The amino-acid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

  14. Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kono, Tatsuo [Dokkyo University, Department of Radiology, Mibu, Shimotsuga, Tochigi (Japan); Moriyama, Nobuko [Ibaraki Children' s Hospital, Department of Paediatrics, Mito, Ibaraki (Japan); Tanaka, Ryuta [University of Tsukuba, Department of Paediatrics, Tsukubu, Ibaraki (Japan); Iwasaki, Nobuaki [Ibaraki Prefectural University of Health Sciences, Department of Paediatrics, Ami, Ibaraki (Japan); Arai, Jun-ichi [Ibaraki Children' s Hospital, Department of Neonatology, Mito, Ibaraki (Japan)

    2008-10-15

    Brain MR images of a 14-month-old boy with lissencephaly and cerebellar hypoplasia showed numerous radiating linear structures in the white matter. This finding was identical to the tigroid or leopard-skin pattern that is seen in Pelizaeus-Merzbacher disease or metachromatic leukodystrophy and represents the perivascular white matter spared from demyelination. We speculate that mutations of the reelin gene, expressed both in the cortex and in the white matter, may play an important role in its development. (orig.)

  15. Mechanisms of cadmium-caused eye hypoplasia and hypopigmentation in zebrafish embryos

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Ting, E-mail: zting@webmail.hzau.edu.cn; Zhou, Xin-Ying, E-mail: 290356082@qq.com; Ma, Xu-Fa, E-mail: xufama@mail.hzau.edu.cn; Liu, Jing-Xia, E-mail: ichliu@mail.hzau.edu.cn

    2015-10-15

    Highlights: Using high-throughput in situ hybridization screening, we found that genes labeling the neural crest and its derivative pigment cells were sensitive to cadmium toxicity during zebrafish organogenesis, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in cadmium-exposed embryos. Based on neural crest markers, we identified the doses and times of cadmium exposure that cause damage to the zebrafish organogenesis, and we also found that compounds BIO or RA could neutralize the toxic effects of cadmium. - Abstract: Cadmium-caused head and eye hypoplasia and hypopigmentation has been recognized for a long time, but knowledge of the underlying mechanisms is limited. In this study, we found that high mortality occurred in exposed embryos after 24 hpf, when cadmium (Cd) dosage was above 17.8 μM. Using high-throughput in situ hybridization screening, we found that genes labelling the neural crest and its derivative pigment cells exhibited obviously reduced expression in Cd-exposed embryos from 24 hpf, 2 days earlier than head and eye hypoplasia and hypopigmentation occurred. Moreover, based on expression of crestin, a neural crest marker, we found that embryos before the gastrula stage were more sensitive to cadmium toxicity and that damage caused by Cd on embryogenesis was dosage dependent. In addition, by phenotype observation and detection of neural crest and pigment cell markers, we found that BIO and retinoic acid (RA) could neutralize the toxic effects of Cd on zebrafish embryogenesis. In this study, we first determined that Cd blocked the formation of the neural crest and inhibited specification of pigment cells, which might contribute to the molecular mechanisms underlying the phenotype defects of head and eye hypoplasia and hypopigmentation in Cd-exposed embryos. Moreover, we found that compounds BIO or RA could neutralize the toxic effects of Cd.

  16. Multivectorial, external halo-assisted midface distraction in patients with severe hypoplasia.

    Science.gov (United States)

    Malagon, Hector Hidalgo; Romo, Gabriela Wong; Quintero Mosqueda, Francisco Rafael; Magaña, Fernando Gonzalez

    2008-11-01

    Osteogenesis distraction is an increasingly used technique for the correction of facial deformities because it offers a faster and more controlled growth of the hypoplasic bone along with the elongation of the soft tissues. In this article, we describe the technique and our experience in midface distraction using an external multivectoral distraction device (BLUE Device; W. Lorenz, Jacksonville, FL) and custom-made midface osteotomies for the correction of severe hypoplasia.

  17. Dermal pharmacokinetics of microemulsion formulations determined by in vivo microdialysis

    DEFF Research Database (Denmark)

    Kreilgaard, Mads

    2001-01-01

    To investigate the potential of improving dermal drug delivery of hydrophilic and lipophilic substances by formulation in microemulsion vehicles and to establish a reliable pharmacokinetic model to analyze cutaneous microdialysis data.......To investigate the potential of improving dermal drug delivery of hydrophilic and lipophilic substances by formulation in microemulsion vehicles and to establish a reliable pharmacokinetic model to analyze cutaneous microdialysis data....

  18. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.

    Science.gov (United States)

    Rocas, Delphine; Alix, Eudeline; Michel, Jessica; Cordier, Marie-Pierre; Labalme, Audrey; Guilbert, Hélène; Till, Marianne; Schluth-Bolard, Caroline; de Haas, Pascale; Massardier, Jérôme; Portes, Vincent des; Edery, Patrick; Touraine, Renaud; Guibaud, Laurent; Vasiljevic, Alexandre; Sanlaville, Damien

    2013-05-01

    We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  19. Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia.

    Science.gov (United States)

    Caesar, R E; Packer, M G; Kaplan, G W; Dudell, G G; Guerrant, A L; Griswold, W R; Lemire, J M; Mendoza, S A; Reznik, V M

    1995-11-01

    Extracorporeal membrane oxygenation (ECMO) is an effective treatment modality for the newborn with refractory hypoxemia. Oligohydramnios can be associated with congenital renal disease (CRD) and can result in respiratory insufficiency from pulmonary hypoplasia, delayed lung maturation, and persistent pulmonary hypertension of the newborn. In this retrospective study, the authors reviewed the outcome of four children with CRD who required ECMO in the neonatal period. Between October 1987 and December 1995, ECMO was used in four newborns with CRD and pulmonary hypoplasia unresponsive to maximal medical management. The causes of CRD were urinary obstruction (2), renal dysplasia (1), and vesicoureteral reflux (1). Neonatal survivors of ECMO with CRD had regular follow-up with a nephrologist, urologist, and pediatrician. Developmental history, assessment of renal function, and a nutritional evaluation were recorded on each visit. The follow-up period ranged from 6 months to 5 years. All patients with CRD were successfully weaned from ECMO. One child died, at 1 month of age, because of renal failure. The estimated glomerular filtration rates in the three survivors were 20, 24, and 60 mL/min/1.73 m2. Growth and development have been delayed in two patients. Based on the author's experience, ECMO may improve the survival of neonates with pulmonary hypoplasia and CRD. Factors associated with successful long-term outcome include (1) renal disease amenable to surgical correction, (2) aggressive nutritional support, and (3) a reliable social support system.

  20. [Risk factors for teeth aplasia and hypoplasia in cleft lip and palate children].

    Science.gov (United States)

    Korolenkova, M V; Starikova, N V; Ageeva, L V

    2016-01-01

    The aim of the study was to assess the significance of environmental risk factors for teeth aplasia and hypoplasia in cleft lip and palate children. Two hundred and forty-seven cleft lip and palate (CLP) children were enrolled in the study including 105 (42.5%) with bilateral CLP and 57.5% with unilateral CLP. The mean age was 11.2±4.9 years. Teeth condition was assessed clinically and radiologically. The impact of risk factors for teeth anomalies was analyzed by retrospective data obtained from computer database (absence of preoperative orthopedic treatment, palatal defects after primary palatoplasty and type of primary procedures). Surgical trauma by early periosteoplasty (at the age of 3-4 months), excessive scarring and tissue traction due to absence of early orthopedic treatment and palatal defect were associated with significantly higher incidence of incisors hypoplasia (both developmental enamel defects and microdentia) and aplasia of central incisors not seen in the other study subgroups. Incisors aplasia and hypoplasia in CLP patients do not always have disembryogenic origin but may depend on external environmental factors, including surgical trauma.

  1. Lipid nanoparticles for dermal drug delivery.

    Science.gov (United States)

    Kakadia, Pratibha G; Conway, Barbara R

    2015-01-01

    Lipid based drug delivery systems have been widely studied and reported over the past decade and offer a useful alternative to other colloidal drug delivery systems. Skin is a popular route of drug delivery for locally and systemically acting drugs and nanoparticles are reported as a potential formulation strategy for dermal delivery. Although the skin acts as a natural physical barrier against penetration of foreign materials, including particulates, opportunities exist for the delivery of therapeutic nanoparticles, especially in diseased and damaged skin and via appendageal routes such as the openings of hair follicles. The extent and ability of nanoparticles to penetrate into the underlying viable tissue is still the subject of debate although recent studies have identified the follicular route as the most likely route of entry; this influences the potential applications of these dosage forms as a drug delivery strategy. This paper reviews present state of art of lipid-based nanocarriers focussing on solid lipid nanoparticles, nanostructured lipid carriers and nanoemulsions, their production methods, potential advantages and applications in dermal drug delivery.

  2. [Cerebellar abscesses secondary to infection of an occipital dermal sinus].

    Science.gov (United States)

    García Galera, A; Martínez León, M I; Pérez da Rosa, S; Ros López, B

    2013-09-01

    A dermal sinus is a congenital defect arising from a closure failure of the neural tube that results in different degrees of communication between the skin and the central nervous system. A dermal sinus can occur anywhere from the root of the nose to the conus medullaris, and the occipital location is the second most common. Dermal sinuses are often found in association with dermoid or epidermoid cysts and less frequently with teratomas. Patients with an occipital dermoid cyst associated with a dermal sinus can develop meningitis and/or abscesses as the first clinical manifestation of the disease due to the dermoid cyst itself becoming abscessed or to the formation of secondary abscesses; few cases of the formation of secondary abscesses have been reported. We present a case of a dermoid cyst associated with an infected dermal sinus and posterior development of cerebellar abscesses and hydrocephalus.

  3. Late-onset Ito's nevus: an uncommon acquired dermal melanocytosis.

    Science.gov (United States)

    Mataix, Javier; López, Norberto; Haro, Rosario; González, Elena; Angulo, Jorge; Requena, Luis

    2007-08-01

    Dermal melanocytoses comprise a variety of congenital and acquired conditions characterized by a sparse population of intradermal dendritic, variably pigmented, spindle-shaped melanocytes. While Mongolian spot, Ota's and Ito's nevi are usually present at birth or appear around puberty; acquired dermal melanocytoses that appear in adult life are extremely rare. They include the facial lesions of acquired bilateral nevus of Ota-like macules, also named Hori's nevus, and the acquired unilateral nevus of Ota, also known as Sun's nevus. Uncommon extrafacial examples of acquired dermal melanocytoses include lesions involving upper extremities, wrist, back, lower extremities and dorsal aspects of the hands and feet. They are more prevalent among Asian women. In general, dermal melanocytoses are rare lesions in Caucasian patients and acquired variants are exceedingly uncommon. We report a rare example of acquired Ito's nevus that appeared in a Caucasian elderly woman and review the literature about acquired dermal melanocytoses.

  4. Focal rigidity of flat tori

    Directory of Open Access Journals (Sweden)

    Ferry Kwakkel

    2011-12-01

    Full Text Available Given a closed Riemannian manifold (M, g, i.e. compact and boundaryless, there is a partition of its tangent bundle TM = ∪iΣi called the focal decomposition of TM. The sets Σi are closely associated to focusing of geodesics of (M, g, i.e. to the situation where there are exactly i geodesic arcs of the same length joining points p and q in M. In this note, we study the topological structure of the focal decomposition of a closed Riemannian manifold and its relation with the metric structure of the manifold. Our main result is that flat n-tori, n > 2, are focally rigid in the sense that if two flat tori are focally equivalent then the tori are isometric up to rescaling. The case n = 2 was considered before by F. Kwakkel.Dada uma variedade Riemanniana (M, g fechada, isto é, compacta e sem bordo, existe uma partição de seu fibrado tangente TM = ∪iΣi chamada decomposição focal de TM. Os conjuntos Σi estão intimamente associados ao modo como focalizam as geodésicas de (M,g, isto é, à situação em que existem exatamente i arcos de geodésica de mesmo comprimento unindo pontos p e q em M. Nesta nota, estudamos a estrutura topológica da decomposição focal de uma variedade Riemanniana fechada e sua relação com a estrutura métrica de M. Nosso principal resultado é que n-toros planos, n > 2, são focalmente rigidos, isto é, se dois toros planos são focalmente equivalentes, então os dois toros são isométricos módulo mudança de escala. O caso n = 2 foi considerado anteriormente por F. Kwakkel.

  5. Hypocellular Plaque-Like CD34-Positive Dermal Fibroma (Medallion-Like Dermal Dendrocyte Hamartoma) Presenting as a Skin-Colored Dermal Nodule.

    Science.gov (United States)

    Mutgi, Krishna A J; Chitgopeker, Pooja; Ciliberto, Heather; Stone, Mary S

    2016-01-01

    Plaque-like CD34-positive dermal fibromas, also known as medallion-like dermal dendrocyte hamartomas (MDDHs), are a recently recognized group of congenital and acquired spindle cell neoplasms that may appear histologically similar to dermatofibrosarcoma protuberans. Recognizing the clinical heterogeneity of this neoplasm and the subtle pathologic differences are crucial to making the correct diagnosis and avoiding the aggressive surgical intervention required to treat a dermatofibrosarcoma protuberans. We present the case of a 9-year-old girl with an acquired variant of a plaque-like CD34-positive dermal fibroma without clinical epidermal change. Our case expands the clinical spectrum to include an acquired variant of a plaque-like CD34-positive dermal fibroma without clinical epidermal change. Examination of more cases is needed to determine whether all clinical variants are truly subtypes of the same neoplasm or represent distinct CD34-positive spindle cell proliferations.

  6. [Asterixis in focal brain lesions].

    Science.gov (United States)

    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.

  7. Focal cortical dysplasia – review

    Science.gov (United States)

    Kabat, Joanna; Król, Przemysław

    2012-01-01

    Summary Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also

  8. Dermal graft correction of extraordinary chordee.

    Science.gov (United States)

    Kogan, S J; Reda, E F; Smey, P L; Levitt, S B

    1983-11-01

    Severe degrees of primary chordee and persistent or recurrent chordee following previous surgical attempts at correction present a challenging problem. Inadequate resection of involved tissues, which may involve all layers of the penile investiture, or recurrent scarring of the ventral skin, Buck's fascia and tunica albuginea is usually the cause. Reoperation to achieve penile straightening often is unsuccessful unless all chordee-bearing tissue is resected extensively. Excision of large segments of tunica albuginea or wide separation of the margins creates a defect that tends to heal by dense scarring unless the defect is bridged by a graft. Various autogenous materials have been used, including blood vessel, fascia, free fat graft, dermis and tunica albuginea, as well as prosthestic materials, such as polytetrafluoroethylene, with varying results. A series of patients with extensive chordee is presented in whom tunical resection was necessary to achieve penile straightening. The results of free dermal graft replacement of the tunica are reported.

  9. Prenatal Diagnosis of Congenital Dermal Sinus

    Directory of Open Access Journals (Sweden)

    Sharif Sakr

    2015-04-01

    Full Text Available Background - Congenital dermal sinus (CDS is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report - We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion - Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications.

  10. Dermal and Ophthalmic Findings in Pseudohypoaldosteronism

    Science.gov (United States)

    Korkut, Sabriye; Gökalp, Emir; Özdemir, Ahmet; Kurtoğlu, Selim; Demirtaş, Şafak; Gül, Ülkü; Baştuğ, Osman

    2015-01-01

    Pseudohypoaldosteronism (PHA) is defined as a state of resistance to aldosterone, a hormone crucial for electrolyte equilibrium. The genetically transmitted type of PHA is primary hypoaldosteronism. Secondary hypoaldosteronism develops as a result of hydronephrosis or hydroureter. PHA patients suffer from severe hyponatremia and a severe clinical condition due to severe loss of salt can be encountered in the neonatal period. Dermal findings in the form of miliaria rubra can also develop in these patients. With the loss of salt, abnormal accumulation of sebum in the eye due to a defect in the sodium channels can also occur. In this paper, a case of PHA in a newborn showing typical dermatological and ophthalmological findings is presented. PMID:26316441

  11. [Generalized granuloma annulare or diffuse dermal histiocytosis?].

    Science.gov (United States)

    Kretzschmar, L; Biel, K; Luger, T A; Goerdt, S

    1995-08-01

    Generalized granuloma annulare is a rare variant of granuloma annulare affecting the trunk and extremities with a multitude of lesions. In contrast to localized granuloma annulare, generalized granuloma annulare occurs in older patients, shows a stronger association with diabetes, and is characteristically chronic. Like our 55-year-old patient, most patients present with papules and annular plaques; less often, macular or non-annular lesions may be encountered. Histology often fails to show necrobiotic or necrotic connective tissue changes demarcated by a palisading granuloma. Instead, there are diffuse dermal, band-like or nodular aggregations of histiocytes intermingled with some multinucleated giant cells and a predominantly lymphocytic infiltrate in the periphery. Because of its special characteristics, it has been suggested that generalized granuloma annulare might constitute a separate disease entity and that it should be classed among the primary cutaneous histiocytoses as a diffuse dermal histiocytosis. Using immunohistochemistry to determine the macrophage phenotype of the lesional histiocytes, we have shown that generalized granuloma annulare is not a cutaneous histiocytosis. Neither MS-1 high-molecular-weight protein, a new specific marker for cutaneous non-Langerhans cell histiocytoses, nor CD1a, the well-known marker for Langerhans cells and Langerhans cell histiocytoses, is expressed by the lesional histiocytes of our patient. In contrast, the antigen expression pattern was diagnostic for non-infectious granulomas and was highly similar to that in localized granuloma annulare. In contrast to the successful treatment of localized granuloma annulare reported with intralesional interferon beta-1, systemic treatment with interferon alpha-2b (9 x 10(6) units three times a week) was ineffective.

  12. Inhibition of focal adhesion kinase (FAK) signaling in focal adhesions decreases cell motility and proliferation.

    OpenAIRE

    1996-01-01

    It has been proposed that the focal adhesion kinase (FAK) mediates focal adhesion formation through tyrosine phosphorylation during cell adhesion. We investigated the role of FAK in focal adhesion structure and function. Loading cells with a glutathione-S-transferase fusion protein (GST-Cterm) containing the FAK focal adhesion targeting sequence, but not the kinase domain, decreased the association of endogenous FAK with focal adhesions. This displacement of endogenous FAK in both BALB/c 3T3 ...

  13. Dermal grafts for correction of severe chordee associated with hypospadias.

    Science.gov (United States)

    Horton, C E; Gearhart, J P; Jeffs, R D

    1993-08-01

    We report on 24 patients with hypospadias and severe chordee that could not be straightened with conventional techniques. We used small dermal grafts to augment the ventral tunica albuginea, which resulted in a completely straight, normal appearing erection in all patients. Subsequent urethroplasty was not complicated by the presence of the dermal graft. This procedure is technically straightforward and consistently results in a completely straight penis. Although required only rarely in hypospadias surgery, we recommend the dermal graft technique of tunica albuginea augmentation for cases of refractory chordee.

  14. Dermal reflectivity determined by optical coherence tomography is an indicator of epidermal hyperplasia and dermal edema within inflamed skin

    Science.gov (United States)

    Phillips, Kevin G.; Wang, Yun; Levitz, David; Choudhury, Niloy; Swanzey, Emily; Lagowski, James; Kulesz-Martin, Molly; Jacques, Steven L.

    2011-04-01

    Psoriasis is a common inflammatory skin disease resulting from genetic and environmental alterations of cutaneous immune responses. While numerous therapeutic targets involved in the immunopathogenesis of psoriasis have been identified, the in vivo dynamics of inflammation in psoriasis remain unclear. We undertook in vivo time course focus-tracked optical coherence tomography (OCT) imaging to noninvasively document cutaneous alterations in mouse skin treated topically with Imiquimod (IMQ), an established model of a psoriasis-like disease. Quantitative appraisal of dermal architectural changes was achieved through a two parameter fit of OCT axial scans in the dermis of the form A(x, y, z) = ρ(x, y)exp [ - μ(x, y)z]. Ensemble averaging over 2000 axial scans per mouse in each treatment arm revealed no significant changes in the average dermal attenuation rate, , however the average local dermal reflectivity , decreased significantly following 1, 3, and 6 days of IMQ treatment (p collagen fiber bundle enlargement, occur prior to epidermal thickness changes due to hyperplasia and dermal thickness changes due to edema. Dermal reflectivity positively correlated with epidermal hyperplasia (repi2 = 0.78) and dermal edema (rderm2 = 0.86). Our results suggest that dermal reflectivity as measured by OCT can be utilized to quantify a psoriasis-like disease in mice, and thus has the potential to aid in the quantitative assessment of psoriasis in humans.

  15. Prenatal and neonatal variables associated with enamel hypoplasia in deciduous teeth in low birth weight preterm infants

    Directory of Open Access Journals (Sweden)

    Kátia Maria Dmytraczenko Franco

    2007-12-01

    Full Text Available This study investigated possible prenatal and neonatal variables that may influence the prevalence of tooth enamel hypoplasia in preterm and low birth weight children (LBW and a matched control group of term children with normal birth weight (NBW. The study sample consisted of 61 children born preterm and with LBW examined at 18-34 months of age. The control group was formed by 61 infants born full term and with NBW examined at 31-35 months of age. All children were born at the Center of Integrated Attention of Women's Health (CAISM-UNICAMP. FDI criteria were followed for dental examination. Medical data was collected retrospectively from hospital records. Among preterms, 57.4% had some type of developmental defects of enamel (DDE, 52.5 % had opacities and 21.3 % presented hypoplasia. Among full-term children, 24.6% presented DDE, 24.6% had opacities and 3.3% had hypoplasia. LBW preterm infants presented a higher prevalence of hypoplasia than NBW controls. The deciduous teeth most affected by hypoplasia were maxillary incisors. There was no significant association with prenatal variables; among neonatal variables there was a significant association with respiratory distress syndrome and neurological examination at discharge with an altered result.

  16. Interferon Induced Focal Segmental Glomerulosclerosis

    Science.gov (United States)

    Bayram Kayar, Nuket; Alpay, Nadir; Hamdard, Jamshid; Emegil, Sebnem; Bag Soydas, Rabia; Baysal, Birol

    2016-01-01

    Behçet's disease is an inflammatory disease of unknown etiology which involves recurring oral and genital aphthous ulcers and ocular lesions as well as articular, vascular, and nervous system involvement. Focal segmental glomerulosclerosis (FSGS) is usually seen in viral infections, immune deficiency syndrome, sickle cell anemia, and hyperfiltration and secondary to interferon therapy. Here, we present a case of FSGS identified with kidney biopsy in a patient who had been diagnosed with Behçet's disease and received interferon-alpha treatment for uveitis and presented with acute renal failure and nephrotic syndrome associated with interferon. PMID:27847659

  17. Focal epithelial hyperplasia: Heck disease.

    Science.gov (United States)

    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.

  18. Focal epithelial hyperplasia (Heck's disease

    Directory of Open Access Journals (Sweden)

    Parichehr Gheliani

    2011-11-01

    Full Text Available Focal epithelial hyperplasia (Heck is a rare lesion caused by human papilloma virus subtype 13 or 32 and presents as multiple small white or pink papules on the mucosal surface of lips, buccal mucosa and tongue usually seen in children and adolescent of American Indian and Eskimo background. This disease has a genetic basis. The site of new lesions and recurrence are unpredictable. Continued follow up of the patient is often necessary. In this report, a 50-year-old woman is described with benign papillomatous lesions on dorsal surface of tongue for 15 years

  19. SNAP Satellite Focal Plane Development

    Energy Technology Data Exchange (ETDEWEB)

    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.

  20. IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.

    Science.gov (United States)

    Phillips, Katherine; Arroyo, May R; Duckworth, Lizette Vila

    2014-01-01

    We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended "cytomegalic" cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells).

  1. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Chengming Fan

    2015-01-01

    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  2. Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum [Hanyang University College of Medicine, Seoul Hospital, Seoul (Korea, Republic of); Ryu, Jeong Ah [Dept. of Radiology, Hanyang University College of Medicine, Guri Hospital, Guri (Korea, Republic of); Bae, Ji Yoon [Dept. of Pathology, National Police Hospital, Seoul (Korea, Republic of)

    2013-10-15

    Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

  3. Neuropsychological evaluation in an adolescent with cerebellar hypoplasia diagnosed with Asperger's Syndrome.

    Science.gov (United States)

    Moss, Robert A

    2013-01-01

    There is a growing body of literature describing cases of cognitive impairment associated with both acquired and developmental damage to the cerebellum. The current case study describes such a case involving a 17-year-old male with cerebellar hypoplasia, having incomplete formation of the vermis and atrophy of the interior cerebellar hemispheres. He had previously been diagnosed as having Asperger's Syndrome. A full neuropsychological evaluation was performed, including effort testing. This is followed by a comparison of the current results to previously reported cases, with a discussion of the heterogeneity of deficits associated with developmental cerebellum malformation.

  4. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Science.gov (United States)

    Fan, Chengming; Huang, Can; Liu, Jijia; Yang, Jinfu

    2015-01-01

    A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade. PMID:26294998

  5. Purkinje cell heterotopy with cerebellar hypoplasia in two free-living American kestrels (Falco sparverius).

    Science.gov (United States)

    Armién, A G; McRuer, D L; Ruder, M G; Wünschmann, A

    2013-01-01

    Two wild fledgling kestrels exhibited lack of motor coordination, postural reaction deficits, and abnormal propioception. At necropsy, the cerebellum and brainstem were markedly underdeveloped. Microscopically, there was Purkinje cells heterotopy, abnormal circuitry, and hypoplasia with defective foliation. Heterotopic neurons were identified as immature Purkinje cells by their size, location, immunoreactivity for calbindin D-28 K, and ultrastructural features. The authors suggest that this cerebellar abnormality was likely due to a disruption of molecular mechanisms that dictate Purkinje cell migration, placement, and maturation in early embryonic development. The etiology of this condition remains undetermined. Congenital central nervous system disorders have rarely been reported in birds.

  6. Tubular hypoplasia of the aorta and right atrioventricular valve dysplasia in a Bulldog.

    Science.gov (United States)

    Robinson, Nicholas A; Armíen, Aníbal G

    2010-07-01

    A Bulldog puppy that died at 1 day of age was presented for postmortem evaluation. Macroscopically, there was marked hypoplasia of the ascending, transverse, and proximal segments of the descending thoracic aorta and almost complete secondary thrombosis of the left ventricle causing a functional stenosis of the left atrioventricular valve. Separately, there was right atrioventricular valve dysplasia with secondary dilation of the right atrium. Microscopically, the left ventricular outflow tract was occluded by chondroid metaplasia, fibrosing recanalization of a left-ventricular thrombus, and isolated Purkinje fiber degeneration and necrosis.

  7. Pathogenesis of Focal Segmental Glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Beom Jin Lim

    2016-11-01

    Full Text Available Focal segmental glomerulosclerosis (FSGS is characterized by focal and segmental obliteration of glomerular capillary tufts with increased matrix. FSGS is classified as collapsing, tip, cellular, perihilar and not otherwise specified variants according to the location and character of the sclerotic lesion. Primary or idiopathic FSGS is considered to be related to podocyte injury, and the pathogenesis of podocyte injury has been actively investigated. Several circulating factors affecting podocyte permeability barrier have been proposed, but not proven to cause FSGS. FSGS may also be caused by genetic alterations. These genes are mainly those regulating slit diaphragm structure, actin cytoskeleton of podocytes, and foot process structure. The mode of inheritance and age of onset are different according to the gene involved. Recently, the role of parietal epithelial cells (PECs has been highlighted. Podocytes and PECs have common mesenchymal progenitors, therefore, PECs could be a source of podocyte repopulation after podocyte injury. Activated PECs migrate along adhesion to the glomerular tuft and may also contribute to the progression of sclerosis. Markers of activated PECs, including CD44, could be used to distinguish FSGS from minimal change disease. The pathogenesis of FSGS is very complex; however, understanding basic mechanisms of podocyte injury is important not only for basic research, but also for daily diagnostic pathology practice.

  8. Multi-focal multiphoton lithography.

    Science.gov (United States)

    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. Acquired ichthyosis and impaired dermal lipogenesis in Hodgkin's disease.

    Science.gov (United States)

    Cooper, M F; Wilson, P D; Hartop, P J; Shuster, S

    1980-06-01

    Epidermal lipid biosynthesis was normal in patients with mild ichthyosis due to Hodgkin's disease, but greatly reduced in one patient with severe ichthyosis. Dermal (sebaceous) lipid synthesis was decreased in all patients with Hodgkin's disease, whether or not they had ichthyosis, and was greatly reduced in the patient with severe ichthyosis. Neither the mechanism nor the possible relationship between the dermal and epidermal changes is understood.

  10. Trends in pediatric ostomy surgery: intestinal diversion for necrotizing enterocolitis and biliary diversion for biliary hypoplasia syndromes.

    Science.gov (United States)

    Bastawrous, A A; Torosian, M B; Statter, M B; Arensman, R M

    1995-11-01

    Ostomies are placed in children for different indications than in the older population. Many ostomies of childhood are placed because of congenital or neonatal problems that require temporary or long-term diversion to stabilize the neonatal patient. Necrotizing enterocolitis, the most common reason for placement of neonatal colostomies and ileostomies, is increasing in frequency as more prematurely born infants survive. Recently, there has been an increase in treatment of various biliary hypoplasia syndromes with biliary cutaneous diversion. Children with biliary hypoplasia syndromes are a challenging group of patients who frequently can be helped by ostomies. This article reviews current information on biliary cutaneous diversion for the biliary hypoplasia syndromes and intestinal diversion for necrotizing enterocolitis.

  11. Evaluation of dermal fillers with noncontact optical coherence elastography

    Science.gov (United States)

    Singh, Manmohan; Wang, Shang; Yee, Richard W.; Han, Zhaolong; Aglyamov, Salavat R.; Larin, Kirill V.

    2017-02-01

    Over 2 million dermal filler procedures are performed each year in the USA alone, and this figure is only expected to increase as the aging population continues to grow. Dermal filler treatments can last from a few months to years depending on the type of filler and its placement. Although adverse reactions are rare, they can be quite severe due to ischemic events and filler migration. Previously, techniques such as ultrasound or magnetic resonance imaging have been used to evaluate the filler injections. However, these techniques are not practical for real-time filler injection guidance due to limitations such as the physical presence of the transducer. In this work, we propose the use of optical coherence tomography (OCT) for image-guided dermal filler injections due to the high spatial and temporal resolution of OCT. In addition, we utilize a noncontact optical coherence elastography (OCE) technique, to evaluate the efficacy of the dermal filler injection. A grid of air-pulse OCE measurements was taken, and the dynamic response of the skin to the air-pulse was translated to the Young's modulus and shear viscosity. Our results show that OCT was able to visualize the dermal filler injection process, and that OCE was able to localize the dermal filler injection sites. Combined with functional techniques such as optical microangiography, and recent advanced in OCT hardware, OCT may be able to provide real-time injection guidance in 3D by visualizing blood vessels to prevent ischemic events.

  12. Microneedle technologies for (trans)dermal drug and vaccine delivery.

    Science.gov (United States)

    van der Maaden, Koen; Jiskoot, Wim; Bouwstra, Joke

    2012-07-20

    Microneedles have been used for the dermal and transdermal delivery of a broad range of drugs, such as small molecular weight drugs, oligonucleotides, DNA, peptides, proteins and inactivated viruses. However, until now there are no microneedle-based (trans)dermal drug delivery systems on the market. In the past decade various types of microneedles have been developed by a number of production processes. Numerous geometries of microneedles have been designed from various materials. These microneedles have been used for different approaches of microneedle-based (trans)dermal drug delivery. Following a brief introduction about dermal and transdermal drug delivery, this review describes different production methods for solid and hollow microneedles as well as conditions that influence skin penetration. Besides, the four microneedle-based (trans)dermal drug delivery approaches are discussed: "poke and flow", "poke and patch", "poke and release", and "coat and poke". A separate section of this review is devoted to the use of microneedles for the delivery of therapeutic proteins and vaccines. Finally, we give our view on research and development that is needed to render microneedle-based (trans)dermal drug delivery technologies clinically useful in the near future.

  13. Dermal sensitization quantitative risk assessment (QRA) for fragrance ingredients.

    Science.gov (United States)

    Api, Anne Marie; Basketter, David A; Cadby, Peter A; Cano, Marie-France; Ellis, Graham; Gerberick, G Frank; Griem, Peter; McNamee, Pauline M; Ryan, Cindy A; Safford, Robert

    2008-10-01

    Based on chemical, cellular, and molecular understanding of dermal sensitization, an exposure-based quantitative risk assessment (QRA) can be conducted to determine safe use levels of fragrance ingredients in different consumer product types. The key steps are: (1) determination of benchmarks (no expected sensitization induction level (NESIL)); (2) application of sensitization assessment factors (SAF); and (3) consumer exposure (CEL) calculation through product use. Using these parameters, an acceptable exposure level (AEL) can be calculated and compared with the CEL. The ratio of AEL to CEL must be favorable to support safe use of the potential skin sensitizer. This ratio must be calculated for the fragrance ingredient in each product type. Based on the Research Institute for Fragrance Materials, Inc. (RIFM) Expert Panel's recommendation, RIFM and the International Fragrance Association (IFRA) have adopted the dermal sensitization QRA approach described in this review for fragrance ingredients identified as potential dermal sensitizers. This now forms the fragrance industry's core strategy for primary prevention of dermal sensitization to these materials in consumer products. This methodology is used to determine global fragrance industry product management practices (IFRA Standards) for fragrance ingredients that are potential dermal sensitizers. This paper describes the principles of the recommended approach, provides detailed review of all the information used in the dermal sensitization QRA approach for fragrance ingredients and presents key conclusions for its use now and refinement in the future.

