Read by QxMD icon Read


Neelam N Redkar, Udit Saraf, Rajit Pillai, Kavita J RawatAssociate Professor In General Medicine Seth G S Medical College And K E M H Mumbai Maharashtra
No abstract text is available yet for this article.
October 2016: Journal of the Association of Physicians of India
Yukinori Endo, Hiroko Ishiwata-Endo, Kenneth M Yamada
Anosmin is an extracellular matrix protein, and genetic defects in anosmin result in human Kallmann syndrome. It functions in neural crest formation, cell adhesion, and neuronal migration. Anosmin consists of multiple domains, and it has been reported to bind heparan sulfate, FGF receptor, and UPA. In this study, we establish cell adhesion/spreading assays for anosmin and use them for antibody inhibition analyses to search for an integrin adhesion receptor. We find that α5β1, α4β1, and α9β1 integrins are needed for effective adhesive receptor function in cell adhesion and cell spreading on anosmin; adhesion is inhibited by both RGD and α4β1 CS1-based peptides...
August 9, 2016: Cell Adhesion & Migration
Nader Salama
BACKGROUND: Kallmann syndrome (Kal S) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. Depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. In the present report, we describe a male with Kal S associated with hearing loss, and the successful treatment of his sexual and reproductive defects. CASE: A 23-year-old Caucasian man presented with a lifelong lack of erection and ejaculation...
August 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
Luigi Maione, Sylvie Brailly-Tabard, Jérôme Nevoux, Jérôme Bouligand, Jacques Young
No abstract text is available yet for this article.
September 12, 2016: Clinical Endocrinology
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, I Menendez, I Loclar, G Sennaroglu, S Tokgoz-Yilmaz, S Guo, Y Olgun, N Mahdieh, M Bonyadi, N Bozan, A Ayral, F Ozkinay, M Yildirim-Baylan, S H Blanton, M Tekin
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D)...
2016: Scientific Reports
Roy I Pinhassi, Dan Kallmann, Gadiel Saper, Hen Dotan, Artyom Linkov, Asaf Kay, Varda Liveanu, Gadi Schuster, Noam Adir, Avner Rothschild
Photoelectrochemical water splitting uses solar power to decompose water to hydrogen and oxygen. Here we show how the photocatalytic activity of thylakoid membranes leads to overall water splitting in a bio-photo-electro-chemical (BPEC) cell via a simple process. Thylakoids extracted from spinach are introduced into a BPEC cell containing buffer solution with ferricyanide. Upon solar-simulated illumination, water oxidation takes place and electrons are shuttled by the ferri/ferrocyanide redox couple from the thylakoids to a transparent electrode serving as the anode, yielding a photocurrent density of 0...
2016: Nature Communications
Samuel D Quaynor, Maggie E Bosley, Christina G Duckworth, Kelsey R Porter, Soo-Hyun Kim, Hyung-Goo Kim, Lynn P Chorich, Megan E Sullivan, Jeong-Hyeon Choi, Richard S Cameron, Lawrence C Layman
The genetic basis is unknown for ∼60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from (17 male and 31 female) nHH/KS patients were analyzed by targeted next generation sequencing (NGS) of 261 genes involved in hypothalamic, pituitary, and/or olfactory pathways, or suggested by chromosome rearrangements. Selected variants were subjected to Sanger DNA sequencing, the gold standard. The frequency of Sanger-confirmed variants was determined using the ExAC database. Variants were classified as likely pathogenic (frameshift, nonsense, and splice site) or predicted pathogenic (nonsynonymous missense)...
December 5, 2016: Molecular and Cellular Endocrinology
Stephen Pow, Frank W Stahnisch
No abstract text is available yet for this article.
