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  1. Artikel ; Online: Primary Cutaneous CD4+ Small/Medium T-Cell Lymphoproliferative Disorder in an Unusual Location.

    Ruiz-Sánchez, Daniel / Valtueña, Jara / Cantero, Maria Garayar / Barrutia, Leire / Volo, Víctor / López, Pilar Manchado / Martínez-García, Gerardo

    Indian journal of dermatology

    2023  Band 67, Heft 6, Seite(n) 837

    Sprache Englisch
    Erscheinungsdatum 2023-03-04
    Erscheinungsland India
    Dokumenttyp Journal Article
    ZDB-ID 416069-1
    ISSN 1998-3611 ; 0019-5154
    ISSN (online) 1998-3611
    ISSN 0019-5154
    DOI 10.4103/ijd.IJD_543_20
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  2. Artikel ; Online: Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.

    Palka-Bayard-de-Volo, Chiara / De Marco, Stefania / Chiavaroli, Valentina / Alfonsi, Melissa / Calabrese, Giuseppe / Chiarelli, Francesco / Mohn, Angelika

    Gene

    2012  Band 504, Heft 1, Seite(n) 107–110

    Abstract: We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11 ...

    Abstract We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11) de novo karyotype who presented an intricate phenotype characterized by mental retardation and facial dysmorphisms in combination with short stature. The structure of the derivative X chromosome was studied using BAC array-CGH which disclosed the Xp22 breakpoint between the STS and the VCX3A gene and the presence of the Yq11.1qter chromosome. It is common that females with Xp;Yq translocations present only short stature and are normal in every other aspect. Thus, this would be the first case in which a girl with Xp;Yq translocation presents an unusual phenotype with intermediate male clinical features with Xp;Yq translocations. The risk of developing gonadoblastoma in females with Y chromosome material is also discussed and, to this effect, different explanations related to this apparent variation are also presented.
    Mesh-Begriff(e) Abnormalities, Multiple ; Child ; Chromosomes, Human, X/genetics ; Chromosomes, Human, Y/genetics ; Comparative Genomic Hybridization ; Dwarfism/genetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability/genetics ; Karyotyping ; Male ; Phenotype ; Sex Chromosome Aberrations ; Translocation, Genetic/genetics
    Sprache Englisch
    Erscheinungsdatum 2012-08-01
    Erscheinungsland Netherlands
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 391792-7
    ISSN 1879-0038 ; 0378-1119
    ISSN (online) 1879-0038
    ISSN 0378-1119
    DOI 10.1016/j.gene.2012.05.009
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation

    Palka-Bayard-de-Volo, Chiara / De Marco, Stefania / Chiavaroli, Valentina / Alfonsi, Melissa / Calabrese, Giuseppe / Chiarelli, Francesco / Mohn, Angelika

    Gene. 2012 Aug. 1, v. 504, no. 1

    2012  

    Abstract: We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11 ...

    Abstract We report the clinical and molecular investigations in a girl with 46,X,-X,+der(X)t(X;Y)(p22;q11) de novo karyotype who presented an intricate phenotype characterized by mental retardation and facial dysmorphisms in combination with short stature. The structure of the derivative X chromosome was studied using BAC array-CGH which disclosed the Xp22 breakpoint between the STS and the VCX3A gene and the presence of the Yq11.1qter chromosome. It is common that females with Xp;Yq translocations present only short stature and are normal in every other aspect. Thus, this would be the first case in which a girl with Xp;Yq translocation presents an unusual phenotype with intermediate male clinical features with Xp;Yq translocations. The risk of developing gonadoblastoma in females with Y chromosome material is also discussed and, to this effect, different explanations related to this apparent variation are also presented.
    Schlagwörter X chromosome ; Y chromosome ; bacterial artificial chromosomes ; females ; genes ; girls ; karyotyping ; phenotype ; risk
    Sprache Englisch
    Erscheinungsverlauf 2012-0801
    Umfang p. 107-110.
    Erscheinungsort Elsevier B.V.
    Dokumenttyp Artikel
    ZDB-ID 391792-7
    ISSN 1879-0038 ; 0378-1119
    ISSN (online) 1879-0038
    ISSN 0378-1119
    DOI 10.1016/j.gene.2012.05.009
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  4. Artikel ; Online: Numerical Analysis on the Optimisation of Thermal Comfort Levels in an Office Located inside a Historical Building

