Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It often progresses over a few decades to chronic renal insufficiency, and therefore molecular characterization is important to allow appropriate genetic counseling. Two genetic subtypes have been described to date: Dent disease 1 is caused by mutations of the CLCN5 gene, coding for the chloride/proton exchanger ClC-5; and Dent disease 2 by mutations of the OCRL gene, coding for the inositol polyphosphate 5-phosphatase OCRL-1. Herein, we review previously reported mutations (n = 192) and their associated phenotype in 377 male patients with Dent disease 1 and describe phenotype and novel (n = 42) and recurrent mutations (n = 24) in a large cohort of 117 Dent disease 1 patients belonging to 90 families. The novel missense and in-frame mutations described were mapped onto a three-dimensional homology model of the ClC-5 protein. This analysis suggests that these mutations affect the dimerization process, helix stability, or transport. The phenotype of our cohort patients supports and extends the phenotype that has been reported in smaller studies.

The identification of child abuse in Harris County in 1998

Characteristics of child abuse cases are not well known. In this study I collected data on 70 child abuse cases that were reported to Children's Protective Services in Harris County in 1998. The purpose of this study was to determine the factors in Harris County that lead to the identification of physical and sexual abuse. In order to answer the questions of who, what, where and when relative to the discovery of abuse I applied the same questionnaire (see Appendix) to each of 35 Sexual Abuse case reports and to each of 35 Physical Abuse/Neglect case reports. Answers to the first four questions were arranged by frequency distribution to show the predominant reporter, the 10 most common indicators, the most common locale, and the most frequent timing. Tables of the age, sex, and ethnicity of the children indicate the identity of those whose victimization was most reported. In addition the relationship between the form questions and the characteristics of the children was explored. A comparison of Sexual Abuse cases with Physical Abuse/Neglect cases was conducted and the results were analyzed and recorded in the Tables. ^ Child maltreatment often has negative short and long term effects on children's mental health and development. Suicide, violence, delinquency, drug and alcohol abuse and other forms of criminality are frequently child abuse related. Early detection and treatment helps to alleviate the myriad mental and physical ailments that untreated victims present as adults. This translates into medical dollar savings. ^ The long term objectives of my research were to reduce the number of undetected and unreported child abuse cases in Harris County by formulating better educational programs and literature for medical professionals and other personnel who are in contact with children. ^

Na 1 Nachlass Max Horkheimer, 645 - "Geschichte und Psychologie", "Preface" und "Vorurteil und Charakter" (p. IX 25a-IX 27.1-4)

"Geschichte und Psychologie" (GS 3, S. 48-69); Photokopie des Drucks aus der Zeitschrift für Sozialforschung, Jahrgang I, 1932; mit handschriftlichen Korrekturen von Gretel Adorno für den Nachdruck (1968), 11 Blatt; "Preface" to Berkeley Adult Study (GS 5, S. 415-420); Veröffentlicht in: Adorno, Theodor W.; Frenkel-Brunswik, Else; Levinson, Daniel J.; Sanford, R. Nevitt: "The Authoritian Personality", New York, 1950, Seote IX- XII. Typoskript, datiert: April 1948, 8 Blatt (siehe auch IX 140, IX 153.3); "Vorurteil und Charakter" (GS 8, Seite 64-76); 1. Aufsatz von Max Horkheimer und Theodor W. Adorno, veröffentlicht in: Frankfurter Hefte; April 1952, Seite 284-291. a) Teilstück, Typsokript, 2 Blatt b) Typoskript mit eigenhändigen und handschriftlichen Korrekturen, 14 Blatt c) Typoskript mit dem Titel: "Vorurteil: Wissenschaftlich untersucht. Der freie und der totalitäre Mensch"; mit handschriftlichen Korrekturen, 5 Blatt d) Typsokript mit demselben Titel, mit eigenhändigen Korrekturen von Max Horkheimer und Theosodr W. Adorno, 6 Blatt; 2. Englische Fassung mit dem Titel: "Prejudice and Personality". a) Typoskript, 14 Blatt b) Typoskript, 14 Blatt; 3. Horkheimer, Max: "Prejudice and Personality. A Paper prepared for the XII th Congress of the International Association of Allied Psychology as a Contribution to the Symposion on: 'The Psychologist ams Scienty'". London, July 19, 1955; 2. überarbeitete Fassung, Typoskript, 7 Blatt; 4. "Vorurteil"; größtenteils identisch mit 1. Typsokript, 10 Blatt (siehe auch IX 28.8);

Na 1 Nachlass Max Horkheimer, 673 - Forschungsprojekte über Antisemitismus, Vorurteil, Autorität: Einzeluntersuchungen (p. IX 139 - IX 140.1-14)