  14. Relationship of A1 segment hypoplasia to anterior communicating artery aneurysm morphology and risk factors for aneurysm formation.

    Science.gov (United States)

    Rinaldo, Lorenzo; McCutcheon, Brandon A; Murphy, Meghan E; Bydon, Mohamad; Rabinstein, Alejandro A; Lanzino, Giuseppe

    2016-09-30

    OBJECTIVE Hypoplasia of the A1 segment of the anterior cerebral artery is frequently observed in patients with anterior communicating artery (ACoA) aneurysms. The effect of this anatomical variant on ACoA aneurysm morphology is not well understood. METHODS Digital subtraction angiography images were reviewed for 204 patients presenting to the authors' institution with either a ruptured or an unruptured ACoA aneurysm. The ratio of the width of the larger A1 segment to the smaller A1 segment was calculated. Patients with an A1 ratio greater than 2 were categorized as having A1 segment hypoplasia. The relationship of A1 segment hypoplasia to both patient and aneurysm characteristics was then assessed. RESULTS Of 204 patients that presented with an ACoA aneurysm, 34 (16.7%) were found to have a hypoplastic A1. Patients with A1 segment hypoplasia were less likely to have a history of smoking (44.1% vs 62.9%, p = 0.0410). ACoA aneurysms occurring in the setting of a hypoplastic A1 were also found to have a larger maximum diameter (mean 7.7 vs 6.0 mm, p = 0.0084). When considered as a continuous variable, increasing A1 ratio was associated with decreasing aneurysm dome-to-neck ratio (p = 0.0289). There was no significant difference in the prevalence of A1 segment hypoplasia between ruptured and unruptured aneurysms (18.9% vs 10.7%; p = 0.1605). CONCLUSIONS Our results suggest that a hypoplastic A1 may affect the morphology of ACoA aneurysms. In addition, the relative lack of traditional risk factors for aneurysm formation in patients with A1 segment hypoplasia argues for the importance of hemodynamic factors in the formation of ACoA aneurysms in this anatomical setting.

  15. RF/Optical Demonstration: Focal Plane Assembly

    Science.gov (United States)

    Hoppe, D. J.; Chung, S.; Kovalik, J.; Gama, E.; Fernandez, M. M.

    2016-11-01

    In this article, we describe the second-generation focal plane optical assembly employed in the RF/optical demonstration at DSS-13. This assembly receives reflected light from the two mirror segments mounted on the RF primary. The focal plane assembly contains a fast steering mirror (FSM) to stabilize the focal plane spot, a pupil camera to aid in aligning the two segments, and several additional cameras for receiving the optical signal prior to as well as after the FSM loop.

  16. Periodontitis in patients with focal tuberculosis

    Directory of Open Access Journals (Sweden)

    Alexandrova Е.А.

    2010-12-01

    Full Text Available The research goal is to investigate the mechanisms of formation and peculiarities of periodontitis in patients with focal tuberculosis. Patients with periodontitis and focal tuberculosis are proved to develop local inflammatory reaction with increased infection and activation of proinflammatory cytokines in parodontal pockets fluid. The main risk factor of frequent and durable recurrence of parodontal pathology in case of focal tuberculosis was the development of pathologic process as a cause of disbalance of lipid peroxidation and antioxidant system, endotoxicosis syndrome

  17. Long-Term Followup of Dermal Substitution with Acellular Dermal Implant in Burns and Postburn Scar Corrections

    OpenAIRE

    Juhasz, I.; Kiss, B.; Lukacs, L.; Erdei, I.; Peter, Z.; Remenyik, E.

    2010-01-01

    Full-thickness burn and other types of deep skin loss will result in scar formation. For at least partial replacement of the lost dermal layer, there are several options to use biotechnologically derived extracellular matrix components or tissue scaffolds of cadaver skin origin. In a survey, we have collected data on 18 pts who have previously received acellular dermal implant Alloderm. The age of these patients at the injury varied between 16 months and 84 years. The average area of the impl...

  18. Hypoplasia-associated severe early childhood caries--a proposed definition.

    Science.gov (United States)

    Caufield, P W; Li, Y; Bromage, T G

    2012-06-01

    We propose a new classification of severe early childhood caries (S-ECC): hypoplasia-associated severe early childhood caries (HAS-ECC). This form of caries affects mostly young children living at or below poverty, characterized by structurally damaged primary teeth that are particularly vulnerable to dental caries. These predisposing developmental dental defects are mainly permutations of enamel hypoplasia (EHP). Anthropologists and dental researchers consider EHP an indicator for infant and maternal stresses including malnutrition, a variety of illnesses, and adverse birthing conditions. Differentiation of HAS-ECC from other forms of early childhood caries is warranted because of its distinct etiology, clinical presentation, and eventual management. Defining HAS-ECC has important clinical implications: Therapies that control or prevent other types of caries are likely to be less effective with HAS-ECC because the structural integrity of the teeth is compromised prior to their emergence into the oral cavity. By the time these children present to the dentist, the treatment options often become limited to surgical management under general anesthesia. To prevent HAS-ECC, dentists must partner with other health providers to develop interventions that begin with pregnant mothers, with the aim of eliminating or ameliorating the covariates accompanying poverty, including better pre- and post-natal care and nutrition.

  19. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

    Science.gov (United States)

    Li, Zejuan; Schonberg, Rhonda; Guidugli, Lucia; Johnson, Amy Knight; Arnovitz, Stephen; Yang, Sandra; Scafidi, Joseph; Summar, Marshall L; Vezina, Gilbert; Das, Soma; Chapman, Kimberly; del Gaudio, Daniela

    2016-01-01

    Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy, microcephaly, severe mental and motor impairments and seizures. Mutations in 11 genes have been reported in 8 out of 10 forms of PCH. Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase gene (RARS2) have been recently associated with PCH type 6, which is characterized by early-onset encephalopathy with signs of oxidative phosphorylation defect. Here we describe the clinical presentation, neuroimaging findings and molecular characterizations of two siblings with a clinical diagnosis of PCH who displayed a novel variant (c.-2A>G) in the 5′-UTR of the RARS2 gene in the homozygous state. This variant was identified through next-generation sequencing testing of a panel of nine genes known to be involved in PCH. Gene expression and functional studies demonstrated that the c.-2A>G sequence change directly leads to a reduced RARS2 messenger RNA expression in the patients by decreasing RARS2 promoter activity, thus providing evidence that mutations in the RARS2 promoter are likely to represent a new causal mechanism of PCH6. PMID:25809939

  20. Isolated Hypoplasia of Left Pulmonary Artery with Agenesis of Left Lobe of Thyroid: A Case Report.

    Science.gov (United States)

    Khadir, Mohammed Abdul; Narayana, Ganesh; Ramagopal, Ganavi; Nayar, Pradeep G

    2016-12-01

    Isolated Unilateral hypoplasia or agenesis of a branch of pulmonary artery is very rare. It is usually seen associated with congenital heart diseases such as tetralogy of Fallot, atrial septal defect, coarctation of the aorta, right aortic arch, truncus arteriosus, patent ductus arteriosus and pulmonary atresia. It occurs as a result of lack of embryological development of either the left or right sixth aortic arch and has been found to present itself with various clinical manifestations as during childhood it presents as contralateral pulmonary hypertension and in adults as haemoptysis. Early diagnosis and early surgical indication avoids the evolution of pulmonary hypertension to unfavourble state of more severe and progressive degrees and also prevents the development of pulmonary systemic collateral circulation, which is mainly responsible for subsequent haemoptysis in the adulthood. We hereby, report the case of an infant who presented with features of lower respiratory tract infection and later diagnosed as isolated congenital hypoplasia of left pulmonary artery and hence planned for proper follow-up for early surgery thereby preventing complications in the future.

  1. Chronic hepatitis C infection in a patient with bone marrow hypoplasia

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Chronic hepatitis C virus (HCV) infection is associated with multifarious extra-hepatic manifestations; the most described and discussed being mixed cryoglob- ulinemia which is strongly related to B-cell lympho- proliferative disorders (LPDs). We present a case of chronic HCV infection and mixed cryoglobulinemia, with minimal liver involvement. The case is a 53-year- old patient who was diagnosed as having bone marrow hypoplasia at the age of three. She received several blood transfusions to normalize her haemoglobin. At the age of 31, she was diagnosed with rheumatoid ar- thritis on account of her diffuse joint pain and inflam- mation, elevated rheumatoid factor (RF) and Raynaud's phenomenon. Twenty years later, monoclonal gam- mopathy of IgG Lambda (one year later, changed to IgM Kappa) was detected during a routine examina- tion. A bone marrow biopsy showed hypoplasia, Kappa positive B-lymphocytes and low-grade malignant lym- phoma cells. PCR of the bone marrow aspirate was not contributory. No treatment was initiated owing to her poor bone marrow function and she is under regular follow-up.

  2. Potential risk factors in systemic hypoplasia and dental caries at odontogenesis stage

    Directory of Open Access Journals (Sweden)

    Kovach I.V.

    2013-03-01

    Full Text Available Lesion of hard dental tissue with caries process and lesions not connected with caries present overwhelming majority of dental diseases. Causes leading to damage of enamel integrity and dentin with progressing demineralization are known; they allow to choose justified method of primary prophylaxis. Along with it, etiology and pathogenesis of enamel lesions with demineralization signs remains unexplored. Epidemiologic study of prevalence, incidence and severity of lesion of hard dental tissues in 330 pupils, who constantly live on endemic iodine-defficient territory, of three zones – mountain zone, foothill and valley. For comparison, schoolchildren migrated to this territory 2-3 years after birth, and children – residents of favorable as for iodine level in drinking water were examined, 30 children in each group. It was established, that overwhelming number of schoolchildren of endemic zone suffer from endemic goiter of various severity, which sufficiently impacts on protein-mineral ratio of the organism, bone skeleton and teeth including. It was also established, that residents of three various levels of iodine consumption are prone to development of multiple dental caries and systemic enamel hypoplasia. Children, residents of mountain zone suffer the most, with simultaneous lesion of thyroid gland. The role of endemic goiter in systemic dental enamel hypoplasia and multiple caries, which changes protein matrix, negatively impacts on odontogenesis and mineralization degree is underlined.

  3. Accuracy of imaging parameters in the prediction of lethal pulmonary hypoplasia secondary to mid-trimester prelabor rupture of fetal membranes: a systematic review and meta-analysis.

    Science.gov (United States)

    van Teeffelen, A S P; Van Der Heijden, J; Oei, S G; Porath, M M; Willekes, C; Opmeer, B; Mol, B W J

    2012-05-01

    In women who have suffered mid-trimester prelabor rupture of membranes (PPROM), prediction of pulmonary hypoplasia is important for optimal management. We performed a systematic review to assess the capacity of imaging parameters to predict pulmonary hypoplasia. We searched for published articles that reported on biometric parameters and allowed the construction of a 2 × 2 table, comparing at least one of these parameters with the occurrence of pulmonary hypoplasia. The selected studies were scored on methodological quality and we calculated sensitivity and specificity of the tests in the prediction of pulmonary hypoplasia and lethal pulmonary hypoplasia. Overall performance was assessed by summary receiver-operating characteristics (sROC) analyses that were performed with bivariate meta-analysis. We detected 13 studies that reported on the prediction of lethal pulmonary hypoplasia. The quality of the included studies was poor to mediocre. The estimated sROC curves for the chest circumference/abdominal circumference ratio and other parameters showed limited accuracy in the prediction of pulmonary hypoplasia. In women with mid-trimester PPROM, the available evidence indicates limited accuracy of biometric parameters in the prediction of pulmonary hypoplasia.

  4. Fine needle aspiration cytology of dermal cylindroma

    Directory of Open Access Journals (Sweden)

    Parikshaa Gupta

    2014-01-01

    Full Text Available In this paper, we have described fine needle aspiration cytology (FNAC of a rare case of dermal cylindroma. A 40-year-old female presented with a lateral mid-cervical swelling fixed to the skin. FNAC smears showed multiple clusters of small, round to oval cells with hyperchromatic nuclei, inconspicuous nucleoli and scant cytoplasm. In addition, the background showed deposits of basement membrane type material. This was dark magenta colored pinkish globular material. The globules were occasionally surrounded by the basal type of cells. Occasional cells with elongated nuclei were also noted. Cytological diagnosis of skin adnexal tumor possibly cylindroma was offered. Subsequent histopathology of the swelling showed sheets and clusters of cells in a jigsaw puzzle-like fashion. Deposition of abundant basement membrane-like material was noted in between the tumor cells. A diagnosis of cylindorma was offered. FNAC along with the subcutaneous location of the tumor and absence of primary salivary gland tumor may help to diagnose such rare case.

  5. Dermal factors influencing measurement of skin autofluorescence.

    Science.gov (United States)

    Noordzij, Margaretha J; Lefrandt, Joop D; Graaff, Reindert; Smit, Andries J

    2011-02-01

    Skin autofluorescence (SAF) is a noninvasive marker of accumulation of advanced glycation end products. It predicts cardiovascular complications and mortality in diabetes and renal failure. We assessed the influence of potential common confounders in SAF measurement, by determining the effects of endogenous and exogenous local dermal changes by body creams, hyperemia, vasoconstriction, and hydration. SAF was measured before and after local administration of body lotion, day cream, sunscreen, or self-browning cream and after attempts to remove these effects with alcohol swabs and washing. SAF was measured before and during three hyperemia maneuvers: vasoconstriction and on a dry and wet skin. The body lotion increased SAF by 18%. Day cream, sunscreen, and self-browning cream gave an increase of >100%. Except for body lotion, subsequent cleaning with alcohol swabs and washing with soap did not return SAF to baseline values. The effect of self-browning cream persisted for 2 weeks and that of sunscreen for 4 days. Hyperemia caused by a hot bath, capsicum cream, or postocclusive reactive hyperemia gave a decrease in SAF of, respectively, 18%, 22%, and 2.3%. Vasoconstriction caused by immersing the arm in cold water gave a 10% increase. Hydration state did not influence SAF. Measurement of SAF is strongly affected by several skin creams. This effect was often not fully corrected by alcohol swabs and washing with soap and may persist for many days. Marked hyperemia and vasoconstriction also influence SAF. We advise avoiding these potential error sources.

  6. ABCB5 Identifies Immunoregulatory Dermal Cells

    Directory of Open Access Journals (Sweden)

    Tobias Schatton

    2015-09-01

    Full Text Available Cell-based strategies represent a new frontier in the treatment of immune-mediated disorders. However, the paucity of markers for isolation of molecularly defined immunomodulatory cell populations poses a barrier to this field. Here, we show that ATP-binding cassette member B5 (ABCB5 identifies dermal immunoregulatory cells (DIRCs capable of exerting therapeutic immunoregulatory functions through engagement of programmed cell death 1 (PD-1. Purified Abcb5+ DIRCs suppressed T cell proliferation, evaded immune rejection, homed to recipient immune tissues, and induced Tregs in vivo. In fully major-histocompatibility-complex-mismatched cardiac allotransplantation models, allogeneic DIRCs significantly prolonged allograft survival. Blockade of DIRC-expressed PD-1 reversed the inhibitory effects of DIRCs on T cell activation, inhibited DIRC-dependent Treg induction, and attenuated DIRC-induced prolongation of cardiac allograft survival, indicating that DIRC immunoregulatory function is mediated, at least in part, through PD-1. Our results identify ABCB5+ DIRCs as a distinct immunoregulatory cell population and suggest promising roles of this expandable cell subset in cellular immunotherapy.

  7. ABCB5 identifies immunoregulatory dermal cells

    Science.gov (United States)

    Schatton, Tobias; Yang, Jun; Kleffel, Sonja; Uehara, Mayuko; Barthel, Steven R.; Schlapbach, Christoph; Zhan, Qian; Dudeney, Stephen; Mueller, Hansgeorg; Lee, Nayoung; de Vries, Juliane C.; Meier, Barbara; Vander Beken, Seppe; Kluth, Mark A.; Ganss, Christoph; Sharpe, Arlene H.; Waaga-Gasser, Ana Maria; Sayegh, Mohamed H.; Abdi, Reza; Scharffetter-Kochanek, Karin; Murphy, George F.; Kupper, Thomas S.; Frank, Natasha Y.; Frank, Markus H.

    2015-01-01

    Summary Cell-based strategies represent a new frontier in the treatment of immune-mediated disorders. However, the paucity of markers for isolation of molecularly-defined immunomodulatory cell populations poses a barrier to this field. Here we show that ATP-binding cassette member B5 (ABCB5) identifies dermal immunoregulatory cells (DIRCs) capable of exerting therapeutic immunoregulatory functions through engagement of programmed cell death 1 (PD-1). Purified Abcb5+ DIRCs suppressed T-cell proliferation, evaded immune rejection, homed to recipient immune tissues and induced Tregs in vivo. In fully MHC-mismatched cardiac allotransplantation models, allogeneic DIRCs significantly prolonged allograft survival. Blockade of DIRC-expressed PD-1 reversed the inhibitory effects of DIRCs on T-cell activation, inhibited DIRC-dependent Treg induction, and attenuated DIRC-induced prolongation of cardiac allograft survival, indicating that DIRC immunoregulatory function is mediated, at least in part, through PD-1. Our results identify ABCB5+ DIRCs as a distinct immunoregulatory cell population and suggest promising roles of this expandable cell subset in cellular immunotherapy. PMID:26321644

  8. Emotional intelligence and electro-dermal activity.

    Science.gov (United States)

    Zysberg, Leehu

    2012-09-01

    Emotional intelligence (EI) is a promising concept in our understanding of emotional regulation, related behaviors and pathologies. However, research linking EI to underlying physiological and biological structure and responses is meager. This study explored potential associations of EI with electro-dermal activity (EDA) responses to emotionally arousing visual stimuli. It was hypothesized that higher levels of EI will associate with more efficient emotional regulation as reflected by EDA. Eighty-four healthy participants were exposed to stimuli consisting of a series of 12 images designed to evoke positive or negative emotional responses, presented in a counterbalanced order. A self-report questionnaire and a computer based test of EI were administered along with a demographic questionnaire. EDA measures were taken during the exposure to the above stimuli using BIOPACK MP150. EI test scores (Beta = .35, .32; p self-report measure of EI and other demographics (e.g., gender. ethnicity) did not show any associations with the outcome measures. The results support the relevance of the concept to our understanding of emotional responses and regulation. The findings are briefly discussed within the context of underlying mechanisms of EI as well as measure validity and relevance.

  9. Focal properties of geodesic waveguide lenses

    Science.gov (United States)

    Verber, C. M.; Vahey, D. W.; Wood, V. E.

    1976-01-01

    The focal properties of uncorrected geodesic lenses in ion-exchanged glass waveguides are reported. A 13.8-mm-focal-length lens resolved beams with an angular separation of 27.6 mrad, while a 28-mm-focal-length lens resolved beams with an angular separation of only 3.3 mrad. Intensity profiles of the focal region of the former lens revealed a 40-micron spot size when the input aperture was 5 mm, and a spot size of 7.7 microns when the aperture was reduced to 1 mm. This value is close to the diffraction-limited spot size of 5.7 microns.

  10. Large Format Uncooled Focal Plane Array Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Black Forest Engineering has identified innovative modifications in uncooled focal plane array (UFPA) architecture and processing that allows development of large...

  11. Focal epithelial hyperplasia - an update.

    Science.gov (United States)

    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.

  12. Focal fatty infiltra- tion and focal fatty sparing of the liver

    African Journals Online (AJOL)

    Enrique

    Focal fatty infiltration of the liver is caused by focal ... has also been described in children.1. The most common cause is alcohol abuse, although diabetes, obesity, cer- tain drugs, toxins ... infiltration was not initially consid- ered are reported.

  13. Asphalt fume dermal carcinogenicity potential: I. dermal carcinogenicity evaluation of asphalt (bitumen) fume condensates.

    Science.gov (United States)

    Clark, Charles R; Burnett, Donald M; Parker, Craig M; Arp, Earl W; Swanson, Mark S; Minsavage, Gary D; Kriech, Anthony J; Osborn, Linda V; Freeman, James J; Barter, Robert A; Newton, Paul E; Beazley, Shelley L; Stewart, Christopher W

    2011-10-01

    Asphalt (bitumen) fume condensates collected from the headspace above paving and Type III built up roofing asphalt (BURA) tanks were evaluated in two-year dermal carcinogenicity assays in male C3H/HeNCrl mice. A third sample was generated from the BURA using a NIOSH laboratory generation method. Similar to earlier NIOSH studies, the BURA fume condensates were applied dermally in mineral oil twice per week; the paving sample was applied 7 days/week for a total weekly dose of 50 mg/wk in both studies. A single benign papilloma was observed in a group of 80 mice exposed to paving fume condensate at the end of the two-year study and only mild skin irritation was observed. The lab generated BURA fume condensate resulted in statistically significant (P<0.0001) increases in squamous cell carcinomas (35 animals or 55% of animals at risk). The field-matched BURA condensate showed a weaker but significant (P=0.0063) increase (8 carcinomas or 13% of animals) and a longer average latency (90 weeks vs. 76 for the lab fume). Significant irritation was observed in both BURA condensates. It is concluded that the paving fume condensate was not carcinogenic under the test conditions and that the field-matched BURA fume condensate produced a weak tumor response compared to the lab generated sample.

  14. Human Dermal Stem/Progenitor Cell-Derived Conditioned Medium Improves Senescent Human Dermal Fibroblasts

    Directory of Open Access Journals (Sweden)

    Ji-Yong Jung

    2015-08-01

    Full Text Available Adult skin stem cells are recognized as potential therapeutics to rejuvenate aged skin. We previously demonstrated that human dermal stem/progenitor cells (hDSPCs with multipotent capacity could be enriched from human dermal fibroblasts using collagen type IV. However, the effects of hDSPCs on cellular senescence remain to be elucidated. In the present study, we investigated whether conditioned medium (CM collected from hDSPC cultures (hDSPC-CM exhibits beneficial effects on senescent fibroblasts. We found that hDSPC-CM promoted proliferation and decreased the expression level of senescence-associated β-galactosidase in senescent fibroblasts. In addition, p53 phosphorylation and p21 expression were significantly reduced in senescent fibroblasts treated with hDSPC-CM. hDSPC-CM restored the expression levels of collagen type I, collagen type III, and tissue inhibitor of metalloproteinase, and antagonized the increase of matrix metalloproteinase 1 expression. Finally, we demonstrated that hDSPC-CM significantly reduced reactive oxygen species levels by specifically up-regulating the expression level of superoxide dismutase 2. Taken together, these data suggest that hDSPC-CM can be applied as a potential therapeutic agent for improving human aged skin.

  15. Fast & Furious focal-plane wavefront sensing

    NARCIS (Netherlands)

    Korkiakoski, V.A.; Keller, C.U.; Doelman, N.; Kenworthy, M.; Otten, G.; Verhaegen, M.H.G.

    2014-01-01

    We present two complementary algorithms suitable for using focal-plane measurements to control a wavefront corrector with an extremely high-spatial resolution. The algorithms use linear approximations to iteratively minimize the aberrations seen by the focal-plane camera. The first algorithm, Fast &

  16. Focal-plane sensor-processor chips

    CERN Document Server

    Zarándy, Ákos

    2011-01-01

    Focal-Plane Sensor-Processor Chips explores both the implementation and application of state-of-the-art vision chips. Presenting an overview of focal plane chip technology, the text discusses smart imagers and cellular wave computers, along with numerous examples of current vision chips.

  17. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

    DEFF Research Database (Denmark)

    Lardelli, Rea M.; Schaffer, Ashleigh E.; Eggens, Veerle R C

    2017-01-01

    Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg 2+ -dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a un...

  18. Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management

    Directory of Open Access Journals (Sweden)

    Guru Dutta Satyarthee

    2016-01-01

    Full Text Available Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating.

  19. Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management

    Science.gov (United States)

    Satyarthee, Guru Dutta; Mankotia, Dipanker Singh

    2016-01-01

    Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating. PMID:27857796

  20. A Multidisciplinary Approach to Educating Preschool Children with Optic Nerve Hypoplasia and Septo-Optic Nerve Dysplasia.

    Science.gov (United States)

    Bahar, Cheryl; Brody, Jill; McCann, Mary Ellen; Mendiola, Rosalinda; Slott, Gayle

    2003-01-01

    This article discusses the observations and experiences of a multidisciplinary team at the Blind Childrens Center in Los Angeles, which works specifically with children from birth to 5 years of age who have been diagnosed with optic nerve hypoplasia and may have septo-optic displasia. Strategies for educational interventions are explained.…

  1. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

    Science.gov (United States)

    Perez, Yonatan; Gradstein, Libe; Flusser, Hagit; Markus, Barak; Cohen, Idan; Langer, Yshaia; Marcus, Mira; Lifshitz, Tova; Kadir, Rotem; Birk, Ohad S

    2014-05-01

    Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia.

  2. Alteration of Skin Properties with Autologous Dermal Fibroblasts

    Directory of Open Access Journals (Sweden)

    Rajesh L. Thangapazham

    2014-05-01

    Full Text Available Dermal fibroblasts are mesenchymal cells found between the skin epidermis and subcutaneous tissue. They are primarily responsible for synthesizing collagen and glycosaminoglycans; components of extracellular matrix supporting the structural integrity of the skin. Dermal fibroblasts play a pivotal role in cutaneous wound healing and skin repair. Preclinical studies suggest wider applications of dermal fibroblasts ranging from skin based indications to non-skin tissue regeneration in tendon repair. One clinical application for autologous dermal fibroblasts has been approved by the Food and Drug Administration (FDA while others are in preclinical development or various stages of regulatory approval. In this context, we outline the role of fibroblasts in wound healing and discuss recent advances and the current development pipeline for cellular therapies using autologous dermal fibroblasts. The microanatomic and phenotypic differences of fibroblasts occupying particular locations within the skin are reviewed, emphasizing the therapeutic relevance of attributes exhibited by subpopulations of fibroblasts. Special focus is provided to fibroblast characteristics that define regional differences in skin, including the thick and hairless skin of the palms and soles as compared to hair-bearing skin. This regional specificity and functional identity of fibroblasts provides another platform for developing regional skin applications such as the induction of hair follicles in bald scalp or alteration of the phenotype of stump skin in amputees to better support their prosthetic devices.

  3. Focal brain inflammation and autism.

    Science.gov (United States)

    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.

  4. Focal Plane Instrumentation of VERITAS

    CERN Document Server

    Nagai, T; Sleege, G; Petry, D

    2007-01-01

    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 1268m above sea level. The array consists of four 12-m telescopes of Davies-Cotton design and structurally resembling the Whipple 10-m telescope. The four 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 0.15 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 preamplifiers allowing operation at modest anode current and giving good single photoelectron peaks in situ. Electronics in the focus box provides real-time monitoring of the anode currents for each pixel and ambient environmental conditions. A charge injection subsystem installed in the focus box allows daytime testing of the trigger and data acquisition system b...

  5. Early vision and focal attention

    Science.gov (United States)

    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.

  6. Focal liver lesions found incidentally

    Institute of Scientific and Technical Information of China (English)

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

    2016-01-01

    Incidentally found focal liver lesions are a commonfinding 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 con-traceptive 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.

  7. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

    Science.gov (United States)

    Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

    2013-12-05

    Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here, we report that these defects can occur independently of albinism in people with recessive mutations in the putative glutamine transporter gene SLC38A8. Nine different mutations were identified in seven Asian and European families. Using morpholino-mediated ablation of Slc38a8 in medaka fish, we confirmed that pigmentation is unaffected by loss of SLC38A8. Furthermore, by undertaking an association study with SNPs at the SLC38A8 locus, we showed that common variants within this gene modestly affect foveal thickness in the general population. This study reveals a melanin-independent component underpinning the development of the visual pathway that requires a functional role for SLC38A8.

  8. A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

    Directory of Open Access Journals (Sweden)

    Miyake T

    2016-07-01

    Full Text Available Tomoko Miyake,1 Shota Kojima,1 Tetsuya Sugiyama,2 Mari Ueki,1 Jun Sugasawa,1 Hidehiro Oku,1 Kensuke Tajiri,1 Yuka Shigemura,3 Koichi Ueda,3 Atsuko Harada,4 Mami Yamasaki,4 Takumi Yamanaka,4 Hidetsuna Utsunomiya,5 Tsunehiko Ikeda1 1Department of Ophthalmology, Osaka Medical College, Takatsuki City, 2Nakano Eye Clinic of Kyoto Medical Co-operative, Kyoto, 3Department of Plastic and Reconstructive Surgery, Osaka Medical College, Takatsuki City, 4Department of Pediatric Neurosurgery, Takatsuki General Hospital, Takatsuki City, 5Department of Radiological Science, International University of Health and Welfare, Graduate School, Fukuoka, Japan Introduction: The incidence of facial cleft is rare and ranges between 1.43 and 4.85 per 100,000 births. To date, there have been few reports of detailed ophthalmologic examinations performed in cases of facial cleft. Here, we report a case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. Case report: A 9-day-old female infant was delivered by cesarian section at 34 weeks of gestational age (the second baby of twins and weighed 2,276 g upon presentation. She had a facial cleft and ectrodactyly at birth. Right eye-dominant blepharophimosis was obvious. Examination of the right eye revealed inferior corneal opacity with vascularization, downward corectopia, and optic-nerve hypoplasia. The corneal diameter was 8 mm in both eyes, and tonometry by use of a Tono-Pen® XL (Reichert Technologies, Depew, NY, USA handheld applanation tonometer revealed that her intraocular pressure was 11–22 mmHg (Oculus Dexter and 8 mmHg (Oculus Sinister. B-mode echo revealed no differences in axial length between her right and left eyes. When she was 15–16 months old, we attempted to examine her eyes before she underwent plastic surgery under general anesthesia. She had a small optic disc in both eyes and the right-eye disc was tilted. After undergoing canthotomy, gonioscopy and ultrasound

  9. Bilateral bony fusion around the supraspinatus muscle inducing muscle hypoplasia and shoulder pain

    Energy Technology Data Exchange (ETDEWEB)

    Son, YeNa; Jin, Wook; Park, So Young [Kyung Hee University Hospital at Gangdong, Department of Radiology, 892, Dongnam-ro, Gangdong-gu, Seoul (Korea, Republic of); Ryu, Kyung Nam; Park, Ji Seon [Kyung Hee University Hospital, Department of Radiology, 23 Kyunghee-daero, Dongdaemun-gu, Seoul (Korea, Republic of)

    2017-03-15

    We describe the case of a 30-year-old man who developed chronic bilateral shoulder pain that relapsed and remitted over the course of 1 year. The patient was diagnosed with congenital shoulder fusion anomalies. The right shoulder showed anomalous accessory articulation between the distal third of the clavicle and the acromion along with normal articulation of the shoulder on CT. At the left shoulder, bony fusions were present between the distal portion of the clavicle, the acromion, and the coracoid process, and between the coracoid process, upper portion of the glenoid, and upper body of the scapula, which formed a bony canal and was responsible for hypoplasia of the supraspinatus muscle on CT and MRI. To our knowledge, this is the first description of such congenital shoulder anomalies with extreme bony fusion and is an illustrative example of how imaging may be used to differentiate fusion from other congenital abnormalities of the shoulder to aid diagnosis. (orig.)

  10. Esthetic and endosurgical management of Turner's hypoplasia; a sequlae of trauma to developing tooth germ.

    Science.gov (United States)

    Bhushan, B A; Garg, S; Sharma, D; Jain, M

    2008-01-01

    Turner's hypoplasia usually manifests as a portion of missing or diminished enamel, generally affecting one or more permanent teeth in the oral cavity. A case report of 8 year old girl who met with trauma at 2 years of age leading to primary incisors being knocked out, reported after 6 years with complaint of pain and discharge in her anterior malformed teeth is discussed in this article. The permanent incisors erupted with dilacerated crown, root malformations and missing enamel. Further, patient developed sinus, lateral root pathology, tooth mobility and malocclusion in relation to affected teeth which were managed by esthetic, functional, endodontic and surgical procedure. Root canal treatment along with palatal contouring and esthetic restoration by light cure composite was performed on the tooth with crown dilaceration and sinus, where as surgical management was considered for the tooth with root malformation.

