Results 11 to 20 of about 143,066 (307)

Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder

The Indian Anaesthetists' Forum, 2015
Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
doaj   +1 more source

The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder

Open Medicine, 2009
Neurofibromatosis type I (NF1) is a hereditary multisystem disease involving the skin and nervous system. It is the most common form of autosomal dominant phakomatoses with 100% penetrance but wide phenotypic variability.
Scalzone Maria, Coccia Paola, Ruggiero Antonio, Lazzareschi Ilaria, Mastrangelo Stefano, Riccardi Riccardo   +5 more
doaj   +2 more sources

Genitourinary complications as initial presentation of inherited epidermolysis bullosa

African Journal of Paediatric Surgery, 2011
Epidermolysis bullosa (EB) is a rare disorder that presents with urological complications. We present a 6-year-old boy admitted with urological symptoms that revealed an inherited EB misdiagnosed.
Arifi M, Arifi S, Demni K, Bouhafs M, Belkacem R, Barahioui M   +5 more
doaj   +2 more sources

Oral Manifestations and Molecular Basis of Oral Genodermatoses: A Review [PDF]

Journal of Clinical and Diagnostic Research, 2016
Genodermatoses refers to group of inherited monogenic disorders with skin manifestations. Many of these disorders are rare and also have oral manifestations, called oral genodermatoses.
Kiran Kumar, A.S. Shilpasree, Meenakshi Chaudhary   +2 more
doaj   +1 more source

Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients [PDF]

, 2021
RM; Trastornos hereditarios de neurotransmisores; Monoaminas; Deficiencia de tetrahidrobiopterinaRM; Trastorns dels neurotransmissors heretats; Monoamines; Deficiència de tetrahidrobiopterinaMRI; Inherited neurotransmitter disorders; Monoamines ...
Cortès-Saladelafont, Elisenda, Manti, Filippo, Mohr, Alexander, Gomez-Alemany, Teresa, Friedman, Jennifer, Horvath, Gabriella, Kuseyri Hübschmann, Oya, Alcoverro-Fortuny, Òscar   +7 more
core   +1 more source

Rapid airway stenosis due to ruptured occipital artery in a patient with neurofibromatosis type I

Acute Medicine & Surgery, 2023
Background Neurofibromatosis type I is rarely associated with vascular abnormalities. Here, we report a case of rapid airway stenosis caused by a ruptured occipital artery that was treated with surgical airway management.
Hirotaka Ando, Takeshi Goto, Keisuke Ito, Dai Ikebe, Shogo Tanno, Shohei Matsukubo, Hirohumi Koide, Toshikazu Abe   +7 more
doaj   +1 more source

Assessment of respiratory involvement in children with mucoplysaccharidosis using pulmonary function tests

Egyptian Journal of Medical Human Genetics, 2014
Background: Mucopolysaccharidosis (MPS) are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of glycosaminoglycan (GAG) metabolism.
Mona M. El Falaki, Marian Y. Girgis, Aliaa A. Ali, Mohamed A. Elmonem, Heba M. Ismail   +4 more
doaj   +1 more source

Curcumin–Copper Complex Nanoparticles for the Management of Triple-Negative Breast Cancer

Nanomaterials, 2018
Breast cancer is the most common cancer diagnosed among females worldwide. Although breast cancer survival has largely improved in the past 30 years, it remains highly heterogeneous in its response to treatment.
Khaled Greish, Valeria Pittalà, Sebastien Taurin, Safa Taha, Fatemah Bahman, Aanchal Mathur, Anfal Jasim, Fatima Mohammed, Ibrahim M. El-Deeb, Salim Fredericks, Fiza Rashid-Doubell   +10 more
doaj   +1 more source

A Rare Case of Epidermodysplasia Verruciformis with Non Syndromic Hearing Loss [PDF]

Journal of Clinical and Diagnostic Research
The onset of Non Syndromic Hearing Loss (NSHL) typically occurs without any other symptoms and can vary from person to person, even within the same family. Hearing loss can be unilateral or bilateral and can range from mild to profound degrees of hearing
Soham Meghe, AL Singh, Yash Kashikar, Sudhir Singh   +3 more
doaj   +1 more source

Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families

, 2023
Schizophrenia and affective disorder are two major complex mental disorders with high heritability. Evidence shows that rare variants with significant clinical impacts contribute to the genetic liability of these two disorders.
Yu-Shu Huang, Ting-Hsuan Fang, Chia-Hsiang Chen, I-Hang Chung   +3 more
core   +1 more source