Objective To report a family with lipoid proteinosis (LP) from Shandong province and to analyze mutations in the extracellular matrix protein 1 (ECM1) gene in this family.Methods Eight members in a threegeneration family with LP were clinically investigated,and two patients were identified to suffer from LP,including the proband (Ⅲ 1) and her mother (Ⅱ 2).Both of the patients presented with papules on the palpebral margin,short and thick lingual frenum,and hoarseness.Indirect laryngoscopy showed infiltrating and thickening of the vocal cord.Pathological examination of lesions on the palpebral margin and laryngeal mucosa revealed deposits of hyaline-like material in the dermis,which was strongly positive for periodic acid-Schiff (PAS) staining and resistant to diastase digestion.The pathological diagnosis was LP.Blood samples were collected from all the family members and 100 ethnically matched,unrelated and unaffected Chinese human controls followed by DNA extraction.PCR and sequencing were performed to detect the ECM1 gene,and nested PCR followed by agarose gel electrophoresis to analyze mutations in the coding region of the ECM1 gene.Results Both of the two patients were compound heterozygotes.Three missense mutations,incluing p.P169T,p.A44T and p.R392W,were found in the ECM1 gene of the affected mother,with p.P169T in one allele and p.A44T as well as p.R392W in the other.The girl patient inheried the missence mutation p.P169T from her mother and a synonymous mutation c.879G ＞ A from her father (Ⅱ 1).Nested PCR showed that the c.978G ＞ A mutation generated a splice-acceptor site AG,which leaded to a splicing defect.Conclusion A novel synonymous splice-acceptor site mutation c.879G ＞ A in the ECM1 gene is identified in the family with LP.

Academic Dissertations as Topic ; Diagnostic Imaging ; Humans

OBJECTIVETo investigate the progressive motility, (PR), total motility (progressive + non-progressive motility, PR + NP), and acrosin activity of sperm from normal and infertile men at different time points after sperm activation.

METHODSBased on the 5th edition of the WHO Laboratory Manual for the Examination and Processing of Human Semen and the results of modified Papanicolaou staining, we divided the semen samples into groups A (normal, n = 28), B (oligoasthenoteratospermia, n = 30), and C (asthenoteratospermia, n = 32). At 1, 24, and 48 hours after sperm activation, we detected sperm PR and PR + NP by CASA and chemical colorimetry, and determined sperm acrosin activity using the modified Kennedy method.

RESULTSSperm PR and PR + NP were significantly decreased in all the three groups at 1-24 hours and even more significantly at 24-48 hours after sperm activation as compared with the baseline (P < 0.05). Sperm acrosin activity showed remarkable reduction in group A (P = 0. 013) , even more significant at 1-24 hours than at 24-48 hours after sperm activation, but not in groups B and C (P = 0.519 and 0.979).

CONCLUSIONSperm PR, PR + NP, and acrosin activity are all decreased with the extension of time after sperm activation, each in a specific manner. Examination of sperm acrosin activity should be applied as a routine tool in the assessment of male fertility.

Acrosin ; metabolism ; Asthenozoospermia ; metabolism ; physiopathology ; Biomarkers ; metabolism ; Humans ; Infertility, Male ; metabolism ; physiopathology ; Male ; Semen ; Sperm Motility ; physiology ; Spermatozoa ; metabolism ; physiology ; Time Factors

OBJECTIVETo investigate clinical effects of strategy by stages for preventing respiratory complications of patients with acute cervical spinal cord injury (ACSCI).

METHODSFrom September 2009 to May 2013,the clinical data of 91 patients with ACSCI underwent surgery were retrospectively analyzed. Among the patients, 42 patients were divided into in-stages group, including 30 males and 12 females with an average age of 50 years old (ranged 28 to 76) which were treated with strategy by stages for preventing respiratory complications; others 49 patients which were not treated with the strategy regarded as control group, including 38 males and 11 females with an average age of 47 years old (ranged 30 to 77). All of them had definite history of trauma, and were admitted to orthopaedics within 48 h after trauma. In in-stages group, respiratory muscle strength training, high-dose ambroxol using and other treatment were performed to prevent respiratory complilcations according to preoperative, intraoperative and postoperative stage. While in control group, there were no systematic and effective measures utilized. Chi-square test was used to evaluate the difference for respiratory complications rate, the rate of tracheostomy or intubation and mortality caused by the respiratory complications between two groups.

