Association between age at onset of multiple sclerosis and vitamin D level in Saudi population

Background: Several studies have shown an association between 25-hydroxyvitamin D (Vitamin D) levels and multiple sclerosis (MS). This study aimed to evaluate association between age at onset of Multiple Sclerosis and vitamin D level in Saudi population.Methods: This cross-sectional study was performed in the Neurology Department king Fahd Military Hospital Jeddah in the Kingdom of Saudi Arabia (KSA) included 75 patients with MS and 99 healthy controls group matched for gender and age. Comparing vitamin D measurement in multiple sclerosis patients at the time of diagnosis with healthy controls group.Results: We found no significant association between age at onset of multiple sclerosis and vitamin D level in Saudi population p value (0.723). However we also found that 74.66% of the sample Members who had MS and has a deficient of vitamin D and 83.83% people of the sample members didn’t have MS, but vitamin D was deficient with them.Conclusions: Study has revealed a high rate of vitamin D deficiency in patients with MS and in the controls group, as well Therese no clear relation to MS, Thus Therese no significant association between age at onset of multiple sclerosis and vitamin D level in Saudi population.

Late-onset non-thymomatous myasthenia gravis: Comparison with early-onset and very late-onset myasthenia gravis

Objective: To identify the clinical characteristics of patients with myasthenia gravis (MG) according to age at onset. Methods: We retrospectively recruited 227 non-thymomatous MG patients with adult onset who had been followed up for more than one year. The patients were classified based on the age of symptom onset as “early-onset MG” (EOMG,18–50 years; N=135), “late-onset MG” (LOMG, 50–64 years; N=53), and “very late-onset MG” (VLOMG, 65 years; N=39). Clinical features and serological findings were compared between these groups. Results: LOMG patients showed more frequent ocular MG (55%) and less frequent thymic hyperplasia (9%) compared to EOMG patients (31% and 38%; p=0.006 and p<0.001, respectively), and no female preponderance compared to VLOMG patients (female, 49% vs.77%; p=0.014). However, there were no significant differences between VLOMG and EOMG patients, except for more frequent thymic hyperplasia (p<0.001) in EOMG patients. When analyzing female patients only, less frequent secondary generalization (10%) were additionally found in LOMG patients, compared to EOMG (47%, p= 0.008) and VLOMG (59%, p=0.004) patients. Anti-acetylcholine receptor antibody (HR, 5.48; 95% CI, 1.73–17.37; p=0.004) was independently associated with secondary generalization in female EOMG patients. Conclusion: Our study suggests that LOMG patients, especially female, were characterized by frequent ocular MG and less frequent secondary generalization, distinguished from EOMG and VLOMG patients. Further large epidemiologic studies in Korea are needed to determine the characteristics of MG patients according to the age at onset and gender.

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations.

Background: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusual delayed presentation of CHED with compound heterozygous SLC4A11 mutations. Materials and Methods: A 45‑year‑old female, presenting with bilateral decreased vision since childhood that deteriorated in the last 5 years, was evaluated to rule out trauma, viral illness, chemical injury, glaucoma, and corneal endothelial dystrophies. Tear sample was sent for herpes simplex viral (HSV) antigen testing. Genomic DNA from peripheral blood was screened for mutations in all exons of SLC4A11 by direct sequencing. Full‑thickness penetrating keratoplasty was done and corneal button was sent for histopathological examination. Results: Slit‑lamp findings revealed bilateral diffuse corneal edema and left eye spheroidal degeneration with scarring. Increased corneal thickness (762 μm and 854 μm in the right and left eyes, respectively), normal intraocular pressure (12 mmHg and 16 mmHg in the right and left eyes, respectively), inconclusive confocal scan, and specular microscopy, near normal tear film parameters, were the other clinical features. HSV‑polymerase chain reaction was negative. Histopathological examination revealed markedly thickened Descemet’s membrane with subepithelial spheroidal degeneration. SLC4A11 screening showed a novel variant p.Ser415Asn, reported mutation p.Cys386Arg and two polymorphisms, all in the heterozygous state and not identified in 100 controls. Conclusions: The study shows, for the first time, compound heterozygous SLC4A11 mutations impair protein function leading to delayed onset of the disease.