  11. Hypoplasia of a permanent incisor produced by primary incisor intrusion: a case report.

    Science.gov (United States)

    Altun, Ceyhan; Esenlik, Elçin; Tözüm, Tolga Fikret

    2009-04-01

    Orofacial trauma is a serious orodental and general health problem that may have medical, esthetic and psychological consequences for children and their parents. When the root of the primary tooth is close to the unerupted permanent tooth, primary tooth trauma may result in developmental disturbances and pulpal reaction in that permanent tooth. We report an unusual case in which injury to the primary dentition resulted in developmental disturbances in the crown and the calcified structures in the pulp chamber of the permanent tooth. Localized malformation of the crown and enamel hypoplasia were treated with a light-cured composite resin restoration. We also discuss the formation of pulp calcification and the need for endodontic treatment.

  12. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

    Science.gov (United States)

    Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

    2014-05-01

    A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog.

  13. Correction of pectus excavatum with breast hypoplasia using simultaneous pectus bar procedure and augmentation mammoplasty.

    Science.gov (United States)

    Park, Hyung Joo; Gu, Ja Hea; Jang, Joon Chul; Dhong, Eun-Sang; Yoon, Eul-Sik

    2014-08-01

    Most women with asymmetric pectus excavatum suffer from hypoplastic breasts. Hence, aesthetic correction of pectus excavatum has to address thoracic wall deformity, breast hypoplasia, and asymmetry.In retrospective series, 21 patients with a diagnosis of pectus excavatum with hypoplastic breasts were corrected using the pectus bar procedure and subpectoral augmentation mammoplasty. Results were assessed by analyzing prospectively collected data and calculating pectus indices from computed tomographic scans. At 12 months postoperatively, cosmetic evaluations were performed by the patients and by an independent, board-certified plastic surgeon using score from 0 (very poor) to 4 (very good).Cosmetic results evaluated by plastic surgeon were good (3.33 ± 0.03) and patient satisfaction was high (3.52 ± 0.03). Furthermore, indices of pectus excavatum were corrected to near normal.The authors consider that the pectus bar procedure with subpectoral augmentation mammoplasty is useful for the aesthetic correction of pectus excavatum with hypoplastic breasts.

  14. The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report.

    Science.gov (United States)

    Akhter, N; Begum, B N; Newaz, M

    2015-07-01

    We report on a 22 years old lady with aplasia of uterus and most of the vagina with normal secondary sexual characteristics, unilateral renal hypoplasia and anomalies of cervico throacic somites (MURCS Association), growth retardation, cardiac defect and congenital urethrovaginal fistula. Although there is a broad spectrum of anomalies described with MURCS association genitourinary fistula is not yet reported and reviewed in published articles. The relevance of this paper is to show the importance of further investigation in cases of primary amenorrhoea with mullerian agenesis to establish that the patient has MURCS association and not simply MRKH (Mayer Rokitansky-Kusterhauser Syndrome) syndrome. Consequently we should provide guidance to the patients and their families about the best way to conduct the case including genetic counseling and family screening.

  15. ODONTOID PROCESS HYPOPLASIA AND BIPARTITE ATLAS ASSOCIATED WITH ATLANTO-AXIAL INSTABILITY

    Directory of Open Access Journals (Sweden)

    Luis Miguel Sousa Marques

    Full Text Available ABSTRACT Surgical treatment of craniocervical junction pathology has evolved considerably in recent years with the implementation of short fixation techniques rather than long occipito-cervical fixation (sub-axial. It is often difficult and sometimes misleading to determine the particular bone and vascular features (high riding vertebral artery, for instance using only the conventional images in three orthogonal planes (axial, sagittal and coronal. The authors describe a rare clinical case of congenital malformation of the craniovertebral junction consisting of hypoplasia/agenesis of the odontoid process and bipartite atlas associated with atlantoaxial instability which was diagnosed late in life in a patient with a previous history of rheumatologic disease. The authors refer to the diagnostic process, including new imaging techniques, and three-dimensional multiplanar reconstruction. The authors also discuss the surgical technique and possible alternatives.

  16. Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males.

    Science.gov (United States)

    Bosma, J F; Henkin, R I; Christiansen, R L; Herdt, J R

    1981-01-01

    Two males, 9-11 and 29-31 years of age, with severe hypoplasia of the nose, hypoplasia of the eyes, sensory abnormalities of taste and smell, and hypogonadism were studied. The nasal septum, cribriform plates and foramina of the vomeronasal (vn) nerves were demonstrated in both; the capsule of the vn organ was shown in one. Their nasal skeleton, demonstrated by tomoradiography, had grown in early embryological form. The nose was not patent in either patient. In both, the cranial vaults, orbits, epipharynges, and oral cavities were indented toward the hypoplastic nasal composite and the peripheral dimensions of their faces were normal for their respective ages. Each patient had impaired visual function with cataracts and colobomata. Each was unable to recognize the smell of any vapor (Type I hyposmia), and had severe impairment of recognition of any tastant (recognition hypogeusia); detection of vapors and of tastants were in appropriate anatomical areas. Each was unable orally to recognize standard plastic forms (astereognosis) though each could recognize the forms manually. Each patient had bilateral inguinal hernias, one or two undescended testes, and hypogonadotrophic hypogonadism. These patients do not fall within the spectrum of arrhinencephaly because of the presence of medial structure of attachment of the falx cerebri and because of their normal intelligence. Distinction of patients with this pattern of abnormalities from arrhinencephaly is important by reason of their potentiality of normal mental development. We hypothesize that their abnormalities resulted from an embryological disruption that occurred in the first trimester of pregnancy. The embryogenesis of the nasal composite is presumed to have been adequate for reciprocal induction of the anlagen of the forebrain. Development of their faces to normal peripheral dimensions indicates that the nasal composite is not essential for gross facial enlargement.

  17. X-linked adrenal hypoplasia congenita: a case report and ethical dilemma.

    Science.gov (United States)

    Ismail, Heba M; Rincon, Marielisa

    2014-07-01

    Our objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency. Case report with literature review. A late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, and hyperkalemia. Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal 17-hydroxyprogesterone level. He was diagnosed with 18-hydroxylase deficiency based on low 18-hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months. At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level. An adrenocorticotropic hormone (ACTH) stimulation test revealed low levels of all adrenal cortex products, with an elevated ACTH level. He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita (AHC). His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to other families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing. We report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Our case raises a question unique to the era of assisted reproduction: should routine genetic screening of gamete donors be done for rare but potentially life-threatening conditions?

  18. [Nasal respiratory stenosis and maxillary hypoplasia. Changes after orthodontic treatment with rapid palatal expansion].

    Science.gov (United States)

    Piccini, A; Giorgetti, R; Fiorelli, G

    1989-01-01

    The relationship between hypoplasia of the upper maxillary bone and nasal respiratory insufficiency in a group of twenty infants with malocclusion being treated by rapid maxillary expansion (RME) were studied. Prior to treatment all patients presented endognatia with discrepancies of from -4 to -7 mm in the transverse basal skeleton. These were often associated with adenoid hypertrophy (70% of the cases), increased total nasal resistance (70%), oral respiration (80%) and middle ear diseases (30%). RME led to resolution of occlusion alterations in all cases and often also brought about a regression in adenoid hypertrophy (57% of the cases), normalization of the total nasal resistance (70%) and respiration (80%). These effects were achieved alone without association with any other form of medical or surgical E.N.T. treatment. The functional results confirmed by the radiological and clinical findings indicate an increase in the diameters of the nasal fossa and in the distance between the canines, between premolars and between molars as well as reduction in adenoid vegetation and in the diffuse hypertrophic tissues lining the naso-pharyngeal space. Nonetheless, hypoplasia of the upper maxillary bone and nasal respiratory insufficiency remain strictly linked and are bound to a variable, and at times uncertain, cause-effect relationship. Is nasal stenosis the moving force of maxillary-mandibular dysmorphism and gnatological dysfunction or does it result from an overall genetic conditioning of facial skeleton development? During their vast experience in adenoid and metadenoid pathologies in infancy the authors have, at times, observed significant maxillo-facial dysmorphisms. They have likewise found that "facies adenoidea" were not always associated with hypertrophy of the pharyngeal tonsil.(ABSTRACT TRUNCATED AT 250 WORDS)

  19. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children

    Energy Technology Data Exchange (ETDEWEB)

    Bruckheimer, Elchanan, E-mail: elchananb@bezeqint.net; Dagan, Tamir [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Atar, Eli; Schwartz, Michael [Schneider Children' s Medical Center Israel, Section of Radiology (Israel); Kachko, Ludmila [Schneider Children' s Medical Center Israel, Section of Anesthesiology (Israel); Superina, Riccardo; Amir, Gabriel [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel); Shapiro, Rivka [Schneider Children' s Medical Center Israel, Section of Gastroenterology (Israel); Birk, Einat [Schneider Children' s Medical Center Israel, Section of Pediatric Cardiology (Israel)

    2013-12-15

    Purpose: Congenital portosystemic shunts (CPSS) with portal venous hypoplasia cause hyperammonemia. Acute shunt closure results in portal hypertension. A transcatheter method of staged shunt reduction to afford growth of portal vessels followed by shunt closure is reported. Methods: Pressure measurements and angiography in the CPSS or superior mesenteric artery (SMA) during temporary occlusion of the shunt were performed. If vessels were diminutive and the pressure was above 18 mmHg, a staged approach was performed, which included implantation of a tailored reducing stent to reduce shunt diameter by {approx}50 %. Recatheterization was performed approximately 3 months later. If the portal pressure was below 18 mmHg and vessels had developed, the shunt was closed with a device. Results: Six patients (5 boys, 1 girl) with a median age of 3.3 (range 0.5-13) years had CPSS portal venous hypoplasia and hyperammonemia. Five patients underwent staged closure. One patient tolerated acute closure. One patient required surgical shunt banding because a reducing stent could not be positioned. At median follow-up of 3.8 (range 2.2-8.4) years, a total of 21 procedures (20 transcatheter, 1 surgical) were performed. In all patients, the shunt was closed with a significant reduction in portal pressure (27.7 {+-} 11.3 to 10.8 {+-} 1.8 mmHg; p = 0.016), significant growth of the portal vessels (0.8 {+-} 0.5 to 4.0 {+-} 2.4 mm; p = 0.037), and normalization of ammonia levels (202.1 {+-} 53.6 to 65.7 {+-} 9.6 {mu}mol/L; p = 0.002) with no complications. Conclusion: Staged CPSS closure is effective in causing portal vessel growth and treating hyperammonemia.

  20. Perceptual Speech Assessment After Anterior Maxillary Distraction in Patients With Cleft Maxillary Hypoplasia.

    Science.gov (United States)

    Richardson, Sunil; Seelan, Nikkie S; Selvaraj, Dhivakar; Khandeparker, Rakshit V; Gnanamony, Sangeetha

    2016-06-01

    To assess speech outcomes after anterior maxillary distraction (AMD) in patients with cleft-related maxillary hypoplasia. Fifty-eight patients at least 10 years old with cleft-related maxillary hypoplasia were included in this study irrespective of gender, type of cleft lip and palate, and amount of required advancement. AMD was carried out in all patients using a tooth-borne palatal distractor by a single oral and maxillofacial surgeon. Perceptual speech assessment was performed by 2 speech language pathologists preoperatively, before placement of the distractor device, and 6 months postoperatively using the scoring system of Perkins et al (Plast Reconstr Surg 116:72, 2005); the system evaluates velopharyngeal insufficiency (VPI), resonance, nasal air emission, articulation errors, and intelligibility. The data obtained were tabulated and subjected to statistical analysis using Wilcoxon signed rank test. A P value less than .05 was considered significant. Eight patients were lost to follow-up. At 6-month follow-up, improvements of 62% (n = 31), 64% (n = 32), 50% (n = 25), 68% (n = 34), and 70% (n = 35) in VPI, resonance, nasal air emission, articulation, and intelligibility, respectively, were observed, with worsening of all parameters in 1 patient (2%). The results for all tested parameters were highly significant (P ≤ .001). AMD offers a substantial improvement in speech for all 5 parameters of perceptual speech assessment. Copyright © 2016 The American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  1. Pesticides re-entry dermal exposure of workers in greenhouses.

    Science.gov (United States)

    Caffarelli, V; Conte, E; Correnti, A; Gatti, R; Musmeci, F; Morali, G; Spagnoli, G; Tranfo, G; Triolo, L; Vita, M; Zappa, G

    2004-01-01

    This research has the aim to evaluate the risk of pesticide dermal exposure for workers in greenhouses. We considered the following crops: tomato, cucumber and strawberry, largely spread in Bracciano lake district. The pesticides monitored were: tetradifon on strawberry: metalaxyl, azoxystrobin and fenarimol on cucumber; acrinathrin, azoxystrobin and chlorpyrifos ethyl on tomato. The dermal exposure was evaluated by Dislodgeable Foliar Residue (DFR) measurements employing transfer coefficients got from literature. For risk evaluation, we have compared the dermal exposures with Acceptable Operator Exposure Levels (AOEL). The re-entry time were obtained intercepting the dose decay curves with AOEL values. The re-entry times result higher than two days in the cases of chlorpyrifos on tomato (re-entry time: 3 days), azoxystrobin on tomato (4 days), and tetradifon on strawberry (8 days). The need of measuring specific transfer coefficients is pointed out.

  2. Proliferation kinetics of the dermal infiltrate in cutaneous malignant lymphomas

    Energy Technology Data Exchange (ETDEWEB)

    Sterry, W.; Pullmann, H.; Steigleder, G.K.

    1981-01-01

    To obtain information about the role of local proliferation in the pathogenesis of dermal infiltrate in malignant cutaneous lymphomas, we determined the percentage of /sup 3/H-thymidine-labeled infiltrating cells (/sup 3/H-index). A linear correlation was found between proliferative activity and clinical stage in mycosis fungoides, i.e., the /sup 3/H-index is moderately elevated in stage I and high in stage III. The /sup 3/H-index is within normal range in dermal infiltrate of Sezary syndrome, diffuse lymphocytic lymphoma, as well as in lymphocytoma benigna cutis. In parapsoriasis en plaques two groups can be distinguished: in the small plaque variant (chronic superficial dermatitis) the /sup 3/H-index is low, whereas the large-plaque variant (prereticulotic poikiloderma) shows strong proliferative activity. Thus, determination of proliferative activity seems to give new insights into the pathogenesis of dermal infiltrate in cutaneous lymphomas.

  3. Dermal Exposure during Filling, Loading and Brushing with Products Containing 2-(2-Butoxyethoxy)ethanol

    NARCIS (Netherlands)

    Gijsbers, J.H.J.; Tielemans, E.; Brouwer, D.H.; Hemmen, J.J. van

    2004-01-01

    Introduction: Limited quantitative information is available on dermal exposure to chemicals during various industrial activities. Therefore, within the scope of the EU-funded RISKOFDERM project, potential dermal exposure was measured during three different tasks: filling, loading and brushing. DEGBE

  4. Successful breast reconstruction using acellular dermal matrix can be recommended in healthy non-smoking patients

    DEFF Research Database (Denmark)

    Gunnarsson, Gudjon Leifur; Børsen-Koch, Mikkel; Arffmann, Susanne

    2013-01-01

    We present Scandinavia's first series of immediate alloplastic breast reconstructions with an acellular dermal matrix.......We present Scandinavia's first series of immediate alloplastic breast reconstructions with an acellular dermal matrix....

  5. [Exploratory study on the micro-remodeling of dermal tissue].

    Science.gov (United States)

    Jiang, Yu-zhi; Ding, Gui-fu; Lu, Shu-liang

    2009-10-01

    To explore the effect of three-dimensional structure of dermal matrix on biological behavior of fibroblasts (Fb) in the microcosmic perspective. The three-dimensional structure of dermal tissue was analyzed by plane geometric and trigonometric function. Microdots structure array with cell adhesion effect was designed by computer-assisted design software according to the adhesive and non-adhesive components of dermal tissue. Four sizes (8 microm x 3 microm, space 6 microm; 16 microm x 3 microm, space 6 microm; 16 microm x 5 microm, space 8 microm; 20 microm x 3 microm, space 2 microm) of micropier grid used for cell culture (MPGCC) with cell-adhesive microdots, built up with micro-pattern printing and molecule self-assembly method were used to culture dermal Fb. Fb cultured with cell culture matrix without micropier grid was set up as control. The expression of skeleton protein (alpha-SMA) of Fb, cell viability and cell secretion were detected with immunohistochemistry, fluorescent immunohistochemistry, MTT test and the hydroxyproline content assay. The three-dimensional structure of dermal tissue could be simulated by MPGCC as shown in arithmetic analysis. Compared with those of control group [(12 +/- 3)% and (0.53 +/- 0.03) microg/mg, (0.35 +/- 0.04)], the expression of alpha-SMA [(49 +/- 3)%, (61 +/- 3)%, (47 +/- 4)%, (51 +/- 3)%] and the content of hydroxyproline [(0.95 +/- 0.04), (0.87 +/- 0.03), (0.81 +/- 0.03), (0.77 +/- 0.03) microg/mg] were increased significantly (P cell viability of Fb (0.12 +/- 0.03, 0.13 +/- 0.04, 0.14 +/- 0.03, 0.19 +/- 0.03) cultured in MPGCC was decreased significantly (P cell viability and the content of hydroxyproline of Fb cultured in four sizes of MPGCC were also significantly changed as compared with one another (P < 0.05). MPGCC may be the basic functional unit of dermal template, or unit of dermal template to call. Different three-dimensional circumstances for dermal tissue can result in different template effect and wound

  6. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    NARCIS (Netherlands)

    Maas, S.M.; Lombardi, P.M.; van Essen, A.J.; Wakeling, E.L.; Castle, B.; Temple, I.K.; Kumar, V.K.A.; Writzl, K.; Hennekam, R.C.M.

    2009-01-01

    Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. Method: A series of 17 patients with Goltz-G

  7. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

    NARCIS (Netherlands)

    Maas, S. M.; Lombardi, M. P.; van Essen, A. J.; Wakeling, E. L.; Castle, B.; Temple, I. K.; Kumar, V. K. A.; Writzl, K.; Hennekam, Raoul C. M.

    2009-01-01

    Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. Method: A series of 17 patients with Goltz-G

  8. Treatment of severe maxillary cleft hypoplasia in a case with missing premaxilla with anterior maxillary distraction using tooth-borne hyrax appliance

    Directory of Open Access Journals (Sweden)

    Akshai Shetty

    2015-01-01

    Full Text Available Cleft orthodontics generally poses a challenge and a missing premaxilla adds to the difficulty in managing them. The lack of bone support and anterior teeth in a case with missing premaxilla accounts not only for difficulty in rehabilitation but also in increasing the maxillary hypoplasia. This article presents a case report where planned orthodontic and surgical management using distraction has helped treat a severe maxillary hypoplasia in a patient with missing premaxilla. The treatment plan and method can be used to treat severe maxillary hypoplasia and yield reasonably acceptable results for such patients.

  9. File list: InP.Epd.10.AllAg.Dermal_fibroblast [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available InP.Epd.10.AllAg.Dermal_fibroblast hg19 Input control Epidermis Dermal fibroblast S...,SRX447386,SRX666594,SRX447389,SRX200051,SRX864096,SRX200053 http://dbarchive.biosciencedbc.jp/kyushu-u/hg19/assembled/InP.Epd.10.AllAg.Dermal_fibroblast.bed ...

  10. File list: NoD.Epd.05.AllAg.Dermal_fibroblasts [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available NoD.Epd.05.AllAg.Dermal_fibroblasts mm9 No description Epidermis Dermal fibroblasts... http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/NoD.Epd.05.AllAg.Dermal_fibroblasts.bed ...

  11. File list: ALL.Epd.20.AllAg.Dermal_fibroblasts [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available ALL.Epd.20.AllAg.Dermal_fibroblasts mm9 All antigens Epidermis Dermal fibroblasts S...26,SRX310225,SRX310224,SRX388187 http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/ALL.Epd.20.AllAg.Dermal_fibroblasts.bed ...

  12. File list: InP.Epd.50.AllAg.Dermal_fibroblast [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available InP.Epd.50.AllAg.Dermal_fibroblast hg19 Input control Epidermis Dermal fibroblast S...,SRX200045,SRX864096,SRX200053,SRX200051,SRX447389,SRX447386 http://dbarchive.biosciencedbc.jp/kyushu-u/hg19/assembled/InP.Epd.50.AllAg.Dermal_fibroblast.bed ...

  13. File list: Oth.Epd.20.AllAg.Dermal_fibroblasts [Chip-atlas[Archive

    Lifescience Database Archive (English)

    Full Text Available Oth.Epd.20.AllAg.Dermal_fibroblasts mm9 TFs and others Epidermis Dermal fibroblasts... SRX247302,SRX382120,SRX247301,SRX247303,SRX382119,SRX310229,SRX310227,SRX310225 http://dbarchive.biosciencedbc.jp/kyushu-u/mm9/assembled/Oth.Epd.20.AllAg.Dermal_fibroblasts.bed ...

  14. Validation of the dermal exposure model in ECETOC TRA.

    Science.gov (United States)

    Marquart, Hans; Franken, Remy; Goede, Henk; Fransman, Wouter; Schinkel, Jody

    2017-08-01

    The ECETOC TRA model (presently version 3.1) is often used to estimate worker inhalation and dermal exposure in regulatory risk assessment. The dermal model in ECETOC TRA has not yet been validated by comparison with independent measured exposure levels. This was the goal of the present study. Measured exposure levels and relevant contextual information were gathered via literature search, websites of relevant occupational health institutes and direct requests for data to industry. Exposure data were clustered in so-called exposure cases, which are sets of data from one data source that are expected to have the same values for input parameters in the ECETOC TRA dermal exposure model. For each exposure case, the 75th percentile of measured values was calculated, because the model intends to estimate these values. The input values for the parameters in ECETOC TRA were assigned by an expert elicitation and consensus building process, based on descriptions of relevant contextual information.From more than 35 data sources, 106 useful exposure cases were derived, that were used for direct comparison with the model estimates. The exposure cases covered a large part of the ECETOC TRA dermal exposure model. The model explained 37% of the variance in the 75th percentiles of measured values. In around 80% of the exposure cases, the model estimate was higher than the 75th percentile of measured values. In the remaining exposure cases, the model estimate may not be sufficiently conservative.The model was shown to have a clear bias towards (severe) overestimation of dermal exposure at low measured exposure values, while all cases of apparent underestimation by the ECETOC TRA dermal exposure model occurred at high measured exposure values. This can be partly explained by a built-in bias in the effect of concentration of substance in product used, duration of exposure and the use of protective gloves in the model. The effect of protective gloves was calculated to be on average a

  15. Large Format Uncooled Focal Plane Array Project

    Data.gov (United States)

    National Aeronautics and Space Administration — Uncooled focal plane arrays have improved dramatically and array sizes of 320x240 elements in a 50-?m pitch are commercially available at affordable cost. Black...

  16. Focal skin defect, limb anomalies and microphthalmia.

    NARCIS (Netherlands)

    Jackson, K.E.; Andersson, H.C.

    2004-01-01

    We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and

  17. Dermal Lipogenesis Inhibits Adiponectin Production in Human Dermal Fibroblasts while Exogenous Adiponectin Administration Prevents against UVA-Induced Dermal Matrix Degradation in Human Skin.

    Science.gov (United States)

    Fang, Chien-Liang; Huang, Ling-Hung; Tsai, Hung-Yueh; Chang, Hsin-I

    2016-07-14

    Adiponectin is one of the most abundant adipokines from the subcutaneous fat, and regulates multiple activities through endocrine, paracrine, or autocrine mechanisms. However, its expression in adipogenic induced fibroblasts, and the potential role in photoaging has not been determined. Here, human dermal fibroblasts, Hs68, were presented as a cell model of dermal lipogenesis through stimulation of adipogenic differentiation medium (ADM). Similar to other studies in murine pre-adipocyte models (i.e., 3T3-L1), Hs68 fibroblasts showed a tendency to lipogenesis based on lipid accumulation, triglyceride formation, and the expressions of PPAR-γ, lipoprotein lipase (LPL), and FABP4 mRNA. As expected, ADM-treated fibroblasts displayed a reduction on adiponectin expression. Next, we emphasized the photoprotective effects of adiponectin against UVA-induced damage in Hs68 fibroblasts. UVA radiation can downregulate cell adhesion strength and elastic modulus of Hs68 fibroblasts. Moreover, UVA radiation could induce the mRNA expressions of epidermal growth factor receptor (EGFR), adiponectin receptor 1 (AdipoR1), matrix metalloproteinase-1 (MMP-1), MMP-3, and cyclooxygenase-2 (COX-2), but downregulate the mRNA expressions of type I and type III collagen. On the other hand, post-treatment of adiponectin can partially overcome UVA-induced reduction in the cell adhesion strength of Hs68 fibroblasts through the activation of AdipoR1 and the suppression of EGF-R. In addition, post-treatment of adiponectin indicated the increase of type III collagen and elastin mRNA expression and the decrease of MMP-1 and MMP-3 mRNA expression, but a limited degree of recovery of elastic modulus on UVA-irradiated Hs68 fibroblasts. Overall, these results suggest that dermal lipogenesis may inhibit the expression of adiponectin while exogenous adiponectin administration prevents against UVA-induced dermal matrix degradation in Hs68 fibroblasts.

  18. Snake beam: a paraxial arbitrary focal line

    OpenAIRE

    Rosen, Joseph; Yariv, Amnon

    1995-01-01

    The creation of paraxial arbitrary focal lines by a Fourier computer-generated hologram is demonstrated. The desired focal line is represented by a series of connected straight line segments, each of which is implemented by a radial harmonic function located on a different radial portion of the entire hologram. Each subhologram is multiplied by appropriate linear and quadratic phase functions and is shifted by some distance from the center. The two phase factors determine the location of each...

  19. An uncommon focal epithelial hyperplasia manifestation.

    Science.gov (United States)

    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.

  20. Review of dermal effects and uptake of petroleum hydrocarbons

    Energy Technology Data Exchange (ETDEWEB)

    Kezic, S.; Kruse, J. [Coronel Institute of Occupational Health, Academic Medical Center, University of Amsterdam, Amsterdam (Netherlands); Jakasa, I. [University of Zagreb, Zagreb (Croatia)

    2010-12-15

    This report serves as an update to and an extension of a previous CONCAWE report on dermal absorption of petroleum hydrocarbons (Petroleum hydrocarbons: their absorption through and effects on the skin, CONCAWE Report 84/54, 1984). To contribute to health risk assessments associated with dermal exposure, this report evaluates experimental data to determine the extent to which petroleum hydrocarbons pass through the skin. These data strongly suggest that dermal exposure to petroleum hydrocarbons, even following long-term exposures such as in occupational settings, will not cause systemic toxicity under normal working conditions and assuming an intact skin barrier. Skin contact with some petroleum products may cause skin irritation, leading to dermatitis, particularly after repeated or prolonged exposure. In addition to these irritating effects, the skin barrier function may be affected following repeated contact with petroleum hydrocarbons, making the skin potentially more susceptible to other irritants, sensitizing agents, and bacteria. In addition, the impaired skin barrier may lead to increased dermal penetration of hydrocarbons and other substances. To avoid this there is a need to minimise skin contact.

  1. Task-based dermal exposure models for regulatory risk assessment

    NARCIS (Netherlands)

    Warren, N.D.; Marquart, H.; Christopher, Y.; Laitinen, J.; Hemmen, J.J. van

    2006-01-01

    The regulatory risk assessment of chemicals requires the estimation of occupational dermal exposure. Until recently, the models used were either based on limited data or were specific to a particular class of chemical or application. The EU project RISKOFDERM has gathered a considerable number of ne

  2. Crosslinking of dermal sheep collagen using hexamethylene diisocyanate

    NARCIS (Netherlands)

    Olde Damink, L.H.H.; Dijkstra, P.J.; Luyn, van M.J.A.; Wachem, van P.B.; Nieuwenhuis, P.; Feijen, J.

    1995-01-01

    The use of hexamethylene diisocyanate (HMDIC) as a crosslinking agent for dermal sheep collagen (DSC) was studied. Because HMDIC is only slightly water soluble, a surfactant was used to obtain a clear and micellar crosslinking solution and to promote the penetration of HMDIC in the DSC matrix. Using

  3. Differential Apoptosis in Mucosal and Dermal Wound Healing

    Science.gov (United States)

    Johnson, Ariel; Francis, Marybeth; DiPietro, Luisa Ann

    2014-01-01

    Objectives: Dermal and mucosal healing are mechanistically similar. However, scarring and closure rates are dramatically improved in mucosal healing, possibly due to differences in apoptosis. Apoptosis, nature's preprogrammed form of cell death, occurs via two major pathways, extrinsic and intrinsic, which intersect at caspase3 (Casp3) cleavage and activation. The purpose of this experiment was to identify the predominant pathways of apoptosis in mucosal and dermal wound healing. Approach: Wounds (1 mm biopsy punch) were made in the dorsal skin (n=3) or tongue (n=3) of female Balb/C mice aged 6 weeks. Wounds were harvested at 6 h, 24 h, day 3 (D3), D5, D7, and D10. RNA was isolated and analyzed using real time reverse transcriptase–polymerase chain reaction. Expression levels for genes in the intrinsic and extrinsic apoptotic pathways were compared in dermal and mucosal wounds. Results: Compared to mucosal healing, dermal wounds exhibited significantly higher expression of Casp3 (at D5; pwound healing compared to skin. Conclusion: Expression patterns of key regulators of apoptosis in wound healing indicate that apoptosis occurs predominantly through the intrinsic pathway in the healing mucosa, but predominantly through the extrinsic pathway in the healing skin. The identification of differences in the apoptotic pathways in skin and mucosal wounds may allow the development of therapeutics to improve skin healing. PMID:25493209

  4. Dermal Uptake of Organic Vapors Commonly Found in Indoor Air

    DEFF Research Database (Denmark)

    Weschler, Charles J.; Nazaroff, William W

    2014-01-01

    . In this group are common parabens, lower molecular weight phthalates, o-phenylphenol, Texanol, ethylene glycol, and α-terpineol. For other compounds, estimated dermal uptakes are small compared to inhalation. Examples include aliphatic hydrocarbons, single ring aromatics, terpenes, chlorinated solvents...

  5. CROSS-LINKING OF DERMAL SHEEP COLLAGEN USING HEXAMETHYLENE DIISOCYANATE

    NARCIS (Netherlands)

    DAMINK, LHHO; DIJKSTRA, PJ; VANLUYN, MJA; VANWACHEM, PB; NIEUWENHUIS, P; FEIJEN, J

    1995-01-01

    The use of hexamethylene diisocyanate (HMDIC) as a crosslinking agent for dermal sheep collagen (DSC) was studied. Because HMDIC is on ly slightly water soluble, a surfactant was used to obtain a clear and micellar crosslinking solution and to promote the penetration of HMDIC in the DSC matrix. Usin

  6. The Effect of Gynostemma pentaphyllum Extract on Mouse Dermal Fibroblasts.

    Science.gov (United States)

    Lobo, Sara Nadia; Qi, Yu Qing; Liu, Quan Zhong

    2014-01-01

    Background. The objective of this paper is to demonstrate the effect of Gynostemma pentaphyllum extract on mouse dermal fibroblasts. Recent studies have shown that this plant may possess great antioxidant properties, which can be very beneficial in combating oxidative stress. Methods. Gynostemma pentaphyllum extract was prepared and mouse dermal fibroblasts were obtained and cultured as per our laboratory protocols. Twelve samples of cells were cultured under the same conditions and both negative and positive controls were established. Induction of oxidative stress was carried out using ultraviolet C (UVC) light. Viable cell count was carried out, using microscopy. The analysis of the overall results was processed using SPSS version 16.0. Results. Statistical analysis showed strong positive correlation between the concentration of Gynostemma pentaphyllum and the mean duration of cell viability (rs = 1), with a high level of statistical significance (P Gynostemma pentaphyllum extract prolongs viability of mouse dermal fibroblasts damaged by UVC light-induced oxidative stress. The results show the potential benefits of this extract on dermal cell aging.

  7. PULMONARY HYPERRESPONSIVENESS FOLLOWING DERMAL EXPOSURE TO SELECTED DIISOCYANATES

    Science.gov (United States)

    PULMONARY HYPERRESPONSIVENESS FOLLOWING DERMAL EXPOSURE TO SELECTED DIISOCYANATESM.J.K. Selgrade, E.H. Boykin, N.H. Coates, D.L. Doerfler, S.H. GavettExperimental Toxicology Div., National Health and Environmental Research Laboratory, Office of Research and Developmen...

  8. Cerebellair abces door een occipitale dermale sinus bij een zuigeling

    NARCIS (Netherlands)

    Groen, R J; van Ouwerkerk, W J

    1994-01-01

    A 7.5-month-old girl was admitted with the clinical signs and symptoms of raised intracranial pressure. This was caused by an obstructive hydrocephalus, due to cerebellar abscesses induced by an infected contiguous complete occipital dermal sinus. Staphylococcus aureus was cultured. The patient was

  9. Task-based dermal exposure models for regulatory risk assessment

    NARCIS (Netherlands)

    Warren, N.D.; Marquart, H.; Christopher, Y.; Laitinen, J.; Hemmen, J.J. van

    2006-01-01

    The regulatory risk assessment of chemicals requires the estimation of occupational dermal exposure. Until recently, the models used were either based on limited data or were specific to a particular class of chemical or application. The EU project RISKOFDERM has gathered a considerable number of

  10. In vivo dermal absorption of pyrethroid pesticides in the rat.

    Science.gov (United States)

    The potential for exposure to pyrethroid pesticides has risen recently because of their increased use. The objective of this study was to examine the in vivo dermal absorption of bifenthrin, deltamethrin and permethrin in the rat. Hair on the dorsal side of anesthetized adult m...

