[Mechanism of Xiaoluanwan(II) in treating mouse epididymitis through the regulation of NLRP3 inflammasome].

OBJECTIVE: This study aimed to investigate the mechanism of Xiaoluanwan(II) in treating lipopolysaccharide(LPS)-induced epididymitis and its impact on the NLRP3 inflammasome. METHODS: The murine epididymitis model was established through local injection of LPS. The study included a control group (n=5), a model group (n=5), a model group treated with Xiaoluanwan(II) (Ⅱ) (n=5), and a saline group treated with Xiaoluanwan(II) (n=5). After 14 consecutive days of oral administration of Xiaoluanwan(II) or physiological saline, pathological changes in the epididymal tissues, expression levels of NLRP3 inflammasome and Caspase-1, as well as associated protein levels were examined. RESULTS: Compared to the model group, Xiaoluanwan(II) significantly alleviated inflammatory cell infiltration and lesions, as evidenced by a reduction in the protein expression levels of NLRP3, Caspase-1, Cleaved-Caspase-1, IL-1ß, IL-18, GSDMD, and p-p38 MAPK (P<0.05 or P<0.01), thereby mitigating the inflammatory response. CONCLUSION: Xiaoluanwan(II) alleviates epididymal inflammation and ameliorates mouse epididymal epithelial injury by modulating the NLRP3-mediated cell pyroptosis pathway.

[Clinical observation of Xiaoluowan (II) in treating epididymitis].

OBJECTIVE: To observe the clinical efficacy of Xiaoluowan (II) on epididymitis. METHODS: 61 patients with epididymitis were divided into two groups, acute group (23 cases) and non-acute group (38 cases) . Both groups of patients were treated with Xiaoluowan (II) 6g twice a day orally, while acute group patients were given antibiotics intravenously. The treatment period is 4 weeks. The acute group evaluates the therapeutic efficacy comprehensively based on changes in clinical symptoms and signs, while recording changes in visual pain score (VAS). Chronic epididymitis symptom index (CESI) was used to evaluate the clinical symptoms before and after treatment in the non-acute group, and the curative efficacy was evaluated. RESULTS: After treatment, the VAS scores in the acute group decreased from 7.08 ± 1.09 to 2.10 ± 1.37 (P<0.05). Total efficiency is 82.60% . In the non-acute group, the scores of pain before and after treatment were 7.08 ± 1.09 and 2.10 ± 1.37, the scores of quality of life were 7.28 ± 1.14 and 1.87 ± 1.56, the total scores were 14.37 ± 1.78 and 3.97±2.73, respectively. The difference was significant(P<0.05). Total efficiency is 84.21% . CONCLUSION: Xiaoluowan (II) is an effective method to treat epididymitis and an effective supplement to modern medicine.

[Influence of the germline microbiome on male health and related diseases].

The reproductive microbiota plays an important role in male health and the development and progression of related diseases, but few studies have been reported on its action mechanism and future application. Microbiotas exist in different parts of the male reproductive system, as in the prostate, testicles and semen, with specific microbial characteristics. They are different in structure, bacterial abundance and dominant bacterial genera, and meanwhile closely related because of the relationship between the male reproductive and urinary systems in anatomy and function. The microbiota in the male reproductive system plays an essential role in maintaining the general and local homeostasis of the human genitourinary system. Imbalance of microbiotas can lead to the development and progression of related diseases. An insight into the action mechanism of microbiotas may contribute to the discovery of diagnostic biomarkers and new therapeutic targets for male diseases. This review summarizes the effects of reproductive microbiotas on male health and related diseases in order to help solve relevant clinical problems.

[Distribution of TCM syndrome types and their correlation semen parameters in infertility patients with varicocele].

