Database : MEDLINE
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[PMID]: 28934713
[Au] Autor:Cacciatore F; Boscolo Brusà R; Noventa S; Antonini C; Moschino V; Formalewicz M; Gion C; Berto D; Gabellini M; Marin MG
[Ad] Address:ISPRA - Institute for Environmental Protection and Research, Loc. Brondolo, 30015 Chioggia, Italy. Electronic address: federica.cacciatore@isprambiente.it.
[Ti] Title:Imposex levels and butyltin compounds (BTs) in Hexaplex trunculus (Linnaeus, 1758) from the northern Adriatic Sea (Italy): Ecological risk assessment before and after the ban.
[So] Source:Ecotoxicol Environ Saf;147:688-698, 2018 Jan.
[Is] ISSN:1090-2414
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The aim of this study was to compare imposex and butyltin compounds (BTs) data, collected before and after the organotin ban in 2008, in order to assess temporal and spatial variation of the phenomenon, the decline of BT contamination, and the effects on Hexaplex trunculus population in the coastal area of the northern Adriatic Sea, close to the Venice Lagoon. Both in marine and in lagoon sites, the results obtained in 2013-2015 showed a significant decline in the incidence of imposex in respect to those from the 2002 survey. In 2002, lagoon samples exhibited Relative Penis Size Index (RPSI) higher than marine samples, whereas no differences were detected in the recent survey, when all RPSI values were below 0.6%. Vas Deference Sequence Index (VDSI) mean values were over 4 before the ban introduction and below this value after that, indicating more critical conditions for gastropod population in 2002 rather than in 2013-15. Percentage of sterile females was up to 69% in 2002, whilst in the more recent survey no sterile female was found. Range of BT concentrations in gastropods decreased from 252 to 579 to 16-31ng∑BT/g d.w. BT body burdens varied according to a gender dependant pattern, with higher concentrations observed in females than in males. A first attempt to propose a classification based on BT impact on H. trunculus, according to the Water Framework Directive, revealed that most sites were in Bad ecological status before the ban and attained a Poor/Moderate status after that.
[Mh] MeSH terms primary: Disorders of Sex Development/chemically induced
Environmental Monitoring/methods
Gastropoda/drug effects
Trialkyltin Compounds/toxicity
Water Pollutants, Chemical/toxicity
[Mh] MeSH terms secundary: Animals
Body Burden
Female
Gastropoda/metabolism
Italy
Male
Mediterranean Sea
Risk Assessment
Seawater/chemistry
Trialkyltin Compounds/metabolism
Water Pollutants, Chemical/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Trialkyltin Compounds); 0 (Water Pollutants, Chemical); 4XDX163P3D (tributyltin)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170922
[St] Status:MEDLINE

  2 / 40821 MEDLINE  
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[PMID]: 28456808
[Au] Autor:Batista RL; Rodrigues AS; Nishi MY; Feitosa ACR; Gomes NLRA; Junior JAF; Domenice S; Costa EMF; de Mendonça BB
[Ad] Address:Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Laboratório de Hormônios e Genética Molecular (LIM/42), Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
[Ti] Title:Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.
[So] Source:Sex Dev;11(2):78-81, 2017.
[Is] ISSN:1661-5433
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. This is the first report of a female patient with 47,XXY karyotype and PAIS phenotype.
[Mh] MeSH terms primary: Androgen-Insensitivity Syndrome/genetics
Codon, Nonsense/genetics
Genetic Predisposition to Disease
Karyotype
Mutation/genetics
Receptors, Androgen/genetics
[Mh] MeSH terms secundary: Base Sequence
Exons/genetics
Female
Heterozygote
Homozygote
Humans
Male
Microsatellite Repeats/genetics
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (AR protein, human); 0 (Codon, Nonsense); 0 (Receptors, Androgen)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170501
[St] Status:MEDLINE
[do] DOI:10.1159/000468957

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[PMID]: 29518772
[Au] Autor:Çakmakli S; Çankaya T; Gürsoy S; Koç A; Kirbiyik Ö; Kiliçarslan ÖA; Özer E; Erçal D; Bozkaya ÖG
[Ad] Address:Department of Medical Genetics, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
[Ti] Title:Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
[So] Source:Cytogenet Genome Res;, 2018 Mar 09.
[Is] ISSN:1424-859X
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1159/000486775