    Eleonora Palka Bayard de Volo / Beatrice Pulvirenti / Aminhossein Jahanbin / Paolo Guidorzi / Giovanni Semprini

    Applied Sciences, Vol 13, Iss 2954, p

    2023  Band 2954

    Abstract: The present study examines the possibility of thermal comfort optimisation inside an office room where, due to historical heritage, it is possible to modify neither the energetic characteristic of the envelope nor the position of the inlet air vents. The ...

    Abstract The present study examines the possibility of thermal comfort optimisation inside an office room where, due to historical heritage, it is possible to modify neither the energetic characteristic of the envelope nor the position of the inlet air vents. The distribution of global and local thermal comfort indices is evaluated in both heating and cooling conditions by establishing a computational fluid dynamics (CFD) model validated against experimental data. The obtained results demonstrate a striking asymmetry of the air velocity and temperature distribution due to the low energy efficiency of the building. In heating mode, the predicted mean vote ( <math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><mi>P</mi><mi>M</mi><mi>V</mi></mrow></semantics></math> ) values were improved if the discharged air from the fan coil was at its maximal velocity. However, at the same time, the vertical air temperature gradient increased by around 0.5 <math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><msup><mrow></mrow><mo>°</mo></msup></semantics></math> C in each working station. In the cooling condition, in the absence of the solar radiation, the minimal air-flow rate satisfied the acceptable range of the draught rate ( <math xmlns="http://www.w3.org/1998/Math/MathML" display="inline"><semantics><mrow><mi>D</mi><mi>R</mi></mrow></semantics></math> ), whereas in the presence of a solar load, it could not meet the required cooling load in all positions, leading to higher floor temperature. The findings of this study allow for identifying and rearranging the optimal position of working stations in terms of thermal comfort.
    Schlagwörter indoor environmental quality ; thermal comfort ; historical buildings ; HVAC ; numerical simulations ; CFD ; Technology ; T ; Engineering (General). Civil engineering (General) ; TA1-2040 ; Biology (General) ; QH301-705.5 ; Physics ; QC1-999 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 690
    Sprache Englisch
    Erscheinungsdatum 2023-02-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

    Volltext online

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  5. Artikel: The effect of explant cut and cytokinin type on micropropagation of fig (Ficus carica L.) 'Brown Turkey'

    Volo, P / J. E. Preece / T. Caruso

    Acta horticulturae. 2017 Oct. 20, , no. 1173

    2017  

    Abstract: This study was conducted to micropropagate 'Brown Turkey' fig, one of the most popular cultivars in California, USA for fresh and dried uses. Nodal segments cut lengthwise or not were cultured on Woody Plant Medium containing 0.3, 1.0 or 3.0 µM of N6 ... ...

    Abstract This study was conducted to micropropagate 'Brown Turkey' fig, one of the most popular cultivars in California, USA for fresh and dried uses. Nodal segments cut lengthwise or not were cultured on Woody Plant Medium containing 0.3, 1.0 or 3.0 µM of N6 benzyladenine (BA) or kinetin in a 3 (concentrations) × 2 (cytokinins) × 2 (explant types) factorial experiment. 60% of explants became contaminated with various microbes when the standard protocol of washing shoots for 3 h under running tap water. Microbial contamination was nearly eliminated when the running water rinse and the use of an ascorbic acid dip were eliminated. Phenolic exudation was not a problem. Shoots grew longer with more leaves when the medium was supplemented with 0.3 µM kinetin that with BA or lower concentration of kinetin. Shoots also rooted at a 47% rate when 3.0 µM kinetin was in the medium. More shoot growth was occurred on explants where the stem was cut in half lengthwise than those not receiving this cut.
    Schlagwörter ascorbic acid ; benzyladenine ; cultivars ; cytokinins ; explants ; exudation ; Ficus carica ; figs ; kinetin ; leaves ; microbial contamination ; microorganisms ; micropropagation ; shoots ; tap water ; washing
    Sprache Englisch
    Erscheinungsverlauf 2017-1020
    Umfang p. 227-230.
    Erscheinungsort International Society for Horticultural Science.
    Dokumenttyp Artikel
    Anmerkung Paper presented at the V International Symposium on Fig held August 31-September 3, 2015 Napoli, Italy
    ISSN 0567-7572
    DOI 10.17660/ActaHortic.2017.1173.39
    Datenquelle NAL Katalog (AGRICOLA)

