OBJECTIVE: To explore the genetic basis for a girl featuring epilepsy, developmental delay and regression. METHODS: Clinical data of the patient was collected. Activities of hexosaminidase A (Hex A) and hexosaminidase A&B (Hex A&B) in blood leukocytes were determined by using a fluorometric assay. Peripheral blood samples were collected from the proband and six members from her pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing. RESULTS: Enzymatic studies of the proband have shown reduced plasma Hex A and Hex A&B activities. Genetic testing revealed that she has carried c.1260_1263del and c.1601G>C heterozygous compound variants of the HEXB gene. Her mother, brother and sister were heterozygous carriers of c.1260_1263del, while her father, mother, three brothers and sister did not carry the c.1601G>C variant, suggesting that it has a de novo origin. Increased eosinophils were discovered upon cytological examination of peripheral blood and bone marrow samples. CONCLUSION The compound heterozygous variants of c.1260_1263del and c.1601G>C of the HEXB gene probably underlay the Sandhoff disease in this child. Eosinophilia may be noted in infantile Sandhoff disease.
Child ; Eosinophilia/genetics* ; Female ; Genetic Testing ; Hexosaminidase A/genetics* ; Hexosaminidase B/genetics* ; Humans ; Male ; Mutation ; Pedigree ; Sandhoff Disease/genetics*

Objective:To investigate the clinical characteristics of bipolar disorder patients who present with depressive symptoms at their first episode.Methods:A total of 1 600 bipolar disorder patients with the first episode of depression who participated in the clinical pathway survey of bipolar disorder were included in this study. Demographic data, clinical phenotype, and symptomatic characteristics when they presented with their first mania were described. One-way analysis of variance was applied to compare the clinical characteristics between patients who visited the general hospitals and the ones who visited the mental health centers, and chi-square test was applied to compare symptomatology of patients at the first hypomania/mania episode and their mania relapse.Results:The average time from the first depressive episode to the first hypomanic/manic episode was 3.63 years. It took an average of 1.83 years from the first hypomanic/manic episode to the diagnosis of bipolar mania, and only 45.4% (728 cases) were diagnosed as bipolar disorder when they presented with depression at their first episode; It was an average of 5.45 years from the first depressive episode to the diagnosis of bipolar disorder; There were statistically significant differences in the number of previous depressive episodes ( F=7.119, P=0.008) and the total number of previous episodes ( F=3.980, P=0.046) between bipolar disorder patients seen in the mental health centres and general hospitals. The top three symptoms of the first manic episode were mood elation (83%, 215 cases); increased activity (81.5%, 211 cases); increased speech (79.9%, 207 cases). Compared with recurrent manic episodes, patients at their first manic episode were more likely to report more gregarious (χ2=13.277, P<0.01), eloquent/humorous (χ2=10.665, P=0.001), and less likely to report excessive use of psychoactive substances (χ2=3.990, P=0.046). Conclusions:It takes a long time for the diagnosis of bipolar disorder who presents with the depressive mood in their first episode. The first manic episode is not easy to identify, and the patients treated in general hospitals have more frequent depressive episodes, while the first manic episode shows some different symptoms from the recurrent manic episodes.

Objective:To investigate the clinical characteristics of bipolar disorder patients who present with depressive symptoms at their first episode.Methods:A total of 1 600 bipolar disorder patients with the first episode of depression who participated in the clinical pathway survey of bipolar disorder were included in this study. Demographic data, clinical phenotype, and symptomatic characteristics when they presented with their first mania were described. One-way analysis of variance was applied to compare the clinical characteristics between patients who visited the general hospitals and the ones who visited the mental health centers, and chi-square test was applied to compare symptomatology of patients at the first hypomania/mania episode and their mania relapse.Results:The average time from the first depressive episode to the first hypomanic/manic episode was 3.63 years. It took an average of 1.83 years from the first hypomanic/manic episode to the diagnosis of bipolar mania, and only 45.4% (728 cases) were diagnosed as bipolar disorder when they presented with depression at their first episode; It was an average of 5.45 years from the first depressive episode to the diagnosis of bipolar disorder; There were statistically significant differences in the number of previous depressive episodes ( F=7.119, P=0.008) and the total number of previous episodes ( F=3.980, P=0.046) between bipolar disorder patients seen in the mental health centres and general hospitals. The top three symptoms of the first manic episode were mood elation (83%, 215 cases); increased activity (81.5%, 211 cases); increased speech (79.9%, 207 cases). Compared with recurrent manic episodes, patients at their first manic episode were more likely to report more gregarious (χ2=13.277, P<0.01), eloquent/humorous (χ2=10.665, P=0.001), and less likely to report excessive use of psychoactive substances (χ2=3.990, P=0.046). Conclusions:It takes a long time for the diagnosis of bipolar disorder who presents with the depressive mood in their first episode. The first manic episode is not easy to identify, and the patients treated in general hospitals have more frequent depressive episodes, while the first manic episode shows some different symptoms from the recurrent manic episodes.

