scholarly journals Association between Inflammatory Conditions and Alzheimer’s Disease Age of Onset in Down Syndrome

2021 ◽  
Vol 10 (14) ◽  
pp. 3116
Author(s):  
Florence Lai ◽  
Nathaniel Mercaldo ◽  
Cassandra M. Wang ◽  
Giovi G. Hersch ◽  
Herminia Diana Rosas
Keyword(s):  
Down Syndrome ◽  
Age Of Onset ◽  
Vitamin B12 Deficiency ◽  
Inflammatory Conditions ◽  
Increased Risk ◽  
Wide Range ◽  
High Prevalence ◽  
Autoimmune Conditions ◽  
B12 Deficiency ◽  
The Relationship

Adults with Down syndrome (DS) have an exceptionally high prevalence of Alzheimer disease (AD), with an earlier age of onset compared with the neurotypical population. In addition to beta amyloid, immunological processes involved in neuroinflammation and in peripheral inflammatory/autoimmune conditions are thought to play important roles in the pathophysiology of AD. Individuals with DS also have a high prevalence of autoimmune/inflammatory conditions which may contribute to an increased risk of early AD onset, but this has not been studied. Given the wide range in the age of AD onset in those with DS, we sought to evaluate the relationship between the presence of inflammatory conditions and the age of AD onset. We performed a retrospective study on 339 adults with DS, 125 who were cognitively stable (CS) and 214 with a diagnosis of AD. Data were available for six autoimmune conditions (alopecia, celiac disease, hypothyroidism, psoriasis, diabetes and vitamin B12 deficiency) and for one inflammatory condition, gout. Gout was associated with a significant delay in the age of AD onset by more than 2.5 years. Our data suggests that inflammatory conditions may play a role in the age of AD onset in DS. Further studies are warranted.

The relationship between the cobalt nutrition of ewes and the vitamin B12 status of ewes and their lambs

1987 ◽  
Vol 38 (6) ◽  
pp. 1071 ◽  
Author(s):  
MF Quirk ◽  
BW Norton
Keyword(s):  
Vitamin B12 ◽  
Milk Production ◽  
Acid Concentration ◽  
Methylmalonic Acid ◽  
Vitamin B12 Deficiency ◽  
Lactation Performance ◽  
Lower Productivity ◽  
Cotton South ◽  
B12 Deficiency ◽  
The Relationship

An experiment was undertaken at Mt Cotton, south-east Queensland, to investigate the relationship between the cobalt nutrition of ewes and the occurrence of vitamin B12 deficiency in ewes and their lambs. Ewes received either no supplementary cobalt (C), 0.03 mg cobalt day-1 (LC), 0.06 mg cobalt day-1 (HC) or a cobalt bullet and grinder (CB). LC and HC ewes received their supplement as a weekly drench. Supplementation commenced prior to joining, and ewes subsequently grazed pangola grass pastures containing between 0.05 and 0.11 mg kg-1 cobalt.Cobalt supplementation of ewes increased their liveweight, reproductive and lactation performance. The milk production of ewes was influenced by the level of supplementation, with C, LC, HC and CB ewes producing 31.1, 41.5, 47.7 and 50.31. of milk respectively during the first 4 weeks of lactation. The lower productivity of C ewes was associated with concentrations of vitamin B12 in serum of less than 200 pg ml-1 and with the presence of detectable concentrations of methylmalonic acid (>80 8moles l-1) and formiminoglutamic acid (>30 8moles l-1) in their urine.The growth of lambs was influenced by the cobalt nutrition of their dams; the mean liveweight gain from birth to weaning (14 weeks of age) for lambs from C, LC, HC and CB ewes was 95, 158, 194 and 231 g day-1. Vitamin B12 deficiency was evident in lambs reared by C ewes from 4 weeks of age, but lambs from LC and HC ewes did not become deficient until 8 and 12 weeks of age respectively. Lambs from CB ewes remained free of signs of deficiency prior to weaning. Urinary formiminoglutamic acid concentration was a more reliable indicator of vitamin B12 status in young lambs than urinary methylmalonic acid concentration. The concentrations of vitamin B12 in the serum of lambs were low in all groups (< 150 pg ml-1) and were generally unaffected by the cobalt nutrition of their dams.A dietary cobalt intake of about 0.15 mg day-1 appeared to be necessary for optimal milk production from ewes. However, this level of dietary cobalt was inadequate for provision of sufficient quantities of maternal vitamin B12 to meet the requirements of lambs in the later stages of lactation.

