Results 41 to 50 of about 10,846 (194)

Incontinencia Pigmenti: rara genodermatosis ligada con el cromosoma X. Reporte de un caso clínico

Medicina U.P.B., 2016
La incontinencia pigmenti (síndrome de Bloch-Sulzberger) es una genodermatosis rara causada por una mutación en el gen NEMO localizado en el cromosoma X. Las manifestaciones cutáneas son marcadoras de esta entidad y se dan de forma temprana y cronológica.
Luisa Fernanda Ríos Barco
doaj   +1 more source

An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

Clinical Case Reports, 2021
Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms.
Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka   +12 more
doaj   +1 more source

Carotenoids as accessory and protective pigments in photosynthesis [PDF]

, 2010
Fotosinteza je neophodan i izuzetno složen biokemijski proces u biljkama. Odvija se u reakcijskim centrima smještenim na tilakoidnim membranama kloroplasta. Razlikujemo dva reakcijska centra biljaka – PSII i PSI.
Kovačević, Jelena
core   +2 more sources

Scientific opinion on the exposure of children and adolescents in the Republic of Croatia to acrylamide from food

Food Risk Assess Europe, Volume 4, Issue 1, January 2026.
Summary Acrylamide is a natural by‐product of the reaction that occurs during the baking or frying food at temperatures above 120°C in industry and in households. The main mechanism of acrylamide formation in food is the Maillard reaction, in which the free amino acid asparagine, which is found in many types of cereals and potatoes, reacts with ...
Danijela Stražanac, Sanja Miloš, Martina Pavlić, Nikolina Čukelj Mustač, Tanja Bogdanović, Antun Jozinović, Dražen Knežević   +6 more
wiley   +1 more source

Incontinentia pigmenti: case report and 5-year follow-up

Acta Odontologica Turcica, 2017
Introduction: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) is a disease of organ involvement with ectodermic and mesodermic origin, showing dominant transition based on the X-chromosome. It affects the skin, eyes, teeth, and central nervous system.
Ayşegül Sarı, Salih Çelik
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Incontinencia pigmenti con defecto en la inmunidad celular

Boletín Médico del Hospital Infantil de México, 2015
Introducción: La incontinencia pigmenti es una enfermedad genética rara ligada al cromosoma X, letal en el varón, que afecta a todos los tejidos derivados del ectodermo, como piel, faneras, ojos, dientes y sistema nervioso central, y presenta ...
Antonio Zamora-Chávez, Argelia Escobar-Sánchez, Stanislaw Sadowinski-Pine, Omar Josué Saucedo-Ramírez, Palmira Delgado-Barrera, Claudia G. Enríquez-Quiñones   +5 more
doaj   +1 more source

Studio mediante spettroscopia in riflettanza non invasiva dei pigmenti utilizzati dal pittore Giovan Battista Naldini nel dipinto La natività, Chiesa di Santa Maria Novella, Firenze [PDF]

, 2009
Le misure FORS (Fig. 1), oggetto della presente relazione tecnico-scientifica, sono state effettuate il 15 dicembre 2008 presso lo Studio di Restauro Vervat sul dipinto di Giovan Battista Naldini “La Natività” del 1573 appartenente alla Chiesa di Santa ...
Boselli, Lara, Picollo, Marcello
core  

Pigmentary Mosaicism: An Overview

JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.
Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant, E. Legius, N. Cattaert, M.‐A. Morren   +3 more
wiley   +1 more source

Incontinentia Pigmenti In A Male Infant: A Case Report

Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)
Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis with an estimated incidence of 0.7–1.2 per 100,000 live births. It is caused by mutations in the IKBKG gene.
Arifiana Wungu Kartika Dewi, Anindia Indraswari, Irmadita Citrashanty, Iskandar Zulkarnain, Sawitri, Yuri Widia   +5 more
doaj   +1 more source