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  6. Artikel ; Online: Neonatal diagnosis of circumferential skin creases.

    Cauzzo, Chiara / Chiavaroli, Valentina / Palka Bayard de Volo, Chiara / Petrucci, Altea / Topazio, Teresa / Di Donato, Giulia / Fiorentino, Riccardo / Chiarelli, Francesco / Di Valerio, Susanna

    Birth defects research

    2023  Band 115, Heft 12, Seite(n) 1169–1173

    Abstract: Background: Circumferential skin creases is a rare and heterogeneous disorder characterized by multiple and redundant skin folds, which can present as an isolated feature or in association with other phenotypic anomalies. Here, we report the case of a ... ...

    Abstract Background: Circumferential skin creases is a rare and heterogeneous disorder characterized by multiple and redundant skin folds, which can present as an isolated feature or in association with other phenotypic anomalies. Here, we report the case of a newborn who immediately captured our attention because of his phenotype.
    Case: A male Caucasian infant was born at 39 weeks and 4 days of gestational age with an instrumental delivery, after a pregnancy characterized by threat of preterm birth at 32 weeks. Fetal ultrasounds were reported to be normal. The patient was the first child of non-consanguineous parents. Anthropometry at birth: weight 3.590 kg (0.57 SDS); length 53 cm (1.73 SDS); cranial circumference 35.5 cm (0.83 SDS). Clinical examination soon after birth revealed multiple, asymmetric and deep skin folds involving forearms, legs and lower eyelids (right > left). These folds seemed not to cause any physical discomfort. In addition, hypertrichosis, micrognathia, low-set ears and a thin, down-turned border of upper lip were observed. Cardio-respiratory, abdominal and neurological examination was unremarkable. There was no family history of similar appearance or other physical abnormalities. Given the clinical picture, an array-CGH was performed, which was normal. A genetic counseling was requested and Circumferential Skin Creases disorder was diagnosed based on the typical cutaneous involvement and, given the absence of other clinical signs, it was supposed a benign evolution, with skin folds tending to disappear over time. In addition, the baby's DNA was requested for a targeted genetic analysis, which resulted negative.
    Conclusions: This clinical case underlines the need of performing a detailed neonatal physical examination in order to realize a timely diagnostic approach. Our patient presented with multiple skin folds, facial dysmorphism but normal systemic and neurological examination. Anyways, since Circumferential Skin Creases may be associated with later neurological symptoms, a regular reevaluation is recommended.
    Mesh-Begriff(e) Infant, Newborn ; Humans ; Female ; Pregnancy ; Male ; Premature Birth ; Skin ; Abnormalities, Multiple/genetics ; Ultrasonography, Prenatal ; Parturition
    Sprache Englisch
    Erscheinungsdatum 2023-05-24
    Erscheinungsland United States
    Dokumenttyp Case Reports
    ZDB-ID 2104792-3
    ISSN 2472-1727
    ISSN (online) 2472-1727
    DOI 10.1002/bdr2.2187
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: HPV impact on oropharyngeal cancer radiological staging: 7th vs 8th edition of AJCC TNM classification.