  11. Novel System for Testing Dermal and Epidermal Toxicity in Vitro

    Science.gov (United States)

    1990-02-15

    months of this contract, we have been successful at establishing primary culture from 20 neonatal foreskin samples (from routine circumcisions ) and 6...objectives: 1. Established an inventory of neonatal and adult keratinocytes and fibroblasts. Modified the procedure for establishing and passing these...thymidine incorporation into adherent cell populations. Substrates utilized included neonatal fibroblast dermal equivalents (from foreskin) and adult

  12. 40 CFR 799.9120 - TSCA acute dermal toxicity.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 31 2010-07-01 2010-07-01 true TSCA acute dermal toxicity. 799.9120 Section 799.9120 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC SUBSTANCES...) Preparations. Healthy young adult animals are acclimatized to the laboratory conditions for at least 5...

  13. Defense against dermal exposures is only skin deep

    DEFF Research Database (Denmark)

    Nielsen, Jesper Bo; Nielsen, Flemming; Sørensen, Jens Ahm

    2007-01-01

    substances (glyphosat, caffeine, benzoic acid, malathion) covering a range of solubilities. Further, we studied the extent to which a slightly damaged skin would change the rate, the amount absorbed during dermal exposure and the distribution of chemical deposition between epidermis and dermis. The present...

  14. Inhalation and dermal exposure among asphalt paving workers.

    Science.gov (United States)

    McClean, M D; Rinehart, R D; Ngo, L; Eisen, E A; Kelsey, K T; Herrick, R F

    2004-11-01

    The primary objective of this study was to identify determinants of inhalation and dermal exposure to polycyclic aromatic compounds (PACs) among asphalt paving workers. The study population included three groups of highway construction workers: 20 asphalt paving workers, as well as 12 millers and 6 roadside construction workers who did not work with hot-mix asphalt. During multiple consecutive work shifts, personal air samples were collected from each worker's breathing zone using a Teflon filter and cassette holder connected in series with an XAD-2 sorbent tube, while dermal patch samples were collected from the underside of each worker's wrist. All exposure samples were analyzed for PACs, pyrene and benzo[a]pyrene. Inhalation and dermal PAC exposures were highest among asphalt paving workers. Among paving workers, inhalation and dermal PAC exposures varied significantly by task, crew, recycled asphalt product (RAP) and work rate (inhalation only). Asphalt mix containing high RAP was associated with a 5-fold increase in inhalation PAC exposures and a 2-fold increase in dermal PAC exposure, compared with low RAP mix. The inhalation PAC exposures were consistent with the workers' proximity to the primary source of asphalt fume (paver operators > screedmen > rakers > roller operators), such that the adjusted mean exposures among paver operators (5.0 microg/m3, low RAP; 24 microg/m3, high RAP) were 12 times higher than among roller operators (0.4 microg/m3, low RAP; 2.0 microg/m3, high RAP). The dermal PAC exposures were consistent with the degree to which the workers have actual contact with asphalt-contaminated surfaces (rakers > screedmen > paver operators > roller operators), such that the adjusted mean exposures among rakers (175 ng/cm2, low RAP; 417 ng/cm2, high RAP) were approximately 6 times higher than among roller operators (27 ng/cm2, low RAP; 65 ng/cm2, high RAP). Paving task, RAP content and crew were also found to be significant determinants of

  15. Dermal exposure and urinary 1-hydroxypyrene among asphalt roofing workers.

    Science.gov (United States)

    McClean, M D; Rinehart, R D; Sapkota, A; Cavallari, J M; Herrick, R F

    2007-01-01

    The primary objective of this study was to identify significant determinants of dermal exposure to polycyclic aromatic compounds (PACs) among asphalt roofing workers and use urinary 1-hydroxyprene (1-OHP) measurements to evaluate the effect of dermal exposure on total absorbed dose. The study population included 26 asphalt roofing workers who performed three primary tasks: tearing off old roofs (tear-off), putting down new roofs (put-down), and operating the kettle at ground level (kettle). During multiple consecutive work shifts (90 workerdays), dermal patch samples were collected from the underside of each worker's wrists and were analyzed for PACs, pyrene, and benzo(a)pyrene (BAP). During the same work week, urine samples were collected at pre-shift, post-shift, and bedtime each day and were analyzed for 1-OHP (205 urine samples). Linear mixed effects models were used to evaluate the dermal measurements for the purpose of identifying important determinants of exposure, and to evaluate urinary 1-OHP measurements for the purpose of identifying important determinants of total absorbed dose. Dermal exposures to PAC, pyrene, and BAP were found to vary significantly by roofing task (tear-off > put-down > kettle) and by the presence of an old coal tar pitch roof (pitch > no pitch). For each of the three analytes, the adjusted mean dermal exposures associated with tear-off (812 ng PAC/cm2, 14.9 ng pyrene/cm2, 4.5 ng BAP/cm2) were approximately four times higher than exposures associated with operating the kettle (181 ng PAC/cm2, 4.1 ng pyrene/cm2, 1.1 ng BAP/cm2). Exposure to coal tar pitch was associated with a 6-fold increase in PAC exposure (p = 0.0005), an 8-fold increase in pyrene exposure (p pitch roof was removed, accounting for a 3.7-fold difference at pre-shift (p = 0.01), a 5.0-fold difference at post-shift (p = 0.004), and a 7.2-fold difference at bedtime (p = 0.002). The pyrene measurements obtained during the work shift were found to be strongly correlated

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

    Science.gov (United States)

    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.

  17. MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation

    Directory of Open Access Journals (Sweden)

    Rashid Saleem

    2013-01-01

    Full Text Available MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.

  18. Prevalence of dental anomalies and enamel hypoplasia in primary dentition among preschool children of West Godavari District, Andhra Pradesh -A cross - sectional study

    Directory of Open Access Journals (Sweden)

    Suzan Sahana

    2013-01-01

    Full Text Available Background: It is axiomatic that Pediatric dental anomalies and enamel hypoplasia (E.H are routinely encountered in primary dentition and early detection and prudent management of the condition facilitates normal occlusal development. Objectives: To determine the prevalence of various dental anomalies and enamel hypoplasia in preschool children between two to six years of age. Materials & Method: A total of 1898 children, between two to six years were randomly selected and screened for dental anomalies and enamel hypoplasia The chi square test was used to analyze the data statistically. Results: The overall prevalence rate of dental anomalies and enamel hypoplasia in this study was 0.63% and 8.95% respectively. Double teeth were the most frequently reported dental anomaly while supernumerary teeth were least reported. None of them reported with hypodontia.

  19. Enhanced dermal delivery of acyclovir using solid lipid nanoparticles.

    Science.gov (United States)

    Jain, Sanyog; Mistry, Meghal A; Swarnakar, Nitin K

    2011-10-01

    The present investigation was enthused by the possibility to develop solid lipid nanoparticles (SLNs) of hydrophilic drug acyclovir (ACV) and evaluate their potential as the carrier for dermal delivery. ACV-loaded SLNs (ACV-SLNs) were prepared by the optimized double emulsion process using Compritol 888 ATO as solid lipid. The prepared SLNs were smooth and spherical in shape with average diameter, polydispersity index, and entrapment efficiency of 262 ± 13 nm, 0.280 ± 0.01, and 40.08 ± 4.39% at 10% (w/w) theoretical drug loading with respect to Compritol 888 ATO content. Differential scanning calorimetry and powder X-ray diffraction pattern revealed that ACV was present in the amorphous state inside the SLNs. In vitro skin permeation studies on human cadaver and Sprague-Dawley rat skin revealed 17.65 and 15.17 times higher accumulation of ACV-SLNs in the dermal tissues in comparison to commercially available ACV cream after 24 h. Mechanism of topical permeation and dermal distribution was studied qualitatively using confocal laser scanning microscopy. While free dye (calcein) failed to penetrate skin barrier, the same encapsulated in SLNs penetrated deeply into the dermal tissue suggesting that pilosebaceous route was followed by SLNs for skin penetration. Histological examination and transdermal epidermal water loss measurement suggested that no major morphological changes occurred on rat skin surface due to the application of SLNs. Overall, it was concluded that ACV-loaded SLNs might be beneficial in improving dermal delivery of antiviral agent(s) for the treatment of topical herpes simplex infection.

  20. Applications of acellular dermal matrix in revision breast reconstruction surgery.

    Science.gov (United States)

    Spear, Scott L; Sher, Sarah R; Al-Attar, Ali; Pittman, Troy

    2014-01-01

    Acellular dermal matrix has been used for over a decade in primary breast reconstruction. Few articles have specifically examined its use in revision breast reconstruction for fold malposition, capsular contracture, rippling, and symmastia. One hundred thirty-five revision breast reconstructive procedures using acellular dermal matrix (AlloDerm) in 118 patients (154 breasts) over a 5-year period were reviewed. Most procedures were revisions or part of the second stage of previous mastectomy reconstructions; three were revisions after reconstruction of congenital chest wall deformities. Fifty-seven revisions (37 percent) were for inferior fold malposition, followed by 40 (25.9 percent) for inferior pole support, 42 (27.2 percent) for capsular contracture, 10 (6.4 percent) for rippling, and five (3.2 percent) for symmastia. The overall complication rate was 5 percent. Revisions with acellular dermal matrix were successful in 147 of 154 breasts (95.5 percent). The most common complication was capsular contracture, occurring in five breasts (3.2 percent). There was one infection (0.6 percent), failure to lower the inframammary fold in one breast (0.6 percent), and one persistence of rippling (0.6 percent). The mean follow-up was 207 days. Acellular dermal matrix has proven to be a reliable tool for managing some of the most common and challenging problems in implant-based breast reconstruction. Although there are few published data on the success of more conventional solutions to fold malposition, lower pole support, and capsular contracture, the addition of acellular dermal matrix to buttress these repairs has been shown to provide a high likelihood of success with a low risk of complications.

  1. Optic nerve head analysis of superior segmental optic hypoplasia using Heidelberg retina tomography

    Directory of Open Access Journals (Sweden)

    Atsushi Miki

    2010-10-01

    Full Text Available Atsushi Miki1,2, Motohiro Shirakashi1, Kiyoshi Yaoeda1, Atsushi Fukushima1, Mineo Takagi1, Haruki Abe11Division of Ophthalmology and Visual Sciences, Niigata University Graduate School of Medical and Dental Sciences, Niigata, 2Department of Ophthalmology, Kawasaki Medical School, Okayama, JapanPurpose: To evaluate the optic disc characteristics of eyes with superior segmental optic hypoplasia (SSOH using the Heidelberg retina tomograph (HRT.Patients and methods: Thirteen eyes of 13 Japanese patients with SSOH were studied with the HRT (software version: 3.0. The group included six males and seven females, with a mean age of 34.7 years. Six optic disc parameters in the six sectors derived from the patients with SSOH were compared with those of 13 eyes of 13 normal controls. In addition, the diagnostic classification performance of the Frederick S Mikelberg (FSM discriminant function, glaucoma probability score (GPS, and Moorfields regression analysis (MRA were assessed.Results: When compared with normal subjects, many of the optic disc parameters were significantly altered in SSOH in the superior sectors. The area under the curve (AUC for the receiver operating characteristic was 0.932 for the rim area, 0.926 for the cup-to-disc area ratio, and 0.882 for the cup shape measure. Among the HRT parameters, the largest AUC (0.988 was found for the cup shape measure in the nasal superior segment. The proportion classified as outside normal limits by the FSM discriminant function was 92.3% (12 eyes. For GPS, six eyes (46.2% were classified as outside normal limits. For MRA, when borderline cases were considered test-negative or test-positive, 10 eyes (76.9% or 11 eyes (84.6% were classified as outside normal limits, respectively. The AUCs were 0.976 for the FSM discriminant function, 0.914 for the MRA overall classification, and 0.710 for the GPS overall classification.Conclusions: In eyes with SSOH, there is a significant thinning of the rim

  2. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi.

    Science.gov (United States)

    Oguz, Berna; Alan, Serdar; Ozcelik, Ugur; Haliloglu, Mithat

    2009-09-01

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study.

  3. Horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of upper lobe bronchi

    Energy Technology Data Exchange (ETDEWEB)

    Oguz, Berna; Haliloglu, Mithat [Hacettepe University Faculty of Medicine, Department of Radiology, Ankara (Turkey); Alan, Serdar; Ozcelik, Ugur [Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara (Turkey)

    2009-09-15

    Horseshoe lung, a rare congenital anomaly, is almost always associated with unilateral (usually right-sided) lung hypoplasia, and, in most cases, in conjunction with the scimitar syndrome. We present an 8-month-old boy with horseshoe lung associated with left-lung hypoplasia, left pulmonary artery sling and bilateral agenesis of the upper lobe bronchi, diagnosed by multidetector CT (MDCT) imaging. The study also revealed an anomalous origin of the left vertebral artery as the last branch of the aortic arch, distal to the left subclavian artery, and an anomalous origin of the left common carotid artery from the brachiocephalic trunk. A hemivertebral anomaly of the seventh cervical vertebra was incidentally detected. MDCT with high-quality multiplanar and three-dimensional reconstructions is a noninvasive and rapid technique for detecting the complex combination of vascular, tracheobronchial and parenchymal anomalies, and any potential bone anomalies, in one imaging study. (orig.)

  4. Esthetic and endosurgical management of turner′s hypoplasia; a sequlae of trauma to developing tooth germ

    OpenAIRE

    Bhushan B; Garg S; Sharma D.; Jain M

    2008-01-01

    Turner′s hypoplasia usually manifests as a portion of missing or diminished enamel, generally affecting one or more permanent teeth in the oral cavity. A case report of 8 year old girl who met with trauma at 2 years of age leading to primary incisors being knocked out, reported after 6 years with complaint of pain and discharge in her anterior malformed teeth is discussed in this article. The permanent incisors erupted with dilacerated crown, root malformations and missing enamel. Furt...

  5. CT volumetry of lumbar vertebral bodies in patients with hypoplasia L5 and bilateral spondylolysis and in normal controls

    Energy Technology Data Exchange (ETDEWEB)

    Wilms, Guido E.; Demaerel, Philippe; Keyzer, Frederik de [UZ Leuven, Campus Gasthuisberg, Department of Radiology, Leuven (Belgium); Willems, Endry [ZOL, Department of Radiology, Genk (Belgium)

    2012-08-15

    To examine the feasibility and results of calculating the volume of lumbar vertebral bodies in normal patients and patients with suspected hypoplasia of L5. Lumbar multi-detector CT was performed in 38 patients with bilateral spondylolysis and hypoplasia of L5 and in 38 normal patients. Lumbar vertebral body volume of L3, L4 and L5 was measured by CT volumetry with a semi-automated program, created with MeVisLab. In the control group, the average vertebral body volume (in cubic centimeters) of L3 was 35.93 ({+-}7.33), 36.34 ({+-}7.13) for L4 and 34.63 ({+-}6.88) for L5. In patients with suspected hypoplasia L5 the average body volume (in cubic centimeters) of L3 was 36.85 ({+-}7.37), 36.90 ({+-}6.99) for L4 and 33.14 ({+-}6.57) for L5. The difference in mean vertebral body volume for L3, L4 and L5 between both groups was statistically not significant. However, there was a statistically significant difference of the ratio L5/L4 (P < 0.001) between both groups: the mean ratio L5/L4 in the control group was 95.3 {+-} 3.9%, the ratio for the hypoplastic L5 group was 89.9 {+-} 6.3%. There was no significant difference in the vertebral body volume for L3, L4 and L5 between both groups due to inter-patient variability. However, the relation between the body volume of L5 and L4 is significantly different between both groups. The volume of the vertebral body of L5 proved to be on average 10.2% smaller than the volume of L4 in the group with hypoplasia L5 versus 4.7% in the control group. (orig.)

  6. "Focal thyroid inferno" on color Doppler ultrasonography: a specific feature of focal Hashimoto's thyroiditis.

    Science.gov (United States)

    Fu, Xianshui; Guo, Limei; Zhang, Huabin; Ran, Weiqiang; Fu, Peng; Li, Zhiqiang; Chen, Wen; Jiang, Ling; Wang, Jinrui; Jia, Jianwen

    2012-11-01

    To evaluate color-Doppler features predictive of focal Hashimoto's thyroiditis. A total of 521 patients with 561 thyroid nodules that underwent surgeries or gun biopsies were included in this study. These nodules were divided into three groups: focal Hashimoto's thyroiditis (104 nodules in 101 patients), benignity other than focal Hashimoto's thyroiditis (73 nodules in 70 patients), and malignancy (358 nodules in 350 patients). On color Doppler sonography, four vascularity types were determined as: hypovascularity, marked internal flow, marked peripheral flow and focal thyroid inferno. The χ2 test was performed to seek the potential vascularity type with the predictive ability of certain thyroid pathology. Furthermore, the gray-scale features of each nodule were also studied. The vascularity type I (hypovascularity) was more often seen in focal Hashimoto's thyroiditis than other benignity and malignancy (46% vs. 20.5% and 19%). While the type II (marked internal flow) showed the opposite tendency (26.9% [focal Hashimoto's thyroiditis] vs. 45.2% [other benignity] and 52.8% [malignancy]). However, type III (marked peripheral flow) was unable to predict any thyroid pathology. Importantly, type IV (focal thyroid inferno) was exclusive to focal Hashimoto's thyroiditis. All 8 type IV nodules appeared to be solid, hypoechoic, and well-defined. Using "focal thyroid inferno" as an indicator of FHT, the diagnostic sensitivity and specificity were 7.7% and 100% respectively. The vascularity type of "focal thyroid inferno" is specific for focal Hashimoto thyroiditis. Recognition of this particular feature may avoid unnecessary interventional procedures for some solid hypoechoic thyroid nodules suspicious of malignancy. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  7. Transparent meta-analysis: does aging spare prospective memory with focal vs. non-focal cues?

    Directory of Open Access Journals (Sweden)

    Bob Uttl

    Full Text Available BACKGROUND: Prospective memory (ProM is the ability to become aware of a previously-formed plan at the right time and place. For over twenty years, researchers have been debating whether prospective memory declines with aging or whether it is spared by aging and, most recently, whether aging spares prospective memory with focal vs. non-focal cues. Two recent meta-analyses examining these claims did not include all relevant studies and ignored prevalent ceiling effects, age confounds, and did not distinguish between prospective memory subdomains (e.g., ProM proper, vigilance, habitual ProM (see Uttl, 2008, PLoS ONE. The present meta-analysis focuses on the following questions: Does prospective memory decline with aging? Does prospective memory with focal vs. non-focal cues decline with aging? Does the size of age-related declines with focal vs. non-focal cues vary across ProM subdomains? And are age-related declines in ProM smaller than age-related declines in retrospective memory? METHODS AND FINDINGS: A meta-analysis of event-cued ProM using data visualization and modeling, robust count methods, and conventional meta-analysis techniques revealed that first, the size of age-related declines in ProM with both focal and non-focal cues are large. Second, age-related declines in ProM with focal cues are larger in ProM proper and smaller in vigilance. Third, age-related declines in ProM proper with focal cues are as large as age-related declines in recall measures of retrospective memory. CONCLUSIONS: The results are consistent with Craik's (1983 proposal that age-related declines on ProM tasks are generally large, support the distinction between ProM proper vs. vigilance, and directly contradict widespread claims that ProM, with or without focal cues, is spared by aging.

  8. Age-related disruption of autophagy in dermal fibroblasts modulates extracellular matrix components

    Energy Technology Data Exchange (ETDEWEB)

    Tashiro, Kanae [Skin Research Department, POLA Chemical Industries, Inc., Yokohama (Japan); Division of Pharmaceutical Cell Biology, Graduate School of Pharmaceutical Sciences, Kyushu University, Fukuoka (Japan); Shishido, Mayumi [Skin Research Department, POLA Chemical Industries, Inc., Yokohama (Japan); Fujimoto, Keiko [Division of Pharmaceutical Cell Biology, Graduate School of Pharmaceutical Sciences, Kyushu University, Fukuoka (Japan); Organelle Homeostasis Research Center, Kyushu University, Fukuoka (Japan); Hirota, Yuko [Division of Pharmaceutical Cell Biology, Graduate School of Pharmaceutical Sciences, Kyushu University, Fukuoka (Japan); Yo, Kazuyuki; Gomi, Takamasa [Skin Research Department, POLA Chemical Industries, Inc., Yokohama (Japan); Tanaka, Yoshitaka, E-mail: tanakay@bioc.phar.kyushu-u.ac.jp [Division of Pharmaceutical Cell Biology, Graduate School of Pharmaceutical Sciences, Kyushu University, Fukuoka (Japan); Organelle Homeostasis Research Center, Kyushu University, Fukuoka (Japan)

    2014-01-03

    Highlights: •Autophagosomes accumulate in aged dermal fibroblasts. •Autophagic degradation is impaired in aged dermal fibroblasts. •Autophagy disruption affects extracellular matrix components in dermal fibroblasts. -- Abstract: Autophagy is an intracellular degradative system that is believed to be involved in the aging process. The contribution of autophagy to age-related changes in the human skin is unclear. In this study, we examined the relationship between autophagy and skin aging. Transmission electron microscopy and immunofluorescence microscopy analyses of skin tissue and cultured dermal fibroblasts derived from women of different ages revealed an increase in the number of nascent double-membrane autophagosomes with age. Western blot analysis showed that the amount of LC3-II, a form associated with autophagic vacuolar membranes, was significantly increased in aged dermal fibroblasts compared with that in young dermal fibroblasts. Aged dermal fibroblasts were minimally affected by inhibition of autophagic activity. Although lipofuscin autofluorescence was elevated in aged dermal fibroblasts, the expression of Beclin-1 and Atg5—genes essential for autophagosome formation—was similar between young and aged dermal fibroblasts, suggesting that the increase of autophagosomes in aged dermal fibroblasts was due to impaired autophagic flux rather than an increase in autophagosome formation. Treatment of young dermal fibroblasts with lysosomal protease inhibitors, which mimic the condition of aged dermal fibroblasts with reduced autophagic activity, altered the fibroblast content of type I procollagen, hyaluronan and elastin, and caused a breakdown of collagen fibrils. Collectively, these findings suggest that the autophagy pathway is impaired in aged dermal fibroblasts, which leads to deterioration of dermal integrity and skin fragility.

  9. Detection of increased frequency of thyroid hypoplasia in subjects irradiated in utero as the results of Chernobyl catastrophe

    Energy Technology Data Exchange (ETDEWEB)

    Drozd, V.; Danilova, L.; Lushchyk, M.; Leonova, T.; Platonova, T. [International Fund Arnica, Minsk (Belarus); Grigorovich, A.; Sivuda, V. [Brest Regional Endocrinological Dispensary, Brest (Belarus); Branovan, I. [Chernobyl Project, New-York (United States); Biko, I.; Reiners, C. [Clinic and Policlinic of Nuclear Medicine, University of Wurzburg, Wursburg (Germany)

    2012-07-01

    For the 24 years passed after the Chernobyl catastrophe a significant experience in estimation of medical consequences of thyroid irradiation among Belarus patients had been accumulated. The aim of our screening of ultrasonic examination was the detection of the thyroid hypoplasia prevalence in the regions affected with radionuclide fallout. Since 2004 to 2007 thyroid ultrasound with volume estimation was performed in 3311 Belarus subjects, living on the areas of Brest region with the different contamination rate density. Examined subjects were divided in 3 groups: 1) irradiated at the age of 1 to 3 years old at the moment of Chernobyl catastrophe, 2) irradiated in utero, and 3) born after the catastrophe. It was revealed that thyroid hypoplasia was detected in 3% of group 1 (out of 1876 persons), in 5, 8% of group 2 (out of 503 persons, P<0.05) and in 1, 7% of the third group (out of 932 persons). The separation of the irradiated in utero subjects (group 2) to subgroups in dependence of the gestation period, showed the highest prevalence of thyroid hypoplasia among the irradiated in the first trimester of gestation: 7, 7% (P<0.05), in the second trimester: 5, 3%, in the third trimester: 4, 7%

  10. RARE ASSOCIATION OF POSTERIOR EMBRYOTOXON WITH MAXILLARY HYPOPLASIA, VENTRICULAR SEPTAL DEFECT, PULMONARY ATRESIA AND PATENT DUCTUS ARTERIOSUS

    Directory of Open Access Journals (Sweden)

    Pandey

    2014-12-01

    Full Text Available BACKGROUND: Posterior embryotoxon is a congenital anomaly, considered to be a relatively mild disorder and can occur in 15% of normal eyes. Bilateral posterior embryotoxon associated with maxillary hypoplasia, Ventricular Septal Defect (VSD, Pulmonary Atresia (PA with Patent Ductus Arteriosus (PDA is of rare occurrence and hasn’t been reported in literature till date. CASE: We report a case of 12 year old female who came to us in eye Out Patient Department for routine eye checkup and on detailed ocular examination we found anteriorly displaced Schwalbe’s line. On detailed physical examination and investigations she was found to have pan-systolic murmur and continuous machinery murmur. On Echocardiography, the patient was found to have large peri-membranous VSD with PA and PDA. On Oro-dental examination she was found to have maxillary hypoplasia. CONCLUSION: The present case is reported due to the rarity and sporadic character of the condition and its rare association with cardiac defect and maxillary hypoplasia.

  11. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

    Science.gov (United States)

    Shafeghati, Yousef; Kahrizi, Kimia; Najmabadi, Hossein; Kuss, Andreas Walter; Ropers, Hans-Hilger; Tzschach, Andreas

    2010-12-01

    Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945) is a rare congenital disorder. Only seven patients have been reported to date, and the etiology of this syndrome is unknown. Autosomal dominant inheritance with variable expression has been suggested based on the presence of minor features in some parents and the fact that neither parental consanguinity nor pairs of affected siblings were observed. We report on the first patient with this syndrome who was born to consanguineous parents. Neither the mother nor the father, who were first cousins, had clinical features suggestive of a manifestation of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome. The patient had no siblings, and the family history was unremarkable. Clinical problems included brachydactyly of hands and feet, splaying of fingers and toes, preaxial polydactyly of feet, bilateral tibial aplasia, shortened radius and ulna, and characteristic facial dysmorphic signs. The detailed description of this patient adds to our knowledge of the clinical manifestations of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome and will eventually also contribute to the elucidation of the underlying gene defects.

  12. Vertebral Artery Hypoplasia and Posterior Circulation Infarction in Patients with Isolated Vertigo with Stroke Risk Factors.

    Science.gov (United States)

    Zhang, Dao Pei; Lu, Gui Feng; Zhang, Jie Wen; Zhang, Shu Ling; Ma, Qian Kun; Yin, Suo

    2017-02-01

    We aimed in this study to investigate the prevalence of vertebral artery hypoplasia (VAH) in a population with isolated vertigo in association with stroke risk factors, to determine whether VAH is an independent risk factor for posterior circulation infarction (PCI). We sequentially enrolled 245 patients with isolated vertigo with at least 1 vascular risk factor, who were divided into PCI and non-PCI groups, according to present signs of acute infarction on diffusion-weighted magnetic resonance imaging. All patients underwent magnetic resonance angiography and cervical contrast-enhanced magnetic resonance angiography to screen for VAH. Univariate and multivariate logistic regression analyses were performed to identify the significant risk factors for PCI. VAH was found in 64 of 245 patients (26%). VAH (odds ratio [OR] = 2.70, 95%confidence interval [CI] 1.17-6.23, P = .020), median stenosis of the posterior circulation (OR = 7.09, 95%CI = 2.54-19.79, P vertigo with PCI complicated by VAH was mainly small-artery occlusion. Our findings suggest that VAH is an independent risk factor for PCI in patients with isolated vertigo with confirmed risk from stroke. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  13. Applying standard perikymata profiles to Pongo pygmaeus canines to estimate perikymata counts between linear enamel hypoplasias.

    Science.gov (United States)

    O'Hara, Mackie

    2017-05-01

    Recently, studies have interpreted regular spacing and average number of perikymata between dental enamel defects in orangutans to reflect seasonal episodes of physiological stress. To estimate the amount of time between developmental defects (enamel hypoplasia), studies have relied on perikymata counts. Unfortunately, perikymata are frequently not continuously visible between defects, significantly reducing data sets. A method is presented here for estimating the number of perikymata between defects using standard perikymata profiles (SPP) that allow the number of perikymata between all pairs of defects across a tooth to be analyzed. The SPP method should allow the entire complement of defects to be analyzed within the context of an individual's crown formation time. The average number of perikymata were established per decile and charted to create male and female Pongo pygmaeus SPPs. The position of the beginning of each defect was recorded for lower canines from males (n = 6) and females (n = 17). The number of perikymata between defects estimated by the SPP was compared to the actual count (where perikymata were continuously visible). The number of perikymata between defects estimated by the SPPs was accurate within three perikymata and highly correlated with the actual counts, significantly increasing the number of analyzable defect pairs. SPPs allow all defect pairs to be included in studies of defect timing, not just those with continuously visible perikymata. Establishing an individual's entire complement of dental defects makes it possible to calculate the regularity (and potential seasonality) of defects. © 2017 Wiley Periodicals, Inc.

  14. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

    Science.gov (United States)

    Horn, Julia; Schlesier, Michael; Warnatz, Klaus; Prasse, Antje; Superti-Furga, Andrea; Peter, Hans-Hartmut; Salzer, Ulrich

    2010-09-01

    Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis.

  15. The Placental Distal Villous Hypoplasia Pattern: Interobserver Agreement and Automated Fractal Dimension as an Objective Metric.

    Science.gov (United States)

    Mukherjee, Anika; Chan, Adrian D C; Keating, Sarah; Redline, Raymond W; Fritsch, Michael K; Machin, Geoffrey A; Cornejo-Palma, Daniel; de Nanassy, Joseph; El-Demellawy, Dina; von Dadelszen, Peter; Benton, Samantha J; Grynspan, David

    2016-01-01

    The distal villous hypoplasia (DVH) pattern is a placental correlate of fetal growth restriction. Because the pattern seems to involve less complexity than do appropriately developed placental villi, we postulated that it may be associated with lower fractal dimension-a mathematical measure of complexity. Our study objectives were to evaluate interobserver agreement related to the DVH pattern among expert pathologists and to determine whether pathologist classification of DVH correlates with fractal dimension. A study set of 30 images of placental parenchyma at ×4 magnification was created by a single pathologist from a digital slide archive. The images were graded for the DVH pattern according to pre-specified definitions and included 10 images graded as "no DVH" (grade  =  0), 10 with mild to moderate DVH (grade  =  1), and 10 with severe DVH (grade  =  2). The images were randomly sorted and shown to a panel of 4 international experts who similarly graded the images for DVH. Weighted kappas were calculated. For each image, fractal dimension was calculated by the Box Counting method. The correlation coefficient between (1) the averaged DVH scores obtained by the 5 pathologists and (2) fractal dimension was calculated. The mean weighted kappa score among the observers was 0.59 (range: 0.42-0.70). The correlation coefficient between fractal dimension and the averaged DVH score was -0.915 (P fractal dimension and represents an objective measure for DVH.

  16. Enamel hypoplasias and physiological stress in the Sima de los Huesos Middle Pleistocene hominins.

    Science.gov (United States)

    Cunha, E; Rozzi, F Ramirez; Bermúdez de Castro, J M; Martinón-Torres, M; Wasterlain, S N; Sarmiento, S

    2004-11-01

    This study presents an analysis of linear enamel hypoplasias (LEH) and plane-form defects (PFD) in the hominine dental sample from the Sima de los Huesos (SH) Middle Pleistocene site in Atapuerca (Spain). The SH sample comprises 475 teeth, 467 permanent and 8 deciduous, belonging to a minimum of 28 individuals. The method for recording PFD and LEH is discussed, as well as the definition of LEH. The prevalence of LEH and PFD in SH permanent dentition (unilateral total count) is 4.6% (13/280). Only one deciduous tooth (lower dc) showed an enamel disruption. Prevalence by individual ranges from 18.7-30%. The most likely explanation for the relatively low LEH and PFD prevalence in the SH sample suggests that the SH population exhibited a low level of developmental stress. The age at occurrence of LEH and PFD was determined by counting the number of perikymata between each lesion and the cervix of the tooth. Assuming a periodicity of nine days for the incremental lines, the majority of LEH in the SH sample occurred during the third year of life and may be related to the metabolic stress associated with weaning.