OBJECTIVE: To explore the distribution of Traditional Chinese Medicine (TCM) syndrome types and their relationship with semen parameters in infertility male patients with varicocele (VC). METHODS: Using Questionnaire on Clinical Symptoms of Varicocele-Caused Male Infertility, we made an investigation among 147 infertility male patients with VC, determined the types of their TCM syndromes, obtained their semen parameters, and analyzed the distribution of the TCM syndrome types and their correlation with semen parameters. RESULTS: Of the TCM syndrome types identified, kidney deficiency and stagnated heat constituted the largest proportion (34.7%), and the mixed type accounted for a significantly higher percentage than the simple type (P < 0.05). The patients with kidney deficiency and stagnated heat, compared with those with other syndrome types, had a dramatically lower sperm concentration (ï¼»21.62 ± 9.25ï¼½ vs ï¼»28.88 ± 12.92ï¼½ ×106/ml, P < 0.01), but a higher percentage of morphologically abnormal sperm (ï¼»98.33 ± 0.15ï¼½% vs ï¼»96.27 ± 0.18ï¼½%, P < 0.05) and DNA fragmentation index (ï¼»19.72 ± 3.17ï¼½% vs ï¼»10.96 ± 3.82ï¼½%, P < 0.01). No statistically significant differences were observed in the percentage of progressively motile sperm among different TCM syndrome types. CONCLUSIONS: Kidney deficiency and stagnated heat is a main TCM syndrome type in infertility male patients with varicocele and correlated with sperm concentration, the percentage of morphologically abnormal sperm and DNA fragmentation index.

[Jujing Gouju Granules promote reproductive function in rats with spermatozoa].

OBJECTIVE: To observe the intervention effect of Jujing Gouju Granules (JGG) on teratozoospermia (TZ) in rats and explore its action mechanism. METHODS: Thirty-two male SD rats were randomly divided into four groups of an equal number: normal control, TZ model control, high-dose JGG and low-dose JGG. The TZ model was established in the latter three groups of rats by intragastric administration of methyl methanesulfonate at 4 mg/100 g body weight/day for 7 consecutive days. After successful modeling, the animals in the high- and low-dose JGG groups were treated with JGG at 0.288 and 0.072g/100 g body weight/d, respectively, while the normal controls with the same dose of normal saline, all for 48 days. At two days after medication, all the rats were sacrificed and the right epididymides harvested for sperm counting, sperm motility analysis, observation the sperm morphology, and determination of contents of fructose, zinc, α-glucosidase and superoxide dismutase (SOD) in the epididymal suspension, the levels of IL-6, IL-8 and TNF-α in the seminal plasma, and that of reactive oxygen species (ROS) in the sperm. RESULTS: Both sperm concentration and motility were significantly increased and the percentage of morphologically abnormal sperm decreased in the JGG groups compared with the model controls, even more significantly in the high- than in the low-dose JGG group (P < 0.05). No statistically significant difference was found in the contents of fructose and zinc in the epididymal suspension among the four groups, but that of α-glucosidase was remarkably lower in the TZ model than in the normal controls (ï¼»50.31 ± 2.12ï¼½ vs ï¼»67.23 ± 3.54ï¼½ U/L, P < 0.05), but higher in the high- and low-dose JGG groups (ï¼»79.36 ± 2.35ï¼½ and ï¼»56.25 ± 3.44ï¼½ U/L) than in the model control group (P < 0.05). The level of ROS was markedly higher and that of SOD lower in the TZ model than in the normal controls, while the former was lower and the latter was higher in the JGG groups than in the TZ model controls (P < 0.05), even more significantly in the in the high- than in the low-dose JGG group (P < 0.05). Compared with the TZ model controls, the rats in the JGG groups showed dramatically decreased levels of IL-6, IL-8 and TNF-α in the seminal plasma, even more significantly in the high- than in the low-dose JGG group (P < 0.05). CONCLUSIONS: Jujing Gouju Granules can improve sperm morphology in teratozoospermia rats, possibly by regulating oxidative stress and inflammation-related factors.

[Immune mechanisms of the active ingredients of Chinese medicinal herbs for chronic prostatitis].

