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Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Immunol Res
January 2025
Laboratory of Clinical Immunology, Infectiology, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Congenital neutropenia (CoN) is a heterogeneous group of inborn errors of immunity (IEI) characterized by recurrent infections and early onset of neutropenia (NP). This study aimed to investigate the demographic and clinical data of children with CoN and idiopathic neutropenia (IN) in Morocco. We performed a retrospective study of patients with CoN and analyzed the clinical and laboratory findings of patients with CoN and IN diagnosed between 1999 and 2018 in a clinical immunology unit of a large pediatric hospital.
View Article and Find Full Text PDFBiallelic variants in cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet
November 2023
Departamento de Genética e Biologia Evolutiva do Instituto de Biociências, Universidade de São Paulo, Sao Paulo, Brazil
Article Synopsis
- Rothmund-Thomson syndrome (RTS) is a rare genetic skin disorder characterized by poikiloderma and divided into two types based on genetic variations and symptoms.
- A study of Brazilian individuals and European siblings with RTS revealed severe short stature, widespread poikiloderma, and congenital eye problems, linked to specific gene mutations affecting DNA repair.
- The findings suggest a shared genetic background due to a founder effect and propose that the mutations may lead to distinct clinical characteristics, broadening the understanding of RTS symptoms.
A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.
Calcif Tissue Int
April 2023
Center for Endocrinology, Diabetes and Metabolism, Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Article Synopsis
- Progressive osseous heteroplasia (POH) is a rare disorder marked by abnormal bone growth in skin and muscles, leading to joint contractures and loss of function, often associated with GNAS gene mutations; however, some cases lack known genetic causes.
- A novel case involved a 15-year-old male with calcific nodules and muscle weakness starting from age 6, showing heterotopic ossification throughout his body, but no pulmonary fibrosis.
- The study presents a unique association between a new, harmful variant in the FAM111B gene and POH, highlighting the need for further research into the underlying mechanisms and potential treatment options.
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Am J Med Genet A
October 2022
Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis is a congenital multisystem disorder due to FAM111B dominant variants. We present a literature review focusing on the frequency and the impact of hepatic involvement and a case report of a patient with severe end-stage liver disease. Whole exome sequencing (WES) was conducted on the proband and his parents.
View Article and Find Full Text PDFOcular manifestations in Kindler syndrome.
Indian J Ophthalmol
July 2022
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Article Synopsis
- The study investigates the long-term eye-related complications of Kindler syndrome, focusing on cases treated at a specialized eye clinic.
- Three patients with varying issues, including severe dry eye and corneal damage, were reviewed, highlighting specific symptoms for each case.
- Treatment involved the use of topical lubricants, low-potency steroids, and immuno-modulators, emphasizing the importance of monitoring eye health alongside other symptoms to prevent lasting damage.
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