  4 / 40821 MEDLINE  
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[PMID]: 29503125
[Au] Autor:Witchel SF
[Ad] Address:Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: witchelsf@upmc.edu.
[Ti] Title:Disorders of sex development.
[So] Source:Best Pract Res Clin Obstet Gynaecol;, 2017 Nov 22.
[Is] ISSN:1532-1932
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of molecular events that lead to male sex development. Disorders of sex development comprise a heterogeneous group of congenital conditions associated with atypical development of internal and external genitalia. These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. Genetic tools such as microarray analyses and next-generation sequencing techniques have identified novel genetic variants among patients with disorders of sexual development. Most importantly, patient management needs to be individualized, especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  5 / 40821 MEDLINE  
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[PMID]: 29506436
[Au] Autor:Gomes SIL; Roca CP; Pegoraro N; Trindade T; Scott-Fordsmand JJ; Amorim MJB
[Ad] Address:a Department of Biology & CESAM , University of Aveiro , Aveiro , Portugal.
[Ti] Title:High-throughput tool to discriminate effects of NMs (Cu-NPs, Cu-nanowires, CuNO , and Cu salt aged): transcriptomics in Enchytraeus crypticus.
[So] Source:Nanotoxicology;:1-16, 2018 Mar 05.
[Is] ISSN:1743-5404
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The current testing of nanomaterials (NMs) via standard toxicity tests does not cover many of the NMs specificities. One of the recommendations lays on understanding the mechanisms of action, as these can help predicting long-term effects and safe-by-design production. In the present study, we used the high-throughput gene expression tool, developed for Enchytraeus crypticus (4 × 44k Agilent microarray), to study the effects of exposure to several copper (Cu) forms. The Cu treatments included two NMs (spherical and wires) and two copper-salt treatments (CuNO spiked and Cu salt field historical contamination). To relate gene expression with higher effect level, testing was done with reproduction effect concentrations (EC , EC ), using 3 and 7 days as exposure periods. Results showed that time plays a major role in the transcriptomic response, most of it occurring after 3 days. Analysis of gene expression profiles showed that Cu-salt-aged and Cu-nanowires (Nwires) differed from CuNO and Cu-nanoparticles (NPs). Functional analysis revealed specific mechanisms: Cu-NPs uniquely affected senescence and cuticle pattern formation, which can result from the contact of the NPs with the worms' tegument. Cu-Nwires affected reproduction via male gamete generation and hermaphrodite genitalia development. CuNO affected neurotransmission and locomotory behavior, both of which can be related with avoidance response. Cu salt-aged uniquely affected phagocytosis and reproductive system development (via different mechanisms than Cu-Nwires). For the first time for Cu (nano)materials, the adverse outcome pathways (AOPs) drafted here provide an overview for common and unique effects per material and linkage with apical effects.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1080/17435390.2018.1446559

  6 / 40821 MEDLINE  
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[PMID]: 29473390
[Au] Autor:Filippo M; Bizzotto L; Curti P; Porcaro AB; Artibani W
[Ti] Title:An unusual case of pneumatic nail gun scrotal injury and revision of the literature.
[So] Source:Arch Ital Urol Androl;89(4):325-326, 2017 12 31.
[Is] ISSN:1124-3562
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract:Pneumatic nail guns are hand-held tools commonly utilized in both industrial and non occupational setting. These devices facilitate production and boost efficiency but also can be a potential cause of serious injuries. Nail guns are the most frequent tool associated trauma with hospitalization among construction workers. The most common sites of injuries are the hand or fingers followed by the lower extremities. We report the first case in literature of a work nail gun injury to male external genitalia.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.4081/aiua.2017.4.325

  7 / 40821 MEDLINE  
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[PMID]: 29461295
[Au] Autor:Hersant B; Jabbour S; Noel W; Benadiba L; La Padula S; SidAhmed-Mezi M; Meningaud JP
[Ti] Title:Labia Majora Augmentation Combined With Minimal Labia Minora Resection: A Safe and Global Approach to the External Female Genitalia.
[So] Source:Ann Plast Surg;80(4):323-327, 2018 Apr.
[Is] ISSN:1536-3708
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: All the labia minora reduction techniques fail to treat the other component of the abnormally increased labia minora to majora ratio: the labia majora atrophy. The purpose of this study is to describe a technique of female genitalia beautification, which combines labia majora augmentation and conservative labia minora reduction. METHODS: The hypertrophied labia minora were first treated by a conservative inferior wedge excision with a superior flap. The conservative excision was done to obtain labia minora that would still protrude beyond the labia majora because it will be masked by the augmentation of the labia majora. Labia majora augmentation was done by autologous fat transplantation. The newly augmented labia majora completely masked the conservatively reduced labia minora. RESULTS: Twenty-one patients underwent surgery for labia majora augmentation and labia minora reduction. One patient (4.7%) had a small separation of the labial edge postoperatively that resolved with no additional interventions. There was no flap necrosis or infections. No patient reported pain or sexual dysfunction. Seventeen patients (81%) were satisfied or very satisfied with their results. CONCLUSIONS: Labia majora augmentation combined with a conservative labia minora reduction is an appealing procedure because it enhances the global aspect of the female genitalia while reducing the labioplasty complications.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1097/SAP.0000000000001435