Chronic prostatitis is a common male disease, and its pathogenesis is not yet clear. Most scholars believe that oxidative stress and immune imbalance are the keys to the occurrence and progression of chronic prostatitis. Currently immunotherapy of chronic prostatitis remains in the exploratory stage. This article relates the active ingredients of 5 Chinese medicinal herbs (total glucosides of paeony, tripterigium wilfordii polglycosidium, curcumin, geniposide, and quercetin) for the treatment of chronic prostatitis and their possible action mechanisms as follows: 1) inhibiting the immune response and activation and proliferation of T-cells, and adjusting the proportion of Th1/Th2 cells; 2) upregulating the expression of Treg and enhancing the patient's tolerability; 3) suppressing the activation of the NF-kB factor, reducing the release of iNOS, and further decreasing the release of NO, IL-2 and other inflammatory cytokines, which contribute to the suppression of the immune response; 4) inhibiting the production of such chemokines as MCP-1 and MIP-1α in order to reduce their induction of inflammatory response. Studies on the immune mechanisms of Chinese medicinal herbs in the treatment of chronic prostatitis are clinically valuable for the development of new drugs for this disease.

[Modified Jujing No.2 Decoction for varicocele-induced male infertility].

Objective: To investigate the clinical effect of Jujing No.2 Decoction on male infertility induced by varicocele. METHODS: We equally randomized 70 male patients with varicocele-induced infertility into a treatment group and a control group, the former treated with modified Jujing No.2 Decoction (1 dose a day, bid) and the latter given Danshen Tablets (4 tablets once, tid) plus Liu Wei Di Huang Wan (8 pills once, tid), both for 3 months. We examined the spermatic veins of the patients by ultrasonography and performed seminal analysis before and after medication. RESULTS: Compared with the controls, the patients in the treatment group showed significant improvement after medication in sperm concentration (ï¼»12.35±2.12ï¼½ vs ï¼»18.56±4.16ï¼½ ×106/ml, P<0.05), progressively motile sperm (ï¼»16.18±6.34ï¼½ vs ï¼»24.63±8.51ï¼½ %, P<0.05), and morphologically normal sperm (ï¼»11.59±5.31ï¼½ vs ï¼»14.17±6.02ï¼½ %, P<0.05). In the control group, sperm concentration was increased from (12.29±2.07) ×106/ml at the baseline to (13.13±3.13) ×106/ml after medication, progressively motile sperm from (16.13±6.45) % to (20.55±7.30) % (P<0.05), and morphologically normal sperm from (11.62±5.35) % to (12.69±5.77) %. The total effectiveness rate was significantly higher in the treatment than in the control group (71.88% vs 46.67%, P<0.05). The inner diameter of the left spermatic vein was decreased from (0.32±0.05) mm at the baseline to ï¼»0.26±0.05ï¼½ mm after medication in the treatment group (P<0.05) and from (0.32±0.03) mm to (0.29±0.04) mm in the control (P<0.05), with statistically significant difference between the two groups after medication (P<0.05). CONCLUSIONS: Jujing No.2 Decoction is effective in the treatment of varicocele-induced male infertility.

A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.

Partial trisomy 9 is a common autosomal trisomy, which is characterized by non-specific psychomotor delay, mental retardation and moderately abnormal characteristic facial features. Generally, partial trisomy 9 leads to variable phenotypes depending on the size and position of the duplicated region. However, a precise genotype/phenotype map has not been determined. The present study reports the case of a 3-year-old female with certain typical features of trisomy 9p syndrome, who presented with a number of the distinctive symptoms, as well as sensorineural hearing loss, which has not previously been associated with this trisomy. Karyotype, M­FISH and OaCGH analysis were performed on the patient and her parents. The final karyotype was determined to be 47, XX, +mar.ish der (9) (wcp9+). arr cgh 9pterq21.12 (DOCK8 → LOC138225)x3. Cytogenetic results showed a de novo extra der (9) with 69.5 Mb duplication. Although the molecular mechanism underlying the hearing loss is unclear, it was proposed that the 9q13 → 9q21 region may be critical for hearing.

[Distribution, combination, and evolution of syndromic etiologies of erectile dysfunction].