July 19, 2016: Journal of Neurology
Stephen Pow, Frank W Stahnisch
Biological psychiatry in the early twentieth century was based on interrelated disciplines, such as neurology and experimental biology. Neuropsychiatrist Franz Josef Kallmann (1897-1965) was a product of this interdisciplinary background who showed an ability to adapt to different scientific contexts, first in the field of neuromorphology in Berlin, and later in New York. Nonetheless, having innovative ideas, as Kallmann did, could be an ambiguous advantage, since they could lead to incommensurable scientific views and marginalization in existing research programs...
July 2016: Journal of the History of the Neurosciences
Luca Massimi, Alessandro Izzo, Giovanna Paternoster, Paolo Frassanito, Concezio Di Rocco
BACKGROUND: Kallmann syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia. It is characterized by a significant clinical and genetic heterogeneity; actually, it may present several non-reproductive non-olfactory anomalies, and all the ways of genetic transmission can be involved in the inheritance of the disease. Although six pathogenesis-related genes have been identified so far, KS remains sporadic in 70 % of the cases, and the genetic diagnosis is not available for all of them...
September 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Courtney E Stewart, Kristina M Corella, Brittany D Samberg, Paula T Jones, Megan L Linscott, Wilson C J Chung
Our previous studies showed that Fgf8 mutations can cause Kallmann syndrome (KS), a form of congenital hypogonadotropic hypogonadism, in which patients do not undergo puberty and are infertile. Interestingly, some KS patients also have agenesis of the corpus callosum (ACC) suggesting that KS pathology is not limited to reproductive function. Here, we asked whether FGF8 dysfunction is the underlying cause of ACC in some KS patients. Indeed, early studies in transgenic mice with Fgf8 mutations reported the presence of failed or incomplete corpus callosum formation...
September 1, 2016: Brain Research
Verónica Murcia-Belmonte, Verónica Astillero-López, Pedro F Esteban
Sexual maturation and olfactory bulb defects found in prokineticin 2 (Pk2) and prokineticin receptor 2 (Pkr2) mutant mice resembling the phenotypic characteristics of Kallmann syndrome (KS), gave rise to the question of whether these genes would have a role in KS pathogenesis. Later, mutations in both genes were identified in patients suffering from KS. The gene responsible for the Xlinked form of KS, ANOS1, encodes the ECM protein anosmin 1. Among other functions, anosmin 1 can regulate the activity of FGFR1, encoded by one of the genes involved in the autosomal transmission of KS...
2016: Protein and Peptide Letters
Constantinos Pangalos, Birgitta Hagnefelt, Konstantinos Lilakos, Christopher Konialis
Background. Fetal malformations and other structural abnormalities are relatively frequent findings in the course of routine prenatal ultrasonographic examination. Due to their considerable genetic and clinical heterogeneity, the underlying genetic cause is often elusive and the resulting inability to provide a precise diagnosis precludes proper reproductive and fetal risk assessment. We report the development and first applications of an expanded exome sequencing-based test, coupled to a bioinformatics-driven prioritization algorithm, targeting gene disorders presenting with abnormal prenatal ultrasound findings...
2016: PeerJ
Carlos A Benbassat
Kallmann syndrome is named after Franz Joseph Kallmann, a German-born psychiatrist who described in 1944 twelve subjects from three families who presented with a syndrome of missed puberty, anosmia, and color blindness. Yet, several other eponyms for the same syndrome can be found in the literature. Despite the fact that Kallmann syndrome is the most recognized eponym, very little is known about the man for whom the syndrome is named. A biographical note on Franz Joseph Kallmann and his historical context is presented...
2016: Rambam Maimonides Medical Journal
Carlo Camporesi, Marcelo Kallmann
Thanks to recent advances on motion capture devices and stereoscopic consumer displays, animated virtual characters can now realistically interact with users in a variety of applications. We investigate in this paper the effect of avatars, stereo vision and display size on task execution in immersive virtual environments. We report results obtained with three experiments in varied configurations that are commonly used in rehabilitation applications. The first experiment analyzes the accuracy of reaching tasks under different system configurations: with and without an avatar, with and without stereo vision, and employing a 2D desktop monitor versus a large multi-tile visualization display...