  17. Adrenal hypoplasia congenita: a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism

    Directory of Open Access Journals (Sweden)

    Marta Loureiro

    2015-09-01

    Full Text Available Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal insufficiency. During follow-up, adrenal hypoplasia congenita (AHC was suspected given his persistently raised adrenocorticotropic hormone levels, with markedly low 17-OH progesterone and androstenedione levels. DNA sequence analysis revealed a mutation in NR0B1 gene (c.1292delG, confirming the diagnosis. Delayed puberty and persistent low levels of gonadotropins led to testosterone replacement therapy. X-linked AHC is a rare cause of primary adrenal insufficiency and hypogonadotropic hypogonadism, related to mutations in NR0B1 gene. Despite its rarity, AHC should be considered in patients who present with primary adrenal failure, low levels of 17-OH progesterone and hypogonadotropic hypogonadism.

  18. Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism.

    Science.gov (United States)

    Wax, J R; Prabhakar, G; Giraldez, R A; Hutchins, G M; Stetten, G; Blakemore, K J

    1994-05-01

    The association of urinary anomalies with Turner's syndrome is well established. This report describes an unusual antenatal presentation of this cytogenetic disorder and the first reported case of unilateral renal hypoplasia and contralateral renal agenesis in a 45,X/46,XY fetus. The fetus presented with severe third trimester oligohydramnios and symmetrical intrauterine growth retardation at 29 weeks and 2 days' gestation. Chorionic villus cultures revealed a 45,X karyotype. A phenotypically male infant weighing 1833 g was delivered at 35 weeks and 2 days. Chromosomal analysis of the newborn showed a 45,X/46,XY mosaicism, and surgical exploration revealed absence of the left kidney and a hypoplastic right kidney. The infant died at 11 months of age from renal failure and peritonitis. This case demonstrates that monosomy X may be encountered in fetuses with marked growth delay and oligohydramnios. The etiology of the oligohydramnios in this case was a fetal renal malformation not previously described in Turner's syndrome. Antenatal cytogenetic findings should be confirmed postnatally, with a search for mosaicism, when monosomy X is encountered.

  19. Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability.

    Science.gov (United States)

    Nakashima, Eiji; Tran, Joseph R; Welting, Tim J M; Pruijn, Ger J M; Hirose, Yuichiro; Nishimura, Gen; Ohashi, Hirofumi; Schurman, Shepherd H; Cheng, Jun; Candotti, Fabio; Nagaraja, Ramaiah; Ikegawa, Shiro; Schlessinger, David

    2007-11-15

    Cartilage hair hypoplasia (CHH; MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. It is caused by mutations in RMRP gene, the RNA component of the ribonucleoprotein complex RNase MRP. Mutations in RMRP have been found in patients in the core promoter region or in the transcribed region, but the pathogenetic effect of the mutations is unclear. Real-time PCR assays confirmed that both promoter (c.-16_-1 dup and c.-15_+2 dup) and transcribed mutations (c.168G > A and c.218A > G) lower the expression level of RMRP. Experiments with 5'RACE, showed that the reduced transcription in the promoter mutants was accompanied by shifting of the transcription initiation sites to nucleotides 5'-upstream of the authentic site. Low levels of RMRP expression levels with transcript mutations were also seen when constructs encoding the wild-type and mutant genes were transfected into cultured cells. The reduced transcription was correlated with greater instability of mutant RMRP transcripts compared to controls. A comparable reduction was seen when a mouse gene containing the c.70A > G mutation (the major mutation in humans with CHH) was introduced into ES cells in place of one of the wild-type alleles. The low expression level of the c.70A > G Rmrp RNA was confirmed by expression assays into cultured cells, and was again correlated with RNA instability. Our results indicate that a loss of mutant RNA transcripts is a critical feature of pathogenesis. (c) 2007 Wiley-Liss, Inc.

  20. Iron as the Key Modulator of Hepcidin Expression in Erythroid Antibody-Mediated Hypoplasia

    Directory of Open Access Journals (Sweden)

    J. C. Fernandes

    2014-01-01

    Full Text Available Erythroid hypoplasia (EH is a rare complication associated with recombinant human erythropoietin (rHuEPO therapies, due to development of anti-rHuEPO antibodies; however, the underlying mechanisms remain poorly clarified. Our aim was to manage a rat model of antibody-mediated EH induced by rHuEPO and study the impact on iron metabolism and erythropoiesis. Wistar rats treated during 9 weeks with a high rHuEPO dose (200 IU developed EH, as shown by anemia, reduced erythroblasts, reticulocytopenia, and plasmatic anti-rHuEPO antibodies. Serum iron was increased and associated with mRNA overexpression of hepatic hepcidin and other iron regulatory mediators and downregulation of matriptase-2; overexpression of divalent metal transporter 1 and ferroportin was observed in duodenum and liver. Decreased EPO expression was observed in kidney and liver, while EPO receptor was overexpressed in liver. Endogenous EPO levels were normal, suggesting that anti-rHuEPO antibodies blunted EPO function. Our results suggest that anti-rHuEPO antibodies inhibit erythropoiesis causing anemia. This leads to a serum iron increase, which seems to stimulate hepcidin expression despite no evidence of inflammation, thus suggesting iron as the key modulator of hepcidin synthesis. These findings might contribute to improving new therapeutic strategies against rHuEPO resistance and/or development of antibody-mediated EH in patients under rHuEPO therapy.

  1. I Focalize, You Focalize, We All Focalize Together: Audience Participation in Persepolis

    Directory of Open Access Journals (Sweden)

    Lizzie Nixon

    2010-06-01

    Full Text Available

    Abstract (E: This article combines theories of cognition and empathy with focalization theory to examine how and why different forms of audience engagement in fictional worlds are cued. The article argues that critics should examine the differences between engagement that encourages audiences to apply their own frames to the world presented and type engagement cued by means of point-of-view shots and close-ups of facial expressions.

    Abstract (F: Cet article combine les théories de la cognition et de l’empathie avec la théorie de la focalisation afin d’analyser comment et pourquoi certaines œuvres construisent la manière dont le public est invité à s’investir dans des mondes fictionnels. Il défend l

  2. Efek Pemberian Suntikan Subkutan Vitamin C Terhadap Luka Insisi Dermal

    Directory of Open Access Journals (Sweden)

    Surya Darma

    2013-09-01

    Full Text Available Abstrak Vitamin C berfungsi sebagai kofaktor enzyme prolil dan lysil hydroxilase. Enzym tersebut berfungsi dalam proses hidroksilasi yang membentuk ikatan hidroksiprolin dan hidroksilisin pada fibroblast dalam membentuk kolagen. Selain itu Vitaimin C juga berfungsi meregulasi dan menstabilkan trankripsi gen mRNA prokolagen pada proses pembentukan kolagen di dermis. Berdasarkan hal tersebut diatas, peneliti tertarik untuk membuktikan apakah pemberian vitamin C subkutan disekitar luka insisi dermal berefek pada pembentukan kolagen yang lebih padat dalam proses penyembuhan luka. Metode: Penelitian eksperimental ini menggunakan tikus Wistar sebanyak 32 ekor, yang dibagi menjadi 2 kelompok yaitu 16 ekor sebagai kontrol dan 16 ekor lagi sebagai perlakuan. Pada kedua kelompok dilakukan insisi di punggung sepanjang 2 cm. Kelompok perlakuan diberi suntikan vitamin C subkutan disekitar luka insisi dermal sebanyak 9 mg (0,09ml, sedangkan kelompokkontrol tidak diberikan.Pada hari kelima dilakukan pengambilan jaringan luka pada kedua sampel untuk pemeriksaan kepadatan kolagen secara mikroskopik. Hasil:Kepadatan kolagen pada hari kelimamenunjukkan perbedaan yang bermakna dari efek penyuntikan vitamin C subkutan terhadap kepadatan kolagen (χ2 = 5,833; P<0,05. Kesimpulan: Penyuntikan vitamin C subkutan disekitar luka insisi dermal efektif dalam meeningkatan kepadatan kolagen. Kata kunci: suntikan vitamin C subkutan, kepadatan kolagen. Abstract Vitamin C functions as enzyme co-factor for prolyl and hidroxylase lysil. The enzyme functions in hydroxylase process that builds hydroxyproline and hydroxylysine bondsin fibroblast in the synthesis of collagen. Besides that, vitamin C also functions in regulating and stabilizing procollagen mRNA gen transcription in dermal collagen synthesis. Based on the facts above, researchers are interested to prove whether subcutaneous injection of vitamin C around dermal insisional wound would result in more compact collagen

  3. Efek Pemberian Suntikan Subkutan Vitamin C Terhadap Luka Insisi Dermal

    Directory of Open Access Journals (Sweden)

    Surya Darma

    2014-09-01

    Full Text Available Abstrak Vitamin C berfungsi sebagai kofaktor enzyme prolil dan lysil hydroxilase. Enzym tersebut berfungsi dalam proses hidroksilasi yang membentuk ikatan hidroksiprolin dan hidroksilisin pada fibroblast dalam membentuk kolagen. Selain itu Vitaimin C juga berfungsi meregulasi dan menstabilkan trankripsi gen mRNA prokolagen pada proses pembentukan kolagen di dermis. Berdasarkan hal tersebut diatas, peneliti tertarik untuk membuktikan apakah pemberian vitamin C subkutan disekitar luka insisi dermal berefek pada pembentukan kolagen yang lebih padat dalam proses penyembuhan luka. Metode: Penelitian eksperimental ini menggunakan tikus Wistar sebanyak 32 ekor, yang dibagi menjadi 2 kelompok yaitu 16 ekor sebagai kontrol dan 16 ekor lagi sebagai perlakuan. Pada kedua kelompok dilakukan insisi di punggung sepanjang 2 cm. Kelompok perlakuan diberi suntikan vitamin C subkutan disekitar luka insisi dermal sebanyak 9 mg (0,09ml, sedangkan kelompokkontrol tidak diberikan.Pada hari kelima dilakukan pengambilan jaringan luka pada kedua sampel untuk pemeriksaan kepadatan kolagen secara mikroskopik. Hasil:Kepadatan kolagen pada hari kelimamenunjukkan perbedaan yang bermakna dari efek penyuntikan vitamin C subkutan terhadap kepadatan kolagen (χ2 = 5,833; P<0,05. Kesimpulan: Penyuntikan vitamin C subkutan disekitar luka insisi dermal efektif dalam meeningkatan kepadatan kolagen. Kata kunci: suntikan vitamin C subkutan, kepadatan kolagen.Abstract Vitamin C functions as enzyme co-factor for prolyl and hidroxylase lysil. The enzyme functions in hydroxylase process that builds hydroxyproline and hydroxylysine bondsin fibroblast in the synthesis of collagen. Besides that, vitamin C also functions in regulating and stabilizing procollagen mRNA gen transcription in dermal collagen synthesis. Based on the facts above, researchers are interested to prove whether subcutaneous injection of vitamin C around dermal insisional wound would result in more compact collagen

  4. Enhancing dermal and bone regeneration in calvarial defect surgery

    Directory of Open Access Journals (Sweden)

    Bruno Zanotti

    2014-01-01

    Full Text Available Introduction: To optimize the functional and esthetic result of cranioplasty, it is necessary to choose appropriate materials and take steps to preserve and support tissue vitality. As far as materials are concerned, custom-made porous hydroxyapatite implants are biomimetic, and therefore, provide good biological interaction and biointegration. However, before it is fully integrated, this material has relatively low mechanical resistance. Therefore, to reduce the risk of postoperative implant fracture, it would be desirable to accelerate regeneration of the tissues around and within the graft. Objectives: The objective was to determine whether integrating growth-factor-rich platelet gel or supportive dermal matrix into hydroxyapatite implant cranioplasty can accelerate bone remodeling and promote soft tissue regeneration, respectively. Materials and Methods: The investigation was performed on cranioplasty patients fitted with hydroxyapatite cranial implants between 2004 and 2010. In 7 patients, platelet gel was applied to the bone/prosthesis interface during surgery, and in a further 5 patients, characterized by thin, hypotrophic skin coverage of the cranial lacuna, a sheet of dermal matrix was applied between the prosthesis and the overlying soft tissue. In several of the former groups, platelet gel mixed with hydroxyapatite granules was used to fill small gaps between the skull and the implant. To confirm osteointegration, cranial computed tomography (CT scans were taken at 3-6 month intervals for 1-year, and magnetic resonance imaging (MRI was used to confirm dermal integrity. Results: Clinical examination performed a few weeks after surgery revealed good dermal regeneration, with thicker, healthier skin, apparently with a better blood supply, which was confirmed by MRI at 3-6 months. Furthermore, at 3-6 months, CT showed good biomimetism of the porous hydroxyapatite scaffold. Locations at which platelet gel and hydroxyapatite granules were

  5. Enhancing dermal and bone regeneration in calvarial defect surgery.

    Science.gov (United States)

    Zanotti, Bruno; Zingaretti, Nicola; Almesberger, Daria; Verlicchi, Angela; Stefini, Roberto; Ragonese, Mauro; Guarneri, Gianni Franco; Parodi, Pier Camillo

    2014-01-01

    To optimize the functional and esthetic result of cranioplasty, it is necessary to choose appropriate materials and take steps to preserve and support tissue vitality. As far as materials are concerned, custom-made porous hydroxyapatite implants are biomimetic, and therefore, provide good biological interaction and biointegration. However, before it is fully integrated, this material has relatively low mechanical resistance. Therefore, to reduce the risk of postoperative implant fracture, it would be desirable to accelerate regeneration of the tissues around and within the graft. The objective was to determine whether integrating growth-factor-rich platelet gel or supportive dermal matrix into hydroxyapatite implant cranioplasty can accelerate bone remodeling and promote soft tissue regeneration, respectively. The investigation was performed on cranioplasty patients fitted with hydroxyapatite cranial implants between 2004 and 2010. In 7 patients, platelet gel was applied to the bone/prosthesis interface during surgery, and in a further 5 patients, characterized by thin, hypotrophic skin coverage of the cranial lacuna, a sheet of dermal matrix was applied between the prosthesis and the overlying soft tissue. In several of the former groups, platelet gel mixed with hydroxyapatite granules was used to fill small gaps between the skull and the implant. To confirm osteointegration, cranial computed tomography (CT) scans were taken at 3-6 month intervals for 1-year, and magnetic resonance imaging (MRI) was used to confirm dermal integrity. Clinical examination performed a few weeks after surgery revealed good dermal regeneration, with thicker, healthier skin, apparently with a better blood supply, which was confirmed by MRI at 3-6 months. Furthermore, at 3-6 months, CT showed good biomimetism of the porous hydroxyapatite scaffold. Locations at which platelet gel and hydroxyapatite granules were used to fill gaps between the implant and skull appeared to show more rapid

  6. Inhalational and dermal exposures during spray application of biocides.

    Science.gov (United States)

    Berger-Preiss, Edith; Boehncke, Andrea; Könnecker, Gustav; Mangelsdorf, Inge; Holthenrich, Dagmar; Koch, Wolfgang

    2005-01-01

    Data on inhalational and potential dermal exposures during spray application of liquid biocidal products were generated. On the one hand, model experiments with different spraying devices using fluorescent tracers were carried out to investigate the influence of parameters relevant to the exposure (e.g. spraying equipment, nozzle size, direction of application). On the other hand, measurements were performed at selected workplaces (during disinfection operations in food and feed areas; pest control operations for private, public and veterinary hygiene; wood protection and antifouling applications) after application of biocidal products such as Empire 20, Responsar SC, Omexan-forte, Actellic, Perma-forte; Fendona SC, Pyrethrum mist; CBM 8, Aldekol Des 03, TAD CID, Basileum, Basilit. The measurements taken in the model rooms demonstrated dependence of the inhalation exposure on the type of spraying device used, in the following order: "spraying with low pressure" < "airless spraying" < "fogging" indicating that the particle diameter of the released spray droplets is the most important parameter. In addition inhalation exposure was lowest when the spraying direction was downward. Also for the potential dermal exposure, the spraying direction was of particular importance: overhead spraying caused the highest contamination of body surfaces. The data of inhalational and potential dermal exposures gained through workplace measurements showed considerable variation. During spraying procedures with low-pressure equipments, dose rates of active substances inhaled by the operators ranged from 7 to 230 microg active substance (a.s.)/h. An increase in inhaled dose rates (6-33 mg a.s./h) was observed after use of high application volumes/time unit during wood protection applications indoors. Spraying in the veterinary sector using medium-pressure sprayers led to inhaled dose rates between 2 and 24mga.s./h. The highest inhaled dose rates were measured during fogging (114 mg a

  7. Focal Adhesion-Independent Cell Migration.

    Science.gov (United States)

    Paluch, Ewa K; Aspalter, Irene M; Sixt, Michael

    2016-10-06

    Cell migration is central to a multitude of physiological processes, including embryonic development, immune surveillance, and wound healing, and deregulated migration is key to cancer dissemination. Decades of investigations have uncovered many of the molecular and physical mechanisms underlying cell migration. Together with protrusion extension and cell body retraction, adhesion to the substrate via specific focal adhesion points has long been considered an essential step in cell migration. Although this is true for cells moving on two-dimensional substrates, recent studies have demonstrated that focal adhesions are not required for cells moving in three dimensions, in which confinement is sufficient to maintain a cell in contact with its substrate. Here, we review the investigations that have led to challenging the requirement of specific adhesions for migration, discuss the physical mechanisms proposed for cell body translocation during focal adhesion-independent migration, and highlight the remaining open questions for the future.

  8. Focal Cryoablation of Prostate: A Review

    Directory of Open Access Journals (Sweden)

    Duke K. Bahn

    2008-01-01

    Full Text Available Current treatment options for men with early localized prostate cancer are either some form of radical therapy or active surveillance. Radical therapy is usually associated with significant adverse effects that might jeopardize a man's quality of life. Some observers believe that PSA screening has resulted in the over diagnosis and over treatment of prostate cancer. Many men are being diagnosed with an early stage, small volume, unifocal or unilateral prostate cancer but are reluctant to accept watchful waiting or active surveillance. Focal cryoablation is the less than complete ablation of the gland with ice. Based on review of the limited amount of material available in the current literature, focal cryoablation can provide acceptable cancer control while preserving sexual potency and urinary continence. Focal cryoablation may fill a void in the therapeutic options available to patients with unifocal or unilateral prostate cancer who have a strong desire to maintain their quality of life.

  9. Measuring microfocus focal spots using digital radiography

    Energy Technology Data Exchange (ETDEWEB)

    Fry, David A [Los Alamos National Laboratory

    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.

  10. Solid-state curved focal plane arrays

    Science.gov (United States)

    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.

  11. Expansive focal cemento-osseous dysplasia.

    Science.gov (United States)

    Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

    2012-01-01

    To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis

  12. Dermal fat graft from simultaneous abdominoplasty as an adjunct to revision aesthetic and reconstructive breast surgery: A poor man's acellular dermal matrix?

    Directory of Open Access Journals (Sweden)

    F. Xie

    2014-01-01

    CONCLUSION: We herein report the use of free dermal fat graft in revision aesthetic and reconstructive surgery in a manner akin to recent acellular dermal matrix use. The comparable enhanced aesthetic outcomes, minimal complication rate and substantial cost savings merit dissemination to a global audience and encourage surgeons to consider this economic alternative.

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

    Science.gov (United States)

    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.

  14. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Directory of Open Access Journals (Sweden)

    D.J. O'Rourke

    2014-01-01

    Full Text Available 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.

  15. Ambroxol-induced focal epileptic seizure.

    Science.gov (United States)

    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.

  16. Extensive Focal Epithelial Hyperplasia: A Case Report

    OpenAIRE

    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 his...

  17. Extensive Focal Epithelial Hyperplasia: A Case Report.

    Science.gov (United States)

    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. Actinic Granuloma with Focal Segmental Glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Ruedee Phasukthaworn

    2016-02-01

    Full Text Available 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.

  19. A simple method for focal length measurement

    Science.gov (United States)

    Ma, Hua; Ren, Huan; Zhang, Lin; Shi, Zhengdong; Yuan, Quan; Yang, Yi

    2016-09-01

    A simple method for focal length measurement based on image processing is demonstrated and discussed. The collimated beam, detector, motorized translation stage and computer make up of this test system. The two spots pass through the tested lens is accepted by detector, which is transferred twice by motorized translation stage. By acquired the difference of two spots by image processing, the focal length of the tested lens can be gained. The error sources in the measurement are analyzed. Then the results of experiment show that the relative error was 0.1%. This method can be used in workshop and labs for its convenience and low cost.

  20. Tibia Vara due to Focal Fibrocartilaginous Dysplasia

    Directory of Open Access Journals (Sweden)

    A Tavakoli

    2004-06-01

    Full Text Available We present a case of unilateral tibia vara associated with an area of focal fibrocartilaginous dysplasia in the medial aspect of the right proximal tibia. Such a case has not been described previously. The affected child was 8 months old. Deformity resolved without aggressive treatment. The pathogenesis of the focal lesion remains controversial. The most likely explanation is that the mesenchymal anlage of the tibial metaphysis has for unknown reasons, developed abnormality at the insertion of the pes anserinus. Keywords: Tibia Vara, Pes Anserinus

  1. Dermal versus total uptake of benzene from mineral spirits solvent during parts washing.

    Science.gov (United States)

    Bogen, Kenneth T; Sheehan, Patrick J

    2014-07-01

    Quantitative approaches to assessing exposure to, and associated risk from, benzene in mineral spirits solvent (MSS), used widely in parts washing and degreasing operations, have focused primarily on the respiratory pathway. The dermal contribution to total benzene uptake from such operations remains uncertain because measuring in vivo experimental dermal uptake of this volatile human carcinogen is difficult. Unprotected dermal uptake involves simultaneous sustained immersion events and transient splash/wipe events, each yielding residues subject to evaporation as well as dermal uptake. A two-process dermal exposure framework to assess dermal uptake to normal and damaged skin was applied to estimate potential daily dermal benzene dose (Dskin ) to workers who used historical or current formulations of recycled MSS in manual parts washers. Measures of evaporation and absorption of MSS dermally applied to human subjects were modeled to estimate in vivo dermal uptake of benzene in MSS. Uncertainty and interindividual variability in Dskin was characterized by Monte Carlo simulation, conditioned on uncertainty and/or variability estimated for each model input. Dermal exposures are estimated to average 33% of total (inhalation + dermal) benzene parts washing dose, with approximately equal predicted portions of dermal dose due to splash/wipe and to continuous contact with MSS. The estimated median (95th percentile) dermal and total daily benzene doses from parts washing are: 0.0069 (0.024) and 0.025 (0.18) mg/day using current, and 0.027 (0.085) and 0.098 (0.69) mg/day using historical, MSS solvents, respectively. © 2014 Society for Risk Analysis.

  2. Mathematical analysis of dermal absorption rate of heavy metals.

    Science.gov (United States)

    Batkin, Izmail; Bolic, Miodrag

    2015-08-01

    Presently 90 - 95% of children in the US wear disposable diapers before completing their toilet training at average age of 30 months. The diaper absorbs urine and liquid component from feces contaminated with excreted toxicants. In this initial study, we posit that the long contact between the diaper and the skin leads to increased dermal reabsorption of excreted body toxicants, mainly heavy metals, which are statistically associated with autism and neurodevelopmental disorder. We developed a mathematical model to analyse the increase of the level of toxicants due to dermal reabsorption after excretion. This simple kinetic model gives us the average reabsorbtion factor in the range of 1.6 to 5. The limitation of this work is that only mathematical model has been considered and it has not been verified experimentally.

  3. A metabolically active dermal replacement (Dermagraft) for vestibuloplasty.

    Science.gov (United States)

    Raguse, J D; Gath, H J

    2005-05-01

    This article describes the use of tissue-engineered dermal replacement in the vestibular extension instead of palatal donor tissue or (split-thickness) skin graft. In three patients the living human-derived fibroblast skin substitute (Dermagraft) was implanted on the wound surface after mucogingival junction and supraperiosteal dissection. Following application of Dermagraft, epithelial closure starting from the resection margins of the defect was observed, obviating further surgical treatment. Vestibular depth was increased and no scarring or frena occurred. Tissue-engineered dermal replacement consisting of living human fibroblasts appears to be a useful substitute for autogenous grafts in pre-prosthetic surgery, offering the advantages of unlimited availability, good colour match and no donor site morbidity.

  4. Clinical, pathological, and etiologic aspects of acquired dermal melanocytosis.

    Science.gov (United States)

    Mizoguchi, M; Murakami, F; Ito, M; Asano, M; Baba, T; Kawa, Y; Kubota, Y

    1997-06-01

    To study the pathogenesis of acquired dermal melanocytosis (ADM), we reviewed the clinical, immunohistochemical, and ultrastructural features of 34 cases (female, 33, and male, 1) of ADM. The patients' ages at onset ranged from 8 to 51 years and averaged 26.8 +/- 12.7 years. There was a positive family history. Gray-brown macules were mostly recognized on the face. Not only active dermal melanocytes but also non-pigmented c-KIT- and TRP-2-positive immature melanocytes were detected in the dermis. Taken together those clinical and histological findings, activation of pre-existing immature melanocytes by sunlight, estrogen, and/or progesterone, and some other factors, may be the most likely mode of the development of ADM. Moreover, using cultured murine neural crest cells as a model of c-KIT-positive immature melanocytes, we confirmed that endothelin-1, which is produced and secreted by keratinocytes after UV-irradiation, affects melanocytes and accelerated melanogenesis.

  5. Mycobacterium chelonae Facial Infections Following Injection of Dermal Filler

    OpenAIRE

    Rodriguez, Jan M.; Xie, Yingda L.; Winthrop, Kevin L; Schafer, Sean; Sehdev, Paul; Solomon, Joel; Jensen, Bette; Toney, Nadege C.; Lewis, Paul F.

    2013-01-01

    A cluster of 3 facial Mycobacterium chelonae infections occurred after cosmetic dermal filler injections at a plastic surgery clinic. Pulsed-field gel electrophoresis showed that M chelonae isolated from the clinic tap water were identical to the patient wound isolates. Review of injection procedures identified application of nonsterile ice to the skin prior to injection as a possible source of M chelonae. Surveys of regional laboratories and a national plastic surgery listserv identified no ...

  6. Dermal tolerance of Sterillium, a propanol-based hand rub.

    Science.gov (United States)

    Kampf, G; Muscatiello, M

    2003-12-01

    Alcohol-based hand rubs have been used for hygienic hand disinfection in hospitals for decades. In order to achieve good compliance with hand hygiene practices in the healthcare setting, dermal tolerance of a hand rub product is crucial. Sterillium, which is used in many European countries for hygienic hand disinfection, is based on iso-propanol, n-propanol and mecetronium etilsulphate. The potential for dermal irritation and sensitization of commercially available propanol-based hand rubs containing emollients has not been studied systematically. We therefore studied the dermal tolerance of Sterillium in a repetitive occlusive patch test on 55 subjects. Sterillium was applied to one site on the back under an occlusive patch during an induction phase (total of nine applications over a three-week period) and two weeks later to a virgin site on the back during a challenge phase (one application). Twenty-four hours after removal of the patches (induction phase and challenge phase), and in addition, after 48 and 72 h (challenge phase), the sites were graded for skin reactions using a standardized scoring scale. In the induction phase, two of the 55 subjects had a barely perceptible minimal erythema at one of nine time points. The remaining 53 subjects had no skin reaction at any time. In the challenge phase, all 55 subjects had no skin reaction at all. The absence of significant reactions with respect to severity and frequency demonstrates the favourable dermal tolerance of the hand rub product. The lack of irritation or sensitization potential could enhance compliance with hand hygiene among healthcare workers.

  7. Generation of human induced pluripotent stem cells from dermal fibroblasts

    OpenAIRE

    2008-01-01

    The generation of patient-specific pluripotent stem cells has the potential to accelerate the implementation of stem cells for clinical treatment of degenerative diseases. Technologies including somatic cell nuclear transfer and cell fusion might generate such cells but are hindered by issues that might prevent them from being used clinically. Here, we describe methods to use dermal fibroblasts easily obtained from an individual human to generate human induced pluripotent stem (iPS) cells by ...

  8. Dermal type I collagen assessment by digital image analysis*

    OpenAIRE

    Brianezi, Gabrielli; Grandi, Fabrizio; Bagatin, Ediléia; Enokihara, Mílvia Maria S. S.; Miot, Hélio Amante [UNESP

    2015-01-01

    Type I collagen is the main dermal component, and its evaluation is relevant to quantitative studies in dermatopathology. However, visual gradation (0 to 4+) has low precision and high subjectivity levels. This study aimed to develop and validate a digital morphometric analysis technique to estimate type I collagen levels in the papillary dermis. Four evaluators visually quantified (0 to 4+) the density of type I collagen in 63 images of forearm skin biopsies marked by immunohistochemistry an...

  9. Immune Suppression by Dermal Application of JP-8 Jet Fuel

    Science.gov (United States)

    2008-10-13

    transmitting the immunosuppressive signal from the skin to the immune system ( Limon -Flores, et al., Mast Cells mediate the Immune suppression Induced by...human and murine data. Nat Rev Immunol 7, 93-104. Byrne, S. N., Limon -Flores, A. Y. and Ullrich, S. E. (2008). Mast cell migration from the skin to...Ramos, G., Limon -Flores, A. Y. and Ullrich, S. E. (2007). Dermal exposure to jet fuel suppresses delayed-type hypersensitivity: a critical role

  10. Toxicity of dermally applied alpha-cypermethrin in rats.

    Science.gov (United States)

    Luty, S; Latuszyńska, J; Halliop, J; Tochman, A; Obuchowska, D; Przylepa, E; Korczak, E

    1998-01-01

    The aim of the study was to assess the immunotoxic effect of dermally applied alpha-cypermethrin in rats based on phagocytic and bactericidal activity of neutrophils of peripheral blood, and the general toxic effect based on histological and ultrastructural examination of internal organs. The preparation was dermally applied in doses of 50 mg/kg and 250 mg/kg. It was administered to the tail skin of female Wistar rats, 4 hours daily for 28 days. After the experiment, the animals were anaesthetized and heart blood was taken in order to evaluate the activity of granulocyte system. The following organs were taken for histological examinations: brain, lung, heart, liver, spleen, kidneys, thymus and lymphatic nodes. Lung, liver, kidney and heart were used for ultrastructural studies. The results of the study showed that bactericidal and phagocytic activity of neutrophils was stimulated after administration of 50 mg/kg alpha-cypermethrin. Dermal application of the preparation resulted in slight histological changes in liver, kidney, lung and brain. Pathological changes in heart were observed only on the level of ultrastructure.

  11. Dopamine regulates angiogenesis in normal dermal wound tissues.

    Directory of Open Access Journals (Sweden)

    Saurav Shome

    Full Text Available Cutaneous wound healing is a normal physiological process and comprises different phases. Among these phases, angiogenesis or new blood vessel formation in wound tissue plays an important role. Skin is richly supplied by sympathetic nerves and evidences indicate the significant role of the sympathetic nervous system in cutaneous wound healing. Dopamine (DA is an important catecholamine neurotransmitter released by the sympathetic nerve endings and recent studies have demonstrated the potent anti-angiogenic action of DA, which is mediated through its D(2 DA receptors. We therefore postulate that this endogenous catecholamine neurotransmitter may have a role in the neovascularization of dermal wound tissues and subsequently in the process of wound healing. In the present study, the therapeutic efficacy of D(2 DA receptor antagonist has been investigated for faster wound healing in a murine model of full thickness dermal wound. Our results indicate that treatment with specific D(2 DA receptor antagonist significantly expedites the process of full thickness normal dermal wound healing in mice by inducing angiogenesis in wound tissues. The underlined mechanisms have been attributed to the up-regulation of homeobox transcription factor HoxD3 and its target α5β1 integrin, which play a pivotal role in wound angiogenesis. Since D(2 DA receptor antagonists are already in clinical use for other disorders, these results have significant translational value from the bench to the bedside for efficient wound management along with other conventional treatment modalities.

  12. Dermal insecticide residues from birds inhabiting an orchard

    Science.gov (United States)

    Vyas, N.B.; Spann, J.W.; Hulse, C.S.; Gentry, S.; Borges, S.L.

    2007-01-01

    The US Environmental Protection Agency conducts risk assessments of insecticide applications to wild birds using a model that is limited to the dietary route of exposure. However, free-flying birds are also exposed to insecticides via the inhalation and dermal routes. We measured azinphos-methyl residues on the skin plus feathers and the feet of brown-headed cowbirds (Molothrus ater) in order to quantify dermal exposure to songbirds that entered and inhabited an apple (Malus x domestica) orchard following an insecticide application. Exposure to azinphos-methyl was measured by sampling birds from an aviary that was built around an apple tree. Birds sampled at 36 h and 7-day post-application were placed in the aviary within 1 h after the application whereas birds exposed for 3 days were released into the aviary 4-day post-application. Residues on vegetation and soil were also measured. Azinphos-methyl residues were detected from the skin plus feathers and the feet from all exposure periods. Our results underscore the importance of incorporating dermal exposure into avian pesticide risk assessments.