OBJECTIVE: To explore the distribution, combination and evolution of various syndromic etiologies of erectile dysfunction (ED) based on the syndrome etiology theory. METHODS: Using the ED Syndromic Etiology Scale, we collected the clinical data on the Chinese medicine diagnoses of 297 cases of ED, extracted the core syndromic etiologies by analysis of principal components and factors, and analyzed the patterns of distribution, combination, and evolution of ED syndromic etiologies according to the general information of the patients. RESULTS: Through analysis of principal components and factors, 9 core syndromic etiologies were extracted, i. e. , liver constraint with qi stagnation, kidney yin deficiency, damp-heat, liver constraint transforming into liver-fire, blood stasis, kidney yang deficiency, heart-spleen paired deficiency, qi-yin paired deficiency, and phlegm-damp. Each of these syndrome etiologies exhibited its own specific distribution patterns. Of the total number of cases studied, 51.52% had 2 or 3 core syndromic etiologies and 36.03% had only one. CONCLUSION: In the early stage of ED, its syndromic etiologies are usually liver constraint with qi stagnation, kidney yin deficiency, damp-heat, liver constraint transforming into liver-fire, and blood stasis. With the natural progres- sion of the disease, its syndromic etiologies gradually evolve into kidney yang deficiency, heart-spleen paired deficiency, qi-yin paired deficiency, phlegm-damp, and blood stasis, and finally into yin-yang deficiency of the heart, spleen and kidneys, combined with phlegm-damp and blood stasis.

[Therapeutic efficacy of Bushengzhuyang Fang (Yangjing Capsule) on phytoestrogen-induced erectile dysfunction: an experimental study].

OBJECTIVE: To investigate the effect of Bushengzhuyang Fang (Yangjing Capsule, YJC) on penile erectile function and its action mechanisms in rats. METHODS: Fifty-six male SD rats were randomly divided into seven groups of equal number: blank control, daidzein, daidzein + testosterone, daidzein + sildenafil, daidzein + low-dose YJC, daidzein + medium-dose YJC, and daidzein + high-dose YJC. The rats in the blank control group were treated intragastrically with normal saline and those in the other groups with daidzein at the dose of 100 mg per kg per day for 30 days. Then the last five groups received additionally testosterone (4 mg per kg per day), sildenafil (2.5 mg per kg per day), low-dose YJC, (0.315 mg per kg per day), medium-dose YJC (0.63 mg per kg per day), and high-dose YJC (1. 26 mg per kg per day), respectively. At 0, 30 and 60 days of treatment, we observed the apomorphine-induced spontaneous erectile response and pathological changes in the corpus cavernosum of the rats, recorded the number of penile erection and erectile incubation period, and determined the serum levels of testosterone (T) and luteinizing hormone (LH). RESULTS: At 30 days of treatment, the number of apomorphine-induced erections was decreased, the erectile incubation period prolonged, and the serum levels of T and LH reduced remarkably in all groups of rats (P < 0.05). Compared with the findings at 30 days, the number of penile erections was significantly decreased at 60 days in the daidzein group (1.39 ± 0.42 vs 2.67 ± 0.33, P < 0.05) and daidzein + low-dose YJC group (1.33 ± 0.49 vs 2.83 ± 0.61, P < 0.05); the erectile incubation period was markedly ex- tended ([16.33 ± 3.11] vs [8.50 ± 0.93] min and [15.50 ± 3.21] vs [8.63 ± 1.54] min, P < 0.05); and the serum levels of T ([5.34 ± 0.89] vs [1.24 ± 0.30] ng/ml and [5.28 ± 1.12] vs [2.07 ± 0.76] ng/ml, P < 0.05) and LH ([3.62 ± 0.37] vs [2.09 ± 0.12] ng/ml and [3.79 ± 0.28] vs [2.17 ± 0.33] ng/ml, P < 0.05) were significantly reduced in the daidzein and daidzein + low-dose YJC groups, respectively. Pathological examination revealed slightly decreased cavernous sinuses and blood vessels in the corpus cavernosum of the rats in the daidzein + testosterone, daidzein + sildenafil, daidzein + medium-dose YJC, and daidzein + high-dose YJC groups as compared with those in the blank control group. CONCLUSION: High-dose Yangjing Capsule is efficacious for the recovery of erectile function in rats, especially for phytoestrogen-induced erectile dysfunction.