Disclosure ; Genetic Counseling ; Genetic Testing ; United States

Objective·To compare the clinical features between different subtype bipolar patients with first mania episode, and to contribute to early identification of bipolar disorder. Methods·This study was based on the database named as National Bipolar Mania Pathway Survey (BIPAS). From November 2012 to January 2013, bipolar patients from 26 mental health facilities in China were enrolled in current study. The clinical features were compared between mania patients of different subtypes, including hypomania (groupⅠ), mania without psychotic symptoms (groupⅡ), mania with psychotic symptoms (group Ⅲ) and mixed state (group Ⅳ). Results·There was significant difference in the percentage of clinical symptoms between different subtype bipolar patients with first mania episode, especially the mania and anxiety related symptoms. Group Ⅰ, Ⅲ , Ⅳ were further compared with groupⅡ, which was considered as the typical bipolar disorder. The results showed that the mania related symptoms was significantly higher in group Ⅱ, but anxiety related symptoms was significantly higher in group Ⅰ, Ⅲ, Ⅳ. Moreover, Logistic regression analysis revealed that more eloquent or humor and unusually restless could be in favor of the diagnosis of hypomania; younger and mania or hypomania as first episode might be in favor of the diagnosis of mania with psychotic symptoms; older, national minorities and unusually restless could be in favor of the diagnosis of mixed state. Conclusion·The clinical features between different subtype bipolar patients with first mania episode are various, and analysis of the clinical features can contribute to early identification of bipolar disorder.

Bipolar disorder (BD) is a chronic mental illness with high recurrence rate and disability. As one of the core symptoms, cognitive impairment may occurs at every stage of the disease. Evidence from the neuroimaging studies revealed that the abnormal brain volumes, the blood flow and oxygen saturation of key brain areas are related to executive impairment in patients with bipolar disorder. This article reviews current structural and functional neuroimaging studies about the executive impairment of patients with euthymic bipolar disorder and research progresses.

OBJECTIVETo observe the impact of plant sterol esters (PSE) mixed in low fat milk powder (2.5 g of PSE/day) on plasma cholesterol levels in hypercholesterolemic subjects during a 6-week intervention period.

METHODSIn this double-blind, randomized, placebo-controlled study, 59 subjects (19 males, mean age (60.28 ± 6.98) years) with primary hypercholesterolemia (fasting LDL cholesterol between 3.4-6.0 mmol/L) were randomly divided into two groups (treatment group, 2.5 g of plant sterol esters a day, n = 30) and placebo group (n = 29). Blood samples were collected at week 0, 3 and 6. The primary outcome was change in plasma LDL-cholesterol (LDL-C). Secondary outcomes were changes in total cholesterol (TC), HDL cholesterol (HDL-C), triglycerides (TG), anthropometry and blood biochemistry.

RESULTSLDL-C significantly reduction from baseline (4.18 ± 0.54) mmol/L to (3.44 ± 0.61) mmol/L (-17.7%, P < 0.05) at week 3 and (3.35 ± 0.39) mmol/L (-19.9%, P < 0.05) at week 6 in the treatment group, whereas in placebo group from (4.11 ± 0.54) mmol/L at baseline to (3.47 ± 0.60) mmol/L (-15.57%, P < 0.05) and (3.61 ± 0.39) mmol/L (-12.17%, P < 0.05) at week 3 and week 6, respectively. TC was reduced from (6.30 ± 0.86) mmol/L at baseline to (5.92 ± 0.75) mmol/L (-6.03%, P > 0.05) at week 3 and (5.43 ± 0.77) mmol/L (-13.8%, P < 0.05) at week 6 in treatment group, from (6.20 ± 0.76) mmol/L at week 0 to (5.70 ± 0.76) mmol/L (-8.06%, P < 0.05) at week 3 and (5.84 ± 0.75) mmol/L (-5.81%, P < 0.05) at week 6 in placebo group. PSE-enriched milk did not affect plasma HDL-C level and TG level at both week 3 and week 6. After normalization to the placebo group, the treatment group showed significant reduction in LDL-C and total cholesteron after 6 weeks. The observed difference of reduction was 7.69% (-0.33 mmol/L, P < 0.05) for LDL-C and 8.00% (-0.51 mmol/L, P < 0.05) for TC between the two groups. There were no significant changes in safety parameters, including blood biochemistry tests during the study period.