Potential Relationship between Season of Birth and Clinical Characteristics in Major Depressive Disorder in Koreans: Results from the CRESCEND Study

We aimed to examine the potential relationship between season of birth (SOB) and clinical characteristics in Korean patients with unipolar non-psychotic major depressive disorder (MDD). Using data from the Clinical Research Center for Depression (CRESCEND) study in South Korea, 891 MDD patients were divided into two groups, those born in spring/summer (n=457) and those born in autumn/winter (n=434). Measurement tools comprising the Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Brief Psychiatric Rating Scale, Scale for Suicidal Ideation, Clinical Global Impression of severity, Social and Occupation Functional Assessment Scale, WHO Quality of Life assessment instrument-abbreviated version, Alcohol Use Disorder Identification Test, and Temperament and Character Inventory were used to evaluate depression, anxiety, overall symptoms, suicidal ideation, global severity, social function, quality of life, drinking, and temperament and character, respectively. Using independent t-tests for continuous variables and χ2 tests for discrete variables, the clinical characteristics of the two groups were compared. MDD patients born in spring/summer were on average younger at onset of first depressive episode (t=2.084, p=0.038), had greater loss of concentration (χ2=4.589, p=0.032), and were more self-directed (t=2.256, p=0.025) than those born in autumn/winter. Clinically, there was a trend for the MDD patients born in spring/summer to display the contradictory characteristics of more severe clinical course and less illness burden; this may have been partly due to a paradoxical effect of the 5-HT system.

Gender Differences in Clinical Presentations of Cystic Fibrosis Patients in Azeri Turkish Population / 결핵및호흡기질환

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder with several clinical presentations. This study was undertaken in the Azeri Turkish population in Iran, to investigate gender differences in the age at onset and diagnosis, age of death, and duration of illness of CF. METHODS: The data of 331 CF patients from 2001 to 2015 was surveyed. Parameters including age, sex, ΔF508 mutation, age at onset, age at diagnosis, age of death and clinical presentations were evaluated for both sexes, using descriptive analysis. The association of gender with these variables was studied using logistic regression, chi-square test and Mann-Whitney U test by SPSS version 18. Odds ratio with a confidence interval of 95% and p≤0.05 was considered statistically significant. RESULTS: The study included 191 males (57.7%) and 140 females (42.3%), all showing statistically significant difference (p<0.001). Age duration differed between genders. Male and female patients were further under 9 and 4 years, respectively. The occurrence of ΔF508 mutation was 0.51 times more in females than in males. Age, diagnosis and sex were closely associated: males were diagnosed at a significantly later age than females (p=0.05). While this compression performed based on clinical presentations, males with respiratory disease had a later median age at diagnosis than females at lifespan (p=0.001). The risk of infertility in males was approximately two times greater than in females (p=0.02). CONCLUSION: These findings indicate gender differences in CF patients. Future studies are needed to establish other differences and evaluate the causes for the gender variations.

Does Age at Onset of First Major Depressive Episode Indicate the Subtype of Major Depressive Disorder?: The Clinical Research Center for Depression Study

PURPOSE: The purpose of this study was to evaluate the effects of age at onset of the first major depressive episode on the clinical features of individuals with major depressive disorder (MDD) in a large cohort of Korean depressed patients. MATERIALS AND METHODS: We recruited 419 MDD patients of age over 18 years from the Clinical Research Center for Depression study in South Korea. At the start of the study, the onset age of the first major depressive episode was self-reported by the subjects. The subjects were divided into four age-at-onset subgroups: childhood and adolescent onset (ages <18), early adult onset (ages 18-44), middle adult onset (ages 45-59), and late onset (ages 60+). Using analysis of covariance (ANCOVA) and ordinal logistic regression analysis with adjusting the effect of age, the relationships between clinical features and age at onset of MDD were evaluated. RESULTS: There was an apparent, but inconsistent correlation between clinical features and age at onset. Earlier onset MDD was significantly associated with higher proportion of female gender [adjusted odds ratio (AOR)=0.570, p=0.022], more previous suicide attempts (AOR=0.635, p=0.038), greater number of previous depressive episodes (F=3.475, p=0.016) and higher scores on the brief psychiatric rating scale (F=3.254, p=0.022), its negative symptom subscale (F=6.082, p<0.0001), and the alcohol use disorder identification test (F=7.061, p<0.0001). CONCLUSION: Early age at onset may increase the likelihood of distinguishable MDD subtype, and age at onset of the first major depressive episode is a promising clinical indicator for the clinical presentation, course, and outcome of MDD.