[Analysis of four fetuses with de novo chromosomal rearrangments using single nucleotide polymorphism microarray chips].

OBJECTIVE: To assess the value of single nucleotide polymophism (SNP) microarray for delineation of de novo chromosomal rearrangements detected upon prenatal diagnosis. METHODS: SNP microarray analysis was carried out for 4 fetuses with de novo sSMCs or balanced reciprocal translocations. Genomic DNA was extracted from cord blood samples, and amplified, tagged and hybridized following the manufacturer's protocol. Data were collected and analyzed. RESULTS: No pathogenic CNVs were detected in fetus A, whose sSMCs was verified to be heterochromatin. Fetus B, who had a de novo mosaic sSMCs, was found to have a 9 Mb duplication in 4p12-q13 which is associated with speech delay and mental retardation. No pathogenic CNVs were detected in fetus C who has 2 translocation chromosomes inherited from its mother and 2 chromosomes derived from a de novo translocation. Fetus D, who had a de novo "balanced" reciprocal translocation, was found to have a 25 Mb duplication in 1q25 and a 17 Mb deletion in 9p22. Cases A and C had normal physical and mental evaluation after birth. CONCLUSION: For its ability to detect cryptic imbalance in de novo sSMCs or balanced reciprocal translocations, SNP-array has provided a powerful aid to conventional karyotype analysis during prenatal diagnosis.

Association between ubiquitin-specific protease USP26 polymorphism and male infertility in Chinese men.

BACKGROUND: Increased sperm ubiquitin was inversely associated with sperm count and motility. Ubiquitin-specific protease 26 (USP26), which is an X-linked gene, has been studied as a potential infertility gene. There are conflicting reports on whether variations in USP26 are associated with spermatogenesis. METHODS: In order to assess that USP26 polymorphisms contribute to male infertility, we screened 221 infertile men with azoospermia, oligozoospermia, asthenozoospermia, or oligoasthenozoospermia, and 101 control fertile men using DNA sequencing. RESULTS: There were six polymorphisms identified, including an unreported variation (508G>A, G170R). Only the allele frequency of 576G>A was significantly higher in fertile men than infertile patients (p<0.001), although this variant does not result in an amino acid change. The major haplotypes in fertile and infertile men were TGATC (76.2% vs 47.5% of the population, p<0.001) and TGGTC (14.9% vs 39.4%, p<0.001). The haplotype TGATC was under-transmitted, whereas the haplotype TGGTC was over-transmitted in infertile men with asthenozoospermia and oligoasthenozoospermia. CONCLUSIONS: Our results indicated the variation of USP26 was not directly associated with human sperm count but suggested it might be a potential role in sperm motility. The 576G>A synonymous single nucleotide polymorphism (SNP) might have a role in improving the sperm motility.

[AZF microdeletions on the Y chromosome in infertile Chinese men: a five-year retrospective analysis].

OBJECTIVE: The past few years have seen great progress in the studies of the relationship between AZF microdeletions and male infertility. However, some molecular and clinical concerns are not supported by definitive data. The aim of this study was to investigate the prevalence and types of AZF microdeletions in infertile Chinese men, and the indications for genotype-phenotype correlation. METHODS: We retrospectively analyzed Y chromosome AZF microdeletions among 502 patients with nonobstructive azoospermia and 306 with severe oligozoospermia received in our hospital during the past five years. RESULTS: Microdeletions were detected in 7.80% of the patients (63/808), 9.16% in the men with nonobstructive azoospermia (46/502) and 5.56% in those with severe oligozoospermia (17/306). Complete AZFa and AZFb (P5/Proximal P1) deletions were associated with azoospermia, whereas AZFc deletion with variable spermatogenic phenotypes. A mild decline in sperm concentration was found in one male with partial AZFb deletion. The most frequent deletion was the AZFc b2/b4 subtype (60.32%, 38/63), and 39.47% of the cases (15/38) had sperm in the ejaculate. Of the 63 deletions, only one case of the AZFc b2/b4 type had a sperm concentration of over 2 million sperm/ml. CONCLUSION: AZF microdeletions play a significant role in the diagnosis and evaluation of spermatogenic defects. Larger-scale clinical researches on Y chromosome microdeletions may give us a deeper insight into their mechanism and the genotype-phenotype relationship.

