A cross-sectional study to assess beta-cell function in individuals with recently diagnosed young-onset type 2 diabetes mellitus and its’ complications / Journal of the ASEAN Federation of Endocrine Societies

Objective@#The primary objective was to assess beta-cell function of recently-diagnosed young-onset type 2 diabetes mellitus (T2DM) individuals using basal and stimulated C-peptide levels. The secondary objective was to examine the association between C-peptide with metabolic factors and diabetes complications.@*Methodology@#A cross-sectional study was conducted for young-onset T2DM individuals aged 18-35 years with a disease duration of not more than 5 years. Plasma C-peptide was measured before and after intravenous glucagon injection. Demographic data, medical history and complications were obtained from medical records and clinical assessment. Continuous data were expressed as median and interquartile range (IQR). Categorical variables were described as frequency or percentage. Multivariable linear regression analysis was used to determine factors associated with C-peptide levels.@*Results@#113 participants with young-onset T2DM with a median (IQR) age of 29.0 (9.5) years and 24 (36) months were included in this study. The median (IQR) basal and stimulated C-peptide was 619 (655) pmol/L and 1231 (1024) pmol/L. Adequate beta-cell function was present in 78-86% of the participants based on the basal and stimulated C-peptide levels. We found hypertension, obesity and diabetic kidney disease (DKD) to be independently associated with higher C–peptide levels. In contrast, females, smokers, those on insulin therapy and with longer duration of disease had lower C–peptide levels.@*Conclusion@#Most recently diagnosed young-onset T2DM have adequate beta-cell function. Elevated C-peptide levels associated with obesity, hypertension and diabetic kidney disease suggest insulin resistance as the key driving factor for complications.

A Rare Incidence of Accelerated Dementia Onset Post Traumatic Brain Injury in a 22 year old: a case report

A 22 year old male presented with symptoms of fast-escalating cognitive degeneration and behavioral impairment after a period of clinical recovery post severe traumatic brain injury (TBI). Neuroimaging found extensive mild-moderate cortico-cerebral atrophy not really corresponding to his primary TBI lesions. A diagnosis of dementia [ICD F02.8] was made and patient was treated accordingly, in conjunction with Neurology services, with emphasis on neuro-cognitive rehabilitation. Extensive testing could not find any other likely causes for this condition, which was then postulated to be generalized secondary post-TBI neurodegenerative changes. His symptoms are currently improved and stabilized with ongoing maintenance-phase management, but as this condition is not reversible – this case report discusses likely etiopathological processes and corresponding management options (both presently available and those likely to become so in near future) to be aware of.

Adapting AVATAR Therapy: Using available digital technology for people living with Auditory Verbal Hallucinations in Low and Middle Income Countries

A 22 year old male presented with symptoms of fast-escalating cognitive degeneration and behavioral impairment after a period of clinical recovery post severe traumatic brain injury (TBI). Neuroimaging found extensive mild-moderate cortico-cerebral atrophy not really corresponding to his primary TBI lesions. A diagnosis of dementia [ICD F02.8] was made and patient was treated accordingly, in conjunction with Neurology services, with emphasis on neuro-cognitive rehabilitation. Extensive testing could not find any other likely causes for this condition, which was then postulated to be generalized secondary post-TBI neurodegenerative changes. His symptoms are currently improved and stabilized with ongoing maintenance-phase management, but as this condition is not reversible – this case report discusses likely etiopathological processes and corresponding management options (both presently available and those likely to become so in near future) to be aware of..

Genetic Analysis of a Young Adult Presented with Acute Myocardial Infarction with No Traditional Risk Factors: A Novel Case Report

@#Myocardial infarction (MI) in the young adults are more common among the Asians compared to the Caucasians. It is of great interest to investigate the genetic risks that increase the susceptibility of MI in young patients with no family history. We conducted a genetic analysis on a young adult diagnosed with acute MI. The coronary angiogram showed acute complete occlusion of the left anterior descending artery with 40% left ventricular ejection fraction (LVEF). Patient’s DNA was subjected to genotyping using Infinium Asian Screening Array. The genotypes were annotated and associated with risks of cardiovascular diseases catalogued in GWAS database. Ninety-four genetic variants were detected. Patient has more than half of the genetic variants being homozygous risk genotypes for coronary artery and coronary heart diseases. Identifying the potential genetic modifiers associated with MI in young patients is of great interest to help the clinician make informed decisions to implement preventive and personalised medicine for this patient.