CONCLUSIONPlant sterol ester enriched milk powder is effective in reducing LDL-C among Chinese hypercholesterolemic subjects at a dosage recommended by EFSA.

Animals ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Double-Blind Method ; Female ; History, 18th Century ; Humans ; Hypercholesterolemia ; diet therapy ; Lipids ; Male ; Middle Aged ; Milk ; Phytosterols ; pharmacology ; therapeutic use ; Triglycerides

Objective To observe the impact of plant sterol esters ( PSE ) mixed in low fat milk powder (2.5 g of PSE/day) on plasma cholesterol levels in hypercholesterolemic subjects during a 6-week intervention period.Methods In this double-blind, randomized, placebo-controlled study, 59 subjects (19 males, mean age ( 60.28 ±6.98 ) years ) with primary hypercholesterolemia ( fasting LDL cholesterol between 3.4-6.0 mmol/L) were randomly divided into two groups ( treatment group , 2.5 g of plant sterol esters a day, n=30) and placebo group (n=29).Blood samples were collected at week 0, 3 and 6.The primary outcome was change in plasma LDL-cholesterol ( LDL-C).Secondary outcomes were changes in total cholesterol ( TC) , HDL cholesterol ( HDL-C) , triglycerides ( TG) , anthropometry and blood biochemistry.Results LDL-C significantly reduction from baseline ( 4.18 ±0.54 ) mmol/L to ( 3.44 ±0.61 ) mmol/L (-17.7%, P<0.05) at week 3 and (3.35 ±0.39) mmol/L ( -19.9%, P<0.05) at week 6 in the treatment group , whereas in placebo group from ( 4.11 ±0.54 ) mmol/L at baseline to ( 3.47 ±0.60 )mmol/L (-15.57%, P<0.05) and (3.61 ±0.39)mmol/L (-12.17%, P<0.05) at week 3 and week 6, respectively.TC was reduced from ( 6.30 ±0.86 ) mmol/L at baseline to ( 5.92 ±0.75 ) mmol/L (-6.03%, P>0.05 ) at week 3 and ( 5.43 ±0.77 ) mmol/L ( -13.8%, P <0.05 ) at week 6 in treatment group, from (6.20 ±0.76)mmol/L at week 0 to (5.70 ±0.76) mmol/L (-8.06%, P<0.05) at week 3 and (5.84 ±0.75) mmol/L ( -5.81%, P<0.05) at week 6 in placebo group.PSE-enriched milk did not affect plasma HDL-C level and TG level at both week 3 and week 6.After normalization to the placebo group , the treatment group showed significant reduction in LDL-C and total cholesteron after 6 weeks.The observed difference of reduction was 7.69% ( -0.33 mmol/L, P <0.05 ) for LDL-C and 8.00%(-0.51 mmol/L, P<0.05) for TC between the two groups.There were no significant changes in safety parameters , including blood biochemistry tests during the study period.Conclusion Plant sterol ester enriched milk powder is effective in reducing LDL-C among Chinese hypercholesterolemic subjects at a dosage recommended by EFSA.

ObjectiveTo compare the recovery rates calculated according to different criteriain patients with urogenital Chlamydia trachomatis (Ct) infection after treatment with azithromycin. Methods Clinical data on outpatients who were diagnosed with urogenital Ct infection and treated with azithromycin in the sexually transmitted disease(STD) outpatient clinic of Tianjin Medical University General Hospital were retrospectively reviewed. Recovery rates were calculated according to the improvement of symptom and (or) reexamination results of Ct at 1,5 and 9 weeks after the end of treatment.ResultsSignificant differences were observed between the recovery rates calculated according to symptom improvement and those according to laboratory reexamination results.No obvious correlation existed between the presence of symptom and positive reexamination results.The recovery rates calculated according to the second reexamination result differed significantly from those according to the first reexamination result,but were similar to those according to the third reexamination result. ConclusionsThe cure of Ct infection should be determined according to laboratory test results,and two times of reexamination at 1 and 5 weeks after the final treatment are recommended.