[Kidney-tonifying and dampness-expelling Chinese herbal medicine combined with doxazosin for the treatment of chronic epididymitis].

OBJECTIVE: To study the clinical effects of kidney-tonifying and dampness-expelling Chinese herbal medicine combined with doxazosin in the treatment of chronic epididymitis. METHODS: A total of 64 patients with chronic epididymitis were equally randomized into a treatment and a control group, the former treated with kidney-tonifying and dampness-expelling Chinese herbal decoction combined with doxazosin, and the latter given doxazosin only, both for 4 weeks. The clinical symptoms were measured by Chronic Epididymitis Symptom Index (CESI), Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) before and after the treatment, and the therapeutic effects were evaluated. RESULTS: After 4 weeks of medication, the total mean scores on CESI, pain, and quality of life (QOL) were significantly decreased in both the treatment and the control groups (P < 0.05), even more significantly in the former than in the latter (P < 0.05), and so were the scores on SAS and SDS (P < 0.05), but with no significant differences between the two groups (P > 0.05). CONCLUSION: Either doxazosin alone or kidney-tonifying and dampness-expelling Chinese herbal decoction combined with doxazosin is obviously effective on chronic epididymitis, but the combined medication produces an even better efficacy.

A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.

BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a disproportionate short-trunked short stature, dysplasia of the large joints and flattened thoracic and lumber vertebral bodies. The objective of this study is to describe a large Chinese SEDT family with a milder phenotype and describe the molecular and clinical findings. METHODS: Eight affected males of the family were diagnosed with SEDT according to their clinical and radiological features. Direct DNA sequencing of the SEDL gene was performed. RT-PCR experiments on total RNA from blood lymphocytes were performed to confirm the defect on the SEDL gene. A short summary of all currently known SEDL gene mutations is presented. RESULTS: DNA sequencing revealed that all the affected males carried an insertion mutation (c.370-371insA) unreported previously, predicted to result in frameshifts and generate a premature stop codon (p.S124fsX127). The identical mutation was also observed in a 10-year old presymptomatic boy of the family. Eight female carriers had the typical sequencing chromatograms of heterozygotes. CONCLUSIONS: Identification of the novel insertion mutation (c.370-371insA) in this SEDT family enables carrier detection and presymptomatic/prenatal diagnosis, but also the detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in SEDT.

[Qianlie Beixi capsule for unliquefiable semen: a clinical study of 180 cases].

OBJECTIVE: To investigate the efficacy and possible action mechanism of Qianlie Beixi Capsule in the treatment of unliquefiable semen. METHODS: A total of 240 patients with unliquefiable semen were randomly divided into a treatment group (n = 180), treated with Qianlie Beixi Capsule, and a control group (n = 60), given compound tablets of zinc and protein. The treatment lasted two courses of 45 days each, and the seminal changes were observed and recorded. RESULTS: Of the patients in the treatment group, 144 were cured, 12 responded and 24 failed to respond to the medication after the first course; and 158 were cured, 7 responded and 15 failed to after the second course, with the effectiveness rate of 91.67%. Meanwhile, sperm motility was obviously improved, with statistically significant difference from that of the controls (P < 0.01). CONCLUSION: Qianlie Beixi Capsule is effective for unliquefiable semen by improving the function of the prostate and shortening the time of seminal liquefaction.

[Correlation of premature ejaculation with central lumber intervertebral disc herniation].