May 2016: IEEE Transactions on Visualization and Computer Graphics
Yazhou Huang, Marcelo Kallmann
In order to deliver information effectively, virtual human demonstrators must be able to address complex spatial constraints and at the same time replicate motion coordination patterns observed in human-human interactions. We introduce in this paper a whole-body motion planning and synthesis framework that coordinates locomotion, body positioning, action execution and gaze behavior for generic demonstration tasks among obstacles. Human-like solutions are achieved with a coordination model extracted from experiments with human subjects...
May 2016: IEEE Transactions on Visualization and Computer Graphics
B Ian Hutchins, L Damla Kotan, Carol Taylor-Burds, Yusuf Ozkan, Paul J Cheng, Fatih Gurbuz, Jean D R Tiong, Eda Mengen, Bilgin Yuksel, A Kemal Topaloglu, Susan Wray
The first mutation in a gene associated with a neuronal migration disorder was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from a defect in the development of the GnRH and the olfactory system. A recent genetic screening of Kallmann Syndrome patients revealed a novel mutation in CCDC141. Little is known about CCDC141, which encodes a coiled-coil domain containing protein. Here, we show that Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration...
May 2016: Endocrinology
Christina Spilker, Sven Nullmeier, Katarzyna M Grochowska, Anne Schumacher, Ioana Butnaru, Tamar Macharadze, Guilherme M Gomes, PingAn Yuanxiang, Gonca Bayraktar, Carolin Rodenstein, Carolin Geiseler, Angela Kolodziej, Jeffrey Lopez-Rojas, Dirk Montag, Frank Angenstein, Julia Bär, Wolfgang D'Hanis, Thomas Roskoden, Marina Mikhaylova, Eike Budinger, Frank W Ohl, Oliver Stork, Ana C Zenclussen, Anna Karpova, Herbert Schwegler, Michael R Kreutz
Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to Kallmann syndrome (KS), a neurodevelopmental disorder characterized by idiopathic hypogonadotropic hypogonadism (IHH) associated with anosmia or hyposmia. It has also been reported that a protein knockdown results in migration deficits of Gonadotropin-releasing hormone (GnRH) positive neurons from the olfactory bulb to the hypothalamus during early neuronal development...
March 2016: PLoS Genetics
Antonella Lettieri, Roberto Oleari, Jessica Gimmelli, Valentina ANDRé, Anna Cariboni
In mammals fertility depends on timely onset and cyclic secretion of gonadotropin-releasing hormone (GnRH), secreted by scattered hypothalamic neurons (GnRH neurons). These cells originate in the nasal placode and migrate first in the nasal compartment, then through the cribriform plate and finally across the basal forebrain, before they set in their final position in the hypothalamus. This long journey is regulated by many different factors that could be mutated in neuroendocrine syndromes such as congenital hypogonadotropic hypogonadism (CHH), Kallmann Syndrome (KS) and CHARGE syndrome...
June 2016: Minerva Endocrinologica
Valeria Vezzoli, Paolo Duminuco, Ivan Bassi, Fabiana Guizzardi, Luca Persani, Marco Bonomi
Congenital hypogonadotropic hypogonadism (CHH) is a rare disease characterized by delayed/absent puberty and infertility due to an inadequate secretion or action of gonadotrophin-releasing hormone (GnRH), with an otherwise structurally and functionally normal hypothalamic-pituitary-gonadal (HPG) axis. CHH is genetically heterogeneous but, due to the infertility of affected individuals, most frequently emerges in a sporadic form, though numerous familial cases have also been registered. In around 50-60% of cases, CHH is associated with a variety of non-reproductive abnormalities, most commonly anosmia/hyposmia, which defines Kallmann Syndrome (KS) by its presence...
June 2016: Minerva Endocrinologica
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"