Results 161 to 170 of about 1,912 (196)

Alstrom syndrome – a diagnosis revisited

British Journal of Diabetes and Vascular Disease, 2013
Carl Henry Alstrom first described the syndrome in 1959.1 It is a rare autosomal recessive, single gene, multi system disorder characterised by early onset retinal (progressive cone rod) dystrophy with profound visual loss, childhood obesity with insulin resistance, hyperinsulinaemia and diabetes, sensorineural hearing loss, dilated cardiomyopathy as ...
Rajesh Peter, Alan Rees
exaly   +2 more sources

Alstrom syndrome—a diagnostic dilemma

International Journal of Diabetes in Developing Countries, 2016
Alstrom syndrome is a rare autosomal recessive genetic disorder first described in 1959. The syndrome with an estimated prevalence of less than 1 in 1 million has about 700 cases reported worldwide and only about 20 cases have been reported from India.
Rukmini M S, Madan Gopal Rajan, Puneeth A, Soundarya M   +3 more
exaly   +2 more sources

Presentation and course of diabetes in children and adolescents with Alstrom syndrome

Pediatric Diabetes, 2011
Alstrom syndrome is characterized by childhood obesity, progressive retinal degeneration, and sensorineural hearing loss with diabetes mellitus (DM) developing later in childhood and adulthood. The course of diabetes in children with this condition has not been described.
Elizabeth Cummings
exaly   +3 more sources

Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child

Ophthalmic Genetics, 2019
We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a novel splice-site mutation 10 years after a clinical misdiagnosis of Leber congenital amaurosis.Ophthalmological evaluations included visual acuity, cycloplegic refraction, slit-lamp, and optical coherent ...
Shirel Weiss, Lior Cohen, Tamar Ben-Yosef   +2 more
exaly   +3 more sources

Alström's Syndrome: Neurological Manifestations and Genetics [PDF]

Journal of Pediatric Neurology, 2022
AbstractAlström syndrome (ALMS) is a rare ciliopathy with pleiotropic and wide spectrum of clinical features. It is autosomal recessively inherited and associated with mutations in ALMS1, a gene involved in cilia functioning. High clinical heterogeneity is the main feature of ALMS.
Spoto, Giulia, Pironti, Erica, Amore, Greta, Prato, Adriana, Scuderi, Anna, Colucci, Pia V., Ceravolo, Ida, Farello, Giovanni, Salpietro, Vincenzo, Iapadre, Giulia, Di Rosa, Gabriella, Dicanio, Daniela   +11 more
openaire   +2 more sources

A review on Alstrom Syndrome

International Journal of Science and Research Archive, 2023
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction.
null RENATT C FRANCIS, null MATEW GEORGE, null LINCY JOSEPH, null SARANYA SASI, null SRUTHI KRISHNA P K   +4 more
openaire   +1 more source

Alstrom's Syndrome: An Experience of Tertiary Care Center

Journal of Pediatric Genetics, 2021
AbstractAlstrom's syndrome (AS) is an autosomal recessively inherited multisystemic disorder that falls under the umbrella of ciliopathy. It is characterized by poor vision, hearing impairment, cardiomyopathy, childhood obesity, diabetes mellitus type 2, dyslipidemia, pulmonary, hepatic, and renal failure besides systemic fibrosis. Biallelic pathogenic
Ghadah, Gosadi, Maryam, Busehail, Zuhair, Rahbeeni   +2 more
openaire   +2 more sources

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease [PDF]

Orphanet Journal of Rare Diseases, 2015
Background: Patients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national
Timothy G Barrett, Tarekegn Geberhiwot, Geberhiwot Tarekegn   +2 more
exaly   +3 more sources

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome [PDF]

Journal of Molecular Medicine, 2021
Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated ...
Lee-Kai Wang, Ascia Eskin, Xuedong Kang   +2 more
exaly   +3 more sources

Letter to the editor: Defining the cardiovascular phenotype of adults with Alstrom Syndrome

International Journal of Cardiology
Bazil Azeem
exaly   +3 more sources