OBJECTIVE: To investigate the correlation of premature ejaculation (PE) with central lumber intervertebral disc herniation (CLIDH) and the pathogenesis of PE, and to search for a convenient, effective and non-invasive method for the treatment of PE. METHODS: A total of 263 selected PE patients underwent CT, and those that were found with CLIDH were randomized into a treatment group (n=180) and a control (n=60), the former treated by lumbar traction and the latter with sertraline hydrochloride tablets, both for 24 weeks. CIPE-5 scores of all the patients were analyzed, and the ejaculation latency and sexual satisfaction were recorded before and after the treatment. RESULTS: Among the 263 PE patients, CLIDH was confirmed in 240 (91%). After the treatment, CIPE-5 scores, ejaculation latency and sexual satisfaction were markedly improved in the treatment group, with significant statistic difference from pre-treatment (P < 0.01). Significant differences were also observed between the treatment and the control groups after the treatment (P < 0.05), but not in the control group between pre- and post-treatment. CONCLUSION: CLIDH may be one of the important causes of most "unexplainable" PE cases. And lumbar traction, non-invasive, highly effective and easily manipulable, has provided a new access to the diagnosis and treatment of the PE patients with CLIDH.

[Development and status quo of testis transplantation].

A lot of advances have been made in testis autotransplantation, testis homotransplantation, testicular tissue transplantation, Leydig cell transplantation and spermatogonial stem cell transplantation in the past decades. And recent years, have witnessed remarkable progress in Leydig cell transplantation and spermatogonial stem cell transplantation, which promise to be new means for the treatment of male infertility and hypogonadism. The development and present state of testis transplantation are summarized in this paper based on the related literature of recent years.

A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

BACKGROUND: Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare heterogeneous group of inherited disorders characterized by low bone mass and increased bone fragility. The four major clinical criteria for diagnosis of OI are osteoporosis with abnormal fragility of the skeleton, blue sclera, dentinogenesis imperfecta, and premature otosclerosis. The presence of two of these abnormalities confirms the diagnosis. More than 90% patients have autosomal dominant mutations in one of the two genes, COL1A1 and COL1A2, that encode the alpha chains of type I collagen. While the diagnosis of OI is still based on clinical and radiological grounds, there is a growing demand for the molecular characterization of causative mutations. Although there have been several studies on the mutational spectra of COL1A1 and/or COL1A2 in Western populations, very few cases have been reported from Asia. The purpose of this study is to report two patients with OI type I in a Chinese family, who had a novel RNA-splicing mutation in COL1A1 gene and describe the molecular, radiological and clinical findings. METHODS: The proband, (case II-5), a 32-y-old Chinese male, and his 7-y-old daughter were diagnosed as OI type I according to their clinical and radiological features. Genomic DNA was extracted from their blood samples and all promoters, exons and exon/intron boundaries of COL1A1 and COL1A2 genes were sequenced. Polymerase chain reaction sequence-specific primers (PCR-SSP) was used to confirm patients' heterozygous state. RESULTS: Direct DNA sequencing analysis of COL1A1 gene revealed a splicing mutation (c.1875+1G>A, also as IVS 27+1G>A) that converted the 5' end of intron 27 from GT to AT. This mutation was found in both 2 affected individuals but 9 unaffected relatives and the 50 controls were not observed, which was consistent with the clinical diagnosis. This mutation (c.1875+1G>A) appeared to be novel, which is neither reported in literature nor registered in the Database of Collagen Mutations. The heterozygous states of patients' intron 27 were confirmed by PCR-SSP. CONCLUSION: We identify a novel RNA-splicing mutation (c.1875+1G>A) in COL1A1 gene resulting in OI type I in a Chinese family. The detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in OI and exploring the phenotype-genotype correlations in OI.

[Purification and clinical application of egg yolk immunoglobulins].

IgY antibodies, also called egg yolk immunoglobulins, are the only immunoglobulins in egg yolk and transferred in the female from serum to egg yolk to confer passive immunity to embryos and neonates. Using hens instead of mammals as the immunization host brings a number of advantages: Eggs are cheap and readily available; antibody levels in yolks are high; IgY isolation is fast and simple; and what is more; IgY neither binds the rheumatoid factor nor reacts to the mammalian complement factor. All these differences make IgY technology more widely applicable, such as in the production of polyclonal antibodies against various antigens, immunodiagnostics and immunotherapy, and many medical areas in both animals and human. IgY also has a good prospect in human immunocontraception.