Association of language dysfunction and age of onset of benign epilepsy with centrotemporal spikes in children / 中国小儿急救医学

Objective To assess language function in children with benign epilepsy with centrotemporal spikes in children(BECTS) and its association with the age of epilepsy onset.Methods We assessed language function in 63 children with BECTS and 30 age and sex matched controls by the subtest of CWISC.Results Children with BECTS performed significantly worse on all language tasks as compared to controls and overall better language function was positively correlated with older age of the child.Early age at seizure onset demonstrated significant negative correlation with language dysfunction,age below 6 years being related to the lowest performance scores(P ＜ 0.05).There was no relationship between the language function and the laterality of epileptic focus,seizure treatment status,or the duration of epilepsy(P ＞ 0.05).There was significant relationship between the language dysfunction and onset age of epilepsy (P ＜ 0.05).Conclusion Children with BECTS have language difficulties that are more pronounced in younger age group.Despite better language functioning in older children with BECTS,their verbal abilities remain inferior to those of children without epilepsy.Early age at seizure onset is a significant factor predicting worse language functioning in children with BECTS.

Epidemiology and genetics of dilated cardiomyopathy in the Indian context.

Background: Dilated cardiomyopathy (DCM) still remains to be a poorly understood and less analyzed group of cardiac-muscle disorders when compared to hypertrophic cardiomyopathy (HCM). Also, the vast clinical heterogeneity among the patients has rendered the small and isolated kindred studies less informative on the genetics and epidemiology of DCM. Aim of the study: The study aimed at understanding the epidemiology and genetics of DCMs in the Indian context. Materials and methods/ Statistical analysis: One hundred seven DCM patients and 105 healthy individuals were included in the study for epidemiological and genetic risk factor identification and to fit the possible mode of inheritance. Single's ascertainment methodology for segregation analysis and Penrose frequency estimates were followed to evaluate for the role of specific epidemiological factors in the disease etiology. Chi-square analysis was carried out to interpret the results statistically. Results and Conclusion: Our study suggests that epidemiological factors like gender, age at onset and vegetarian diet in conjunction with sarcomere gene mutations may play a role in the disease expression. Similarly, segregation analysis for the possible mode of inheritance showed a deviation from the autosomal dominant mode of inheritance, strengthening the underlying genetic heterogeneity of DCM.

Clinical Features and Prognosis Related to Age at Onset in Bipolar Disorder: A Prospective 1 Year Follow-Up / 신경정신의학

OBJECTIVES: There have been several studies demonstrating that age at onset is associated with clinical and functional outcome in bipolar disorder. The purpose of this study was to investigate whether age at onset would influence on the prognosis of patients with bipolar I disorder in a Korean sample. METHODS: Thirty-one patients with bipolar I disorder (DSM-IV) were recruited. Age at onset was split at age 30 years into early onset (n=15) and late onset (n=16) groups. These patients were followed at 1 year to assess re-hospitalization, psychiatric symptoms (Brief Psychiatric Rating Scale, Young Mania Rating Scale), and social functioning (Korean version of the Social Adjustment Scale II revised version : KSAS II-RV). The subgroups were compared by Mann-Whitney U test and chi-square test. RESULTS: Early onset group had more psychotic symptoms at hospitalization (chi-square=5.743, p=.029) and had more KSAS IIRV score after 1 year (U=49.000, p=.004). Other psychiatric symptoms except psychosis were not significantly different between early onset and late onset group. KSAS II-RV score was not significantly correlated with BPRS and YMRS score. CONCLUSION: Our data suggest that early onset group may have poorer social functioning than late onset group in bipolar I disorder.

Genetic heterogeneity in duodenal ulceration.