scholarly journals Improved testing for vitamin B12 deficiency: correcting MMA for eGFR reduces the number of patients classified as vitamin B12 deficient

2018 ◽  
Vol 55 (6) ◽  
pp. 685-692 ◽  
Author(s):  
Saskia LM van Loon ◽  
Anna M Wilbik ◽  
Uzay Kaymak ◽  
Edwin R van den Heuvel ◽  
Volkher Scharnhorst ◽  
...  
Keyword(s):  
Data Mining ◽  
Vitamin B12 ◽  
Methylmalonic Acid ◽  
Vitamin B12 Deficiency ◽  
The Elderly ◽  
Vitamin B ◽  
Data Mining Approach ◽  
Number Of Patients ◽  
B12 Deficiency ◽  
The Relationship

Background Methylmalonic acid (MMA) can detect functional vitamin B12 deficiencies as it accumulates early when intracellular deficits arise. However, impaired clearance of MMA from blood due to decreased glomerular filtration rate (eGFR) also results in elevated plasma MMA concentrations. Alternative to clinical trials, a data mining approach was chosen to quantify and compensate for the effect of decreased eGFR on MMA concentration. Methods Comprehensive data on patient’s vitamin B12, eGFR and MMA concentrations were collected ( n = 2906). The relationship between vitamin B12, renal function (eGFR) and MMA was modelled using weighted multiple linear regression. The obtained model was used to estimate the influence of decreased eGFR on MMA. Clinical impact was examined by comparing the number of patients labelled vitamin B12 deficient with and without adjustment in MMA. Results Adjusting measured MMA concentrations for eGFR in the group of patients with low-normal vitamin B12 concentrations (90–300 pmol/L) showed that the use of unadjusted MMA concentrations overestimates vitamin B12 deficiency by 40%. Conclusions Through a data mining approach, the influence of eGFR on the relation between MMA and vitamin B12 can be quantified and used to correct the measured MMA concentration for decreased eGFR. Especially in the elderly, eGFR-based correction of MMA may prevent over-diagnosis of vitamin B12 deficiency and corresponding treatment.

What are the First Signs and Symptoms of Dementia?

2017 ◽  
Author(s):  
Paul B. Rosenberg
Keyword(s):  
Cognitive Impairment ◽  
Vitamin B12 Deficiency ◽  
Signs And Symptoms ◽  
Amyloid Pet ◽  
Daily Lives ◽  
Increased Risk ◽  
Neurological Exam ◽  
Prodromal Alzheimer’S Disease ◽  
B12 Deficiency ◽  
Near Term

Mild cognitive impairment (MCI) is a syndrome where persons have mild cognitive complaints and deficits on exam but are still functioning well in their daily lives. Persons with MCI are at markedly increased risk of developing dementia in the near-term and thus are an important target for preventive interventions. In the office it is crucial to take a careful history and to have an informant (usually a family member). Prodromal Alzheimer’s disease is typified by problems in short-term recall likely due to hippocampal dysfunction, and depression and anxiety are relatively common. Brief cognitive tests such as the Mini-Mental State Exam (MMSE) or Montreal Cognitive Assessment (MoCA) are useful. A thorough physical/neurological exam and laboratory screening are important for ruling out other neurologic illnesses such as Parkinsons’ or stroke and for screening for treatable causes of cognitive impairment such as hypothyroidism or vitamin B12 deficiency. Biomarkers are gradually becoming more useful for diagnosis including MRI and amyloid PET scan.

scholarly journals Parkinson’s Disease and Homocysteine: A Community-Based Study in a Folate and Vitamin B12 Deficient Population