    Dal Cin, Elisa / Marcuzzo, Alberto Vito / Degrassi, Ferruccio / Volo, Tiziana / Spinato, Roberto / Politi, Doriano / Capriotti, Vincenzo / Boscolo-Rizzo, Paolo / Tirelli, Giancarlo

    Clinical imaging

    2022  Band 93, Seite(n) 39–45

    Abstract: ... in agreement rates were calculated between radiological and pathological staging for the primary tumor (T) and ... p < 0.01); no significant differences were found when comparing all diagnostic methods for T and N ...

    Abstract Purpose: To evaluate the agreement between pathological and radiological staging in oropharyngeal cancer by comparing the 7th and the 8th edition of the AJCC TNM system.
    Methods: This retrospective cohort study included 57 cases of oropharyngeal cancer with lymph node metastases staged with the 7th and 8th editions of the AJCC TNM system. Comparison between clinical and radiological features and differences in agreement rates were calculated between radiological and pathological staging for the primary tumor (T) and lymph nodes (N) in HPVpos and HPVneg cases.
    Results: Comparison of HPVpos and HPVneg revealed a significantly different distribution between early and advanced stages in the 8 th edition, with a relevant number of HPVpos patients redefined from advanced stages whit the 7 th ed. to early stages with 8 th ed. (p < 0.01); no significant differences were found when comparing all diagnostic methods for T and N.
    Conclusions: The 8th edition of the AJCC TNM seems to lead to better pretreatment staging. For both HPVpos and HPVneg, the agreement between pretreatment radiological and pathological staging.
    Mesh-Begriff(e) Humans ; Neoplasm Staging ; Papillomavirus Infections/diagnostic imaging ; Papillomavirus Infections/pathology ; Retrospective Studies ; Oropharyngeal Neoplasms/diagnostic imaging ; Oropharyngeal Neoplasms/pathology ; Lymph Nodes/diagnostic imaging ; Lymph Nodes/pathology ; Prognosis
    Sprache Englisch
    Erscheinungsdatum 2022-11-03
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1028123-x
    ISSN 1873-4499 ; 0899-7071
    ISSN (online) 1873-4499
    ISSN 0899-7071
    DOI 10.1016/j.clinimag.2022.10.010
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: New trends in rehabilitation of children with ENT disorders.

    Bovo, R / Trevisi, P / Zanoletti, E / Cazzador, D / Volo, T / Emanuelli, E / Martini, A

    Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale

    2017  Band 37, Heft 5, Seite(n) 355–367

    Abstract: In the last 20 years, neonatal survival has progressively increased due to the constant amelioration of neonatal medical treatment and surgical techniques. Thus, the number of children with congenital malformations and severe chronic pathologies who need ...

    Titelübersetzung Aggiornamenti sulla riabilitazione ORL in età pediatrica.
    Abstract In the last 20 years, neonatal survival has progressively increased due to the constant amelioration of neonatal medical treatment and surgical techniques. Thus, the number of children with congenital malformations and severe chronic pathologies who need rehabilitative care has progressively increased. Rehabilitation programs for paediatric patients with disorders of voice, speech and language, communication and hearing, deglutition and breathing are not widely available in hospital settings or in long-term care facilities. In most countries, the number of physicians and technicians is still inadequate; moreover, multidisciplinary teams dedicated to paediatric patients are quite rare. The aim of the present study is to present some new trends in ENT paediatric rehabilitation.
    Mesh-Begriff(e) Child ; Humans ; Otorhinolaryngologic Diseases/rehabilitation ; Rehabilitation/trends
    Sprache Englisch
    Erscheinungsdatum 2017-05-19
    Erscheinungsland Italy
    Dokumenttyp Journal Article ; Review
    ZDB-ID 604898-5
    ISSN 1827-675X ; 0392-100X
    ISSN (online) 1827-675X
    ISSN 0392-100X
    DOI 10.14639/0392-100X-1426
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: Nasopharyngeal thyroid-like low-grade papillary adenocarcinoma.

    Borsetto, D / Cazzador, D / Prosenikliev, V / Zamon, A / Volo, T / Marino, F / Emanuelli, E

    B-ENT

    2016  Band 12, Heft 3, Seite(n) 235–240

    Abstract: Objective: Epistaxis is extremely common in children. Although rare, the presence of an intranasal mass as a cause of bleeding should be ruled out in patients with recurrent or massive epistaxis. We present a patient whose recurrent nose-bleeding had ... ...

