Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Infertility in men and women with spermagglutinins is the result of disturbed penetration and migration of spermatozoa in the cervical mucus. In ejaculates with partial spermagglutination caused by autoimmunization, the progressive propulsion of the sperm was changed into stationary, shaking movement the moment the sperm came into contact with cervical mucus. The same alteration in spermatozoal motility pattern also occurred when spermatozoa from a normal, fertile ejaculate came into contact with cervical mucus of a woman whose serum contained sperm antibodies. This shaking phenomenon was visualized in a simple test, the sperm-cervical mucus contact test. We demonstrated that sensitized spermatozoa exhibit the shaking phenomenon after contact with the glycoprotein fraction of the cervical mucus and not after contact with the aqueous fraction. Therefore, the hypothesis is introduced that the shaking phenomenon is due to an interaction between sensitized spermatozoa and the glycoprotein micelles in cervical mucus.
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PMID:The sperm-cervical mucus contact test: a preliminary report. 125 29

Seventeen couples (13%) were selected from a group of 129 infertile patients according to the following criteria: (i) unexplained infertility for 3 years and (ii) greater than 50% shaking spermatozoa during SCMC testing. The couples were tested for sperm antibodies after a complete diagnostic work-up schedule. Post-coital tests were performed during the first menstrual cycle of the wife, followed by SCMC and sperm antibody titre testing. Ten males and seven females were thus treated with 96 mg methylprednisolone. Nine (52%) of the 17 with sperm antibodies achieved a pregnancy. The results of the SCMC test were in all the cases indicative of the actual sperm antibody titre. Reduction of the antibody titre and a decrease in the percentage of shaking spermatozoa as detected by the SCMC test correlated well with the pregnancy rate amongst the patients.
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PMID:The SCMC test: a reliable monitor for antispermatozoal antibodies. 317 Jul

Some immunological aspects of male infertility are discussed, including the mechanism of induction of auto-antibodies to sperm-specific antigens. Tests to determine antispermatozoal antibodies in serum are discussed. Since there is no direct relation with infertility, more attention is focused on the presence of antispermatozoal antibodies in semen. These antibodies affect male fertility by reducing the capacity of the spermatozoa to penetrate cervical mucus. This penetration inhibition is caused by autoagglutination of the spermatozoa in the ejaculate and by the shaking phenomenon. The sperm-cervical mucus contact test, based on the shaking phenomenon is described. The use of the Mixed Antiglobulin Reaction tests, to detect IgG and IgA antibodies on spermatozoa is discussed. Finally, the effect of antispermatozoal antibodies on the fertilization process is reviewed.
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PMID:Immunological aspects of male infertility. 331 Jul 56

Thirteen couples with a history of primary infertility for at least 3 years were selected according to the following criteria: a positive sperm/cervical mucus contact (SCMC) test, the presence of sperm-agglutinating antibodies in the cervical mucus, and/or seminal fluid of one of the partners. Nine of the males and 4 of the 13 females were accordingly treated with high dosages of corticosteroids for 6 months. Among 4 (44%) males and 2 (50%) females a pregnancy ensued. Four (80%) of the 6 patients in whom a pregnancy was reported showed not only a decline in their sperm antibody titer but also a decrease in the percent shaking spermatozoa during SCMC testing.
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PMID:Sperm/cervical mucus contact test for sperm antibodies. 382 86

Serum antisperm antibodies were analyzed for 698 human couples with primary or secondary infertility to evaluate the incidence of antisperm antibodies in the circulation of men and women and in the cervical mucus of women as well as to evaluate the association of these antibodies with sperm penetration of cervical mucus in vitro and the relationship of these factors with subsequent fertility. Questionnaires concerning fertility status were mailed to 520 couples that had been analyzed for sperm antibodies from 1-3 years earlier. Completed questionnaires were obtained from 402 couples, and 376 of these couples were suitable for inclusion in the study. The mean duration of infertility was 4.1 +or- 2.5 years, with a range of 1-15 years for all couples; for 31 couples with secondary infertility, the duration was 3.4 +or- 1.9 years, with a range of 1.5-5.5 years. 14.8% of the men 19.6% of the women had sperm-agglutinating antibodies. An examination of the type of agglutination indicated that 88% of the positive sera showed the tail-to-tail type and the remainder showed the head-to-head type. The overall incidences of immobilizing antibody were 5.6 for men and 6.4% for women. The incidence of immobilizing antibody increased significantly in both men and women with increasing agglutination titers, as reflected by the respective correlations of 0.50 and 0.34 between the 2 tests. The incidence of pregnancy was influenced significantly by the presence of circulating sperm-agglutinating and immobilizing antibodies in both sexes. Sperm-immobilizing activity was detected in 29.6% of the cervical mucus samples from 459 women. The frequency of immobilizing antibody activity was significantly greater in samples from women with positive serum samples by either the TAT or the SIT. Sperm penetration of cervical mucus was significantly affected by the presence of either type of serum antisperm antibody in men and by sperm agglutinins in women. The incidence of subsequent pregnancy among the couples was significantly associated with each of the techniques utilized to assess antisperm antibodies. The sperm shaking phenomenon showed a significant effect that was most dramatic in those couples with more than 75% of the motile sperm exhibiting shaking in which only 1 of 13 experienced a diagnosed pregnancy. Significant but low correlation coefficients were found for the occurrence of pregnancy with the results of the serum and cervical mucus techniques. Multiple partial correlation analyses of the variables with pregnancy occurrence revealed that of the serum tests, agglutinating titers had significantly greater coefficients for men and women.
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PMID:The incidence and influence of antisperm antibodies in infertile human couples on sperm-cervical mucus interactions and subsequent fertility. 711 71