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Zhang Wei ◽  
Wang Tiandong ◽  
Li Yang ◽  
Meng Huaxing ◽  
Min Guowen ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Vitamin B12 ◽  
Vitamin B12 Deficiency ◽  
Community Based ◽  
Current Smoking ◽  
Blood Samples ◽  
B12 Deficiency ◽  
Folate And Vitamin B12 ◽  
The Relationship

Background. Homocysteine (Hcy) levels were higher in patients with Parkinson’s disease (PD). This could be partially explained by levodopa treatment. Whether untreated PD patients have higher Hcy levels is contradictory.Methods.A community-based study was conducted using a two-stage approach for subjects ≥ 55 years to find PD patients in 3 towns of Lüliang City. Blood samples were collected. Serum Hcy, folate, and vitamin B12 concentrations were measured. For each untreated PD patient, 5 controls were selected matched with age and sex to evaluate the relationship between Hcy levels and PD.Results. Of 6338 eligible residents, 72.7% participated in the study. 31 PD cases were identified. The crude prevalence of PD for people ≥ 55 years was 0.67%. Blood samples were collected from 1845 subjects, including 17 untreated PD patients. There was no difference for concentrations of serum Hcy, folate, and vitamin B12 between cases and controls (P>0.05). In univariate and multivariate analysis, there was significant inverse relation between PD and current smoking (P<0.05). No other factor was significant statistically.Conclusions. The prevalence of PD was comparable to earlier studies in China. Hyperhomocysteinemia was not a risk factor of PD, as well as folate and vitamin B12 deficiency.

AGE OF ONSET AND NATIVELIKE L2 ULTIMATE ATTAINMENT OF MORPHOSYNTACTIC AND PHONETIC INTUITION

2012 ◽  
Vol 34 (2) ◽  
pp. 187-214 ◽  
Author(s):  
Niclas Abrahamsson
Keyword(s):  
Second Language ◽  
Adult Learners ◽  
Negative Correlation ◽  
Critical Period ◽  
Age Of Onset ◽  
L2 Proficiency ◽  
Critical Period Hypothesis ◽  
Wide Range ◽  
Ultimate Attainment ◽  
The Relationship

Research has consistently shown there is a negative correlation between age of onset (AO) of acquisition and ultimate attainment (UA) of either pronunciation or grammar in a second language (L2). A few studies have indeed reported nativelike behavior in some postpuberty learners with respect to either phonetics/phonology or morphosyntax, a result that has sometimes been taken as evidence against the critical period hypothesis (CPH). However, in the few studies that have employed a wide range of linguistic tests and tasks, adult learners have not exhibited nativelike L2 proficiency across the board of measures, which, according to some, suggests that the hypothesis still holds. The present study investigated the relationship between AO and UA and the incidence of nativelikeness when measures of phonetic and grammatical intuition are combined. An additional aim was to investigate whether children and adults develop the L2 through fundamentally different brain mechanisms—namely, whether children acquire the language (more) implicitly as an interdependent whole, whereas adults learn it (more) explicitly as independent parts of a whole.

scholarly journals Vitamin D supplementation –Is it the time to stop wasting money on vitamin D?

JMS SKIMS ◽  
2019 ◽  
Vol 22 (1) ◽  
Author(s):  
Shariq R Masoodi
Keyword(s):  
Vitamin D ◽  
Bone Health ◽  
Respiratory Infections ◽  
Vitamin D Supplementation ◽  
Increased Risk ◽  
Wide Range ◽  
Upper Respiratory ◽  
The Relationship

In recent years, vitamin D has received increased attention, as a number of studies have shown its link to the pathogenesis of various diseases. Apart from its benefits on bone health, vitamin D supplementation has been shown beneficial in reducing risk for many chronic diseases including autoimmune diseases, type 2 diabetes, heart disease, many cancers and infectious diseases. Vitamin deficiency has been associated with increased risk of elevated blood pressure, heart attack and stroke in studies. The relationship between vitamin D deficiency and the increased incidence of upper respiratory infections, asthma and eczema, among children, has been observed in several studies. Recent meta-analyzes showed a relationship between vitamin D administration during the early months of life and a lower incidence of type 1 diabetes later in life. Therefore, it is not surprising that Vitamin D supplementation is used to prevent and treat a wide range of diseases, and the use has increased considerably in the last decade.