    Abstract Objective: Epistaxis is extremely common in children. Although rare, the presence of an intranasal mass as a cause of bleeding should be ruled out in patients with recurrent or massive epistaxis. We present a patient whose recurrent nose-bleeding had been due to a nasopharyngeal mass.
    Methods: Case report with relevant literature review.
    Results: A 15-year-old girl with a history of sudden posterior nasal bleeding was diagnosed with thyroid-like low-grade nasopharyngeal papillary adenocarcinoma of the nasopharynx. A type II nasopharyngeal endoscopic resection was performed with an excellent outcome at 30-months follow-up. The literature review on the topic disclosed only five other paediatric cases, none of which presented with epistaxis.
    Conclusions: Recurrent epistaxis may infer the presence of nasopharyngeal malignant neoplasms, even in children. To our knowledge, this represents the sixth case in the literature of a paediatric low-grade nasopharyngeal adenocarcinoma and the first presenting with massive epistaxis. The possibility of such a finding should be kept in mind when evaluating children with massive epistaxis.
    Mesh-Begriff(e) Adenocarcinoma, Papillary/diagnostic imaging ; Adenocarcinoma, Papillary/pathology ; Adenocarcinoma, Papillary/surgery ; Adolescent ; Epistaxis/etiology ; Female ; Humans ; Nasopharyngeal Neoplasms/diagnostic imaging ; Nasopharyngeal Neoplasms/pathology ; Nasopharyngeal Neoplasms/surgery
    Sprache Englisch
    Erscheinungsdatum 2016
    Erscheinungsland Belgium
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 2188463-8
    ISSN 1781-782X ; 0001-6497
    ISSN 1781-782X ; 0001-6497
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel: Giant Epidermoid Cyst of Posterior Fossa-Our Experience and Literature Review.

    Spinato, Giacomo / Gaudioso, Piergiorgio / Falcioni, Maurizio / Mosto, Maria Cristina Da / Cocuzza, Salvatore / Maniaci, Antonino / Fabbris, Cristoforo / Politi, Doriano / Volo, Tiziana / Ferri, Emanuele / Cristalli, Giovanni / Mannelli, Lorenzo / Salvatore, Marco / Rizzo, Paolo Boscolo / Frezza, Daniele

    Dose-response : a publication of International Hormesis Society

    2021  Band 19, Heft 1, Seite(n) 15593258211002061

    Abstract: Introduction: Intracranial epidermoid cysts are the most frequent congenital intracranial lesion. They rare and benign tumors that can present in different clinical situations depending on location and extension of the disease. Diagnosis is obtained ... ...

    Abstract Introduction: Intracranial epidermoid cysts are the most frequent congenital intracranial lesion. They rare and benign tumors that can present in different clinical situations depending on location and extension of the disease. Diagnosis is obtained with radiological imaging with RM and non-enhanced TC as elective investigating methods. Elective treatment is surgery, based on total/subtotal excision sparring healthy neurovascular structures, considering the benign nature of this lesion.
    Case report: In this study we present the case of a 79-year-old woman affected by recidivist epidermal cyst of the posterior fossa. Clinical presentation was characterized by positional subjective vertigo, intense headache localized in the right part of the head increased by Valsalva maneuver and retroarticular subcutaneous swelling. Radiological investigation found a giant epidemoid cyst of the posterior fossa (8,4 x 4,8 x 5,8 cm), treated with surgery. In the postoperative, the patient was fine and no neurological deficit has been encounterd.
    Review: In this study, we present a review of the literature regarding giant epidermoid cysts of posterior fossa. Only 11 cases were reported before ours, which actually is one of the largest ever described.
    Sprache Englisch
    Erscheinungsdatum 2021-03-24
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2440820-7
    ISSN 1559-3258 ; 1559-3258
    ISSN (online) 1559-3258
    ISSN 1559-3258
    DOI 10.1177/15593258211002061
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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