Clinical profile of Filipino patients with young-onset gout

Objectives@#Recent studies show that patients with young-onset gout present with visible tophi or nephrolithiasis on diagnosis. In the Philippines, where gout is prevalent, there is no published work on this subset of patients. This study presents the clinical characteristics of a cohort of Filipino patients with gout whose symptoms started at 30 years of age or younger. @*Methods@#The case records of all patients who fulfilled the 1977 American College of Rheumatology (ACR) criteria for gout seen in four adult rheumatology services were reviewed. We selected those whose age of onset of gout was at 30 years or younger. The demographic characteristics, medical history, laboratory parameters, and presenting manifestations were described. @*Results@#Six hundred sixty-nine records of patients with gout were reviewed; 101 (15%) fulfilled the young-onset gout criteria. The mean age of onset was 25±4.40 years (range 14-30), and the mean disease duration before diagnosis was 12.64±11.91 years. All of the patients were male and most were married; 76% were alcoholic beverage drinkers and 38% were smokers. A family history of gout was noted in 47%. Most patients (66%) were already on nonsteroidal anti-inflammatory drugs (NSAIDs), 24% on colchicine, and 14% on urate-lowering therapy before consult at the rheumatology clinic. By history, at onset, the most common pattern of joint involvement was monoarthritis (95%), affecting the ankles (60%), knees (52%), and 1st metatarsophalangeal (MTP) joint (51%). However, on the first rheumatology clinic visit, 34% of arthritis was polyarticular, more than 68% had more than three arthritis attacks per year, and there were tophi in 35%. The mean duration before visible tophi formation was 2.81±6.75 years. Around 21% had nephrolithiasis or a history thereof. The mean serum uric acid (SUA) was 9.18 mg/dL and the mean serum creatinine was 1.5 mg/dL. Thirty-seven percent had estimated glomerular filtration rate (GFR) <60 mL/min. @*Conclusion@#Young-onset gout was present in 15% of our patients and gout was familial in 47%. There was a delay in diagnosis of as long as ten years in most of the patients. On presentation at the rheumatology clinic, more than 34% had polyarticular arthritis, 35% had tophi, and 37% had low estimated GFR. This emphasizes the importance of awareness and prompt diagnosis to ensure correct treatment and prevention of complications

Cardiometabolic risk factors leading to Diabetes Mellitus among the Young (YOD) from the 8th Philippine National Nutrition Survey / Journal of the ASEAN Federation of Endocrine Societies

Objectives@#This study looked into the prevalence of diabetes mellitus (DM) and risks for cardiovascular and metabolic diseases among young adults with diabetes (age 20-44 years old, YOD) and late-onset DM (≥45 years old, LOD) in Filipinos.@*Methodology@#Weighted data from 546,580 adults with DM from the 8th Philippine National Nutrition and Health Survey (NNHeS) were utilized. Differences in sociodemographic, anthropometric, clinical profiles and metabolic risks were compared between YOD and LOD.@*Results@#The aggregated prevalence of DM is 5.43% (95%CI, 5.10–5.79), YOD were 2.64% (95% CI, 2.32–3.00) and LOD 9.85% (95%CI, 9.18–10.56). Mean age of YOD was 37,6 years, LOD 59,9 years. The YOD were mostly males (56%), with higher BMI (26.24 kg/m2 vs 25 kg/m2, p=0.002), lower mean SBP (122.41±19.17 mmHg vs 135.45±22.47 mmHg, p<0.001), more daily smokers (23% vs 14%), and alcoholic beverage drinkers (39% vs 31%). Physical activity was similar between groups (44% vs 51%, p=0.078). However, average total caloric intake (1776.78±758.38 kcal vs 1596.88±639.16 kcal, p=0.023) and carbohydrate intake (306.13±142.16 grams vs 270.53±104.74 g, p=0.014) were higher in YOD. Dietary carbohydrate proportions were higher than recommended (69% vs 68%) for both groups. Young Filipinos had higher risk to develop diabetes when they are obese II (22% vs 12%), current drinker (56% vs 37%), and current smoker (28% vs 18%). Eighty percent of YOD and LOD had metabolic syndrome (MetS). With every unit increase in age and fat intake, the odds of having MetS were raised by 5.4% (95%CI 1%–10%, p=0.029) and 1.6% (95%CI 0.04%-3%, p=0.044), respectively.@*Conclusion@#Early-onset diabetes mellitus appears to be driven by obesity, MetS and social behaviors. Modifiable risk factors can be improved early to decrease hazards to develop cardiometabolic complications.

