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K P Wolffenbuttel, R Hersmus, H Stoop, K Biermann, P Hoebeke, M Cools, L H J Looijenga
Recent studies on gonadal histology have improved the understanding of germ cell malignancy risk in patients with disorders of sex development (DSD), and evidence-based gonadal management strategies are gradually emerging. Especially in 46,XY DSD and 45,X/46,XY DSD, which are characterized by gonadal dysgenesis, the risk of germ cell malignancy is significantly increased. This paper summarized the progress over the past 10 years in malignancy risk assessment in patients with DSD, and its implications for optimal surgical handling of the involved gonads...
October 8, 2016: Journal of Pediatric Urology
Mohammad-Ali Yazdani Abyaneh, Peter Engel, Andrzej Slominski, Bruce Ragsdale, Richard Agag, Daniel Cramer, J Andrew Carlson
BACKGROUND: Giant basal cell carcinomas (GBCCs), (BCC ≥ 5 cm), are often painless, destructive tumors resulting from poorly understood patient neglect. OBJECTIVES: To elucidate etiopathogenic factors distinguishing GBCC from basal cell carcinoma (BCC) and identify predictors for disease-specific death (DSD). METHODS: Case-control study examining clinicopathologic and neuroactive factors (β-endorphin, met-enkephalin, serotonin, adrenocorticotropic hormone, and neurofilament expression) in GBCC and BCC...
October 18, 2016: American Journal of Dermatopathology
Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Richard Quinton, Yaasir Mamoojee, Channa N Jayasena, Jacques Young, Sasha Howard, Leo Dunkel, Tim Cheetham, Neil Smith, Andrew A Dwyer
The recent Society for Endocrinology (SFE) UK Guidance on the Initial Evaluation of an Infant or an Adolescent with a Suspected Disorder of Sex Development (DSD) provides invaluable advice for clinicians treating affected patients (Ahmed, et al., 2016). Such reports are key to synthesizing evidence, sharing expert opinion and emphasizing the importance of supporting patients and families with rare disorders within the context of a multidisciplinary approach. This article is protected by copyright. All rights reserved...
October 17, 2016: Clinical Endocrinology
Indrajith D Nissanka, Poojitha D Yapa
The ability to calculate the oil droplet size distribution (DSD) and its dynamic behavior in the water column is important in oil spill modeling. Breaking waves disperse oil from a surface slick into the water column as droplets of varying sizes. Oil droplets undergo further breakup and coalescence in the water column due to the turbulence. Available models simulate oil DSD based on empirical/equilibrium equations. However, the oil DSD evolution due to subsequent droplet breakup and coalescence in the water column can be best represented by a dynamic population model...
October 10, 2016: Marine Pollution Bulletin
Remko Hersmus, Yolande van Bever, Katja P Wolffenbuttel, Katharina Biermann, Martine Cools, Leendert H J Looijenga
Development of a malignant germ cell tumor, i.e., germ cell cancer (GCC) in individuals with disorders of sex development (DSD) depends on a number of (epi-)genetic factors related to early gonadal- and germ cell development, possibly related to genetic susceptibility. Fetal development of germ cells is orchestrated by strict processes involving specification, migration and the development of a proper gonadal niche. In this review we will discuss the early (epi-)genetic events in normal and aberrant germ cell and gonadal development...
October 7, 2016: Clinical Genetics
James Peek, Joseph Roman, Graham R Moran, Dinesh Christendat
Quinate and shikimate can be degraded by a number of microbes. Dehydroshikimate dehydratases (DSDs) play a central role in this process, catalyzing the conversion of 3-dehydroshikimate to protocatechuate, a common intermediate of aromatic degradation pathways. DSDs have applications in metabolic engineering for the production of valuable protocatechuate-derived molecules. Although a number of Gram-negative bacteria are known to catabolize quinate and shikimate, only limited information exists on the quinate/shikimate catabolic enzymes found in these organisms...
