scholarly journals Increased Prevalence of Minor Physical Anomalies Among the Healthy First-Degree Relatives of Bipolar I Patients – Results With the Méhes Scale

2021 ◽  
Vol 12 ◽  
Author(s):  
Tímea Csulak ◽  
Györgyi Csábi ◽  
Róbert Herold ◽  
Viktor Vörös ◽  
Sára Jeges ◽  
...  

Minor physical anomalies are somatic markers of aberrant neurodevelopment, so the higher prevalence of these signs among the relatives of bipolar I patients can confirm minor physical anomalies as endophenotypes. The aim of the study was to evaluate the prevalence of minor physical anomalies in first-degree healthy relatives of patients with bipolar I disorder compared to normal control subjects. Using a list of 57 minor physical anomalies (the Méhes Scale), 20 first-degree unaffected relatives of patients with the diagnosis of bipolar I disorder and as a comparison 20 matched normal control subjects were examined. Minor physical anomalies were more common in the ear, head, mouth and trunk regions among the relatives of bipolar I patients compared to normal controls. By the differentiation of minor malformations and phenogenetic variants, we have found that both minor malformations and phenogenetic variants were more common among the relatives of bipolar I patients compared to the control group, while individual analyses showed, that one minor malformation (sole crease) and one phenogenetic variant (high arched palate) were more prevalent in the relative group. This is the first report in literature on the increased prevalence of minor physical anomalies among the first-degree unaffected relatives of bipolar I patients. The study support the concept, that minor physical anomalies can be endophenotypic markers of bipolar I affective disorder.

2019 ◽  
Vol 244 (3) ◽  
pp. 193-206 ◽  
Author(s):  
Byoung-Seob Ko ◽  
Jin Ah Ryuk ◽  
Joo Tae Hwang ◽  
Ting Zhang ◽  
Xuangao Wu ◽  
...  

The different ojayeonjonghwan remedies all contain five fruit and seed water extracts, and they have been used for reproductive health in men and women. We hypothesized that the two OJa remedies would differently improve the early menopause-related vasomotor and neurological symptoms in estrogen-deficient animals. Ovariectomized (OVX) rats had either 0.5% dextrin (OVX-control), conjugated equine estrogen (150 μg/kg body weight; positive-control), 0.5% ojayeonjonghwan remedy-1 (OJa1), or 0.5% ojayeonjonghwan remedy-2(OJa2) in high-fat diet for 12 weeks. Normal-control rats (sham operation) were fed the same high-fat diet as OVX-control rats. Tail skin temperature, depressiveness, memory function, and body composition were determined. The mRNA expressions of hippocampal serotonin receptor (5HT)1A and 5HT2A and brain-derived neurotrophic factor(BDNF) were measured. OJa1 and OJa2 groups had lower tail skin temperatures than OVX-control. Bone mineral density (BMD) and lean body mass (LBM) measured by DEXA increased only in OJa2, and were similar to the positive- and normal-controls ( P < 0.05). In the forced swim test immobile time, an index of depressiveness was much lower in OJa1 and OJa2 than the control group. Memory as measured by passive avoidance, water maze, and Y maze tests was impaired in the OVX-control group, compared to the normal-control ( P < 0.05), but normalized in OJa1 comparable to the positive- and normal-control groups. The neurological impairments were associated with serum serotonin levels and 5HT2A mRNA expression in the midbrain, and decreased hippocampal BDNF mRNA and protein expressions in the OVX-control group compared to normal-controls ( P < 0.05). OJa1 increased serum serotonin levels and 5HT2A expression in the midbrain, and hippocampal BDNF expression to similar levels as normal-controls ( P < 0.05). In conclusion, OJa1 and OJa2 improved hot flashes and depression and maintained BMD and LBM. OJa2 prevented the impairment of memory function in OVX rats. OJa1 and OJa2 have the potential to be effective therapies for postmenopausal vasomotor and neurological symptoms. Impact statement Menopausal symptoms impair the quality of life of many women, and although conventional treatments are often effective, their use is limited by adverse effects. Ojayeonjonghwan, OJa, is a traditional Oriental medicine that is used for both male and female reproductive health and has a long history of safe use. We evaluated the effectiveness of two variations of OJa (OJa1 and OJa2) for treating menopausal symptoms in ovariectomized (OVX) rats. Both OJa preparations were effective for relieving indicators of hot flashes and depression, and for preventing loss of bone mineral density and lean body mass. Only OJa 2 prevented memory dysfunction. These results show that the traditional Oriental medicine, Ojayeonjonghwan, has the potential to relieve menopausal symptoms in women and should be further evaluated in human clinical trials as an alternative to convention therapies in women for whom conventional therapies are not indicated or found to be ineffective.


Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 709-709 ◽  
Author(s):  
Daniel B. Bellissimo ◽  
P.A. Christopherson ◽  
S.L. Haberichter ◽  
V.H. Flood ◽  
J.C. Gill ◽  
...  

Abstract Von Willebrand disease (VWD) is caused by quantitative (types 1 and 3) and qualitative (type 2) defects in von Willebrand factor (VWF). The TS Zimmerman Program for the Molecular and Clinical Biology of VWD is a multinational Program Project established to further the study of VWD in the United States and to contrast these studies with the studies initiated previously in the EU and Canada. As one of the components of this study we sought further insight into the clinical expression and penetrance of established types of VWD by performing full gene DNA sequence analysis in VWD patients and normal controls. This report is an interim report of the first 50 index cases and 113 normal individuals recruited into this study. Twenty four of these index cases were found to have known mutations, four of which had a second new mutation, and 11 cases had 1 or 2 new mutations. In cases where mutations were identified, 46% of the identified mutations were new mutations that have not been reported in the Sheffield VWF Mutation Database. In 15 patients, no mutations were identified in the coding region, although analysis of the non-coding regions is still in progress. Five of the mutations were deletions, insertions, or nonsense mutations that have clear functional consequences. The other 12 mutations were missense mutations. Since VWF polymorphisms are not well characterized in all exons, we have also completed studies of the first 113 normal control individuals in our study. These are individuals without a bleeding history and in whom full VWF laboratory testing and VWF sequencing was also undertaken. Since some estimates in the EU and Canadian studies have determined the prevalence of VWF mutations varies by the severity of type 1 VWD patients, we wanted to determine the frequency of VWF variation in a normal population and determine if sequence variations correlate with VWF levels. There were three linked common polymorphims identified in normal African Americans that are discussed elsewhere and are not included in this present analysis. We found 19 new sequence variations in the normal control group of which three (2900G>A, 6554G>A, 7997C>T) were found individually in 4–6% of the normal control samples. In addition, in 12 normal control samples we identified 6 sequence variations that were previously reported as VWF mutations. Four were reported as type 1 mutations (2220 G>A, 3686T>G, 3692A>C, 6859C>T) and two as type 2N mutations (2451T>A, 2771G>A). The 2220G>A and 2451T>A mutations were seen in 6 normal controls (5%) and 5 of these 6 normal controls had both mutations. In another normal control, both 3686T>G and 3692A>C were identified. Although the reported prevalence of VWD is 1% or greater, the frequency of these mutations in our normal controls is higher than expected (as high as 5%). In our normal control group, the mean VWF:Ag concentration in the patients with polymorphisms/mutations did not differ from the normal control group as a whole and did not cluster on the lower end of the normal range. Thus, the data on our normal individuals suggest that VWF gene variation is considerable and that many mutations and polymorphisms remain to be identified. Differentiation of those that affect the diagnosis of VWD and/or hemorrhagic risk continues to be difficult.


2000 ◽  
Vol 14 (3) ◽  
pp. 171-174 ◽  
Author(s):  
Yeol-Woong Sung ◽  
Min-Han Lee ◽  
In-Jung Kim ◽  
Dong-Woo Lim ◽  
Ki-Sang Rha ◽  
...  

The nasal cycle in patients with septal deviation was studied by acoustic rhinometric techniques. This study included 24 patients with anteriorly located septal deviations (mean age = 23.5), and 26 normal controls (mean age = 24.7). Data of MCA (minimum cross-sectional area) and NV (nasal volume), collected in 20-minute intervals, were plotted for each subject during 8 hours. Twenty of 24 patients (83%) with septal deviation and 20 of 26 normal subjects (77%) showed at least one complete cycle. Duration of the nasal cycle, which ranged from 100 minutes to 400 minutes, had no statistical difference between the septal deviation group (mean duration of 216 minutes) and the normal control group (mean duration of 227 minutes). The degrees of variation of MCA and NV, defined as Degree of Variation of MCA (%) = 100 (MCAmax – MCAmin)/MCAmax, Degree of Variation of NV (%) = 100 (NVmax – NVmin)/NVmax, which represent the percent change of MCA and NV throughout the study, showed no difference between the wide side and the narrow side, or between the septal deviation group and the normal control group. These findings suggest that the nasal cycle is relatively independent of peripheral anatomic factors for its generation. However, the amplitude of changes of MCA was greater in the wide side, and the sum of both MCAs tended to fluctuate in accordance with the fluctuation of MCA of the wide side. Thus, the nasal cycle seemed to be affected by septal deviation.