Complications of Diabetes Mellitus: Prevention in Type 2 Diabetes Mellitus

@#Type 2 Diabetes Mellitus is a complex disorder which has many associated comorbidities besides hyperglycaemia. Micro and macrovascular complications develop as a result of poor risk factor control and contribute to the disability, reduced quality of life and reduced life expectancy associated with the disease. Intensive glucose control and, more importantly, comprehensive care involving treatment of all modifiable cardiovascular risk factors over a sustained period decreases the risk of morbidity and mortality especially in people newly diagnosed with Type 2 Diabetes Mellitus. The need to recognise subgroups of people with diabetes with increased risks of complications and the importance of individualised treatment are also discussed. Early intensive treatment and control of risk factors provides the opportunity for greatest accrual of benefit over the longer term.

Characteristics of Tremor in Young or Late Onset Parkinson's Disease / 中国康复理论与实践

Objective To compare the characteristics of tremor and improvement after acute levodopa challenge test in young onset Parkinson's disease(YOPD)and late onset Parkinson's disease(LOPD)with a cross-sectional study. Methods From Match to September,2017,70 Parkinson's disease inpatients with rest or postural tremor in at least one extremity were included,in which 23 patients were in YOPD group,and other 47 in LOPD group according to their ages of onset.They finished acute levodopa challenge test and were analyzed for dominant tremor frequen-cy,amplitude and rhythm under resting state,posturing and holding 1000 grams state,respectively. Results YOPD group was younger(t=-2.423,P<0.01)with lower Hoehn-Yahr stage(χ2=-4.604,P<0.05),and needed less equivalent dose of levodopa at early stage(first five years)(t=-2.119,P<0.05).There was a bigger ratio of patients with rest tremor in frequency of four to six Hz in YOPD group than in LOPD group(χ2=3.896,P<0.05). Rigidity and bradykinesia scores of LOPD group positively correlated with the course of disease (r=0.34, P<0.05),while it was not found in YOPD group. Conclusion Tremor expresses most in the classical way in YOPD patients,and tremor analysis could help to diagnose young adults. Both YOPD and LOPD patients get well in acute levodopa challenge test, while YOPD patients need less equivalent dose of levodopa at early stage.

Disease awareness may increase risk of suicide in young onset dementia: A case report / Consciência da doença pode aumentar risco de suicídio na demência de início precoce: relato de caso

ABSTRACT Studies report that people with young onset Alzheimer's disease (YOAD) have higher levels of disease awareness compared to those with late onset AD. We report a case of a man with YOAD who had preserved awareness of disease, depression and risk of suicide associated with the development of the dementia. Cognitive functioning, disease severity, depressive symptoms and awareness of disease were assessed using validated measures. The person with YOAD showed a moderate level of disease severity and high degree of dependence for activities of daily living. There was recognition of memory problems and routine changes with presence of intense pessimism, low self-esteem and suicidal ideation. This case points to the existence of specific issues related to young onset dementia and the clinical importance of identifying and treating patients who might be aware of their condition.

RESUMO Estudos relatam que pessoas com doença de Alzheimer (DA) de início precoce possuem maior consciência da doença comparadas com as de início tardio. Descrevemos o caso de um homem com DA de início precoce, que apresenta consciência da doença preservada, depressão e risco de suicídio associado ao desenvolvimento da demência. O funcionamento cognitivo, gravidade da doença, sintomas depressivos e a consciência da doença foram acessados através de instrumentos validados. A pessoa com DA de início precoce apresentou um nível de gravidade da doença moderado e um elevado grau de dependência para as atividades de vida diária. Houve reconhecimento dos problemas de memória e mudanças de rotina com presença de pessimismo intenso, baixa autoestima e ideação suicida. Esse caso indica a existência de questões específicas relacionadas à demência de início precoce e a importância clínica de identificar e tratar pacientes que possam estar conscientes de sua condição.

