scholarly journals Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2

Oncotarget ◽  
2016 ◽  
Vol 7 (48) ◽  
pp. 78363-78371 ◽  
Author(s):  
Santasree Banerjee ◽  
Huishuang Chen ◽  
Hui Huang ◽  
Jing Wu ◽  
Zhiyun Yang ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Recessive ◽  
Novel Mutations

The RETRIEVE Study: A natural history study of type 2 Gaucher disease, and GM1 and GM2 gangliosidoses with early onset, in preparation of a clinical trial

2021 ◽  
Vol 132 (2) ◽  
pp. S48-S49
Author(s):  
Benedicte Heron-Longe ◽  
Spyros Batzios ◽  
Eugen Mengel ◽  
Roberto Giugliani ◽  
Marc Patterson ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Natural History ◽  
Early Onset ◽  
Gaucher Disease ◽  
Natural History Study ◽  
Gm2 Gangliosidoses

scholarly journals Risk of Depression among Early Onset Type 2 Diabetes Mellitus Patients

2021 ◽  
pp. 1-11
Author(s):  
Baizid Khoorshid Riaz ◽  
Shahjada Selim ◽  
Megan Neo ◽  
Md Nazmul Karim ◽  
M. Mostafa Zaman
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Early Onset ◽  
Tertiary Care ◽  
Positive Family History ◽  
Depression Symptoms ◽  
Mixed Effect ◽  
Increased Risk

<b><i>Methodology:</i></b> Biochemically confirmed type 2 diabetes mellitus (T2DM) patients (<i>n</i> = 1,114) were recruited from the outpatient department of 2 tertiary care hospitals in Dhaka, Bangladesh. Face-to-face interview was conducted using a semi-structured questionnaire containing sociodemographic parameters and relevant information about depression and diabetes. Biochemical test results and treatment-related information were taken from patients’ records. The Hospital Anxiety and Depression Scale (HADS) was used to screen all patients for psychiatric manifestation. Those diagnosed by HADS were subsequently reassessed using structured clinical interview for DSM-5 Disorders – Clinician Version. T2DM diagnosed at age &#x3c;40 years were considered as early onset T2DM. Association between age of onset category and depression was assessed using multivariable mixed-effect logistic regression adjusting for random variation of the area of residence and plausible confounders. <b><i>Results:</i></b> Around a third of the participants (32.5%) were diagnosed with T2DM before the age of 40 years. Early onset T2DM patients were found to have 57% increase in the risk of developing depression (OR 1.57; 95% CI 1.13–2.28; <i>p</i> = 0.011) in comparison to those with usual onset T2DM (≥40 years). Among other factors a positive family history for diabetes (OR 1.33; 95% CI 1.03–1.78; <i>p</i> = 0.038), poor glycemic control (OR 1.31; 95% CI 1.03–1.68; <i>p</i> = 0.028), presence of 1, or more diabetic complications (OR 1.37; 95% CI 1.03–1.78; <i>p</i> = 0.011) also showed increased risk of depression. <b><i>Conclusion:</i></b> Early onset T2DM patients are at greater risk of developing depression. The finding is likely to help in setting preventive strategies aiming to reduce the presence of concomitant depression symptoms among diabetes.

Vitamin D concentrations from neonatal dried blood spots and the risk of early-onset type 2 diabetes in the Danish D-tect case-cohort study

Diabetologia ◽  
2021 ◽  
Author(s):  
Amélie Keller ◽  
Fanney Thorsteinsdottir ◽  
Maria Stougaard ◽  
Isabel Cardoso ◽  
Peder Frederiksen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Vitamin D ◽  
Cohort Study ◽  
Early Onset ◽  
Dried Blood Spots ◽  
Onset Type ◽  
Blood Spots

scholarly journals Association of Cardiometabolic Multimorbidity and Depression With Cardiovascular Events in Early-Onset Adult Type 2 Diabetes: A Multiethnic Study in the U.S.

Diabetes Care ◽  
2020 ◽  
Vol 44 (1) ◽  
pp. 231-239
Author(s):  
John Epoh Dibato ◽  
Olga Montvida ◽  
Francesco Zaccardi ◽  
Jack Alistair Sargeant ◽  
Melanie J. Davies ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Cardiovascular Events ◽  
Adult Type ◽  
The U.S

scholarly journals Missense mutations in theTGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes

2007 ◽  
Vol 28 (11) ◽  
pp. 1150-1150 ◽  
Author(s):  
O. Porzio ◽  
O. Massa ◽  
V. Cunsolo ◽  
C. Colombo ◽  
M. Malaponti ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Early Onset ◽  
Transglutaminase 2 ◽  
Missense Mutations ◽  
Gene Encoding ◽  
Onset Type

Two novel mutations of the SETX gene and ataxia with oculomotor apraxia type 2

2015 ◽  
Vol 128 ◽  
pp. 44-46
Author(s):  
Joanna Pera ◽  
Sarah Lechner ◽  
Saskia Biskup ◽  
Magdalena Strach ◽  
Tomasz Grodzicki ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Oculomotor Apraxia ◽  
Ataxia With Oculomotor Apraxia

scholarly journals Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy

2017 ◽  
Vol 18 (1) ◽  
pp. 52-56
Author(s):  
Tahira N Choudry ◽  
David Hilton-Jones ◽  
Graham Lennox ◽  
Henry Houlden
Keyword(s):  
Autosomal Recessive ◽  
Age Of Onset ◽  
Axonal Neuropathy ◽  
Elevated Serum ◽  
Cerebellar Atrophy ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia ◽  
Oculomotor Apraxia ◽  
Ataxia With Oculomotor Apraxia

A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich’s ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years.The diagnosis of oculomotor apraxia type 2 is often challenging. We provide a framework for assessing a young ataxic patient with or without oculomotor apraxia and review clues that will aid diagnosis. The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. Patients and their families need the correct diagnosis for genetic counselling, management and long-term surveillance with appropriate subspecialty services.

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