  13. Citral: identifying a threshold for induction of dermal sensitization.

    Science.gov (United States)

    Lalko, Jon; Api, Anne Marie

    2008-10-01

    Citral [CAS# 5392-40-5; EINECS# 226-394-6; RIFM # 116; cis- and trans-3,7-dimethyl-2,6-Octadienal] is an important fragrance ingredient appreciated for its powerful lemon-aroma. It is widely used in fragrance formulations and incorporated into numerous consumer products. A comprehensive review of the dermal sensitization data available for citral was undertaken with the goal of identifying a threshold for the induction of dermal sensitization. In 2007, a complete literature search was conducted. On-line databases that were surveyed included Chemical Abstract Services and the National Library of Medicine. In addition, the toxicologic database of the Research Institute for Fragrance materials, Inc. (RIFM) was searched, which includes numerous unpublished reports. Based on a weight of evidence approach, the data from this survey demonstrate that the human NOEL (No Observed Effect Level) for induction of dermal sensitization to citral is 1400 microg/cm(2). The identification of this induction threshold will allow for risk assessments to focus on primary prevention of contact allergy to citral based on a new Quantitative Risk Assessment (QRA) paradigm. This subsequent assessment will form the basis of a risk management approach; specifically a new IFRA (International Fragrance Association) standard on the use of citral in consumer products.

  14. Human acellular dermal wound matrix: evidence and experience.

    Science.gov (United States)

    Kirsner, Robert S; Bohn, Greg; Driver, Vickie R; Mills, Joseph L; Nanney, Lillian B; Williams, Marie L; Wu, Stephanie C

    2015-12-01

    A chronic wound fails to complete an orderly and timely reparative process and places patients at increased risk for wound complications that negatively impact quality of life and require greater health care expenditure. The role of extracellular matrix (ECM) is critical in normal and chronic wound repair. Not only is ECM the largest component of the dermal skin layer, but also ECM proteins provide structure and cell signalling that are necessary for successful tissue repair. Chronic wounds are characterised by their inflammatory and proteolytic environment, which degrades the ECM. Human acellular dermal matrices, which provide an ECM scaffold, therefore, are being used to treat chronic wounds. The ideal human acellular dermal wound matrix (HADWM) would support regenerative healing, providing a structure that could be repopulated by the body's cells. Experienced wound care investigators and clinicians discussed the function of ECM, the evidence related to a specific HADWM (Graftjacket(®) regenerative tissue matrix, Wright Medical Technology, Inc., licensed by KCI USA, Inc., San Antonio, TX), and their clinical experience with this scaffold. This article distills these discussions into an evidence-based and practical overview for treating chronic lower extremity wounds with this HADWM. © 2013 The Authors. International Wound Journal © 2013 Medicalhelplines.com Inc and John Wiley & Sons Ltd.

  15. Amorphous cyclosporin A nanoparticles for enhanced dermal bioavailability.

    Science.gov (United States)

    Romero, Gregori B; Arntjen, Anja; Keck, Cornelia M; Müller, Rainer H

    2016-02-10

    Cylosporin A (CyA) was formulated as amorphous nanoparticle suspension to increase dermal penetration, e.g. applicable in psoriasis. The suspension consisted of 5% CyA in water, stabilized with vitamin E polyethylene glycol succinate (TPGS, Kolliphor TPGS) and was produced by bead milling. The diameter of the bulk population was about 350 nm, laser diffraction diameter 99% was 690 nm. The suspension was physically stable over one year of storage at room temperature, and most important the amorphous state also remained stable. Despite the high dispersitivity and related large surface area in contact with water, the drug content reduced only by 5% over 1 year of storage. i.e. the formulation is feasible as commercial product with expiry date. The CyA nanoparticles and μm-sized CyA particles were incorporated into hydroxypropylcellulose (HPC) gels and the penetration studied into fresh pig ear skin applying the tape stripping method. At tape number 30, the penetrated cumulative amount of CyA from nanoparticles was 6.3 fold higher compared to the μm-sized raw drug powder (450.1 μg/cm(2) vs. 71.3 μg/cm(2)). A theoretical mechanism is presented to explain the observed superiority in penetration. Based on amorphous CyA nanoparticles, dermal formulations for improved dermal CyA delivery seem to be feasible. Copyright © 2015 Elsevier B.V. All rights reserved.

  16. Association between enamel hypoplasia and dental caries in primary second molars and permanent first molars: A 3-year follow-up study

    Directory of Open Access Journals (Sweden)

    Sakeenabi Basha

    2016-01-01

    Full Text Available Context: Enamel hypoplasia is a defect caused by disturbances during enamel formation. These defects in the enamel present important clinical significance as they predispose a tooth to dental caries. Aim: The aim of this study was to assess the longitudinal relationships between enamel hypoplasia and caries experience of primary second molars and permanent first molars. Materials and Methods: The study sample consisted of 765 subjects who underwent dental examinations at both ages 6 and 9 by the calibrated examiner. Primary second molars and permanent first molars were scored for the presence of enamel hypoplasia for each participant. Caries presence and number of decayed and filled surfaces (dfs and DFS were determined at ages 6 and 9. The relationships between enamel hypoplasia and caries experience were assessed using multivariable regression models. Results: At the tooth level, 2.8% and 3.5% of children had hypoplasia on primary second molars and permanent first molars respectively. Multivariable logistic regression analyses showed that children with enamel hypoplasia were at a significantly higher risk of caries at both ages 6 (odds ratio, OR = 5.27 for primary second molars and OR = 3.21 for permanent first molars and age 9 (OR = 3.45 for primary second molars and OR = 4.57 for permanent first molars, and that a statistically significant association was seen with caries incidence (OR = 2.08 for primary second molars and OR = 2.87 for permanent first molars. Conclusion: Enamel hypoplasia appears to be a significant risk factor for caries in both primary second molars and permanent first molars and should be considered in caries risk assessment.

  17. Cortical hypoplasia and ventriculomegaly of p73-deficient mice: Developmental and adult analysis.

    Science.gov (United States)

    Medina-Bolívar, Carolina; González-Arnay, Emilio; Talos, Flaminia; González-Gómez, Miriam; Moll, Ute M; Meyer, Gundela

    2014-08-01

    Trp73, a member of the p53 gene family, plays a crucial role in neural development. We describe two main phenotypic variants of p73 deficiency in the brain, a severe one characterized by massive apoptosis in the cortex leading to early postnatal death and a milder, non-/low-apoptosis one in which 50% of pups may reach adulthood using an intensive-care breeding protocol. Both variants display the core triad of p73 deficiency: cortical hypoplasia, hippocampal malformations, and ventriculomegaly. We studied the development of the neocortex in p73 KO mice from early embryonic life into advanced age (25 months). Already at E14.5, the incipient cortical plate of the p73 KO brains showed a reduced width. Examination of adult neocortex revealed a generalized, nonprogressive reduction by 10-20%. Area-specific architectonic landmarks and lamination were preserved in all cortical areas. The surviving adult animals had moderate ventricular distension, whereas pups of the early lethal phenotypic variant showed severe ventriculomegaly. Ependymal cells of wild-type ventricles strongly express p73 and are particularly vulnerable to p73 deficiency. Ependymal denudation by apoptosis and reduction of ependymal cilia were already evident in young mice, with complete absence of cilia in older animals. Loss of p73 function in the ependyma may thus be one determining factor for chronic hydrocephalus, which leads to atrophy of subcortical structures (striatum, septum, amygdala). p73 Is thus involved in a variety of CNS activities ranging from embryonic regulation of brain size to the control of cerebrospinal fluid homeostasis in the adult brain via maintenance of the ependyma.

  18. Chest pain in focal musculoskeletal disorders

    DEFF Research Database (Denmark)

    Stochkendahl, Mette Jensen; Christensen, Henrik Wulff

    2010-01-01

    overlapping conditions and syndromes of focal disorders, including Tietze syndrome, costochondritis, chest wall syndrome, muscle tenderness, slipping rib, cervical angina, and segmental dysfunction of the cervical and thoracic spine, have been reported to cause pain. For most of these syndromes, evidence...

  19. Focal adhesions and cell-matrix interactions

    DEFF Research Database (Denmark)

    Woods, A; Couchman, J R

    1988-01-01

    Focal adhesions are areas of cell surfaces where specializations of cytoskeletal, membrane and extracellular components combine to produce stable cell-matrix interactions. The morphology of these adhesions and the components identified in them are discussed together with possible mechanisms of th...

  20. Optical interconnections to focal plane arrays

    Energy Technology Data Exchange (ETDEWEB)

    Rienstra, J.L.; Hinckley, M.K.

    2000-11-01

    The authors have successfully demonstrated an optical data interconnection from the output of a focal plane array to the downstream data acquisition electronics. The demonstrated approach included a continuous wave laser beam directed at a multiple quantum well reflectance modulator connected to the focal plane array analog output. The output waveform from the optical interconnect was observed on an oscilloscope to be a replica of the input signal. They fed the output of the optical data link to the same data acquisition system used to characterize focal plane array performance. Measurements of the signal to noise ratio at the input and output of the optical interconnection showed that the signal to noise ratio was reduced by a factor of 10 or more. Analysis of the noise and link gain showed that the primary contributors to the additional noise were laser intensity noise and photodetector receiver noise. Subsequent efforts should be able to reduce these noise sources considerably and should result in substantially improved signal to noise performance. They also observed significant photocurrent generation in the reflectance modulator that imposes a current load on the focal plane array output amplifier. This current loading is an issue with the demonstrated approach because it tends to negate the power saving feature of the reflectance modulator interconnection concept.

  1. Ketogenic Diet for Epilepsy and Focal Malformation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-09-01

    Full Text Available The efficacy and long-term treatment outcome of a classic ketogenic diet (KD addon treatment (4:1 lipid/nonlipid ratio, without initial fasting and fluid restriction were evaluated retrospectively in 47 children with intractable epilepsy and focal malformation of cortical development, in a study at Severance Children’s and Sanggye Park Hospitals, Seoul, Korea.

  2. Focal adhesions and assessment of cytotoxicity

    NARCIS (Netherlands)

    van Kooten, TG; Klein, CL; Wagner, M; Kirkpatrick, CJ

    1999-01-01

    Focal adhesions are highly ordered assemblies of transmembrane receptors, extracellular matrix proteins, and a large number of cytoplasmic proteins, including structural proteins, as well as tyrosine kinases, phosphatases, and their substrates. They are now accepted as a prime component of signal tr

  3. MTI Focal Plane Assembly Design and Performance

    Energy Technology Data Exchange (ETDEWEB)

    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.

  4. [Focal epithelial hyperplasia. An unusual clinical aspect].

    Science.gov (United States)

    Bodokh, I; Lacour, J P; Rainero, C; Orth, G; Perrin, C; Hoffman, P; Santini, J; Ortonne, J P

    1993-01-01

    We report a case of focal epithelial hyperplasia in a child born in France of Algerian parents. The clinical appearance was unusual in that certain lesions were verrucous and pediculate. A virological study revealed the presence of papillomavirus 32, one of the two types of HPV specifically associated with this entity.

  5. Atypical focal nodular hyperplasia of the liver

    Institute of Scientific and Technical Information of China (English)

    Muhammad Rizwan Khan; Taimur Saleem; Tanveer Ul Haq; Kanwal Aftab

    2011-01-01

    BACKGROUND: Focal nodular hyperplasia, a benign hepatic tumor, is usually asymptomatic. However, rarely the entity can cause symptoms, mandating intervention. METHOD: We present a case of focal nodular hyperplasia of the liver, which caused a considerable diagnostic dilemma due to its atypical presentation. RESULTS: A 29-year-old woman presented with a 15-year history of a progressively increasing mass in the right upper quadrant which was associated with pain and emesis. Examination showed a firm, mobile mass palpable below the right subcostal margin. A computed tomography scan of the abdomen showed an exophytic mass arising from hepatic segments III and IVb. Trucut biopsy of the hepatic mass was equivocal. Angiography showed a vascular tumor that was supplied by a tortuous branch of the proper hepatic artery. Surgical intervention for removal of the mass was undertaken. Intra-operatively, two large discrete tumors were found and completely resected. Histopathological examination showed features consistent with focal nodular hyperplasia. CONCLUSION: This description of an unusual case of focal nodular hyperplasia of the liver highlights the point that the diagnosis of otherwise benign hepatic tumors may be difficult despite extensive work-up in some cases.

  6. Pure Gerstmann's syndrome from a focal lesion.

    Science.gov (United States)

    Roeltgen, D P; Sevush, S; Heilman, K M

    1983-01-01

    It is controversial whether a focal lesion can specifically induce Gerstmann's syndrome (dyscalculia, left-right disorientation, finger agnosia, and agraphia). Also, Gerstmann's tetrad has been attributed to other cerebral symptoms, particularly aphasia. We examined a patient who had all four symptoms of Gerstmann's syndrome, without other symptoms or signs, and who had a discrete left parietal lesion.

  7. Laser Dazzling of Focal Plane Array Cameras

    NARCIS (Netherlands)

    Schleijpen, H.M.A.; Dimmeler, A.; Eberle, B; Heuvel, J.C. van den; Mieremet, A.L.; Bekman, H.H.P.T.; Mellier, B.

    2007-01-01

    Laser countermeasures against infrared focal plane array cameras aim to saturate the full camera image. In this paper we will discuss the results of dazzling experiments performed with MWIR lasers. In the “low energy” pulse regime we observe an increasing saturated area with increasing power. The si

  8. Embryonic dermal condensation and adult dermal papilla induce hair follicles in adult glabrous epidermis through different mechanisms

    OpenAIRE

    2006-01-01

    Hair induction in the adult glabrous epidermis by the embryonic dermis was compared with that by the adult dermis. Recombinant skin, composed of the adult sole epidermis and the embryonic dermis containing dermal condensations (DC), was transplanted onto the back of nude mice. The epidermis of transplants formed hairs. Histology on the induction process demonstrated the formation of placode-like tissues, indicating that the transplant produces hair follicles through a mechanism similar to tha...

  9. Acute and subchronic dermal toxicity of nanosilver in guinea pig

    Directory of Open Access Journals (Sweden)

    Arbabi Bidgoli S

    2011-04-01

    Full Text Available M Korani1, SM Rezayat1,2,4, K Gilani3, S Arbabi Bidgoli4, S Adeli11Department of Pharmacology, Faculty of Medicine, Tehran University of Medical Sciences; 2Department of Nanotechnology, Faculty of Advanced Sciences and Technology in Medicine, Tehran University of Medical Sciences; 3Department of Pharmaceutics, Faculty of Pharmacy, Tehran University of Medical Sciences; 4Department of Toxicology & Pharmacology, Faculty of Pharmacy, Pharmaceutical Sciences Branch, Islamic Azad University (IAUPS, Tehran, IranAbstract: Silver has been used as an antimicrobial agent for a long time in different forms, but silver nanoparticles (nanosilver have recently been recognized as potent antimicrobial agents. Although nanosilver is finding diverse medical applications such as silver-based dressings and silver-coated medical devices, its dermal and systemic toxicity via dermal use has not yet been identified. In this study, we analyzed the potential toxicity of colloidal nanosilver in acute and subchronic guinea pigs. Before toxicity assessments, the size of colloidal nanosilver was recorded in sizes <100 nm by X-ray diffraction and transmission electron microscopy. For toxicological assessments, male guinea pigs weighing 350 to 400 g were exposed to two different concentrations of nanosilver (1000 and 10,000 µg/mL in an acute study and three concentrations of nanosilver (100, 1000, and 10,000 µg/mL in a subchronic study. Toxic responses were assessed by clinical and histopathologic parameters. In all experimental animals the sites of exposure were scored for any type of dermal toxicity and compared with negative control and positive control groups. In autopsy studies during the acute test, no significant changes in organ weight or major macroscopic changes were detected, but dose-dependent histopathologic abnormalities were seen in skin, liver, and spleen of all test groups. In addition, experimental animals subjected to subchronic tests showed greater

  10. Significant chemical burns associated with dermal exposure to laundry pod detergent.

    Science.gov (United States)

    Russell, Jason L; Wiles, Devin A; Kenney, Brian; Spiller, Henry A

    2014-09-01

    Concentrated laundry pods have been reported to cause significant clinical effects including oropharyngeal burns and respiratory distress requiring intubation. Dermal burns have been reported, but no incidents of serious isolated dermal injury have been published. We report a case of significant, isolated dermal injury as a result of dermal exposure to a concentrated laundry detergent pod. Total body surface area partial thickness burns in this case were estimated at approximately 2 % with an additional 4-5 % of total body surface area (TBSA) displaying superficial burns/chemical dermatitis. Health-care providers should be aware of this complication and should perform thorough dermal decontamination in the event of an exposure. Parents should be educated regarding the dangers associated with dermal exposure to laundry pod compounds and the need to secure these items away from children as well as proper decontamination techniques should an exposure occur.

  11. Long-Term Followup of Dermal Substitution with Acellular Dermal Implant in Burns and Postburn Scar Corrections

    Directory of Open Access Journals (Sweden)

    I. Juhasz

    2010-01-01

    Full Text Available Full-thickness burn and other types of deep skin loss will result in scar formation. For at least partial replacement of the lost dermal layer, there are several options to use biotechnologically derived extracellular matrix components or tissue scaffolds of cadaver skin origin. In a survey, we have collected data on 18 pts who have previously received acellular dermal implant Alloderm. The age of these patients at the injury varied between 16 months and 84 years. The average area of the implants was 185 cm2. Among those, 15 implant sites of 14 patients were assessed at an average of 50 months after surgery. The scar function was assessed by using the modified Vancouver Scar Scale. We have found that the overall scar quality and function was significantly better over the implanted areas than over the surrounding skin. Also these areas received a better score for scar height and pliability. Our findings suggest that acellular dermal implants are especially useful tools in the treatment of full-thickness burns as well as postburn scar contractures.

  12. A TRILAYER DERMAL EQUIVALENT CONTAINING SILVER NANOPARTICLES WITH ENHANCED ANTIBACTERIAL PROPERTY

    Institute of Scientific and Technical Information of China (English)

    马列; 高长有

    2009-01-01

    A dermal equivalent having a trilayered structure was designed by combining a silver nanoparticles incorporated chitosan film with a bilayer collagen-chitosan/silicon membrane dermal equivalent(BDE).The silver nanoparticles prepared at different conditions were characterized by UV-Vis and transmission electron microscopy(TEM).The macroscopic sharp and the microstructure of the trilayer dermal equivalent(TDE) were also studied.Then,the in vitro antibacterial property of TDE was evaluated by the antibacter...

  13. Differences between scar and dermal cultured fibroblasts derived from a patient with recurrent abdominal incision wound herniation.

    Science.gov (United States)

    Boemi, L; Allison, G M; Graham, W P; Krummel, T M; Ehrlich, H P

    1999-10-01

    Fibroblasts were derived from dermis and scar of a 47-year-old white man with a recurrent incisional hernia as a result of fractured ribs. The scar was thin and stretched, suggesting a defect in the maturation of granulation tissue. After surgical repair, biopsy specimens of discarded scar and skin were used to generate fibroblast cell lines. Fibroblasts maintained in medium containing 10% fetal bovine serum and antibiotic were studied between their third and eighth passage. By phase contrast microscopy, no structural differences were obvious, but it was noted that to pass scar fibroblasts, a more aggressive trypsin regimen was required. Immunohistologic and Western blot analysis of patient scar fibroblasts showed (1) more a smooth muscle actin within stress fibers, (2) increased expression of the vitronectin integrin receptor alpha(v) (CD 51), and (3) reduced expression of the collagen integrin receptor alpha2 (CD 49b). The expression of vinculin from focal adhesions or a tubulin from microtubules was the same among cell lines. Contractions of scar and dermal fibroblast-populated collagen lattice were compared. At 24 hours, contractions were 69 percent with newborn fibroblasts (normal); 68 percent for patient dermal fibroblasts; and only 48 percent for patient scar fibroblasts. The retarded contraction of scar fibroblast-populated collagen lattice was significant (p > or = 0.002). Myosin ATPase activity, critical for lattice contraction, and cell migration were equivalent among all cell lines. A plausible mechanism for the retardation of scar lattice contraction is disruption of fibroblasts and collagen interactions, for which the attachment of cells to collagen is altered. It is proposed that either the decrease in the expression of collagen integrin receptor alpha2 (CD 49b), an increase in the expression of the vitronectin receptor alpha(v) (CD 51), or a combination of both is responsible for disruption of collagen fibroblast interactions.

  14. Sox2-positive dermal papilla cells specify hair follicle type in mammalian epidermis.

    Science.gov (United States)

    Driskell, Ryan R; Giangreco, Adam; Jensen, Kim B; Mulder, Klaas W; Watt, Fiona M

    2009-08-01

    The dermal papilla comprises the specialised mesenchymal cells at the base of the hair follicle. Communication between dermal papilla cells and the overlying epithelium is essential for differentiation of the hair follicle lineages. We report that Sox2 is expressed in all dermal papillae at E16.5, but from E18.5 onwards expression is confined to a subset of dermal papillae. In postnatal skin, Sox2 is only expressed in the dermal papillae of guard/awl/auchene follicles, whereas CD133 is expressed both in guard/awl/auchene and in zigzag dermal papillae. Using transgenic mice that express GFP under the control of the Sox2 promoter, we isolated Sox2(+) (GFP(+)) CD133(+) cells and compared them with Sox2(-) (GFP(-)) CD133(+) dermal papilla cells. In addition to the 'core' dermal papilla gene signature, each subpopulation expressed distinct sets of genes. GFP(+) CD133(+) cells had upregulated Wnt, FGF and BMP pathways and expressed neural crest markers. In GFP(-) CD133(+) cells, the hedgehog, IGF, Notch and integrin pathways were prominent. In skin reconstitution assays, hair follicles failed to form when dermis was depleted of both GFP(+) CD133(+) and GFP(-) CD133(+) cells. In the absence of GFP(+) CD133(+) cells, awl/auchene hairs failed to form and only zigzag hairs were found. We have thus demonstrated a previously unrecognised heterogeneity in dermal papilla cells and shown that Sox2-positive cells specify particular hair follicle types.

  15. Ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia.

    Science.gov (United States)

    Malik, Rabiya; Zilberman, Mark V; Tang, Liwen; Miller, Susan; Pandian, Natesa G

    2015-03-01

    Ectopia cordis, defined as partial or complete displacement of the heart outside of the thoracic cavity, is a rare congenital malformation. If not surgically corrected during the early years of life, ectopia cordis can prove to be a fatal abnormality. However, due to the presence of multiple intracardiac and extracardiac malformations, a corrective surgery might not always be successful. The pathology of ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia is discussed, highlighting the complexities involved in such a rare disorder.

  16. Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-07-01

    Full Text Available We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing. Associated anomalies include abnormal facial features, bilateral finger anomalies, bilateral talipes equinovarus, kyphoscoliosis, hypotonia, high frequency hearing loss. Bilateral macular hyperpigmentation was detected in our patient on fundus examination which was not reported previously in Moebius syndrome cases. In addition there is hypoplasia of the right pectoralis major muscle.

  17. Hemorrhagc focal nodular hyperplasia in young men: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin Hyun; Kwon, Hee Jin; Cho, Jin Han; Oh, Jong Yeong; Nam, Kyung Jin; Roh, Young Hoon; Jeong, Jin Sook [College of Medicine, Dong-A University, Busan (Korea, Republic of)

    2014-04-15

    In general, focal nodular hyperplasia is a hepatic lesion that most frequently affects the healthy women of reproductive age. Focal nodular hyperplasia lesions have a benign natural course; the majority of the cases remain asymptomatic and complications are rare. Spontaneous hemorrhage of focal nodular hyperplasia is a rare disease, and the hemorrhage in young men is even more uncommon. We report a rare case of spontaneous hemorrhage of focal nodular hyperplasia in a 19-year-old man.

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

    OpenAIRE

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

    2011-01-01

    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 surfa...

  19. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome

    Directory of Open Access Journals (Sweden)

    Tint G Stephen

    2004-02-01

    Full Text Available Abstract Background Normal post-squalene cholesterol biosynthesis is important for mammalian embryonic development. Neonatal mice lacking functional dehydrocholesterol Δ7-reductase (Dhcr7, a model for the human disease of Smith-Lemli-Opitz syndrome, die within 24 hours of birth. Although they have a number of biochemical and structural abnormalities, one cause of death is from apparent respiratory failure due to developmental pulmonary abnormalities. Results In this study, we characterized further the role of cholesterol deficiency in lung development of these mice. Significant growth retardation, beginning at E14.5~E16.5, was observed in Dhcr7-/- embryos. Normal lobation but smaller lungs with a significant decrease in lung-to-body weight ratio was noted in Dhcr7-/- embryos, compared to controls. Lung branching morphogenesis was comparable between Dhcr7-/- and controls at early stages, but delayed saccular development was visible in all Dhcr7-/- embryos from E17.5 onwards. Impaired pre-alveolar development of varying severity, inhibited cell proliferation, delayed differentiation of type I alveolar epithelial cells (AECs and delayed vascular development were all evident in knockout lungs. Differentiation of type II AECs was apparently normal as judged by surfactant protein (SP mRNAs and SP-C immunostaining. A significant amount of cholesterol was detectable in knockout lungs, implicating some maternal transfer of cholesterol. No significant differences of the spatial-temporal localization of sonic hedgehog (Shh or its downstream targets by immunohistochemistry were detected between knockout and wild-type lungs and Shh autoprocessing occurred normally in tissues from Dhcr7-/- embryos. Conclusion Our data indicated that cholesterol deficiency caused by Dhcr7 null was associated with a distinct lung saccular hypoplasia, characterized by failure to terminally differentiate alveolar sacs, a delayed differentiation of type I AECs and an immature

  20. Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development

    Directory of Open Access Journals (Sweden)

    Vitalis Tania

    2009-03-01

    population that is thought responsible for the cerebellar hypoplasia in Down syndrome, a global destabilization of gene expression was not detected. Altogether these results strongly suggest that the three-copy genes are directly responsible for the phenotype present in cerebellum. We provide here a short list of candidate genes.

  1. Bilateral mandibular distraction in micrognathism or hypoplasia of mandible, hazrat fatemeh hospital

    Institute of Scientific and Technical Information of China (English)

    Mohammad-Esmaiil Hassani; Hamid Karimi; Hosein Hassani; Ali Hassani

    2014-01-01

    Objective:To determine the results ofBilateralDistractionOsteogenesis(DO) versus traditional methods in treatment of micrognathia.Methods:During6 years we had67 patients with micrognathia.In groupA, randomly35 were treated with traditional methods(Saggital osteotomy and/or bone grafts) and groupB32 cases were treated withBilateralExternalDistraction Osteogenesis.Follow up was36+/-6 months.X-Ray ,CT scan and cast modelling were done for all of the patients.SNA,SNB angles were measured in cephalograms.The patients were examined after one, two, three, six,12 months for any complications and signs of bone resorption and relapse.Bony and soft tissue advancements were measured and compared with each other. Results:During6 years we had67 patients with classII malocclusion.MeanSNA angle in group A was80.8(80-81.5) and80.9(80-82) in groupB.MeanSNB angle in groupA was77.6(76.5-78) and77.4(76.5-78.5).After treatment meanSNB in groupA was79.1 and the difference was significant comparing to pre-op measurement(P<0.005).MeanSNB in groupB after treatment was 79.2 which was significantly different comparing withSNB angle before surgery.The meanSNA in both group were not statistically and significantly different.The meanSNB after surgery in both group were not statistically and significantly different.MeanMandibular advancement in groupA was11.9 mm(7.5-18 mm) and groupB withDO treatment was12.1 mm(8-19 mm) which was not significantly different .The patient in groupA evaluate the surgical results as excellent(60%) and good(28.5%).The patient in groupB evaluate the results as excellent(78.1%) and good(15.6%). Conclusion:TheBilateralDistractionOseogenesis method can bring forwards the retruded mandible effectively and its results has no difference with older methods.It is an effective and reliable procedure for hypoplasia ofMandible and the results are comparable with older methods.

  2. Likelihood analysis of earthquake focal mechanism distributions

    CERN Document Server

    Kagan, Y Y

    2014-01-01

    In our paper published earlier we discussed forecasts of earthquake focal mechanism and ways to test the forecast efficiency. Several verification methods were proposed, but they were based on ad-hoc, empirical assumptions, thus their performance is questionable. In this work we apply a conventional likelihood method to measure a skill of forecast. The advantage of such an approach is that earthquake rate prediction can in principle be adequately combined with focal mechanism forecast, if both are based on the likelihood scores, resulting in a general forecast optimization. To calculate the likelihood score we need to compare actual forecasts or occurrences of predicted events with the null hypothesis that the mechanism's 3-D orientation is random. For double-couple source orientation the random probability distribution function is not uniform, which complicates the calculation of the likelihood value. To better understand the resulting complexities we calculate the information (likelihood) score for two rota...

  3. Dynamic reactive astrocytes after focal ischemia

    Institute of Scientific and Technical Information of China (English)

    Shinghua Ding

    2014-01-01

    Astrocytes are specialized and most numerous glial cell type in the central nervous system and play important roles in physiology. Astrocytes are also critically involved in many neural disor-ders including focal ischemic stroke, a leading cause of brain injury and human death. One of the prominent pathological features of focal ischemic stroke is reactive astrogliosis and glial scar for-mation associated with morphological changes and proliferation. This review paper discusses the recent advances in spatial and temporal dynamics of morphology and proliferation of reactive astrocytes after ischemic stroke based on results from experimental animal studies. As reactive astrocytes exhibit stem cell-like properties, knowledge of dynamics of reactive astrocytes and glial scar formation will provide important insights for astrocyte-based cell therapy in stroke.

  4. Membership Functions for Fuzzy Focal Elements

    Directory of Open Access Journals (Sweden)

    Porębski Sebastian

    2016-09-01

    Full Text Available The paper presents a study on data-driven diagnostic rules, which are easy to interpret by human experts. To this end, the Dempster-Shafer theory extended for fuzzy focal elements is used. Premises of the rules (fuzzy focal elements are provided by membership functions which shapes are changing according to input symptoms. The main aim of the present study is to evaluate common membership function shapes and to introduce a rule elimination algorithm. Proposed methods are first illustrated with the popular Iris data set. Next experiments with five medical benchmark databases are performed. Results of the experiments show that various membership function shapes provide different inference efficiency but the extracted rule sets are close to each other. Thus indications for determining rules with possible heuristic interpretation can be formulated.

  5. Focal Plane Image Assembly of Subpixel

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    This paper describes the scanning assembly principle and construction of scanning assembly sample.The factors that affect assembly accuracy are analyzed.There are two steps in CCD focal plane scanning assembly.The first is rough assembly,and the second is accurate assembly.In this paper,the moiré fringe is introduced in judging assembly accuracy directly and accurately.The equation for optical transmission characteristics of CCD Moiré fringes is presented.The measurement of Moiré fringes can be completed when some conditions are satisfied.2D-assembly error can be obtained by using digital correlation filtering technique.Finally,the result of focal plane scanning assembly is presented.The result is in good accordance with theory.

  6. Bilateral iliac vein thrombosis after seat belt-related trauma revealing hypoplasia of the inferior vena cava--a case report.

    Science.gov (United States)

    Granel, Brigitte; Serratrice, Jacques; Bartoli, Jean Michel; Disdier, Patrick; Piquet, Philippe; Weiller, Pierre-Jean

    2002-01-01

    Hypoplasia of the inferior vena cava can be revealed by a deep venous thrombosis of the lower limbs. Associated precipitating factors or clotting defects leading to thrombosis are frequently observed. A case of bilateral iliac veins thrombosis occurring after a motor vehicle accident with seat belt injury is reported, revealing hypoplasia of the inferior vena cava. This young man was totally asymptomatic up to the crash, and did not have coagulation abnormalities. The patient had a very good outcome after anticoagulant treatment with complete regression of venous thromboses. Hypoplasia of the inferior vena cava was a predisposing anatomic abnormality that led to thrombosis, but seat belt trauma was probably the precipitating factor. This observation should be kept in mind in the evaluation of a deep venous lower limb thrombosis.

  7. Dermal echogenicity: a biological indicator of individual cumulative UVR exposure?

    Science.gov (United States)

    Sandby-Møller, Jane; Thieden, Elisabeth; Philipsen, Peter Alshede; Schmidt, Grethe; Wulf, Hans Christian

    2004-04-01

    Dermal alterations due to chronic UVR exposure may influence dermal ultrasound echogenicity, and a subepidermal low-echogenic band has been proposed as a marker of photoaging. The aim of this study was to determine whether dermal echogenicity could be used as a biological UVR dosimeter. We included 201 subjects (138 healthy volunteers, 31 patients with basal cell carcinoma, and 32 patients with cutaneous malignant melanoma). The number of low-echogenic pixels in the upper dermis relative to the lower dermis (LEP(u/l)) was determined in sun-exposed and sun-protected skin. Individual UVR exposure data were collected retrospectively and prospectively using a questionnaire and electronic personal UVR dosimeters. Age, but not sex, skin type, constitutive pigmentation or smoking, correlated significantly with LEP(u/l) at all body sites. Different measures of individual UVR exposure were significantly positively correlated with LEP(u/l) (together r(2)=0.39, dorsal forearm), but separately the correlations were poor ( r(2)=0.04-0.19). LEP(u/l) was higher in the dorsal forearm in a group with high UVR exposure compared to a low-exposure group ( P=0.007). Skin cancer patients in general had a lower LEP(u/l) than healthy subjects. The results indicate that the age-related increase in LEP(u/l) might be attributed mainly to UVR exposure, and that the methods used to obtain the UVR exposure data might not be sufficiently sensitive or specific. Genetic factors might also influence LEP(u/l). We consider LEP(u/l) to be a sensitive and specific marker for UVR exposure at the dorsal aspect of the forearm in healthy subjects.