X-chromosomal recessive bulbospinal neuronopathy (X-BNS, Kennedy's disease) is an important differential diagnosis of amyotrophic lateral sclerosis. We present the data of ten own patients along with a review of the literature on this uncommon disease which is caused by an expanded CAG-repeat in the androgen receptor gene. This mutation probably affects the transcription regulating activity of the androgen receptor in neurons. Signs and symptoms of X-BSN can be derived from partial insensitivity for androgens and a mixed, mainly motor neuronopathy. The clinical diagnosis is based on: 1. lower motor neuron weakness of bulbar and proximal limb muscles with onset in the third to fifth decade, 2. cramps and pronounced fasciculations, particularly of facial muscles, 3. postural tremor, 4. diminished or absent sensory action potentials inspite of only minor sensory impairment, 5. gynecomastia, and 6. infertility, diabetes mellitus and hyperlipoproteinemia in a minority of cases. Unlike amyotrophic lateral sclerosis, disease progression is slow with barely shortened life expectancy, which should be stressed in patient counselling. Causal treatment is as yet unavailable but several aspects of palliative medicine should be considered.
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PMID:[X chromosomal bulbospinal neuropathy (X-BSN, Kennedy syndrome): an illness with repetitive triplet sequences. Case report, differential diagnosis and molecular genetics aspects]. 908 89

The FXTAS syndrome (Fragile X-associated tremor/ataxia syndrome) is a specific neurodegenerative syndrome affecting subjects carrying a premutation of the FMR1 (fragile X mental retardation 1) gene. It affects mainly men with the premutation and aged more than 50 years. This syndrome is separate and distinct from the fragile X syndrome. The FXTAS syndrome remains underestimated today. It should be considered in patients older than 50 years with tremors and cerebellar ataxia, especially when Parkinson disease or cognitive disorders are present or when there is a family history of infertility, early menopause, or mental retardation. In these patients, hyperintense signals of mid-cerebellar peduncle images on T2 and FLAIR MRI justify genetic testing for the FMR1 premutation.
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PMID:[Tremor/ataxia syndrome related to Fragile X premutation]. 1941 33

Polycystic ovary syndrome (PCOS) and Graves' disease are the common causes of menstrual irregularity leading to infertility in women of child-bearing age. A 21-year-old female patient visited us with complaints of oligomenorrhea and hand tremor. She was diagnosed as having PCOS and hyperthyroid Graves' disease, simultaneously. She had low body weight (BMI: 16.4 kg/m(2)), mild hirsutism, and thyrotoxicosis. The patient was treated with anti-thyroid drug and beta-blocker for about two years, and then recovered to normal thyroid function. Although some studies have suggested a connection between PCOS and autoimmune thyroiditis, no study indicated that PCOS is associated with Graves' disease until now. Here, we describe the first case report of a lean woman with normal insulin sensitivity presenting PCOS and Graves' disease simultaneously.
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PMID:A 27-year-old woman diagnosed as polycystic ovary syndrome associated with Graves' disease. 2196 38

48, XXYY syndrome is a form of sex chromosome aneuploidy that affects between 1 in 18 000 to 1 in 40 000 males. It is not inherited and is diagnosed by karyotyping. It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males. However, patients with 48, XXYY syndrome also commonly have dental problems, tremor, attention deficit disorder, learning difficulties, allergies and asthma. The tremor is typically reported as an intention tremor (in 71% of patients XXYY aged >20 years with 48), which becomes more common with age and worsens over time.
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PMID:48, XXYY syndrome associated tremor. 2348 7

The tremor rat is an autosomal recessive mutant exhibiting sterility with gonadal hypoplasia in both sexes. The causative mutation tremor (tm) is known as a genomic deletion spanning >200 kb in Chr 10q24. Spermatogenesis associated 22 (Spata22) has been shown to be a vertebrate-specific gene essential for the progression of meiosis through prophase I and completion of chromosome synapsis and meiotic recombination using a mouse repro42 mutant carrying an N-ethyl-N-nitrosourea (ENU)-induced nonsense mutation in Spata22. In this study, we show that Spata22 was identified as the gene responsible for the failure of gametogenesis to progress beyond meiosis I in tm homozygous rats by a transgenic rescue experiment. Meiosis was arrested during prophase I in the mutant testis. Precise mapping of the breakage point revealed that the deleted genomic region spanned approximately 240 kb and comprised at least 13 genes, including Spata22. Rat Spata22 was predominantly expressed in the testis, and its transcription increased with the first wave of spermatogenesis, as seen in the mouse ortholog. These results suggest that Spata22 may play an important role in meiotic prophase I in rats, as seen in mice, and that the tm homozygous rat may be useful for investigating the physiological function of Spata22, as an experimental system for clarifying the effect of a null mutation, and may be an animal model for studying the pathogenesis and treatment of infertility caused by impaired meiosis.
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PMID:Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22. 2390 57


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