Background: Duodenal ulcer (DU) is a multifactorial disorder with different etiological and pathogenetic mechanisms. Evidence for the role of genetic factors such as familial aggregation, twin studies, ABO blood groups, ABH nonsecretor status and hyperpepsinogenemia have been reported in DU. Genetic heterogeneity of cases with familial incidence will provide information regarding the association of qualitative and quantitative traits. Aim: Hence, the present study is envisaged at identifying the segregant and deviant groups based on parental phenotypes and their association with other quantitative markers. Materials AND Methods: 62 out of 462 endoscopically confirmed duodenal ulcer cases were considered for the analysis of genetic heterogeneity. This was resolved through the calculation of genetic risk estimates of sporadic cases in multiplex families based on different modes of inheritance and variation in associated genetic and biochemical markers. Results: Mean age at onset in simplex and multiplex cases was found to vary indicating the presence of genetic heterogeneity in the expression of the disease. Segregant and deviant groups were identified based on mortons probability risk estimates and examined for the possible association of qualitative and quantitative markers such as pepsinogen phenotype, serum and tissue pepsinogen levels, cathepsin E, malondialdehyde and ceruloplasmin levels. Conclusions: The study thus highlighted the presence of genetic heterogeneity in the expression of the disease. The risk factors associated with segregant type were normal serum and tissue pepsinogen levels increased malondialdehyde levels and association of AC phenotype while the deviant group was characterized by early age at onset with hyper pepsinogenemia and reduced cathepin E levels.

Clinical Analysis of Sensory Strabismus

PURPOSE: This study was carried out for the clinical analysis of deviation axis of sensory strabismus METHODS: We retrospectively reviewed the medical records of 100 patients who had been diagnosed with sensory strabismus and undergone surgery. Etiology, age at onset of vision loss, duration of vision loss, refraction in sound eye, angle of deviation according to sensory esotropia and exotropia were analyzed. RESULTS: The most common etiology was corneal opacity which occurred in 17 patients (17.0%). Fifteen patients had esotropia and 85 patients exotropia. Esotropia was commonly developed in congenital origin (9 patients, 60%) and under the age of 5 years (12 patients, 80%). Exotropia was commonly developed in acquired origin (68 patients, 80%) and over the age of 6 years (53 patients, 62.4%) (P=0.003). When the refraction in sound eye was hyperopia, esotropia developed in 3 patients (18.8%) and exotropia in 13 patients (81.2%). When the refraction in sound eye was myopia, esotroia developed in 12 patients (14.3%) and exotropia in 72 patients (85.7%). But there was no statistical significance (P=0.445). CONCLUSIONS: Type of horizontal strabismus in sensory strabismus was significantly related to the age at onset of vision loss, but not to the refraction in sound eye.

Risk Figures For Vitiligo Among The Relatives Of The Probands.

A study of 720 probands of vitiligo with positive family history indicated early mean age at onset for the female probands (19.68 + 17.76) as compared to male probands (25.43 + 13.87). The incidence of the condition among the biological relatives of the patients studied showed a prevalence rate of 7.31% which is considerably high from the prevalence of 0.95% of the condition observed in the population of our country. The risks estimated for different relatives of the proband indicated higher risk for progeny of the proband as compared to the sibs. The risk for the cousins of the probands was about two to three folds higher as compared to that in the offsprings and the sibs.

Study and Evaluation on Early and Late Onset Psoriasis / 中华皮肤科杂志

Objective To verify whether there is any difference between early-onset and late onset subtypes of psoriasis and the rationality of this classification. Methods A total of 1 632 patients with psoriasis vulgaris were included in this study. The distribution of age at onset was calculated. The disease severity at first visit and follow up, and the family history were assessed according to different ages at onset. The results were evaluated in the light of the data from a national psoriasis survey in 1984. Results There was only one peak regarding to the age at onset in psoriasis vulgaris, rather than two peaks according to our study, it was consistent with the results of the national large scale survey reported in 1984. It was found that the earlier the age at onset, the more frequently the patient had positive family history. There was some relationship between the disease severity and the age at onset, however, a clear cut age at onset by which the disease serverity could be determined was not identified in this study. Conclusion It is suggested that the early age at onset be related only to the increased possibility of family history. Its value in clinical management is not significant.