  8. Abdominal wall repair with human acellular dermal autograft

    Directory of Open Access Journals (Sweden)

    Roel E. Genders

    2011-12-01

    Full Text Available Repair of abdominal wall defects in the presence of contamination or infection is a significant problem. The loss of tissue warrants enforcement of the abdominal wall, preferably by autologous material. However, autologous repair often requires extensive surgery. This paper presents a review of available literature of placement of an acellular human dermis to repair an abdominal fascia defect, in contaminated as well as in non-contaminated surgical fields. It is illustrated with a case report that describes the successful reconstruction of an infected abdominal wall defect with a human acellular dermis allograft. A systematic literature review was undertaken with searches performed in the Pubmed and Cochrane databases for the period up till March 2009, using the search terms Alloderm [Substance Name], Hernia [Mesh] and the key words acellular dermis, acellular dermal matrix, human acellular dermal allograft and abdominal wall defect. To assess methodological quality, each article was subjected to a modification of the methodological index for non-randomized studies (MINORS according to Slim et al. Two items from the original index were not included because none of the studies selected had an unbiased assessment of the study end points and in none of the studies was a prospective calculation of the study size performed. Seventeen studies were included in the review. Data were extracted regarding study design, number of patients, surgical technique, followup period, contaminated or non-contaminated area of the fascia defect, mortality and morbidity (hemorrhage, seroma, wound dehiscence, infection of the operative procedure, the longterm results (removal of the graft, reherniation and bulging and level of evidencey. A total of 169 short-term complications and 151 longterm complications occurred after 643 surgical procedures reconstructing both contaminated and clean abdominal wall defects by implantation of an HADA. Human acellular dermal allograft

  9. Focal epileptic seizures mimicking sleep paralysis.

    Science.gov (United States)

    Galimberti, Carlo Andrea; Ossola, Maria; Colnaghi, Silvia; Arbasino, Carla

    2009-03-01

    Sleep paralysis (SP) is a common parasomnia. The diagnostic criteria for SP, as reported in the International Classification of Sleep Disorders, are essentially clinical, as electroencephalography (EEG)-polysomnography (PSG) is not mandatory. We describe a subject whose sleep-related events fulfilled the diagnostic criteria for SP, even though her visual hallucinations were elementary, repetitive and stereotyped, thus differing from those usually reported by patients with SP. Video/EEG-PSG documented the focal epileptic nature of the SP-like episodes.

  10. Syndecan-4 and focal adhesion function

    DEFF Research Database (Denmark)

    Woods, A; Couchman, J R

    2001-01-01

    Two groups have now reported the viability of mice that lack syndecan-4. These mice have wound healing/angiogenesis problems, and fibroblasts from these animals differ in adhesion and migration from normal. This is consistent with recent in vitro data indicating a need for signaling via syndecan-4...... for focal adhesion formation, and reports that overexpression of proteins that bind syndecan-4 can modify cell adhesion and migration....

  11. Molecular Mechanisms of Mechanosensitivity in Focal Adhesions

    OpenAIRE

    2016-01-01

    Physical environment guides tissue regeneration and morphology in both health and disease. In the past three decades, several experiments illustrated that mechanical cues are captured and transduced to biochemical signals in the cellular level (mechanotransduction) mediated by cell adhesion. Cells adhere to their microenvironment through large protein assemblies known as focal adhesions that directly couple intra- and extra-cellular matrices and play a critical role in many vital cell functio...

  12. Staring Focal Plane Array System Modeling

    Science.gov (United States)

    1989-12-01

    mod- eling. This chapter presents background material needed to understand basic Focal Plane Array technology, the linear systems theory commonly... Linear systems theory is commonly used to assess the performance of imaging systems by describing the system’s response to different spatial frequencies...account for the nonlinearities (edge enhancement, adaptive spatial filtering) intro- duced by the eye/brain is not clear. How far can linear systems theory and

  13. Characterization of LIL laser UV focal spot

    Energy Technology Data Exchange (ETDEWEB)

    Mangeant, M.; Dubois, J.L.; Behar, G.; Arroyo, P.; Durand, V.; Lahonde, C. [CEA - Centre d' Etudes Scientifiques et Techniques d' Aquitaine, CESTA/DLP, 33 - Le Barp (France)

    2006-06-15

    One way to get the fusion of hydrogen in laboratory consists in heating and compressing a DT fuel capsule by using a laser. To reach this aim requires a new generation of high power laser facility. Cea (French board for atomic energy) is developing for this purpose a new 240 laser line facility, the LMJ facility. The LIL which is the prototype of four LMJ laser lines is operational now. In order to confirm the technical choices, a systematic characterization of LIL was carried out. A particular effort has been provided to measure the 3{omega} high energy focal spot (1.5 kJ/700 ps and 5 ns for one beam) and the synchronization of laser beams onto the target, which are key issues for the plasma production. An experimental device, SAT-3{omega} (a 3{omega} laser focal spot analysis) has been designed to perform these measures. That diagnostic which is located at the end of the laser lines delivered its first results during the 2004 quadruplet qualification campaigns. The near field imaging showed no diaphony and vignetting. Low power spots allowed us to control we had no ghost. The energy measurement quality showed the photometric transfer function was perfectly known. Our caustic image are given with an average dynamic range of 800, a spatial resolution of 10 {mu}m and diameter accuracy about 1% for 50% and 3% for 90% of encircled energy. The high energy focal spot diameters are in agreement with low and very low energy diameters. The phase plate and 14 GHz effects are similar to what we had expected. For a laser shot completed with a continuous phase plate at 14 GHz, and for an energy level of 1.5 kJ per beam at 351 nm, the focal beam diameter at 3% of the peak level is (875 {+-} 45) {mu}m.

  14. FOCAL EPITHELIAL HYPERPLASIA: HECK’S DISEASE

    OpenAIRE

    Brzeziński Piotr

    2010-01-01

    Heck's disease (focal epithelial hyperplasia) (FEH) is clinically characterized by multiple circumscribed, soft elevated nodules of the oral mucosa. Papules and plaques are usually the color of normal mucosa, but may be pale or, rarely, white. Disease may persist for years, producing a significant reduction in quality of life. Lessions may be located in the area of mucous membranes of the lips, cheeks and tongue. It is believed that the two virus types are responsible for the FEH, are: HPV 1...

  15. Extensive focal epithelial hyperplasia: case report.

    Science.gov (United States)

    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.

  16. Focal epithelial hyperplasia in a Turkish family.

    Science.gov (United States)

    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.

  17. Dynamics of Focal Fibrillation Waves during Persistent Atrial Fibrillation.

    Science.gov (United States)

    Lanters, Eva A H; Allessie, Maurits A; DE Groot, Natasja M S

    2016-04-01

    The incidence and appearance of focal fibrillation waves on the right and left atrial epicardial surface were visualized during 10 seconds of persistent atrial fibrillation in a 71-year-old woman with valvular heart disease. The frequent, nonrepetitive, widespread, and capricious distribution of focal waves suggests that transmural conduction of fibrillation waves is most likely the mechanism underlying focal fibrillation waves.

  18. Sonographic features of focal Hashimoto's thyroiditis.

    Science.gov (United States)

    Fu, Xian-shui; Li, Zhi-qiang; Zhang, Hua-bin; Wang, Jin-rui

    2014-06-01

    To evaluate the diagnostic values of gray-scale and color Doppler ultrasound in the diagnosis of focal Hashimoto's thyroiditis (FHT). The gray-scale and colour Doppler ultrasound data of 120 patients with histopathologically confirmed FHT were retrospectively studied. The background of thyroid parenchyma was subjectively evaluated as absence or presence of diffuse Hashimoto's thyroiditis. The vascular types of thyroid nodules were determined as follows: hypovascularity, marked internal flow, marked peripheral flow, and focal thyroid inferno. Among all 120 nodules, 71 (59.2%) were located in normal thyroid parenchyma, 49 (40.8%) in the background of diffuse Hashimoto's thyroiditis. In the normal thyroid background, hypoechoic nodules accounted for 85.9% (61/71), and only 14.1% (10/71)nodules were isoechoic or hyperechoic. However, in the background of diffuse Hashimoto's thyroiditis, 40.8% were hypoechoic and 59.2% were isoechoic or hyperechoic. The difference was statistically significant (Pinferno accounted for 45 %, 25.9%, 20.8%, and 8.3%, respectively. The "focal inferno" is a relative specific color Doppler feature of FHT.

  19. Focal Conic Flower Textures at Curved Interfaces

    Directory of Open Access Journals (Sweden)

    Daniel A. Beller

    2013-12-01

    Full Text Available Focal conic domains (FCDs in smectic-A liquid crystals have drawn much attention, both for their exquisitely structured internal form and for their ability to direct the assembly of micromaterials and nanomaterials in a variety of patterns. A key to directing FCD assembly is control over the eccentricity of the domain. Here, we demonstrate a new paradigm for creating spatially varying FCD eccentricity by confining a hybrid-aligned smectic with curved interfaces. In particular, we manipulate interface behavior with colloidal particles in order to experimentally produce two examples of what has recently been dubbed the flower texture [C. Meyer et al., Focal Conic Stacking in Smectic A Liquid Crystals: Smectic Flower and Apollonius Tiling, Materials 2, 499, 2009MATEG91996-194410.3390/ma2020499], where the focal hyperbolæ diverge radially outward from the center of the texture, rather than inward as in the canonical éventail or fan texture. We explain how this unconventional assembly can arise from appropriately curved interfaces. Finally, we present a model for this system that applies the law of corresponding cones, showing how FCDs may be embedded smoothly within a “background texture” of large FCDs and concentric spherical layers, in a manner consistent with the qualitative features of the smectic flower. Such understanding could potentially lead to disruptive liquid-crystal technologies beyond displays, including patterning, smart surfaces, microlens arrays, sensors, and nanomanufacturing.

  20. Smart focal plane technologies for ELT instruments

    Science.gov (United States)

    Cunningham, Colin R.; Ramsay-Howat, Suzanne K.; Garzon, Francisco; Parry, Ian R.; Prieto, Eric; Robertson, David J.; Zamkotsian, Frederic

    2004-07-01

    Smart Focal Planes are devices that enable the efficient sampling of a telescope's focal plane to feed spectroscopic and imaging instruments. Examples are integral field units (fiber and image slicers), cryogenic beam manipulators, and MOEMS (micro-opto-electromechanical systems) such as miniature slit shutters. These technologies are critical in making best use of the current 8m class telescopes for key science goals such as spectroscopic surveys of high redshift galaxies, and will be even more important for Extremely Large Telescope (ELT) instruments. In fact, the density of pixels in an ELT focal plane with several milliarcsecond resolution will mean that sub-sampling of the field will be needed even for imaging. We have proposed a joint European project to develop these technologies, building on expertise from partners in the UK, France, the Netherlands, Spain, Germany and others, and led by the UK. We describe the current status of these technologies, showing how they will contribute to the feasibility and performance of proposed instruments for ELTs, and concentrating on capabilities within Europe. We then outline the proposed future developments, highlighting the technical challenges, such as the difficulties of manufacturing and verifying complex image slicers with thousands of optical surfaces, and building highly reliable cryogenic mechanisms such as pick-off arms, beam steering mirrors and reconfigurble slit mechanisms.

  1. Soft tissue augmentation - Use of hyaluronic acid as dermal filler

    Directory of Open Access Journals (Sweden)

    Vedamurthy Maya

    2004-01-01

    Full Text Available Soft tissue augmentation has revolutionized the treatment of the aging face. It is a technique in which a substance is injected under the skin. The concept of utilizing materials for soft tissue augmentation actually began around 1950 with the use of fluid silicone. Today we have a large armamentarium of implant materials to delay the tell tale signs of aging. Filling has replaced conventional surgery in facial rejuvenation. In this article, the emphasis will be on hyaluronic acid as this substance is easily available in India and ranks among the most widely used dermal fillers.

  2. Dermal exposure from transfer of lubricants and fuels by consumers.

    Science.gov (United States)

    Galea, Karen S; Davis, Alice; Todd, Davis; MacCalman, Laura; McGonagle, Carolyn; Cherrie, John W

    2014-11-01

    Consumer uses of fuels and lubricants in Europe are subject to the Registration, Evaluation, Authorization and restriction of CHemicals (REACH) legislation. Ten volunteers completed a series of exposure situations to simulate filling a vehicle fuel tank with diesel (ES1 Diesel), adding lubricant to a car engine (two situations, one filling point easier to reach (ES2 Easy) than the other (ES3 Hard)) and lubricating a bicycle chain (ES4 Bike). Dermal exposure to the hands and forearms was assessed using a wipe sampling method. A high proportion of samples was less than the limit of detection (ES1=38%, ES3=60%, ES2 and 4, both 78%). In ES1 Diesel, dermal exposure to the hands and forearms ranged from <0.25 μg/cm(2) to 96.21 μg/cm(2). Significantly higher dermal exposure was observed when a lower level of care was taken to complete the task. In ES2 Easy and ES3 Hard, the hand and forearm results ranged from <0.1 μg/cm(2) to 3.33 μg/cm(2) and from <0.1 μg/cm(2) to 3.54 μg/cm(2), respectively. In ES4 Bike, the hand and forearm exposures ranged from <0.35 μg/cm(2) to 5.25 μg/cm(2). Not all volunteers fully complied with the ES4 instructions, thus highlighting that this situation may have more variability in consumer behaviour. The ratio of the amount measured on the hands and forearms to the amount of product handled for ES1 Diesel, ES2 Easy and ES3 Hard was less than 0.0001%, for ES4 Bike it was 0.04%. Mixed effect models showed that the between and within volunteer variations are small for all except ES1 Diesel, where the within volunteer variation was relatively large (likely due to the few high measurements). This study reports dermal exposure measurement data, which will be of value when updating REACH and other exposure assessments for these, and similar, petroleum products.

  3. Dermal tunneling: a proposed treatment for depressed scars*

    Science.gov (United States)

    Lima, Emerson Vasconcelos de Andrade

    2016-01-01

    Depressed facial scars are still a challenge in medical literature, despite the wide range of proposed treatments. Subcision is a technique that is frequently performed to improve this type of lesions. This article proposes a new method to release depressed scars, reported and named by the author as dermal tunneling. This study presents a simple and didactic manner to perform this method. The results in 17 patients with facial scars were considered promising. Thus, the technique was deemed to be safe and reproducible. PMID:27828658

  4. Effect of microemulsions on cell viability of human dermal fibroblasts

    Science.gov (United States)

    Li, Juyi; Mironava, Tatsiana; Simon, Marcia; Rafailovich, Miriam; Garti, Nissim

    Microemulsions are optically clear, thermostable and isotropic mixture consisting of water, oil and surfactants. Their advantages of ease preparation, spontaneous formation, long-term stability and enhanced solubility of bioactive materials make them great potentials as vehicles in food and pharmaceutical applications. In this study, comparative in vitro cytotoxicity tests were performed to select a best formulation of microemulsion with the least toxicity for human dermal fibroblasts. Three different kinds of oils and six different kinds of surfactants were used to form microemulsions by different ratios. The effect of oil type and surfactant type as well as their proportions on cell proliferation and viability were tested.

  5. 椎动脉发育不良与后循环缺血性卒中%Vertebral artery hypoplasia and posterior circulation ischemic stroke

    Institute of Scientific and Technical Information of China (English)

    孙增强; 刘明玲; 田兵; 徐蔚海

    2014-01-01

    Vertebral artery hypoplasia is a frequent variation type of vertebral arteries.At present,there is no unified theory about the relationship between vertebral artery hypoplasia and posterior circulation ischemic stroke.The available evidence suggests that vertebral artery hypoplasia may be a precipitating factor for posterior circulation ischemic stroke; particularly other vascular risk factors coexist.This article elaborates the epidemiology of vertebral artery hypoplasia,the clinical manifestation and imaging features of vertebral artery hypoplasia in patients with posterior circulation ischemic stroke,and the possible mechanism of vertebral artery hypoplasia caused posterior circulation ischemic stroke.%椎动脉发育不良是椎动脉的一种常见变异类型.关于椎动脉发育不良与后循环缺血性卒中的关系,目前尚无统一定论.现有的证据提示,椎动脉发育不良可能是后循环缺血性卒中的促发因素,尤其是在并存其他血管危险因素的情况下.文章阐述了椎动脉发育不良的流行病学、椎动脉发育不良患者后循环缺血性卒中的临床表现和影像学特点以及椎动脉发育不良引起后循环缺血性卒中的可能机制.

  6. Restoration of incisal half with edge-up technique using ceramic partial crown in turner′s hypoplasia: A case report

    Directory of Open Access Journals (Sweden)

    Shreya Hegde

    2014-01-01

    Full Text Available This case report describes a rare treatment modality for Turner′s hypoplasia done with a very conservative approach for the esthetic and functional problem of the defect. Diagnosis was made as Turner′s hypoplasia of upper two central incisors with proximal caries. Treatment planning was done after considering many factors such as conservation of tooth structure, esthetics, occlusion and economy. Tooth preparation was done to receive Edge-up, all ceramic partial crowns for both the upper central incisors,using pressable all ceramic material and cemented with resin cement.

  7. Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

    Science.gov (United States)

    Garavelli, Livia; Gargano, Giancarlo; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Melli, Nives; Braibanti, Silvia; Gelmini, Chiara; Forzano, Francesca; Pietrobono, Roberta; Pomponi, Maria Grazia; Andreucci, Elena; Toutain, Annick; Superti-Furga, Andrea; Neri, Giovanni

    2012-09-01

    The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly.

  8. Genotoxic exposure and biological effects in the rubber manufacturing industry. Relevance of the dermal route

    NARCIS (Netherlands)

    Vermeulen, R.

    2001-01-01

    This thesis describes an industry wide survey on genotoxic exposure and biological effects in the rubber manifacturing industry. Chapters are devoted to long-term trends in inhalable and dermal contamination levels, identification of dermal exposure pathways and the assessment of mutagenic

  9. Shh maintains dermal papilla identity and hair morphogenesis via a Noggin-Shh regulatory loop.

    Science.gov (United States)

    Woo, Wei-Meng; Zhen, Hanson H; Oro, Anthony E

    2012-06-01

    During hair follicle morphogenesis, dermal papillae (DPs) function as mesenchymal signaling centers that cross-talk with overlying epithelium to regulate morphogenesis. While the DP regulates hair follicle formation, relatively little is known about the molecular basis of DP formation. The morphogen Sonic hedgehog (Shh) is known for regulating hair follicle epithelial growth, with excessive signaling resulting in basal cell carcinomas. Here, we investigate how dermal-specific Shh signaling contributes to DP formation and hair growth. Using a Cre-lox genetic model and RNAi in hair follicle reconstitution assays, we demonstrate that dermal Smoothened (Smo) loss of function results in the loss of the DP precursor, the dermal condensate, and a stage 2 hair follicle arrest phenotype reminiscent of Shh(-/-) skin. Surprisingly, dermal Smo does not regulate cell survival or epithelial proliferation. Rather, molecular screening and immunostaining studies reveal that dermal Shh signaling controls the expression of a subset of DP-specific signature genes. Using a hairpin/cDNA lentiviral system, we show that overexpression of the Shh-dependent gene Noggin, but not Sox2 or Sox18, can partially rescue the dermal Smo knockdown hair follicle phenotype by increasing the expression of epithelial Shh. Our findings suggest that dermal Shh signaling regulates specific DP signatures to maintain DP maturation while maintaining a reciprocal Shh-Noggin signaling loop to drive hair follicle morphogenesis.

  10. High matrix metalloproteinase levels are associated with dermal graft failure in diabetic foot ulcers.

    Science.gov (United States)

    Izzo, Valentina; Meloni, Marco; Vainieri, Erika; Giurato, Laura; Ruotolo, Valeria; Uccioli, Luigi

    2014-09-01

    The aim of our study is to analyze factors, including matrix metalloproteinase (MMP) levels, that could influence the integration of dermal grafts in diabetic foot ulcers. From September 2012 to September 2013, 35 diabetic patients with IIA lesion (Texas Wound Classification) and an extensive foot tissue loss were considered suitable for dermal graft. Before the enrollment we ensured the best local conditions: adequate blood supply, control of infection, and offloading. The MMP level of each lesion was evaluated blindly before the application of dermal substitutes. At 1-month follow-up, we analyzed the correlation between clinical patient characteristics, local wound features including MMP levels, dermal substitute applied, and the outcome expressed in terms of dermal graft integration. We observed dermal graft integration in 28/35 patients (80% of our population). In multivariate analysis high MMP level was the only negative predictor for dermal graft integration (P < .0007). In addition, we divided the patients into 2 groups according to MMP levels: group 1 with low protease activity (24 patients) and group 2 with elevated protease activity (11 patients). The integration of the dermal graft was 100% in group 1 (n = 24 patients) and 36.4% in group 2 (n = 4patients), P < .0001. According to our data, the evaluation of MMP levels may be useful to choose the right strategy to get the best results in terms of clinical success and cost saving. However, further studies are necessary to confirm these findings.

  11. A new model for preclinical testing of dermal substitutes for human skin reconstruction.

    Science.gov (United States)

    Hartmann-Fritsch, Fabienne; Biedermann, Thomas; Braziulis, Erik; Meuli, Martin; Reichmann, Ernst

    2013-05-01

    Currently, acellular dermal substitutes used for skin reconstruction are usually covered with split-thickness skin grafts. The goal of this study was to develop an animal model in which such dermal substitutes can be tested under standardized conditions using a bioengineered dermo-epidermal skin graft for coverage. Bioengineered grafts consisting of collagen type I hydrogels with incorporated human fibroblasts and human keratinocytes seeded on these gels were produced. Two different dermal substitutes, namely Matriderm(®), and an acellular collagen type I hydrogel, were applied onto full-thickness skin wounds created on the back of immuno-incompetent rats. As control, no dermal substitute was used. As coverage for the dermal substitutes either the bioengineered grafts were used, or, as controls, human split-thickness skin or neonatal rat epidermis were used. Grafts were excised 21 days post-transplantation. Histology and immunofluorescence was performed to investigate survival, epidermis formation, and vascularization of the grafts. The bioengineered grafts survived on all tested dermal substitutes. Epidermis formation and vascularization were comparable to the controls. We could successfully use human bioengineered grafts to test different dermal substitutes. This novel model can be used to investigate newly designed dermal substitutes in detail and in a standardized way.

  12. Dermal exposure assessment to benzene and toluene using charcoal cloth pads

    NARCIS (Netherlands)

    Wendel de Joode, B. van; Tielemans, E.; Vermeulen, R.; Wegh, H.; Kromhout, H.

    2005-01-01

    Charcoal cloth pads have been used to assess volatile chemicals on the skin in a laboratory setting; however, they have not yet been applied to measure dermal exposure in occupational settings. This study aimed at evaluating whether charcoal pads can be used to assess dermal exposure to benzene and

  13. Patterns of Dermal Exposure to Hazardous Substances in European Union Workplaces

    NARCIS (Netherlands)

    Rajan-Sithamparanadarajah, R.; Roff, M.; Delgado, P.; Eriksson, K.; Fransman, W.; Gijsbers, J.H.J.; Hughson, G.; Mäkinen, M.; Hemmen, J.J. van

    2004-01-01

    Workplace dermal exposure assessment is a complex task that aims to understand the dynamic interaction between the skin and the hazardous substances present in the surrounding environment. A European project known as RISKOFDERM gathered dermal exposure data in 85 workplaces (industrial and other typ

  14. Harmonization of future needs for dermal exposure assessment and modeling : a workshop report

    NARCIS (Netherlands)

    Marquart, H.; Maidment, S.; Mcclaflin, J.L.; Fehrenbacher, M.C.

    2001-01-01

    Dermal exposure assessment and modeling is still in early phases of development. This article presents the results of a workshop organized to harmonize the future needs in this field. Methods for dermal exposure assessment either assess the mass of contaminant that is transferred to the skin, or the

  15. Classification of Dermal Exposure Modifiers and Assignment of Values for a Risk Assessment Toolkit

    NARCIS (Netherlands)

    Goede, H.A.; Tijssen, S.C.H.A.; Schipper, H.J.; Warren, N.; Oppl, R.; Kalberlah, F.; Hemmen, J.J. van

    2003-01-01

    This paper describes how default dermal exposure values can be adjusted with modifier values for specific work situations. The work presented here is supplementary to a toolkit developed for the EU RISKOFDERM project. This toolkit is intended for the assessment and management of dermal risks in smal

  16. Patterns of Dermal Exposure to Hazardous Substances in European Union Workplaces

    NARCIS (Netherlands)

    Rajan-Sithamparanadarajah, R.; Roff, M.; Delgado, P.; Eriksson, K.; Fransman, W.; Gijsbers, J.H.J.; Hughson, G.; Mäkinen, M.; Hemmen, J.J. van

    2004-01-01

    Workplace dermal exposure assessment is a complex task that aims to understand the dynamic interaction between the skin and the hazardous substances present in the surrounding environment. A European project known as RISKOFDERM gathered dermal exposure data in 85 workplaces (industrial and other

  17. Variability of Task-based Dermal Exposure Measurements from a Variety of Workplaces

    NARCIS (Netherlands)

    Kromhout, H.; Fransman, W.; Vermeulen, R.; Roff, M.; Hemmen, J.J. van

    2004-01-01

    Introduction: The RISKOFDERM project collected task-based estimates of potential dermal exposure from a wide range of industries and services from around Europe. A formal statistical analysis was carried out to explore the main components of variability in dermal exposure levels. The central

  18. A dermal model for spray painters, part I : subjective exposure modelling of spray paint deposition

    NARCIS (Netherlands)

    Brouwer, D.H.; Semple, S.; Marquart, J.; Cherrie, J.W.

    2001-01-01

    The discriminative power of existing dermal exposure models is limited. Most models only allow occupational hygienists to rank workers between and within workplaces according to broad bands of dermal exposure. No allowance is made for the work practices of different individuals. In this study a

  19. Variability of Task-based Dermal Exposure Measurements from a Variety of Workplaces

    NARCIS (Netherlands)

    Kromhout, H.; Fransman, W.; Vermeulen, R.; Roff, M.; Hemmen, J.J. van

    2004-01-01

    Introduction: The RISKOFDERM project collected task-based estimates of potential dermal exposure from a wide range of industries and services from around Europe. A formal statistical analysis was carried out to explore the main components of variability in dermal exposure levels. The central researc

  20. Methods for assessing risks of dermal exposures in the workplace.

    Science.gov (United States)

    McDougal, James N; Boeniger, Mark F

    2002-07-01

    The skin as a route of entry for toxic chemicals has caused increasing concern over the last decade. The assessment of systemic hazards from dermal exposures has evolved over time, often limited by the amount of experimental data available. The result is that there are many methods being used to assess safety of chemicals in the workplace. The process of assessing hazards of skin contact includes estimating the amount of substance that may end up on the skin and estimating the amount that might reach internal organs. Most times, toxicology studies by the dermal route are not available and extrapolations from other exposure routes are necessary. The hazards of particular chemicals can be expressed as "skin notations", actual exposure levels, or safe exposure times. Characterizing the risk of a specific procedure in the workplace involves determining the ratio of exposure standards to an expected exposure. The purpose of this review is to address each of the steps in the process and describe the assumptions that are part of the process. Methods are compared by describing their strengths and weaknesses. Recommendations for research in this area are also included.

  1. Dermal and transdermal delivery of pharmaceutically relevant macromolecules.

    Science.gov (United States)

    Münch, S; Wohlrab, J; Neubert, R H H

    2017-10-01

    The skin offers an attractive way for dermal and transdermal drug delivery that is why the drug still needs certain qualities to transcend the outermost layer of the skin, the stratum corneum. The requirements are: drugs with a maximum molecular weight of 1kDa, high lipophilicity and a certain polarity. This would restrict the use of a transdermal delivery of macromolecules, which would make the drug more effective in therapeutic administration. Various studies have shown that macromolecules without support do not penetrate the human skin. This effect can be achieved using physical and chemical methods, as well as biological peptides. The most popular physical method is the use of microneedles to create micropores in the skin and release the active agent in different sections. But also, other methods have been tested. Microjets, lasers, electroporation, sonophoresis and iontophoresis are also promising methods to successfully deliver dermal and transdermal macromolecules. Additionally, there are different penetration enhancer groups and biological peptides, which are also considered to be interesting approaches of enabling macromolecules to travel along the skin. All these methods will be described and evaluated in this review article. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. The dermal carcinogenic potential of unrefined and hydrotreated lubricating oils.

    Science.gov (United States)

    McKee, R H; Daughtrey, W C; Freeman, J J; Federici, T M; Phillips, R D; Plutnick, R T

    1989-08-01

    Unrefined lubricating oils contain relatively high levels of polycyclic aromatic hydrocarbons (PAH) and have been shown to induce tumors in mouse skin. Exxon has developed a new method of refining these materials, a severe hydrotreatment process that is optimized for PAH removal. The specific objectives of the current study were to assess PAH reduction and then to evaluate directly the dermal carcinogenic potential of the materials that spanned the range of products produced by this method. The test samples included unrefined light and heavy vacuum distillates from a naphthenic crude oil, as well as the corresponding severely hydrotreated products. Two sets of samples were prepared to assess the effects of various operating parameters in the reactor. Additionally, positive (benzo[a]pyrene), negative (white mineral oil) and vehicle (toluene) control groups were included to assess the sensitivity and specificity of the bioassay. Each sample was applied in twice-weekly aliquots to the backs of 40 male C3H mice. In the analytical studies, significant reductions in the levels of several specific PAH were demonstrated. In the dermal carcinogenesis studies, the unrefined oils and the positive control induced tumors and also significantly reduced survival. None of the mice treated with severely hydrotreated oils or with the negative or vehicle controls developed skin tumors, and survival of these mice was not significantly different from the control. Thus, the data demonstrated that this new, severe hydrotreatment process was an effective means of converting carcinogenic feedstocks to non-carcinogenic products.

  3. Complications caused by injection of dermal filler in Danish patients

    DEFF Research Database (Denmark)

    Uth, Charlotte Caspara; Elberg, Jens Jørgen; Zachariae, Claus

    2016-01-01

    Background: The usage of dermal fillers has increased significantly in recent years. Soft tissue augmentation with fillers helps to diminish the facial lines and to restore volume and fullness in the face at a relatively low cost. With the increasing number of treatments, the number of complicati......Background: The usage of dermal fillers has increased significantly in recent years. Soft tissue augmentation with fillers helps to diminish the facial lines and to restore volume and fullness in the face at a relatively low cost. With the increasing number of treatments, the number...... of complications is likely to increase as well.  Methods: A total of 37 patients with complications were collected retrospectively during a period of 13 years using original data files. Information on the type, date, number and location of the injections, type and date of complications, treatment, bacteria...... and complications was 2 years (range 1 day–8 years). The most common reported complications were edema (81 %), noduli (67.7 %), infections (54.1 %), discoloration (51.4 %), and granuloma formation (48.6 %). Surgical removal of the filler material was attempted in four patients.  Conclusions: With the increased use...

  4. Distribution of kerosene components in rats following dermal exposure.

    Science.gov (United States)

    Tsujino, Y; Hieda, Y; Kimura, K; Eto, H; Yakabe, T; Takayama, K; Dekio, S

    2002-08-01

    The systemic distribution of kerosene components in blood and tissues was analysed in rats following dermal exposure. Four types of trimethylbenzenes (TMBs) and aliphatic hydrocarbons (AHCs) with carbon numbers 9-16 (C(9)-C(16)) were analysed as major kerosene components by capillary gas chromatography/mass spectrometry (GC/MS). The kerosene components were detected in blood and all tissues after a small piece of cotton soaked with kerosene was applied to the abdominal skin. The amounts of TMBs detected were higher than those of AHCs. Greater increases in TMB levels were found in adipose tissue in an exposure duration-dependent manner. The amounts of TMBs detected were only at trace levels following post-mortem dermal exposure to kerosene. These findings suggest that kerosene components were absorbed percutaneously and distributed to various organs via the blood circulation. Post-mortem or ante-mortem exposure to kerosene could be distinguished when the exposure duration was relatively long. Adipose tissue would seem to be the most useful for estimating the degree of kerosene exposure.