scholarly journals Methylmalonic acid, vitamin B12, renal function, and risk of all-cause mortality in the general population: results from the prospective Lifelines-MINUTHE study

BMC Medicine ◽  
2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Ineke J. Riphagen ◽  
Isidor Minović ◽  
Dion Groothof ◽  
Adrian Post ◽  
Manfred L. Eggersdorfer ◽  
...  
Keyword(s):  
Renal Function ◽  
Vitamin B12 ◽  
Methylmalonic Acid ◽  
Vitamin B12 Deficiency ◽  
Endogenous Production ◽  
Increased Risk ◽  
B12 Deficiency ◽  
Study Population ◽  
Age And Sex

Abstract Background Methylmalonic acid (MMA) is best known for its use as a functional marker of vitamin B12 deficiency. However, MMA concentrations not only depend on adequate vitamin B12 status, but also relate to renal function and endogenous production of propionic acid. Hence, we aimed to investigate to what extent variation in MMA levels is explained by vitamin B12 and eGFR and whether MMA levels are associated with mortality if vitamin B12 and eGFR are taken into account. Methods A total of 1533 individuals (aged 60–75 years, 50% male) were included from the Lifelines Cohort and Biobank Study. Individuals were included between 2006 and 2013, and the total follow-up time was 8.5 years. Results Median [IQR] age of the study population was 65 [62–69] years, 50% was male. At baseline, median MMA concentration was 170 [138–216] nmol/L, vitamin B12 290 [224–362] pmol/L, and eGFR 84 [74–91] mL/min/1.73 m2. Log2 vitamin B12, log2 eGFR, age, and sex were significantly associated with log2 MMA in multivariable linear regression analyses (model R2 = 0.22). After a total follow-up time of 8.5 years, 72 individuals had died. Log2 MMA levels were significantly associated with mortality (hazard ratio [HR] 1.67 [95% CI 1.25–2.22], P < 0.001). Moreover, we found a significant interaction between MMA and eGFR with respect to mortality (Pinteraction < 0.001). Conclusions Only 22% of variation in MMA levels was explained by vitamin B12, eGFR, age, and sex, indicating that a large part of variation in MMA levels is attributable to other factors (e.g., catabolism, dietary components, or gut microbial production). Higher MMA levels are associated with an increased risk for mortality, independent of vitamin B12, eGFR, and sex. This association was more pronounced in individuals with impaired renal function.

Characterization of Lynch syndrome (LS) associated cancers in patients with immune dysfunction.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1532-1532 ◽  
Author(s):  
Shahla Bari ◽  
Xia Wang ◽  
Taiwo Ajose ◽  
Jameel Muzaffar
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Age Of Onset ◽  
Immune Dysfunction ◽  
Common Mutation ◽  
Related Condition ◽  
Multiple Cancers ◽  
Inflammatory Conditions ◽  
Increased Risk ◽  
Autoimmune Condition