Comparing the clinical outcomes of young-onset and adult-onset ulcerative colitis: a multi-center Korean Association for the Study for Intestinal Diseases study

BACKGROUND/AIMS: The aim of this study was to compare the clinical features and outcomes of ulcerative colitis (UC) according to the age of onset in Korea. METHODS: A total of 1,141 patients who were diagnosed with UC between July 1987 and November 2013 at 11 tertiary hospitals were enrolled. The baseline disease characteristic and disease state at onset, treatment during the disease course were retrospectively reviewed among patients with young-onset (YO, < 20 years) and adult-onset (AO, ≥ 20 years). Severe outcome was defined as use of intravenous (IV) steroids, infliximab, immunosuppressant, or UC-related operation. RESULTS: There were 55 YO patients (mean age, 17.8 ± 2.4) and 1,086 AO patients (mean age, 43.0 ± 13.6). High Mayo scores (7.7 ± 3.0 vs. 5.6 ± 2.7, p = 0.000), extensive UC (52.7% vs. 25.8%, p = 0.000) and IV steroid (41.8% vs. 18.0%, p = 0.000), immunosuppressant (47.3% vs. 26.9%, p = 0.002), and infliximab (20.0% vs. 7.2%, p = 0.001) use were more frequent in the YO than in the AO group. According to multivariate analysis, severe outcomes were related to YO disease (hazard ratio [HR], 2.18; 95% confidence interval [CI], 1.27 to 3.71), body mass index < 23 kg/m² (HR, 1.46; 95% CI, 1.07 to 2.00), severe (HR, 2.29; 95% CI, 1.36 to 3.38), and moderate (HR, 2.48; 95% CI, 1.67 to 3.67) disease, extensive UC (HR, 2.90; 95% CI, 1.79 to 4.69), UC-related admission (HR, 63.89; 95% CI, 20.41 to 200.02), and oral steroid use (HR, 0.51; 95% CI, 0.39 to 0.67). CONCLUSIONS: UC with YO presented with more advanced clinical features at onset and more severe outcomes than the AO. YO cases require careful management and intense treatment strategies.

Quality of life in young onset dementia: an updated systematic review / Qualidade de vida na demência de início precoce: uma revisão sistemática atualizada

Introduction Young onset dementia (YOD) develops before 65 years of age and has specific age-related adverse consequences for quality of life (QoL). We systematically examined factors related to the QoL of people with YOD and their caregivers. Method This systematic review used the PRISMA methodology. The literature search was undertaken on July 5, 2015, using Cochrane, PubMed, SciELO, PsycINFO, Scopus and Thomson Reuters Web of Science electronic databases. The search keywords included early onset and young onset combined with, dementia, Alzheimer, vascular dementia, mixed dementia, frontotemporal dementia, quality of life, well-being and unmet needs. Nine studies were included. We revised objectives, study design, sample, instruments and results related to QoL. Results People with YOD rated their own QoL significantly higher than their caregivers. Greater awareness of disease among people with YOD is associated with better QoL in caregivers. A relationship was found between unmet needs and daytime activities, lack of companionship and difficulties with memory. Issues associated with unmet needs were prolonged time to diagnosis, available health services and lack of caregiver's own future perspective. Conclusion Consideration should be given to conducting investigations with more homogeneous samples and use of a clear concept of QoL. The present study highlights the need for future research in a wider range of countries, using instruments specifically for YOD. It would be interesting if studies could trace parallels with late onset dementia groups.

Introdução A demência de início precoce se desenvolve antes dos 65 anos e possui consequências adversas específicas relacionadas à idade para a qualidade de vida (QV). Nós examinamos de forma sistemática fatores ligados à QV de pessoas com demência de início precoce e seus cuidadores. Método Foi utilizada a metodologia PRISMA, com busca nas bases de dados Cochrane, PubMed, SciELO, PsycINFO, Scopus e Thomson Reuters Web of Science electronic em 5 de julho de 2015. Foi utilizada a palavra-chave início precoce combinada com demência, Alzheimer, demência vascular, demência mista, demência frontotemporal, qualidade de vida, bem-estar e necessidades não atendidas. Nove estudos foram incluídos. Foram revisados os objetivos, desenho, amostra, instrumentos e resultados relacionados à QV. Resultados Pessoas com demência de início precoce pontuaram sua própria QV significantemente mais alta que seus cuidadores. A maior consciência da doença entre essas pessoas é associada com melhor QV dos cuidadores. Foi encontrada relação entre necessidades não atendidas e atividades diárias, falta de companhia e dificuldades com a memória. A demora na definição do diagnóstico, os serviços de saúde disponíveis e a falta de perspectivas futuras do cuidador foram fatores associados às necessidades não atendidas. Conclusão Deve-se considerar a possibilidade de conduzir investigações com amostras mais homogêneas e um conceito mais claro de QV. O presente estudo chama atenção para a necessidade de pesquisas em mais países, utilizando instrumentos específicos para pessoas com demência de início precoce. Seria interessante se estudos pudessem traçar paralelos com grupos de início tardio.

Young onset colorectal cancer: How does it differ from its older counterpart.