October 5, 2016: Molecular Microbiology
Victoria Tchaikovski, Jean-Michel Gracies, Emilie Hutin, Nicolas Bayle, Caroline Radot
OBJECTIVE: Micrographia and bradygraphia are classic features of Parkinson's disease (PD). However, the relevance of quantifying them in the clinical exam with pen and paper is unclear. MATERIALS/PATIENTS AND METHODS: Twenty-five patients with PD (72±8 years, 8F; time since diagnosis 9.8±5.1 years; Hoehn and Yahr 2.5±0.6) and 26 age-matched healthy controls (HC, 71±16years, 8F) wrote three times the same standard sentence in the OFF state. We measured changes from sentence 1 (S1) to sentence 3 (S3), in writing speed (WS), sentence length (SL), heights of first and last Ps (H1P, H3P), mean inter-words interval (IWI) and ratio total inter-word interval/sentence length (TIWI/SL)...
September 2016: Annals of Physical and Rehabilitation Medicine
Charles Joussain, Jonathan Levy, Audrey Charlanes, Alexia Even, Laetitia Falcou, Emmanuel Chartier-Kastler, Pierre Denys
OBJECTIVE: Hereditary spastic paraplegia (HSP) represents a clinically and genetically heterogeneous group of neurodegenerative diseases, with a worldwide estimated prevalence of 1.3/100,000 [1]. The "pure" form of HSP is a characterized by a progressive spastic paraplegia, often associated with lower urinary tract symptoms (LUTS) (72.4% to 77.6%) [2,3]. However, urologic complications are rarely reported. The aim of this study was to characterize clinical and urodynamic aspects of LUTS following HSP, and to describe treatment and urological complications of LUTS in a large series of HSP patients...
September 2016: Annals of Physical and Rehabilitation Medicine
Rose Khavari, Christof Karmonik, Michael Shy, Sophie Fletcher, Timothy Boone
PURPOSE: Neurogenic Lower Urinary Tract Dysfunction (NLUTD) is common in multiple sclerosis (MS) patients with a significant impact on their quality of life. In this study, we seek to discover brain activity processes during the micturition cycle in female patients with MS and NLUTD. MATERIALS AND METHODS: We report brain activity via functional magnetic resonance imaging (fMRI) and simultaneous urodynamic testing (UDS) in twenty-three ambulatory female patients with MS...
September 21, 2016: Journal of Urology
Alessandro Morandi, Daniel Davis, Giuseppe Bellelli, Rakesh C Arora, Gideon A Caplan, Barbara Kamholz, Ann Kolanowski, Donna Marie Fick, Stefan Kreisel, Alasdair MacLullich, David Meagher, Karen Neufeld, Pratik P Pandharipande, Sarah Richardson, Arjen J C Slooter, John P Taylor, Christine Thomas, Zoë Tieges, Andrew Teodorczuk, Philippe Voyer, James L Rudolph
Delirium occurring in patients with dementia is referred to as delirium superimposed on dementia (DSD). People who are older with dementia and who are institutionalized are at increased risk of developing delirium when hospitalized. In addition, their prior cognitive impairment makes detecting their delirium a challenge. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition and the International Statistical Classification of Diseases and Related Health Problems, 10th Revision are considered the standard reference for the diagnosis of delirium and include criteria of impairments in cognitive processes such as attention, additional cognitive disturbances, or altered level of arousal...
September 16, 2016: Journal of the American Medical Directors Association
Inas A Mazen
This article reviews the literature on intersexuality (disorders of sex development [DSD]) and transsexuality in Egypt. Egypt's resources for the diagnosis and treatment of rare conditions, such as DSD and transsexualism, are quite limited. The birth of a child with a DSD is likely to be stressful, especially in regard to decisions on gender assignment, and genital abnormalities are associated with stigma and shame. Gender assignment may be biased toward the male gender, because female infertility precludes marriage and female gender adversely affects employment prospects and inheritance...
September 20, 2016: Archives of Sexual Behavior
Angela Ann Joseph, Bindu Kulshreshtha, Iram Shabir, Eunice Marumudi, Tony Sam George, Rajesh Sagar, Manju Mehta, Ariachery C Ammini
Children with disorders of sex development (DSD) manifest at birth with malformed genitalia or later with atypical pubertal development. Those born with malformed genitalia are often diagnosed at birth. However, in resource-poor countries like India, where not all births are supervised by healthcare workers, some of these children remain undiagnosed until puberty or even later. The aim of this study was to assess the gender issues and psychosocial problems of children with DSD. Participants included 205 children with DSD (103 with 46,XX DSD and 102 with 46,XY DSD)...