1532 Background: LS is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2. Inappropriate immune responses as seen in chronic inflammatory conditions as well as immunodeficiency states confer increased risk of developing cancer. This aim of this study was to evaluate the effect of immune dysfunction on the characteristics of LS associated cancers. Methods: This was a retrospective analysis of LS patients and carriers at two institutions listed above. We evaluated mutational profiles, immune status, age of onset of first and subsequent cancers in this cohort. Results: 106 patients with mutations consistent with LS were included. 72 patients had at least one cancer while 34 were carriers. 44% patients were Caucasian female, 18% white males, 14% African American males, 11% African American females and 10% Hispanic females. Colon cancer (CRC) was the most common cancer (44%) and PMS2 was the most common mutation, noted in 35 patients (33%). Of the 72 patients with LS associated cancer, 18 patients were either immunosuppressed or had an autoimmune condition. Of the 10 patients who had an autoimmune condition ,7 had multiple cancers. Of the 9 patients who were immunosuppressed, 5 had multiple cancers. Out of a total of 18 out of 72 patients who had multiple cancers, 12 (66%) had either an autoimmune condition or were immunosuppressed. CRC was the index cancer in 42% and breast in 33% of patients with multiple cancers. Patients with MSH2 were most likely to have an immune related condition (32%) and accounted for 41% of patients with multiple cancers. The median age of first cancer in this group was 46 years while it was 48.5 years in the population without immune dysfunction (p = 0.2). There was a high prevalence of breast cancer (24%) as a LS associated cancer in our study population. 66% of the patients with PMS2 mutation had breast cancer with a median age of onset of 48 years (62 years for sporadic cancer). Conclusions: Our study is the first to look at the effect of immune dysfunction in LS patients. Immune dysfunction was associated with a higher rate of multiple cancers and was more commonly associated with the MSH2 mutation. It also highlights importance of aggressive screening for breast cancer in LS patients (especially with PMS2 mutation).

P413 HIGH PREVALENCE OF VITAMIN B12 DEFICIENCY IN SAMARITAN COMMUNITY ON THE MOUNT GERIZIM

2008 ◽  
Vol 3 ◽  
pp. 204
Author(s):  
E.A. Merzon ◽  
P. Singer ◽  
R. Schneeweiss ◽  
T. Rips ◽  
E. Kitai
Keyword(s):  
Vitamin B12 ◽  
Vitamin B12 Deficiency ◽  
High Prevalence ◽  
B12 Deficiency

Impacts and Burden of Niemann Pick Type-C: A Patient and Caregiver Perspective

2021 ◽  
Author(s):  
Eugen Mengel ◽  
Marc C Patterson ◽  
Michael Chladek ◽  
Christina Guldberg ◽  
Christine íDali ◽  
...  
Keyword(s):  
Lived Experience ◽  
Motor Skills ◽  
Age Of Onset ◽  
Fine Motor ◽  
Fine Motor Skills ◽  
Increased Risk ◽  
Wide Range ◽  
Type C ◽  
Niemann Pick ◽  
The Impact

Abstract Background Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspective of patients and family caregivers, this study explored the impact of NPC on patients’ and caregivers’ daily lives to understand the burden of disease.Results A survey of caregivers for patients with NPC and adult patients with NPC (n = 49; patient age: 13 months – 65 years) assessed NPC severity, importance of NPC symptoms, and how symptoms impacted patients’ and caregivers’ activities of daily living (ADLs) and health-related QOL (HRQOL). Follow-up interviews with a subset of survey participants (n = 28) explored the ranking of NPC symptom importance and impact on ADLs and HRQOL.Findings indicated that the most important manifestations of NPC were ambulation, swallowing, speech, fine motor skills, and cognition, which were those that had the most significant impact on ADLs and HRQOL. A wide range of ADLs were affected by NPC, mainly eating/drinking and ability to perform daily tasks, including self-care, communicating, participating in school or work, and moving indoors as well as outside the home. Along with these impacts, there was an increased risk of experiencing dangerous or life-threatening situations leading to loss of patient independence and additional caregiver burden, often requiring changes in lifestyle such as giving up work. All aspects of patients’ and caregivers’ HRQOL were affected. Participants reported feelings of social isolation, loss of enjoyment in activities (patients), and feelings of sadness or worry (caregivers).ConclusionsAmbulation, swallowing, speech, fine motor skills, and cognition are important manifestations of NPC. ADLs and HRQOL were impaired in the majority of patients as well as their caregivers. The findings were independent of current age, age of onset of symptoms, and level of NPC disease-related disability; however, the impact increased at higher levels of disease disability. Knowing the impact of NPC on patients and caregivers is important for understanding the lived experience of NPC and for identifying potential areas of support.Trial registrationNCT02612129. Registered 23 November 2015, https://clinicaltrials.gov/ct2/show/NCT02612129

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