BACKGROUND: Colorectal cancer in the young has been a debated topic in literature with conflicting reports as to its pattern of occurrence and survival as compared to the older age group. MATERIALS AND METHODS: Retrospective study to analyze the clinicopathological characteristics, treatment modalities and survival of sporadic young‑onset colorectal cancer (YOCR) patients (<40 years) and compare them with the older group (>40 years). RESULTS: Of 172 patients managed, 72 (42%) were in the YOCR group. Among 72 patients, six were excluded because of hereditary syndromes. Incontinence (P = 0.02) and obstruction at time of presentation (P = 0.03) was significantly more common in the YOCR group. Left sided disease was more common in YOCR group (47/66) compared to the older group (65/100), but the difference was not statistically significant (P = 0.45). The proportion of rectal cancers was significantly more in the YOCR group (39/47) compared to the older group (39/65) (P = 0.01). Significant difference in resectability was noted in the left sided (YOCR 26/47 vs. older 49/65 P = 0.04) and the rectal cancers (YOCR 18/39 vs. Older 29/39 P = 0.02). The survival was similar among the two groups. CONCLUSIONS: Sporadic colorectal cancers in the young are more advanced and less resectable when compared to older population. Genetic studies are needed to elaborate the reasons for left sided predominance and aggressiveness of sporadic colorectal cancers in the younger subgroups.

Frontotemporal dementia: clinical, neuropsychological, and neuroimaging description / Demencia frontotemporal: descripción clínica, neuropsicológica e imaginológica

Objetivo: To describe the relation between the clinical, neuropsychological, and brain imaging findings in a group of patients with fronto temporal dementia. Methods: A sample of 21 patients was collected, and their charts, cognitive profiles, and brain imagines were reviewed; all patients were evaluated as outpatients at the Hospital Psiquiátrico Universitario del Valle, in Cali, Colombia. Results: The mean age was 59.8 years old, the time elapsed between the beginning of the symptoms and the diagnosis was 2.7 years, the more frequent variant was the behavioral one, the main alteration at the magnetic resonance imaging was the frontotemporal atrophy, and the more frequent alteration on the brain SPECT was the frontotemporal hypo perfusion. On the cognitive evaluation the main finding was the normal scoring in praxis, which was related to a temporo parietal hypo perfusion at the brain SPECT (p <0.02). Mimnimental either CLOX were useful as screening tests.

Objetivo: Describir la relación entre los hallazgos clínicos, neuropsicológicos e imagenológicos en un grupo de pacientes con el diagnóstico de DFT. Métodos: Se revisaron las historias clínicas, pruebas cognitivas e imágenes cerebrales estructurales y de perfusión de 21 pacientes del Hospital Psiquiátrico Universitario del Valle, Cali, Colombia. Resultados: El promedio de edad fue de 59.8 años, el tiempo de evolución de la enfermedad fue de 2.7 años, la variante más frecuente fue la comportamental, la alteración más frecuente en la RMN fue la atrofia frontotemporal y en el SPECT fue la hipoperfusión frontotemporal. El hallazgo más importante fue el rendimiento normal del 61.9% de los pacientes en pruebas de praxis, la cual se relacionó con alteración en la perfusión temporo parietal en el SPECT (p <0.02). El minimental ni el clox sirvieron como pruebas de tamizaje.

Age-related Differences in the Clinical Course of Crohn’s Disease in an Asian Population: A Retrospective Cohort Review.

The aim of this study was to compare the clinical characteristics and treatment outcomes of patients with young- and adult-onset Crohn’s disease. Among 79 consecutive Crohn’s disease patients (11 (13.92%) with onset ≤16 years old), young-onset Crohn’s disease was significantly associated with fever(36.36 vs. 14.71%, P 0.041), weight loss (72.7 vs. 29.4%, P 0.003), isolated abdominal pain (45.45 vs. 16.18%, P 0.013), lower body mass index ( 17.32 vs. 21.29 kg/m2, P 0.019), and extra-intestinal manifestation, particularly oral (45.5% vs. 22.1%, P 0.049) and perianal lesion (63.6% vs. 36.8%, P 0.046). In both groups, ileocolonic disease and inflammatory lesion were the most prevalent site of involvement and dominant disease behavior respectively. Their complication and bowel resection rate were similar but the former took a longer period of time to develop in the young-onset group (84 vs 24 month, P 0.018). Cox proportional hazard regression analysis revealed that active smoking and delayed use of immuno-suppressive therapy were the only independent risk factors associated with increased risk of complications.