Results 41 to 50 of about 718 (144)

Pattern of pathological cutaneous lesions of neonates in neonatal care unit of a peripheral tertiary institution in West Bengal

Indian Journal of Paediatric Dermatology, 2020
Background: A variety of cutaneous disorders have been found in neonatal period. These disorders may be physiological or pathological, temporary or permanent, congenital or acquired. Most of the skin lesions are benign, transient and physiological.
Chinmay Kar, Syamal Kumar Sardar
doaj   +1 more source

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD‐related neurodevelopmental disorders. ABSTRACT
Ali Reza Tavasoli, Arastoo Kaki, Maedeh Ganji, Seyyed Mohammad Kahani, Foozhan Radmehr, Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Kara S. Lewis   +8 more
wiley   +1 more source

Disorders of fatty acid homeostasis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz, Sacha Ferdinandusse, Gajja S. Salomons, Ronald J. A. Wanders   +3 more
wiley   +1 more source

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

Frontiers in Pediatrics, 2019
Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body.
Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani   +11 more
doaj   +1 more source

Human genetic defects of sphingolipid synthesis

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids.
Patricia Dubot, Frédérique Sabourdy, Thierry Levade   +2 more
wiley   +1 more source

Lamellar icthyosis with bilateral cicatricial ectropion: Case report with review of the literature

Medical Journal of Dr. D.Y. Patil University, 2015
Lamellar ichthyosis (LI), is a rare genodermatoses, that appears at birth and continues throughout a person's life with an autosomal recessive mode of inheritance.
Sonia P Jain
doaj   +1 more source

The effect of group size on sleep in a neotropical bat, Artibeus jamaicensis

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 341, Issue 10, Page 1097-1110, December 2024.
Research Highlights We combine behavioral and physiological data to show that Jamaican fruit bats (Artibeus jamaicensis) sleeping in groups may sleep longer than individuals sleeping alone, and that behavior can be used to measure some sleep metrics in wild bats.
Alexis M. Heckley, Christian D. Harding, Rachel A. Page, Barrett A. Klein, Yossi Yovel, Clarice A. Diebold, Hannah B. Tilley   +6 more
wiley   +1 more source

Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)

Journal of Cutaneous Pathology, Volume 52, Issue 10, Page 597-600, October 2025.
Cathal O'Connor, Neidín Bussmann, Sarah Ni Mhaolcatha, Cynthia Heffron, Sally O'Shea   +4 more
wiley   +1 more source

Neuronopathic Gaucher disease: Rare in the West, common in the East

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 917-934, September 2024.
Abstract Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurological symptoms are understated.
Ozlem Goker‐Alpan, Margarita M. Ivanova   +1 more
wiley   +1 more source

Genetic testing and new variants in diagnosis of congenital ichthyoses

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Milja Salo, Teija Kimpimäki, Heini Huhtala, Tanja Saarela   +3 more
wiley   +1 more source