Kniest's syndrome (author's transl)

The clinical picture of the Kniest's syndrome is described. The syndrome is a rare hereditary condition with generalized bone dysplasia, disproportional dwarfism, conduction deafness and severe myopia, retinal detachment, cataract and amaurosis.     

Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.     

Pharmacological evidence for distinct muscarinic receptor subtypes coupled to the inhibition of adenylate cyclase and to the increased generation of inositol phosphates in the guinea pig myometrium

In the guinea pig myometrium, muscarinic receptor activation leads to contraction and elicits two biochemical responses viz. an increased formation of inositol phosphates (via a guanine nucleotide regulatory protein, distinct from the stimulatory and inhibitory G proteins of the adenylate cyclase system and a decreased synthesis of cyclic AMP involving inhibitory G protein activation. We now describe two major differences in the effects of muscarinic agonists. First, the greater potency of carbachol in inhibiting cyclic AMP formation (EC50 = 8 nM) than in stimulating the accumulation of inositol phosphates and tension (EC50 = 15 and 2 microM, respectively). Second, carbachol, oxotremorine and pilocarpine were equally effective in eliciting cyclic AMP inhibition but the order of potency for inositol phosphate formation was carbachol greater than oxotremorine and pilocarpine was without effect. The partial agonists, pilocarpine and oxotremorine, inhibited carbachol-mediated inositol phosphate formation. Pirenzepine, selective for muscarinic M1 receptor subtype, displayed a low affinity for antagonizing cyclic AMP inhibition, inositol phosphate generation and tension due to carbachol (Ki = 286, 92 and 110 nM, respectively). AF-DX116 (11-[( 2-[(diethylamino)methyl]-1- piperidinyl]acetyl)-5,11-dihydro-6H-pyrido[2,3-b][1,4]benzodiazepine- 6-one), selective for cardiac M2 receptors blocked cyclic AMP inhibition with high affinity (Ki = 1.14 nM) while it antagonized inositol phosphate formation with low affinity (Ki = 346 nM). Both high (Ki = 1 nM) and low (Ki = 100 nM) affinities were displayed by AF-DX116 in antagonizing contractions due to carbachol (24 and 76% inhibition, respectively).(ABSTRACT TRUNCATED AT 250 WORDS)     

Evidenzbasierte medikamentöse Therapieansätze der Infertilität

Evidence-based drug therapy for male infertility is often difficult because 30% of all cases of male infertility are classified as idiopathic, and another 30% need surgical treatment. Without knowledge of the underlying pathology, there is no foundation for a specific and causal treatment. Most of the currently used drug therapies are empirical at best; moreover, many of the studies on drug treatment for male infertility do not fulfill the required standards of evidence-based medicine (randomized, prospective, placebo-controlled), and the statistical endpoints used (sperm quality, pregnancy rate, baby take-home rate) are not uniform. This article, which is based on a literature survey and the current guidelines concerning drug therapy for male infertility, covers the most common treatment options. Regarding the currently insufficient scientific data for drug therapy and dietary supplements on male infertility, there is a demand for critical indications that take into consideration the possible side effects and the treatment costs. In the case of insufficient drug therapy for male infertility, reproductive medicine seems to be promising.