Assignements. Anweisungen zu Einzeluntersuchungen des Antisemitismus-Projekts, 1943 und ohne Datum, 15 Blatt; Zum 'Berkeley Projekt on Antisemitism', 1944-1946; Sitzungsprotokolle und Memoranden der 'Los Angeles Branch of the Berkeley Research Project on Social Discrimination', 19.03.1946 - 11.04.1946, Typoskript, 11 Blatt; Frenkel-Brunswik, Else: 1 Brief mit Unterschrift an Max Horkheimer, ohne Ort, 10.01.1944, 6 Blatt; Interview- und Testprotokolle, Typoskript, 33 Blatt; Horkheimer, Max: 1 Brief an Theodor W. Adorno, ohne Ort, 11.10.1945, 5 Blatt; "Traits of the Authoritatian Character", a) Typoskript, 2 Blatt; b) Typoskript, 2 Blatt; c) Typoskript mit eigenhändigen Korrekturen und Ergänzungen, von Max Horkheimer, 2 Blatt; "Hypothese concerning indirect questions of Berkeley Questionaire". Als Typoskript vervielfältigt, 4 Blatt; Frenkel-Brunswik, Else; Sanford, R. Nevitt: "Some Personality Factors in Anti-Semitism", Sonderdruck aus: The Journal of Psychology, 1945, 20, S. 271-291; Levison, Daniel J.; Sanford, R. Nevitt: "A Scale for the Measurement of Anti-Semitism", Sonderdrucke aus: The Journal of Psychology, 1944,17, S.339-370; "'Unconscious' Facism", Excerpt aus: Propaganda Analysis, No. 7, L938, Typoskript 1 Blatt; Löwenthal, Leo: 1 Brief mit Unterschrift an Max Horkheimer, New York, 31.05.1945; Deutsch, Monroe E.: 2 Briefe mit Unterschrift an Max Horkheimer, Berkeley, 1945; 4 Briefe und Beantwortung von Max Horkheimer, Pacific Palisades, 1945; Lundberg, O.: 5 Briefe von Max Horkheimer, Pacific Palisades, 1945-1946; Sanfort, Nevitt: 1 Brief von Samuel H. Flowerman, ohne Ort, 14.06.1947; Statement for Berkeley Public Opinio Study Group Accounts, 19 Blatt;

Na 1 Nachlass Max Horkheimer, 546 - Korrespondenzen mit Leo Löwenthal (p. VI 18, 215-414)

135 Briefe zwischen Leo Löwenthal und Max Horkheimer; 2 Briefe von Max Horkheimer an S. Flowerman, 1945/1946; 2 Briefe zwischen John Slawson und Max Horkheimer, Februar 1946; 1 Brief von R. Nevitt Sanford an John Slawson, 31.01.1946; 1 Brief von Paul Lazarsfeld an Norbert K. Merton, 04.02.1946; 1 Brief von Paul Lazarsfeld an Theodore Abel, 05.02.1946; 2 Briefe zwischen Max Horkheimer und Dessie E. Kushell, Januar 1946; 3 Briefe von Max Horkheimer an Margaret Nicolson, Januar 1946;

Na 1 Nachlass Max Horkheimer, 557 - Korrespondenzen mit Leo Löwenthal (p. VI 24, 1-230)

139 Briefe zwischen Max Horkheimer und Leo Löwenthal; 5 Briefe zwischen Charles Y. Glock und Max Horkheimer; 2 Briefe von Leo Löwenthal an Frederick Pollock, 1951/1952; 1 Brief von Max Horkheimer an Robert S. Lynd, 08.11.1951; 1 Brief von Max Horkheimer an Nevitt R. Sanford, 21.04.1951; 1 Brief von Max Horkheimer an Herbert Marcuse, 05.03.1951; 1 Brief von Harry J. Krould an Max Horkheimer, 19.02.1951; 1 Brief von Max Horkheimer an Paul Lazarsfeld, 09.02.1951; 1 Brief von Max Horkheimer an Manfred George, 12.08.1952; 1 Brief von Max Horkheimer an Paul Massing, 27.07.1952;

Na 1 Nachlass Max Horkheimer, 581 - Korrespondenzen mit Friedrich (Frederick) Pollock und Henryk Grossmann (p. VI 34, 199-464)

1 Brief von Edith Kriss an Margot von Mendelssohn, 13.10.1943; 1 Brief von Margot von Mendelssohn an Max Horkheimer, 23.01.1944; 1 Brief von Max Horkheimer an Henryk Grossman, 10.04.1944; 1 Brief von Nevitt Sanford an Max Horkheimer, 21.01.1944; 2 Briefe zwischen Richard C. Rothschild und Frederick Pollock, 1944; 1 Brief von Frederick Pollock an das Registrar for Voting in New York Country, [1944]; 1 Brief von Theodor W. Adorno an Frederick Pollock, 07.06.1944;

Pressure, tilt, temperature and conductivity monitoring within the Immerged Santorini Caldera during Jul 2012 - Sep 2013

Bottom pressure, tilt and seawater physical-properties were monitored for a year using two instruments within the immerged Santorini caldera (Greece). Piggy-backed on the CALDERA2012 cruise, this geodetic experiment was designed to monitor evolution of the 2011-2012 Santorini unrest. Conducted during a quiescent period, it allowed us to study oceanographic and atmospheric signal in our data series. We observe periodic oceanographic signals associated with tides, and seiches that are likely linked to both the caldera and Cretan basin geometries. In winter, the caldera witnesses sudden cooling events that tilt an instrument towards the Southeast, indicating cold-water influx likely originating from the north-western passage between Thirasia and Oia. We do not obtain evidence of long-term vertical seafloor deformation from the pressure signal, although it may be masked by instrumental drift. However, tilt data suggests a local seafloor tilt event ~1 year after the end of the unrest period which could be consistent with inflation under or near Nea Kameni. Seafloor geodetic data recorded at the bottom of the Santorini caldera illustrates that the oceanographic signature is an important part of the signal, which needs to be considered for monitoring volcanic or geological seafloor deformation in shallow-water and/or nearshore areas.

Optical signal processing with electrooptic modulators and dispersion

A review of the main techniques that have been proposed for temporal processing of optical pulses that are the counterpart of the well-known spatial arrangements will be presented. They are translated to the temporal domain via the space-time duality and implemented with electrooptical phase and amplitude modulators and dispersive devices. We will introduce new variations of the conventional approaches and we will focus on their application to optical communications systems