  5. Nanofeatured silk fibroin membranes for dermal wound healing applications.

    Science.gov (United States)

    Karahaliloğlu, Zeynep; Ercan, Batur; Denkbaş, Emir B; Webster, Thomas J

    2015-01-01

    As an effort to create the next generation of improved skin graft materials, in this study, we modified the surfaces of a previously investigated material, silk fibroin, using a NaOH alkaline treatment to obtain a biologically inspired nanofeatured surface morphology. Such surfaces were characterized for roughness, energy, and chemistry. In addition, keratinocyte (skin-forming cells) adhesion and proliferation on such nanofeatured silk fibroin wound dressings were studied in an initial attempt to determine the promotion of an epidermal cover on the wound bed to form a new epidermal barrier. Dermal fibroblast adhesion and proliferation were also studied to assess the ability of nanostructured silk fibroin to replace damaged dermal tissue in chronic wounds (i.e., for diabetic foot ulcers). Results demonstrated for the first time that keratinocyte and fibroblast cell density was greater on nanofeatured silk fibroin membranes compared with non-treated silk fibroin surfaces. The enhancement in cellular functions was correlated with an increase in silk surface nanotopography, wettability and change in chemistry after NaOH treatment. Due to the present promising results, the newly developed nanofeatured silk fibroin membranes are exciting alternative skin graft materials which should be further studied for various skin patch and wound dressing applications.

  6. A study of uniaxial tension on the superficial dermal microvasculature.

    Science.gov (United States)

    Barnhill, R L; Bader, D L; Ryan, T J

    1984-05-01

    A spring-loaded apparatus was designed to apply uniaxial tension to forearm skin in 17 human subjects--10 normals, 6 psoriatics, and 1 patient with scleroderma. Simultaneously, the effects of stretching on the upper dermal vasculature were observed stereomicroscopically. Progressive changes (collapse) in the superficial microvasculature--vertical capillary loops and horizontal subpapillary plexus--with increasing tension were photographed. Force and strains were recorded at the points of disappearance of virtually all vessels. An average force of 11.9 newtons (N), accompanied by a mean strain of 10.3%, resulted in occlusion of all vessels. A much higher force (18.5 N) was necessary to occlude blood flow in the 1 patient with scleroderma. In summary, we have described a new technique for the study of mechanical forces on the blood supply of the epidermis. The data have shown that uniaxial tension has important effects on the superficial dermal microvasculature, resulting in impedance and obliteration of blood flow at relatively low magnitudes.

  7. Acellular dermal matrix based nipple reconstruction: A modified technique

    Directory of Open Access Journals (Sweden)

    Raghavan Vidya

    2017-09-01

    Full Text Available Nipple areolar reconstruction (NAR has evolved with the advancement in breast reconstruction and can improve self-esteem and, consequently, patient satisfaction. Although a variety of reconstruction techniques have been described in the literature varying from nipple sharing, local flaps to alloplastic and allograft augmentation, over time, loss of nipple projection remains a major problem. Acellular dermal matrices (ADM have revolutionised breast reconstruction more recently. We discuss the use of ADM to act as a base plate and strut to give support to the base and offer nipple bulk and projection in a primary procedure of NAR with a local clover shaped dermal flap in 5 breasts (4 patients. We used 5-point Likert scales (1 = highly unsatisfied, 5 = highly satisfied to assess patient satisfaction. Median age was 46 years (range: 38–55 years. Nipple projection of 8 mm, 7 mm, and 7 mms were achieved in the unilateral cases and 6 mm in the bilateral case over a median 18 month period. All patients reported at least a 4 on the Likert scale. We had no post-operative complications. It seems that nipple areolar reconstruction [NAR] using ADM can achieve nipple projection which is considered aesthetically pleasing for patients.

  8. Effect of Arctium lappa (burdock) extract on canine dermal fibroblasts.

    Science.gov (United States)

    Pomari, Elena; Stefanon, Bruno; Colitti, Monica

    2013-12-15

    Although the biological activities of Arctium lappa (burdock) have been already investigated in human and other species, data evaluating the molecular mechanisms have not been reported in the dog. In this study we analyzed for the first time the effect of a root extract of burdock on molecular responses in canine dermal fibroblasts with H2O2 stimulation (H group), with burdock treatment (B group) and with H2O2 stimulation and burdock treatment (BH group), using RNAseq technology. Differentially expressed genes (P<0.05) of H, B and BH groups in comparison to the untreated sample (negative control, C group) were identified with MeV software and were functional annotated and monitored for signaling pathways and candidate biomarkers using the Ingenuity Pathways Analysis (IPA). The expression profile of canine dermal fibroblasts treated with burdock extract with or without H2O2 stimulation, showed an up-regulation of mitochondrial superoxide dismutase (SOD2), disheveled 3 (DVL3) and chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2). The data suggested that burdock has implications in cell adhesion and gene expression with the modulation of Wnt/β catenin signaling and Chondroitin Sulphate Biosynthesis that are particularly important for the wound healing process.

  9. The Use of Dermal Autograft for Fascial Repair of TRAM Flap Donor Sites

    Directory of Open Access Journals (Sweden)

    Ali Arab Kheradmand

    2010-03-01

    Full Text Available Closure of fascia after transverse rectus abdominis musculocutaneous (TRAM flap has usually been performed with direct closure or synthetic material. The dermal autograft was removed from zone IV of flap was an alternative to reinforce fascial closure. The dermal autograft was used in 34 patients after TRAM harvest for breast, head and neck reconstruction and Prolene mesh was used in 42 other patients for closure of fascial defect. All patients were followed by physical examinations. Average follow-up in the dermal autograft group was 27.3 versus 20.7 months in the second group. In the dermal autograft group, one patient complained of bulging of the anterior abdominal wall; one developed a wound infection. In the second group, one patients experienced true hernia. Dermal autografts are a useful alternative to mesh repair of fascial defects after TRAM flap harvest.

  10. Hanford Tank Ventilation System Condensates and Headspace Vapors: An Assessment of Potential Dermal Exposures

    Energy Technology Data Exchange (ETDEWEB)

    Huckaby, James L.; Springer, David L.

    2006-04-24

    This study considers the question of whether potential dermal exposures to Hanford high-level radioactive waste tank headspace vapors and their condensates could result in significant exposure to workers. Three types of potential exposures were evaluated; dermal contact with aqueous condensate, organic condensate, and direct contact with head space vapors. The dermal absorption rates from aqueous and organic condensates were estimated for selected chemicals using a model described by EPA (1992) with a modified correlation for dermal permeability suggested by Wilschut et al. (1995). Dermal absorption rates of vapors were estimated using a model given by AIHA (2000). Results were compared to an ''equivalent inhalation dose'' calculated by multiplying the inhalation occupational exposure limit by a nominal daily inhalation rate. The results should provide guidance for industrial hygienists to prepare specific recommendations based on specific scenarios.

  11. Deriving Default Dermal Exposure Values for Use in a Risk Assessment Toolkit for Small and Medium-sized Enterprises

    NARCIS (Netherlands)

    Warren, N.; Goede, H.A.; Tijssen, S.C.H.A.; Oppl, R.; Schipper, H.J.; Hemmen, J.J. van

    2003-01-01

    This paper describes the derivation of default task-based dermal exposure values for use in a risk assessment toolkit for small and medium-sized enterprises (SMEs). A set of separately determined dermal exposure modifiers have been applied to published studies of dermal exposure to obtain 'normalize

  12. Assessment of dermal exposure to bitumen condensate among road paving and mastic crews with an observational method

    NARCIS (Netherlands)

    Agostini, M.; Fransman, W.; Vocht, F.D.; Joode, B.V.W.D.; Kromhout, H.

    2011-01-01

    Objective: To assess dermal exposure to bitumen condensate among road pavers and indoor mastic workers in multiple crews using a semi-quantitative observational method [DeRmal Exposure Assessment Method (DREAM)].Methods: Two skilled observers assessed dermal exposure to bitumen condensate among 85 a

  13. Evaluation of dermal substitute in a novel co-transplantation model with autologous epidermal sheet.

    Directory of Open Access Journals (Sweden)

    Guofeng Huang

    Full Text Available The development of more and more new dermal substitutes requires a reliable and effective animal model to evaluate their safety and efficacy. In this study we constructed a novel animal model using co-transplantation of autologous epidermal sheets with dermal substitutes to repair full-thickness skin defects. Autologous epidermal sheets were obtained by digesting the basement membrane (BM and dermal components from rat split-thickness skins in Dispase II solution (1.2 u/ml at 4 °C for 8, 10 and 12 h. H&E, immunohistochemical and live/dead staining showed that the epidermal sheet preserved an intact epidermis without any BM or dermal components, and a high percentage of viable cells (92.10 ± 4.19% and P63 positive cells (67.43 ± 4.21% under an optimized condition. Porcine acellular dermal matrixes were co-transplanted with the autologous epidermal sheets to repair full-thickness skin defects in Sprague-Dawley rats. The epidermal sheets survived and completely re-covered the wounds within 3 weeks. Histological staining showed that the newly formed stratified epidermis attached directly onto the dermal matrix. Inflammatory cell infiltration and vascularization of the dermal matrix were not significantly different from those in the subcutaneous implantation model. Collagen IV and laminin distributed continuously at the epidermis and dermal matrix junction 4 weeks after transplantation. Transmission electron microscopy further confirmed the presence of continuous lamina densa and hemidesmosome structures. This novel animal model can be used not only to observe the biocompatibility of dermal substitutes, but also to evaluate their effects on new epidermis and BM formation. Therefore, it is a simple and reliable model for evaluating the safety and efficacy of dermal substitutes.

  14. Efficacy of lacosamide by focal seizure subtype.

    Science.gov (United States)

    Sperling, Michael R; Rosenow, Felix; Faught, Edward; Hebert, David; Doty, Pamela; Isojärvi, Jouko

    2014-10-01

    The purpose of this post hoc exploratory analysis was to determine the effects of the antiepileptic drug, lacosamide, on focal (partial-onset) seizure subtypes. Patient data from the three lacosamide pivotal trials were grouped and pooled by focal seizure subtype at Baseline: simple partial seizures (SPS), complex partial seizures (CPS), and secondarily generalized partial seizures (SGPS). Both efficacy outcomes (median percent change from Baseline to Maintenance Phase in seizure frequency per 28 days and the proportion of patients experiencing at least a 50% reduction in seizures) were evaluated by lacosamide dose (200, 400, or 600 mg/day) compared to placebo for each seizure subtype. An additional analysis was performed to determine whether a shift from more severe focal seizure subtypes to less severe occurred upon treatment with lacosamide. In patients with CPS or SGPS at Baseline, lacosamide 400 mg/day (maximum recommended daily dose) and 600 mg/day reduced the frequency of CPS and SGPS compared to placebo. Likewise, a proportion of patients with CPS and SGPS at Baseline experienced at least a 50% reduction in the frequency of CPS and SGPS (≥50% responder rate) in the lacosamide 400 and 600 mg/day groups compared with placebo. For both outcomes, numerically greatest responses were observed in the lacosamide 600 mg/day group among patients with SGPS at Baseline. In patients with SPS at Baseline, no difference between placebo and lacosamide was observed for either efficacy outcome. An additional exploratory analysis suggests that in patients with SPS at Baseline, CPS and SGPS may have been shifted to less severe SPS upon treatment with lacosamide. The results of these exploratory analyses revealed reductions in CPS and SGPS frequency with adjunctive lacosamide. Reduction in CPS and SGPS may confound assessment of SPS since the CPS or SGPS may possibly change to SPS by effective treatment.

  15. Ultrasonographic features of focal xanthogranulomatous pyelonephritis

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jong Chul [Chungnam National University Hospital, Daejeon (Korea, Republic of)

    2003-09-15

    To analyze ultrasonographic (US) features of focal xanthogranulomatous pyelonephritis (XGP). US features of 15 patients with pathologically proven focal XGP were retrospectively analyzed by two radiologists who reached a consensus, in terms of the location, margin, size, and echo texture of the mass-like lesion, and presence or absence of associated calculi, lymphadenopathy, or local extension. These US findings were compared with CT findings. The patients were checked for the clinical symptom and sign through the review of hospital records. Thirteen of 15 patients were adults and 2 were children, and 10 were males. Their age ranged from 6 to 57 (mean, 39) years at presentation. Eight of 15 cases (53%) were in right kidney, and on US scan 12 cases (80%) were well circumscribed. The size of the mass ranged from 2.5 to 5.8 (mean, 3.8) cm. Of 15 masses, 13 (87%) were solid and two were cystic. Thirteen solid masses were composed of 10 masses (77%) with inner hypo- or anechoic foci and the other three masses without inner hypo- or anechoic foci, and the preoperative diagnosis was either renal cell carcinoma (n=11) or Wilms' tumor (n=2). The preoperative diagnosis in two cystic lesions (13%) was renal abscess. Renal calculi were found in one case, but lymphadenopathy or local extension was not depicted. Clinical symptoms and signs of flank pain, fever, leukocytosis, or anemia were found in 11 of 15 patients. Focal XGP revealed US features of solid or cystic masses confined within the renal outline mimicking renal tumor or abscess. US features, however, in association with clinical findings and other imaging findings (such as CT or MR imaging) may help the differential diagnosis of this lesion.

  16. Dermal adipocytes and hair cycling: is spatial heterogeneity a characteristic feature of the dermal adipose tissue depot?

    Science.gov (United States)

    Kruglikov, Ilja L; Scherer, Philipp E

    2016-04-01

    Adipocytes are widely distributed in the dermis, in a unique fat depot referred to as dermal white adipose tissue (dWAT). In rodents, dWAT is present as widespread thin layers, whereas in pigs and humans, it is present in clusters referred to as 'dermal cones' around the pilosebaceous units. This distinct layer of fat cells located above the subcutaneous white adipose tissue is important for proper hair follicle (HF) cycling in rodents. Murine HFs produce spatially restricted synchronous patches after their second postnatal cycle which correlates with the spatial heterogeneity of murine dWAT. Similarly, the cycling of HFs in humans may also be related to the spatial distribution of dWAT, making the difference between murine and human HF cycling of more quantitative than of qualitative nature. This should allow the production of small spatially correlated HF patches in human skin, and we propose that this process can be regulated by paracrine signalling involving a number of signalling modules, including the hedgehog pathway. This pathway is an established player in HF cycling, but is also involved in the regulation of adipogenesis and may therefore be a key regulator of the process across species. We also suggest that the spatial heterogeneity of dWAT is connected not only to HF cycling, but may also be related to other physiological and pathological processes in the skin.

  17. Characterization of DECam focal plane detectors

    Energy Technology Data Exchange (ETDEWEB)

    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.

  18. Characterization of DECam focal plane detectors

    Energy Technology Data Exchange (ETDEWEB)

    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.

  19. Focal inflammatory diseases of the liver

    Energy Technology Data Exchange (ETDEWEB)

    Oto, Aytekin; Akhan, Okan; Oezmen, Mustafa

    1999-10-01

    Inflammatory lesions constitute an important subgroup of focal liver lesions. They may mimic primary or metastatic neoplastic lesions and their differentiation from neoplasia is clinically very important since management of the patient significantly changes. Radiologists should have an important role in both the diagnosis and therapy of these lesions by performing percutaneous aspirations and drainages. In this review we discussed the radiological findings of pyogenic abscesses, amebic abscesses, candidiasis, tuberculosis, hydatic cysts, fascioliasis, ascariasis, schistosomiasis, and sarcoidosis with a special emphasis on US, CT and MR characteristics.

  20. Kartagener syndrome with focal segmental glomerulosclerosis.

    Science.gov (United States)

    Momeni, Ali; Doroushi, Behzad; Taheri, Nadia

    2013-11-01

    Primary ciliary dyskinesia is characterized by congenital impairment of mucociliary clearance. Kartagener syndrome (KS) is a clinical variant of primary ciliary dyskinesia which is involved in situs inversus associated with chronic respiratory infections. In addition, glomerular disease in KS syndrome is rare and reported cases are limited. We had a 27-year-old female patient with KS who presented with proteinuria, hematuria, normal kidney function, and a family history of systemic lupus erythematosus. Kidney biopsy showed segmental scar with adhesion to Bowman capsule, which was indicative of focal segmental glomerulosclerosis.

  1. Focal epithelial hyperplasia (Heck’s disease)

    OpenAIRE

    Parichehr Gheliani; Atefe Tavangar; Nakissa Torabinia; Laleh Maleki; Tahereh Nosratzehi

    2013-01-01

    Focal epithelial hyperplasia (Heck) is a rare lesion caused by human papilloma virus subtype 13 or 32 and presents as multiple small white or pink papules on the mucosal surface of lips, buccal mucosa and tongue usually seen in children and adolescent of American Indian and Eskimo background. This disease has a genetic basis. The site of new lesions and recurrence are unpredictable. Continued follow up of the patient is often necessary. In this report, a 50-year-old woman is described with be...

  2. FOCAL EPITHELIAL HYPERPLASIA: HECK’S DISEASE

    Directory of Open Access Journals (Sweden)

    Brzeziński Piotr

    2010-10-01

    Full Text Available Heck's disease (focal epithelial hyperplasia (FEH is clinically characterized by multiple circumscribed, soft elevated nodules of the oral mucosa. Papules and plaques are usually the color of normal mucosa, but may be pale or, rarely, white. Disease may persist for years, producing a significant reduction in quality of life. Lessions may be located in the area of mucous membranes of the lips, cheeks and tongue. It is believed that the two virus types are responsible for the FEH, are: HPV 13 and HPV 32. Different therapeutic procedures have been reported: surgical excision, laser ablation, cryotherapy, electrocauterization, interferon, retinoic acid, 5% immiquimod.

  3. Focal xanthogranulomatous pyelonephritis: reports of 2 cases

    Energy Technology Data Exchange (ETDEWEB)

    Han, Dae Hee; Jeong, Young Ki; Kim, Seung Hyup [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    1996-07-01

    Xanthogranulomatous pyelonephritis is a chronic inflammatory condition which in most cases involves either an entire non-duplicated kidney or a moiety of a duplicated kidney. These cases present with quite characteristic radiologic findings including an enlarged nonfunctioning kidney and renal stones. However, when the condition involves only a part of a non-duplicated kidney and especially where there is an absence of the specific findings described above, differentiation from cystic neoplasm may be difficult. We report the radiologic findings of two such cases of focal xanthogranulomatous pyelonephritis.

  4. Primary Total Laparoscopic Sigmoid Vaginoplasty in Transgender Women with Penoscrotal Hypoplasia: A Prospective Cohort Study of Surgical Outcomes and Follow-Up of 42 Patients

    NARCIS (Netherlands)

    Bouman, M.B.; Sluis, W.B. van der; Buncamper, M.E.; Ozer, M.; Mullender, M.G.; Meijerink, W.J.H.J.

    2016-01-01

    BACKGROUND: In young transgender women previously treated with puberty-suppressing hormones, penoscrotal hypoplasia can make penoscrotal inversion vaginoplasty unfeasible. The aim of this study was to prospectively assess surgical outcomes and follow-up of total laparoscopic sigmoid vaginoplasty as

  5. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

    NARCIS (Netherlands)

    Arts, W F M; Hofstee, Y; Drejer, G F; Beverstock, G C; Oosterwijk, J C

    1995-01-01

    A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and mate

  6. Social Communication Difficulties and Autism Spectrum Disorder in Young Children with Optic Nerve Hypoplasia and/or Septo-Optic Dysplasia

    Science.gov (United States)

    Parr, Jeremy R.; Dale, Naomi J.; Shaffer, Lara M.; Salt, Alison T.

    2010-01-01

    Aim: The aim of this study was to study systematically social, communication, and repetitive/restrictive (SCRR) behavioural difficulties and clinical autism spectrum disorder (ASD) in children with optic nerve hypoplasia (ONH) and/or septo-optic dysplasia (SOD), and to investigate the relationship between visual impairment, SCRR difficulties, ASD,…

  7. Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

    Science.gov (United States)

    Gigante, Maddalena; d'Altilia, Marilena; Montemurno, Eustacchio; Diella, Sterpeta; Bruno, Francesca; Netti, Giuseppe S; Ranieri, Elena; Stallone, Giovanni; Infante, Barbara; Grandaliano, Giuseppe; Gesualdo, Loreto

    2013-03-18

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oculis, encoding a DNA binding protein interacting with EYA1, have been reported less frequently. Recently, mutations in another SIX family member, SIX5, have been described in BOR patients, however, this association has not been confirmed by other groups. In this study, we have clinically and genetically characterized a proband that displayed hearing loss, pre-auricular pits, branchial fistulae, hypoplasia of the left kidney, bilateral mild hydronephrosis, progressive proteinuria and focal glomerulosclerosis. Mutational analysis of EYA1 gene revealed a novel splice site mutation, c.1475 + 1G > C, that affects EYA1 splicing and produces an aberrant mRNA transcript, lacking exon 15, which is predicted to encode a truncated protein of 456 aa. This report provided the functional description of a novel EYA1 splice site mutation and described for the first time a case of BOR syndrome associated with the atypical renal finding of focal glomerulosclerosis, highlighting the importance of molecular testing and detailed clinical evaluation to provide accurate diagnosis and appropriate genetic counselling.

  8. Focal liver lesions: Practical magnetic resonance imagingapproach

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    With the widespread of cross-sectional imaging, a growthof incidentally detected focal liver lesions (FLL) hasbeen observed. A reliable detection and characterizationof FLL is critical for optimal patient management.Maximizing accuracy of imaging in the context ofFLL is paramount in avoiding unnecessary biopsies,which may result in post-procedural complications. Atremendous development of new imaging techniqueshas taken place during these last years. Nowadays,Magnetic resonance imaging (MRI) plays a key rolein management of liver lesions, using a radiation-freetechnique and a safe contrast agent profile. MRI playsa key role in the non-invasive correct characterizationof FLL. MRI is capable of providing comprehensiveand highly accurate diagnostic information, withthe additional advantage of lack of harmful ionizingradiation. These properties make MRI the mainstay forthe noninvasive evaluation of focal liver lesions. In thispaper we review the state-of-the-art MRI liver protocol,briefly discussing different sequence types, the uniquecharacteristics of imaging non-cooperative patients anddiscuss the role of hepatocyte-specific contrast agents.A review of the imaging features of the most commonbenign and malignant FLL is presented, supplementedby a schematic representation of a simplistic practicalapproach on MRI.

  9. The Piriform Cortex and Human Focal Epilepsy

    Directory of Open Access Journals (Sweden)

    David eVaughan

    2014-12-01

    Full Text Available It is surprising that the piriform cortex, when compared to the hippocampus, has been given relatively little significance in human epilepsy. Like the hippocampus, it has a phylogenetically preserved three-layered cortex that is vulnerable to excitotoxic injury, has broad connections to both limbic and cortical areas, and is highly epileptogenic - being critical to the kindling process. The well-known phenomenon of early olfactory auras in temporal lobe epilepsy highlights its clinical relevance in humans. Perhaps because it is anatomically indistinct and difficult to approach surgically, as it clasps the middle cerebral artery, it has, until now, been understandably neglected. In this review we emphasize how its unique anatomical and functional properties, as primary olfactory cortex, predispose it to involvement in focal epilepsy. From recent convergent findings in human neuroimaging, clinical epileptology and experimental animal models, we make the case that the piriform cortex is likely to play a facilitating and amplifying role in human focal epileptogenesis, and may influence progression to epileptic intractability.

  10. The piriform cortex and human focal epilepsy.

    Science.gov (United States)

    Vaughan, David N; Jackson, Graeme D

    2014-01-01

    It is surprising that the piriform cortex, when compared to the hippocampus, has been given relatively little significance in human epilepsy. Like the hippocampus, it has a phylogenetically preserved three-layered cortex that is vulnerable to excitotoxic injury, has broad connections to both limbic and cortical areas, and is highly epileptogenic - being critical to the kindling process. The well-known phenomenon of early olfactory auras in temporal lobe epilepsy highlights its clinical relevance in human beings. Perhaps because it is anatomically indistinct and difficult to approach surgically, as it clasps the middle cerebral artery, it has, until now, been understandably neglected. In this review, we emphasize how its unique anatomical and functional properties, as primary olfactory cortex, predispose it to involvement in focal epilepsy. From recent convergent findings in human neuroimaging, clinical epileptology, and experimental animal models, we make the case that the piriform cortex is likely to play a facilitating and amplifying role in human focal epileptogenesis, and may influence progression to epileptic intractability.

  11. Musical anhedonia after focal brain damage.

    Science.gov (United States)

    Belfi, Amy M; Evans, Erin; Heskje, Jonah; Bruss, Joel; Tranel, Daniel

    2017-03-01

    People listen to music because it is pleasurable. However, there are individual differences in the reward value of music. At the extreme low end of this continuum, individuals who derive no pleasure from music are said to have 'musical anhedonia.' Cases of acquired musical anhedonia following focal brain damage are rare, with only a handful having been reported in the scientific literature. Here, we surveyed a large sample of patients with focal brain damage to identify the frequency, specificity, and neural correlates of acquired musical anhedonia. Participants completed the Musical anhedonia Questionnaire and the Barcelona Music Reward Questionnaire (Mas-Herrero et al., 2013) to assess changes in musical enjoyment and reward following brain injury. Neuroanatomical data were analyzed with a proportional MAP-3 method to create voxelwise lesion proportion difference maps. No clear or consistent neuroanatomical correlates of musical anhedonia were identified. One patient with damage to the right-hemisphere putamen and internal capsule displayed specific and severe acquired musical anhedonia. These findings indicate that acquired musical anhedonia is very uncommon, a result which is consistent with the fact that only a small number of such cases have been reported in the literature. This rarity could have positive implications for the therapeutic potentialities of music in patients with severe neurological disorders. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Fast & Furious focal-plane wavefront sensing

    CERN Document Server

    Korkiakoski, Visa; Doelman, Niek; Kenworthy, Matthew; Otten, Gilles; Verhaegen, Michel

    2014-01-01

    We present two complementary algorithms suitable for using focal-plane measurements to control a wavefront corrector with an extremely high spatial resolution. The algorithms use linear approximations to iteratively minimize the aberrations seen by the focal-plane camera. The first algorithm, Fast & Furious (FF), uses a weak-aberration assumption and pupil symmetries to achieve fast wavefront reconstruction. The second algorithm, an extension to FF, can deal with an arbitrary pupil shape; it uses a Gerchberg-Saxton style error reduction to determine the pupil amplitudes. Simulations and experimental results are shown for a spatial light modulator controlling the wavefront with a resolution of 170 x 170 pixels. The algorithms increase the Strehl ratio from ~0.75 to 0.98-0.99, and the intensity of the scattered light is reduced throughout the whole recorded image of 320 x 320 pixels. The remaining wavefront rms error is estimated to be ~0.15 rad with FF and ~0.10 rad with FF-GS.

  13. Clinical and Morphological Features of Focal Adenomyosis

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    Yuliya B. Kurashvili

    2013-09-01

    Full Text Available Background: Adenomyosis is a very real problem encountered in modern gynecology due to the increase in the incidence, severity of the disease, and absence of effective methods of conservative treatment. The aim of the study was to investigate the clinical and morphological features of the focal and diffuse forms of adenomyosis. Methods and Results: The study involved 70 women who applied to the Center with the diagnosis of ‘adenomyosis’. Examination included transvaginal sonography (TVS, magnetic resonance spectroscopy (MRS, and morphological study of the adenomyotic foci. With a probability of 99%, one can argue that focal adenomyosis (FA in its clinical features is different from diffuse adenomyosis (DA in all its major manifestations. Conclusion: FA has unique morphological characteristics and clinical features. The diagnosis of FA should be based on a complex of clinical and instrumental data in conjunction with morphological process verification. Besides, there are difficulties in the diagnosis of FA, which is a major reason for the incorrect determination of the treatment tactic for patients. However, the application of MRS allows the preoperative identification of the biochemical structure of the focus and determination of its borders, and in the postoperative period, selection of optimal treatment tactics based on the identified morphological features of the removed adenomyotic foci.

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

    Science.gov (United States)

    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

  15. Androgen receptor accelerates premature senescence of human dermal papilla cells in association with DNA damage.

    Directory of Open Access Journals (Sweden)

    Yi-Chien Yang

    Full Text Available The dermal papilla, located in the hair follicle, expresses androgen receptor and plays an important role in hair growth. Androgen/Androgen receptor actions have been implicated in the pathogenesis of androgenetic alopecia, but the exact mechanism is not well known. Recent studies suggest that balding dermal papilla cells exhibit premature senescence, upregulation of p16(INK4a, and nuclear expression of DNA damage markers. To investigate whether androgen/AR signaling influences the premature senescence of dermal papilla cells, we first compared frontal scalp dermal papilla cells of androgenetic alopecia patients with matched normal controls and observed that premature senescence is more prominent in the dermal papilla cells of androgenetic alopecia patients. Exposure of androgen induced premature senescence in dermal papilla cells from non-balding frontal and transitional zone of balding scalp follicles but not in beard follicles. Overexpression of the AR promoted androgen-induced premature senescence in association with p16(INK4a upregulation, whereas knockdown of the androgen receptor diminished the effects of androgen. An analysis of γ-H2AX expression in response to androgen/androgen receptor signaling suggested that DNA damage contributes to androgen/androgen receptor-accelerated premature senescence. These results define androgen/androgen receptor signaling as an accelerator of premature senescence in dermal papilla cells and suggest that the androgen/androgen receptor-mediated DNA damage-p16(INK4a axis is a potential therapeutic target in the treatment of androgenetic alopecia.

  16. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

    Science.gov (United States)

    Boczonadi, Veronika; Müller, Juliane S; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; Ferrero, Ileana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez-Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J; Chinnery, Patrick F; Edvardson, Shimon; Horvath, Rita

    2014-07-03

    The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease. Experimental downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation. These findings show the central role of the exosomal pathway in neurodegenerative disease.

  17. Congenital ataxia and tremor with cerebellar hypoplasia in piglets borne by sows treated with Neguvon vet. (metrifonate, trichlorfon) during pregnancy.

    Science.gov (United States)

    Knox, B; Askaa, J; Basse, A; Bitsch, V; Eskildsen, M; Mandrup, M; Ottosen, H E; Overby, E; Pedersen, K B; Rasmussen, F

    1978-12-01

    In 1976--77 The State Veterinary Serum Laboratory received new-born pigs which had shown nervous disorders immediately after birth. In all the cases the sows had been treated with Nevugon vet. (metrifonate, trichlorfon) during pregnancy. In the majority of the affected litters the morbidity and lethality were 100 per cent. Analysis of the breeding data from some of the herds suggested that the period during which the fetuses are sensitive is rather narrow, i.e., approximately from day 45 to day 63. The disease was reproduced experimentally and it was concluded that oral treatment of pregnant sows with Neguvon vet. about the middle of the gestation period can result in severe nervous disorders in the piglets. Clinically the disease is characterized by ataxia and tremor, and corresponding to that there is a pronounced hypoplasia of the cerebellum and also a reduction in the size of the spinal cord.

  18. Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I

    Directory of Open Access Journals (Sweden)

    Rachna Rath

    2016-01-01

    Full Text Available Neurofibromatosis type 1 (NF1 is a clinically and genetically distinct disease involving both neuroectodermal and mesenchymal derivatives. Orofacial manifestations in NF1 have been documented before but occurrence of multifocal intraosseous (IO and extraosseous (EO neurofibromas is rare. The present case highlights the importance of imaging findings in the diagnosis and management of multifocal jaw, infratemporal, and parotid neurofibromas with muscular hypoplasia in an eight-year-old girl with NF1. Apart from orthopantomograms (OPG, three-dimensional computed tomography (3D CT and cross-sectional reformations were valuable in delineating the extent of the lytic lesion and identifying additional bony deformities of the mandible. Magnetic resonance imaging (MRI helped to identify the solid nature of the lesion and true extent of the soft tissue mass.

  19. Esthetic and endosurgical management of turner′s hypoplasia; a sequlae of trauma to developing tooth germ

    Directory of Open Access Journals (Sweden)

    Bhushan B

    2008-12-01

    Full Text Available Turner′s hypoplasia usually manifests as a portion of missing or diminished enamel, generally affecting one or more permanent teeth in the oral cavity. A case report of 8 year old girl who met with trauma at 2 years of age leading to primary incisors being knocked out, reported after 6 years with complaint of pain and discharge in her anterior malformed teeth is discussed in this article. The permanent incisors erupted with dilacerated crown, root malformations and missing enamel. Further, patient developed sinus, lateral root pathology, tooth mobility and malocclusion in relation to affected teeth which were managed by esthetic, functional, endodontic and surgical procedure. Root canal treatment along with palatal contouring and esthetic restoration by light cure composite was performed on the tooth with crown dilaceration and sinus, where as surgical management was considered for the tooth with root malformation.

  20. Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia.

    Science.gov (United States)

    Habas, Christophe; Manto, Mario

    2014-01-01

    We report the case of a 25 year-old patient who underwent morphological and functional brain magnetic resonance imaging (fMRI) to investigate a left neocerebellar hypoplasia discovered incidentally. We compared brain activation during overt and covert finger movements, and haptic discrimination. The contralateral cerebellar hemisphere compensated for mental imagery of hand movements and haptic discrimination, but not for motor execution. Moreover, the resting-state functional connectivity did not show compensatory functional coherence between the right cerebellum and cerebral areas connected with the hypoplastic cerebellum. Our case illustrates for the first time that cerebellar compensatory recruitment is an active, specific process related to task complexity and under the control of executive networks.