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OBJECTIVE@#To explore the genetic basis for a patient diagnosed with tuberous sclerosis complex (TSC).@*METHODS@#Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect potential variant, and the result was verified by Sanger sequencing.@*RESULTS@#The patient was found to harbor a heterozygous c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene. The same variant was not found in his unaffected parents and 100 unrelated healthy controls. Based on the American College of Medical Genetics and Genomics guidelines, the variant was predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The novel c.1053delG (p.Glu352SerfsX10) frameshifting variant of the TSC2 gene probably underlay the TSC in this patient.
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Humans , Genomics , Heterozygote , Mutation , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 2 Protein/geneticsABSTRACT
Objective To investigate the clinical features ,diagnosis and treatment of cesarean scar pregnancy (CSP) .Methods We retrospectively analyzed the medical history ,clinical manifestation ,diagnoses ,treatments and outcomes of 42 patients with ec‐topic pregnancy in the cesarean scar .Results All cases got diagnosed by transvaginal ultrasound .The error rate of first diagnosis was 40 .4% (17/42) .There were 25 cases of conservative therapy ,in which 12 cases were resolved with laparoscopic surgery and 1 case resolved with open surgery ;in the first process 15 cases were carried out laparoscopic surger in which 1 case were converted to laparotomy ;abdominal surgery were underwented in 1 case and were cured .Only one case underwent abdominal total hysterectomy as of failure after uterine artery embolization .After initial conservative treatment 3 cases were hospitalized again and 2 cases under‐went reoperation .41 patients were successfully retained the uterus and normal menstrual cycle returned at two months after opera‐tion .Conclusion The early diagnosis for CSP mainly depended on ultrasound and the thickness of incision muscle layer is an impor‐tant basis for choice of treatment .Checking the thickness of incision muscle layer for CSP mainly depended on ultrasound ,and lapa‐roscopic surgery is an ideal method for diagnosis and treatment of CSP .
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Objective To observe the effect of mouse nerve growth factor (mNGF) on treating herpes zoster.Methods The 64 patients with herpes zoster were divided into treatment group and control group by random digits table with 32 cases each.The control group received only routine treatment,the treatment group based on routine treatment combined with mNGF 30 μ g,both groups were treated 14 days.Pain changes of two groups were observed in once every 5 days,a total of 1 month.Results The times of pain to lessen and the pain to vanish of treatment group were (4.36 ± 2.01) and (12.29 ± 1.98) d,those of control group were (7.23 ±3.57) and (20.36 ±2.24) d,there were significant differences (t =5.21 and 8.37,P ＜0.01).The effective rate of treatment group was significantly higher than that of control group [96.9％(31/32) vs.71.9％(23/32),P＜0.05].Conclusion mNGF combined with routine treatment can significantly shorten the course of nerve injury and improve the prognosis with few adverse reactions.
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Objective To observe the expressions of two inhibitors of apoptosis proteins (LAPs), survivin and livin, as well as their related factors, Bci-xl and Caspase-3 in mycosis fungoides (MF), along with the effects of NB-UVB irradiation on them. Methods Totally, 30 patients with MF (5 at erythema stage, 16 at plaque stage and 9 at tumor stage) collected from 1995 to 2007 were included into this study. Of the patients, 11 received the treatment with NB-UVB irradiation. Tissue samples were resected from 30 untreated patients, 11 irradiated patients and 10 normal human controls. SABC immunohistochemistry (IHC) stain was used to evaluate the protein expression of survivin, livin, Bel-xi and caspase-3 in these samples. Also, the mRNA expression of these four factors and cell apoptosis were detected by hybridization in situ (ISH) and terminal deoxynucleotidyl transferase (TdT)-mediated dUTP-fluorescence nick end labeling (TUNEL stain) respectively in the samples from 11 patients before and after NB-UVB irradiation. Results In samples of erythema-stage MF, plaque-stage MF and tumor-stage MF, the positivity rate was 40.00%, 75.00%, 77.78% for survivin respectively, 60.00%, 68.75%, 88.89% for Bcl-xl respectively, 40%, 25%, 44.44% for livin respectively, and 60.00%, 68.75%, 88.89% for caspase-3 respectively. No expression of survivin or Bcl-xl was observed in normal controls, while the expression of livin and caspase-3 was similar between MF and control samples. After NB-UVB irradiation, an increase was noticed in the count of apoptosis cells (t=6.49, P<0.001) and mRNA expression of caspase-3 (P<0.10), while a decrease in the mRNA expression of survivin and Bcl-xl in MF tissues, and no changes occurred to the mRNA expression of livin (P>0.10). Conehsions Survivin, Bcl-xl and caspase-3 may be associated with the pathogenesis of MF by regulating the cell apoptosis of T lymphocytes. NB-UVB could suppress the mRNA expression of survivin and Bcl-xl, lower the levels of LAP, enhance the transcription of caspase-3, and accelerate the apoptosis of tumor cells, which may partly explain the mechanism of therapeutic effect of NB-UVB in MF.
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BACKGROUND: As a stressor, severe acute respiratory syndrome (SARS)caused great psychological pressure during its outbreak in 2003 and SARSpatients suffered a sustained psychological stress. Investigation of the correlation of SARS onset with its psychology and etiology is now ongoing and the roles that the psychological factors might play in the disease course of SARS remain undefined.OBJECTIVE: To study the psychological status of SARS patients in the recovery stage so as to provide evidence to assist the resolution of their psychological problems.DESIGN: A sampling survey based on SARS patients.SETTING: Department of Rehabilitation with Breathing Exercise, Guang'anmen Hospital, China Academy of Traditional Chinese Medicine.PARTICIPANTS: SARS patients in the recovery stage, whose conditions were controlled and showed signs of improvement, were selected from the Third Disease Department and other departments, Beijing Geriatrics Hospital between April and June in 2003.INTERVENTIONS: Psychological status of SARS patients in the recovery stage was assessed with Symptom Check List (SCL-90) and Trait Coping Style Questionnaire (TCSQ).MAIN OUTCOME MEASURES:①Psychological statrs of SARS patients in the recovery stage;②differences of SCL-90 scores of SARS patients in the recovery stage in relation to sexes ,ages and education.RESULTS:①The somatization symptom scores of SARS patients in recovery stage in relation to sexes, ages and education.ery stage were significantly higher than norm( P ＜ 0.05), but those for compulsion, personal relationship, hostility and paranoia were significantly( P ＜ 0.05)②The somatization and anxiety scores of female patients were significantly higher than the female norm. Except somatization and psychoticism, the other factors of male patients had lower scores than norm. Moreover, the scores of SCL-90, somatization, anxiety and phobia in male SARS patients were significantly lower than those in female patients.③All factors in the aged group(50-60) scored less than those in other age groups, but scores for anxiety and somatization in patients between 30 -40years of age were obviously higher than those in other age groups, suggesting greater inpact of these two factors in these age group.④Patients receiving higher education had significantly lower scores for all factors except for somatization and anxiety than those with lower education.⑤Patients who used negative coping style had higher scores for all factors in SCL-90 than those who used positive coping style.CONCLUSION: The psychological status of SARS patients in the recovery stage are basically normal, but the anxiety of the female patients can be increased obviously, and the patients with lower education and those who use negative coping style have significant different psychology from other patients.