September 20, 2016: Archives of Sexual Behavior
C Hofstaetter, L Raio
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Swapnil Sharadkumar Chudiwal, Mohamed Hassan G Dehghan
The objective of the present study was to design and develop drug-device combination product in particular flunisolide nasal spray using quality by design (QbD) approach. Quality target product profile (QTPP) of flunisolide nasal spray was defined and critical quality attributes (CQAs) i.e. viscosity (cp) (Y1) and D50 DSD (µm) (Y2) were identified. Potential risk factors were identified using a fish bone diagram and failure mode effect analysis (FMEA) tools. Plackett Burman and Box Behnken design were used for screening the significant factors and optimizing the variables range respectively...
September 10, 2016: Pharmaceutical Development and Technology
Maki Igarashi, Kei Takasawa, Akiko Hakoda, Junko Kanno, Shuji Takada, Mami Miyado, Takashi Baba, Ken-Ichirou Morohashi, Toshihiro Tajima, Kenichiro Hata, Kazuhiko Nakabayashi, Yoichi Matsubara, Ryohei Sekido, Tsutomu Ogata, Kenichi Kashimada, Maki Fukami
The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with 46,XX testicular/ovotesticular DSD. The p.Arg92Trp mutation was absent from the clinically normal mothers and from 200 unaffected Japanese individuals...
September 9, 2016: Human Mutation
Agnethe Berglund, Trine H Johannsen, Kirstine Stochholm, Mette H Viuff, Jens Fedder, Katharina M Main, Claus H Gravholt
CONTEXT: The prevalence of phenotypic females with a 46,XY karyotype is low, thus current knowledge about age and clinical presentation at diagnosis is sparse even for the most frequent conditions, androgen insensitivity syndrome (AIS) and gonadal dysgenesis (GD). OBJECTIVE: To estimate incidence, prevalence, age at diagnosis and clinical presentation at diagnosis in 46,XY females. DESIGN AND SETTING: A nationwide study covering all known females with a 46,XY karyotype in Denmark since 1960...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
Gabriella Gazdagh, Edward S Tobias, S Faisal Ahmed, Ruth McGowan
A range of phenotypes that are associated with disorders of sex development (DSD) may also be encountered in patients with neurodevelopmental delay. In this study we have undertaken a collaborative retrospective review of anonymised phenotypic and genotypic data from the UK-wide Deciphering Developmental Disorders (DDD) study. Our objectives were to determine the frequency and range of DSD phenotypes observed in participants in the DDD study and to identify novel genetic associations. We found that of 7,439 DDD participants, 603 (8%) had at least one genital abnormality...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Amy B Wisniewski
PURPOSE OF REVIEW: Historically, studies of caregivers of children with disorders of sex development (DSD) have been limited. RECENT FINDINGS: Recent data reveal that parents of young children with DSD report increased stress, anxiety, depression, and decreased quality of life in ways that are similar to parents of children with other types of chronic illnesses. Also similar to other chronic illnesses of childhood, parents of children with DSD exhibit overprotective parenting and perceive their child as being vulnerable...
August 31, 2016: Current Opinion in Urology
N C Hornig, M Ukat, H U Schweikert, O Hiort, R Werner, S L S Drop, M Cools, I A Hughes, L Audi, S F Ahmed, J Demiri, P Rodens, L Worch, G Wehner, A E Kulle, D Dunstheimer, E Müller-Roßberg, T Reinehr, A T Hadidi, A K Eckstein, C van der Horst, C Seif, R Siebert, O Ammerpohl, P-M Holterhus
CONTEXT: Only about 85% of patients with clinical diagnosis complete androgen insensitivity syndrome (CAIS) and less than 30% with partial androgen insensitivity syndrome (PAIS) can be explained by inactivating mutations in the androgen receptor (AR) gene. OBJECTIVE: To clarify this discrepancy by in-vitro determination of AR transcriptional activity in individuals with disorders of sex development (DSD) and male controls. DESIGN: Quantification of dihydrotestosterone (DHT)-dependent transcriptional induction of the AR target gene apolipoprotein D (APOD) in cultured genital fibroblasts (GF) (APOD-assay) and next generation sequencing (NGS) of the complete coding - and non-coding AR-locus...
September 1, 2016: Journal of Clinical Endocrinology and Metabolism
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