  8 / 40821 MEDLINE  
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[PMID]: 29478852
[Au] Autor:Tingler M; Kurz S; Maerker M; Ott T; Fuhl F; Schweickert A; LeBlanc-Straceski JM; Noselli S; Blum M
[Ad] Address:University of Hohenheim, Institute of Zoology, Garbenstrasse 30, 70593 Stuttgart, Germany.
[Ti] Title:A Conserved Role of the Unconventional Myosin 1d in Laterality Determination.
[So] Source:Curr Biol;28(5):810-816.e3, 2018 Mar 05.
[Is] ISSN:1879-0445
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Anatomical and functional asymmetries are widespread in the animal kingdom [1, 2]. In vertebrates, many visceral organs are asymmetrically placed [3]. In snails, shells and inner organs coil asymmetrically, and in Drosophila, genitalia and hindgut undergo a chiral rotation during development. The evolutionary origin of these asymmetries remains an open question [1]. Nodal signaling is widely used [4], and many, but not all, vertebrates use cilia for symmetry breaking [5]. In Drosophila, which lacks both cilia and Nodal, the unconventional myosin ID (myo1d) gene controls dextral rotation of chiral organs [6, 7]. Here, we studied the role of myo1d in left-right (LR) axis formation in Xenopus. Morpholino oligomer-mediated myo1d downregulation affected organ placement in >50% of morphant tadpoles. Induction of the left-asymmetric Nodal cascade was aberrant in >70% of cases. Expression of the flow-target gene dand5 was compromised, as was flow itself, due to shorter, fewer, and non-polarized cilia at the LR organizer. Additional phenotypes pinpointed Wnt/planar cell polarity signaling and suggested that myo1d, like in Drosophila [8], acted in the context of the planar cell polarity pathway. Indeed, convergent extension of gastrula explant cultures was inhibited in myo1d morphants, and the ATF2 reporter gene for non-canonical Wnt signaling was downregulated. Finally, genetic interference experiments demonstrated a functional interaction between the core planar cell polarity signaling gene vangl2 and myo1d in LR axis formation. Thus, our data identified myo1d as a common denominator of arthropod and chordate asymmetry, in agreement with a monophyletic origin of animal asymmetry.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review

  9 / 40821 MEDLINE  
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[PMID]: 29424354
[Au] Autor:Novotny L; Sharaf L; Abdel-Hamid ME; Brtko J
[Ad] Address:Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Kuwait University, Kuwait City, Kuwait. novotny@hsc.edu.kw.
[Ti] Title:Stability studies of endocrine disrupting tributyltin and triphenyltin compounds in an artificial sea water model.
[So] Source:Gen Physiol Biophys;37(1):93-99, 2018 Jan.
[Is] ISSN:0231-5882
[Cp] Country of publication:Slovakia
[La] Language:eng
[Ab] Abstract:Triorganotins belong to toxic components present predominantly in antifouling paints for marine vessels. Tributyltin/triphenyltin at pico- or nanomolar concentrations in sea water are known to induce an irreversible sexual abnormality in females of over 190 marine species, an "imposex" phenomenon - the superimposition of male genitalia on a female. Moreover, trialkyltins and triaryltins function as potent nuclear retinoid X receptors (RXR) agonists. In mammals, triorganotin compounds induce immunosuppressive, metabolic, reproductive or developmental effects. Toxic effects of triorganotins warrant the need for monitoring of their long-lasting presence in the environment. This study brings novel data on the stability of two triorganotin compounds in artificial sea water model obtained by applying ultra-pressure liquid chromatography (UPLC) and gas chromatography-mass spectrometry (GC-MS) methods. Stability of tributyltin and triphenyltin chlorides was studied for 180 days and the degradation kinetic parameters were obtained. Tributyltin chloride was the less stable with the degradation kinetic parameters Kdeg = 0.00014 day-1 and t1/2 = 4950 days (13.6 years). Kdeg of the more stable triphenyltin chloride was determined to be Kdeg = 0.00006 day-1 with t1/2 = 11550 days (31.6 years). Since similar stability data of triorganotin compounds were not published previously, we report high stability for both tested compounds, which indicates a significant environmental problem when these substances enter sea water and later coastal sediments.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.4149/gpb_2017051

  10 / 40821 MEDLINE  
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[PMID]: 29489080
[Au] Autor:Kelemen H; Orgovan G; Szekely-Szentmiklosi B
[Ti] Title:Not available. [The pharmaceutical chemistry of azole antifungals.]
[So] Source:Acta Pharm Hung;86(3):85-98, 2016.
[Is] ISSN:0001-6659
[Cp] Country of publication:Hungary
[La] Language:hun
[Ab] Abstract:Azole antifungals are a group of compounds that play essential rule in the treatment of surface and deep mycoses. They can be used externally to treat fungal infections of skin, mucous membranes and external genitalia but they are also suitable for oral treatment of systemic mycoses. Structurally they are classified into two groups: imidazoles and triazoles. Triazole antimycotics have wider spectrum of activity, favorable pharmacokinetics, they are of milder side effects and sofar less developed anti-fungal resistance. This paper provides an overview on the history, synthe- sis, physico-chemical properties, structure-activity relationships of azole antifungals but it also deals with their pharmacological properties and mechanism of action.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Process


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