2005 ◽  
Vol 129 (10) ◽  
pp. 1295-1298
Author(s):  
Khaled K. Abu-Amero ◽  
Thomas M. Bosley

Abstract Context.—Laboratory methods currently available for detecting mitochondrial respiratory dysfunction are labor-intensive, require large amounts of isolated mitochondrial protein, invasive (require a skeletal muscle biopsy), and usually produce conflicting results. Objective.—To develop a rapid, reliable, and noninvasive method for detecting oxidative phosphorylation activity without the need to isolate mitochondrial fractions. Design.—Lymphocytes from 6 patients with mitochondrial disorders (3 with mitochondrial myopathy and 3 with Leber hereditary optic neuropathy) and 51 normal control subjects were incubated with 6μM resazurin without and with mitochondrial inhibition by amiodarone (200μM), and the fluorescence intensity resulting from resazurin reduction was monitored spectrofluorometrically over time. Mitochondrial respiratory activity was calculated as the difference between uninhibited and inhibited measurements. Results.—Mitochondrial respiratory activity was established for 51 normal control subjects and was decreased in all 6 patients with mitochondrial syndromes. Mitochondrial respiratory activity values for patients 1 through 6 compared to the control group after 240 minutes' incubation with resazurin were 55%, 71%, 49%, 61%, 68%, and 59%, respectively (mean mitochondrial respiratory activity of patients, 13.6% or 60.5% of control mean; P &lt; .001). Conclusion.—This resazurin-based technique proved to be a fast and reproducible method for quantifying mitochondrial activity and identifying respiratory functional defects in patients with mitochondrial disorders.


2011 ◽  
Vol 135 (1-3) ◽  
pp. 193-200 ◽  
Author(s):  
Valentin Akabaliev ◽  
Stefan Sivkov ◽  
Mladen Mantarkov ◽  
Ferihan Ahmed-Popova

1967 ◽  
Vol 113 (504) ◽  
pp. 1265-1266 ◽  
Author(s):  
J. R. G. Carrie

In several previous studies it has been shown that the mean tremor amplitude displayed by morbidly anxious patients is greater than that of normal control subjects. The most detailed experiments were those carried out by Redfearn (1957). He compared the findings obtained in groups of male morbidly anxious patients and controls, and in addition to confirming the existence of a difference in tremor amplitude, he reported that the tremor of male anxious patients showed a greater degree of accentuation of the 8–10 c/sec. components than the tremor of a matched control group. Halliday and Redfearn (1956) compared the tremor spectra obtained from normal male and female subjects, and found that the curve for men was similar to that for women.


1982 ◽  
Vol 50 (2) ◽  
pp. 423-433 ◽  
Author(s):  
John Brim ◽  
Connie Witcoff ◽  
Richard D. Wetzel

22 patients with primary or secondary affective disorder and 22 hospitalized control patients with no history of psychiatric disorder completed questionnaires about their relationships with other people. Similar questionnaires were completed by one friend or relative of 20 patients and 20 control subjects about the subjects' social network. Depressed patients reported that significantly fewer people were available who would offer them help or who had similar interests. They reported less contact with members of their social network. The friends or relatives of depressed patients reported the patients had fewer friends who shared values or were concerned than did those of the control group. The data were interpreted as consistent with both the helplessness and behavioral models of depression.


1989 ◽  
Vol 155 (2) ◽  
pp. 196-201 ◽  
Author(s):  
P. K. Bowden ◽  
S. W. Touyz ◽  
P. J. Rodriguez ◽  
R. Hensley ◽  
P. J. V. Beumont

Three current techniques for estimating body size (Image Marking, Visual Size Estimation, and Distorting Video techniques) were compared. Anorexia nervosa and bulimic patients and normal control subjects were required to make size judgements of the way they ‘knew’ they looked, the way they ‘felt’ they looked, and of the width of an inanimate control object. Results from the three techniques were not the same, thus implying that research findings can no longer be cross-compared. Moreover, while all subjects were similar in the accuracy of their estimation of a control object, anorexia nervosa and bulimic patients overestimated their own body size significantly more than normal controls. This difference was even more marked when affective instructions were compared.


2017 ◽  
Vol 5 (1) ◽  
pp. 37-42
Author(s):  
R. Kumar ◽  
A.R. Singh

Introduction: Personality is the important core feature and identification of an individual. Some factors in personality may be vulnerable for psychiatric illness.Objective: To compare Personality profile of Bipolar Affective Dirosder with Normal control group.Method: 30 male patients diagnosed as Bipolar affective disorder (mania) and 30 normal male were included in the study, with the aim to determine the comparison of personality characteristic of Bipolar affective disorder (Mania) and Normal control group. Each individual was given the inform consent response than collected Socio demographic and Clinical data sheet after that Young mania rating scale and 16 personality factor was applied for data collection.Result: Present study explore that the Manic (BAD) groups of subject differ significantly on all the factors except Q4 from normal controls. Higher mean scores on factor Q4 means that manic (BAD) are tense, restless, fretful & driven, extremely high tension level was disrupt school and work performance.Conclusion: Both the groups differentiated significantly on all the factors except Q4. The mean score obtained by normal control has higher in comparison of BAD-manic category.


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