RESULTSTen patients developed with respiratory complications in in-stages group (7 patients with pneumonia, 1 with atelectasis and 2 with respiratory failure), among which 3 patients underwent tracheostomy or intubation. In control group, 24 patients developed with respiratory complilcations (15 with pneumonia,3 with atelectasis and 6 with respiratory failure), among which 11 patients underwent tracheostomy or intubation. There was significant difference between two groups (χ2 = 6.12, 4.07; P = 0.013, 0.044). Five patients died because of respiratory complications, one case were in in-stages group and 4 in control group. There was significant difference between two groups (χ2 = l.39, P = 0.238).

CONCLUSIONThe strategy by stages is an effective method for preventing respiratory complications of ACSCI and can reduce the respiratory complications rate and improve the prognosis of respiratory complications.

Acute Disease ; Adult ; Aged ; Cervical Cord ; injuries ; Female ; Humans ; Male ; Middle Aged ; Pneumonia ; prevention & control ; Pulmonary Atelectasis ; prevention & control ; Respiratory Insufficiency ; prevention & control ; Retrospective Studies ; Spinal Cord Injuries ; complications ; Tracheostomy

Objective To discuss the key points of endovascular therapy for complex subclavian artery occlusive diseases. Methods During the period from January 2012 to December 2013, a total of 92 patients with complex subclavian artery occlusive disease were admitted to Xuanwu Hospital of Capital Medical University, Beijing, China. The clinical data were retrospectively analyzed. The features of the lesions, the success rate of endovascular therapy, the use of combined approaches, the relief of symptoms after treatment, etc. were evaluated. Results The complex subclavian artery occlusive diseases could be divided into three types. Type Ⅰ: long segment of the left subclavian artery was occluded; type Ⅱ: ostial stenosis or occlusion of the right subclavian artery; and type Ⅲ: subclavian artery stenosis or occlusion was associated with the ostial disorder of the vertebral artery, or the opening of vertebral artery was affected by the subclavian artery stenosis or occlusion. The technical success rate was 82.6%. Combination use of femoral artery and brachial artery approach was employed in 27.2% of patients, which had improved the technical success rate. After the treatment the symptom improvement rate was 81.6%. Conclusion Upper limb artery approach can improve the re-canalization rate of left subclavian artery with long segment occlusion, and can ensure the accurate positioning of stent at the site of right subclavian artery opening. During the procedure of endovascular intervention for subclavian artery occlusion disease, attention should be paid to the protection of the vertebral artery.

In this paper, the RP-HPLC specific chromatography was adopted, with DIKMA-C18 (4.6 mm x 250 mm, 5 µm) as the chromatographic column, with a gradient elution compose of acetonitrile and 0.1% phosphoric acid at flow rate of 0.8 mL · min(-1), the detection wavelength was 220 nm. The difference of the HPLC specific chromatograms between the Lu Dangshen and other different base sources and different producing area of Codonopsis Radix was compared, involved in the similarities and differences of the number and the relative peak area of characteristic peaks in the HPLC specific chromatograms. The HPLC specific chromatograms of Lu Dangshen was established and the relative retention times of seven peaks was determined, and the peaks of codonopyrrolidium B, syringin, lobetyolin, tangshenoside I and atractylenoide III were identified; The HPLC specific chromatograms of Lu Dangshen provided a method for scientific evaluation and effective control the quality of Lu Dangshen from Shanxi famous-region.
Chromatography, High Pressure Liquid ; methods ; Codonopsis ; chemistry ; Drugs, Chinese Herbal ; analysis ; Glucosides ; analysis ; Phenylpropionates ; analysis ; Plant Roots ; chemistry ; Quality Control

OBJECTIVETo assess the effects of acupuncture combined Chinese materia medica for tonifying shen and soothing gan (CMMTSSG) on the anxiety and depression of patients with in vitro fertilization and embryo transplantation (IVF-ET), and to observe the treatment outcomes.

METHODSTotally 97 IVF-ET patients were randomly assigned to two groups, the acupuncture combined CMMTSSG (group A, 51 cases) and the Western medicine treatment group (group B, 46 cases). The long protocol of IVF-ET in a mid luteal phase was performed in all patients. Patients in group A received acupuncture and CMMTSSG (erzhi tiangui granule and xiaoyao granule) during the process of ovarian hyperstimulation, while those in group B only received the routines of IVF-ET. The improvement of Shen deficiency Gan depression syndrome (SDGDS) between after and before treatment were observed in the two groups. The changes of self-rating anxiety scale (SAS) and Beck depression inventory (BDI) score were observed. The endometrial thickness, typing, and endometrial blood flow resistance index (RI) on the day of injecting HCG, the number of retrieved oocytes, the rate of high quality oocytes, the fertilization rate, the rate of high quality embryos, and the clinical pregnancy rate were respectively compared between the two groups.

RESULTSThe scores of SDGDS, SAS, and BDI were improved more obviously in group A than in group B, showing statistical difference (P < 0.01). There was no statistical difference in the endometrial thickness on the day of injecting HCG between the two groups (P > 0.05). The proportion of type A endometrium was 74.5% (38/51 cases) in group A and 45.7% (21/46 cases) in group B, showing statistical difference between the two groups (P < 0.01). The RI was significantly lower in group A (0.48 +/- 0.03) than in group B on the day of injecting HCG (0.52 +/- 0.06, P < 0.01). There was no statistical difference in the number of retrieved oocytes and the fertilization rate between the two groups (P > 0.05). The rate of high quality oocyte, the rate of high quality embryos, and the clinical pregnancy rate were all improved more significantly in group A than in group B, showing statistical difference between the two groups (P < 0.05).

CONCLUSIONSAcupuncture combined CM-MTSSG could obviously alleviate unfavorable emotions as anxiety and depression in patients with IVF-ET, effectively improve the treatment outcomes. Its effects might be correlated with lowering the excitability of the sympathetic nervous system, elevating the quality of oocytes, and improving the endometrial receptivity.

Acupuncture Therapy ; Adult ; Anxiety ; therapy ; Depression ; therapy ; Drugs, Chinese Herbal ; therapeutic use ; Embryo Transfer ; psychology ; Female ; Fertilization in Vitro ; psychology ; Humans ; Pregnancy ; Pregnancy Rate ; Treatment Outcome

OBJECTIVETo investigate the intra-vaginal ejaculation latency time (IELT) of varicocele patients, the influence of spermatic vein ligation on IELT, and the relationship of Visual Analogue Score (VAS) with IELT.

METHODSWe selected 112 males who had regular sexual life after spermatic vein ligation and conducted follow-up visits for 6 months. According to preoperative IELT, we divided the patients into an IELT < or = 2 min group and an IELT > 2 min group, and compared their IELT, VAS and Chinese Index of Sexual Function for Premature Ejaculation-5 (CIPE-5) scores before and 6 months after operation.

RESULTSFollow-up was accomplished in 81 of the patients, 18 in the IELT < or = 2 min group and 63 in the IELT >2 min group. Compared with the baseline, IELT was significantly prolonged postoperatively in both the IELT < or = 2 min group ([1.26 +/- 0.37] vs [4.53 +/- 1.69] min, P < 0.01) and the IELT >2 min group ([5.14 +/- 2.03] vs [7.69 +/- 4.51] min, P < 0.05); the postoperative CIPE-5 scores were remarkably improved in the former (11.27 +/- 3.52 vs 15.64 +/- 2.37, P < 0.05) but insignificantly in the latter group (20.42 +/- 4.65 vs 21.83 +/- 5.49, P > 0.05); the postoperative grades of the CIPE-5 scores showed significant differences in both groups (chi2 = 6.353, P = 0.042 and chi2 = 3.910, P = 0.048); the postoperative VAS was markedly increased (3.18 +/- 0.92 vs 1.56 +/- 0.83 and 3.24 +/- 0.95 vs 1.74 +/- 0.79, P < 0.05), with significant differences in the grades of VAS in both groups (chi2 = 4.433, P = 0.035 and chi2 = 10.088, P = 0.001). The variation of VAS was negatively correlated with that of IELT in both groups (r = -0.572, P < 0.01 and r = -0.465, P < 0.05).

CONCLUSIONVaricocele may be one of the causes of premature ejaculation, and some of the varicocele patients with IELT < or = 2 min may benefit from spermatic vein ligation. Improved VAS is negatively correlated with prolonged IELT. The relationship between varicocele and premature ejaculation deserves further studies.

Adult ; Ejaculation ; physiology ; Follow-Up Studies ; Humans ; Ligation ; Male ; Retrospective Studies ; Varicocele ; surgery ; Young Adult

Objective To evaluate the diagnostic value of MRI in brachial plexus injury.Methods Total 98 patients with brachial plexus injury were examined by MRI before operation.Fifty-four of 98 patients MR imaging were obtained by 0.5 Tesla scanner and other 44 patients were obtained by 1.5 Tesla scanner.The scanning sequences include: SE T_1WI,T_2WI,FFE T_2WI and T_2WI SPIR. Exploration of the supraclavicular plexus was carried out and the MR imaging were compared with the operative finding in 63 patients.Thirty-five patients who had not surgery were followed-up.Results MR imaging found pre-ganglionic injuries in 45 patients and post-ganglionic injuries in 56 patients.Pre-and post-ganglionic injuries simultaneously in 16 patients among them.MR imaging can not find injury sings in 13 patients.The positive rate was 86.73%.MR imaging finding of pre-ganglionic injuries include:(1) Spinal cord edema and hemorrhage,2 patients (4.44% ).(2)Displacement of spinal cord,17 patients (37.78%).(3)Traumatic meningoceles,37 patients (82.22%).(4)Absence of roots in spinal canal, 25 patients(55.56% ).(5)Scarring in the spinal cnanl,24 patients (53.33%).(6)Denervation of erector spine,13 patients (28.89%).MR imaging finding of post-ganglionic injuries include:(1)Trunk thickening with hypointensities in T_2WI,23 patients (41.07%).(2)Nerve trunk complete loss of continuity with disappeared of nerve structure,16 patients (28.57%).(3)Continuity of nerve trunk was well with disappearance of nerve structure,14 patients(25.00%).(4)Traumatic neurofibroma,3 patients (5.36%).Conclusion MR imaging can reveal Pre-and post-ganglionic injuries of brachial plexus simultaneously.MR imaging is able to determine the location (pre-or post-ganglionic)and extent of brachial plexus injury,provided important information for treatment method selection.

OBJECTIVETo evaluate the validity of Chinese drugs for reinforcing Shen and regulating Chong channel (RSRCC) on patients with polycystic ovarian syndrome (PCOS) undergoing in vitro fertilization and embryo transplantation (IVF-ET).

METHODSSixty-four patients with PCOS undergoing IVF-ET were randomly assigned to two groups, the treated group (36 cases) and the control group (28 cases), to the former, Chinese recipe for RSRCC was given additionally.

RESULTSOn the human chorionic gonadotrophin (HCG) injecting day, the percentage of three-line sign of endometrium (type A) in the treated group was 75.0% (27/36), which was higher than that in the control group (42.9%, 12/28), showing significant difference between the two groups (P < 0.01). The rates of mature oocytes, fertilization, high-qualified embryo rate, clinical pregnancy rate and incidence rate of ovary hyper-stimulating syndrome (OHSS) in the treated group were (76.8 +/- 8.2)%, (73.5 +/- 8.9)%, (89.4 +/- 14.4)%, 36.11% (13/36) and 5.56% (2/36), respectively; whereas those in the control group (64.4 +/- 8.7)%, (68.2 +/- 10.0)%, (79.5 +/- 15.2)%, 21.43% (6/28) and 10.71% (3/28); the dosage of gonadotrophin administered in the treated group was 33.8 +/- 12.5 ampoules, and in the control group 47.6 +/- 18.2 amp oules, statistical significance was shown between groups in comparing all the above-mentioned parameters (P <0.05, P <0.01). However, the number of oocytes obtained in the two groups was insignificantly different (P > 0.05).

CONCLUSIONCombined use of Chinese drugs for RSRCC in IVF-ET can reduce the dosage of gonadotrophin administered and raise the clinical pregnant rate.

Adult ; Combined Modality Therapy ; Drugs, Chinese Herbal ; therapeutic use ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Polycystic Ovary Syndrome ; drug therapy ; therapy