In an attempt to understand the nature of the mutational event leading to the fra(X) syndrome, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. In all 3 populations there was a dearth of isolated cases, and the reasons for this are discussed.

Female↗

PubMedDate not supplied

Fragile Xq27 in somatic cells derived from different tissues.

Prenatal diagnosis for the Martin-Bell syndrome resulted in the detection of 4 fragile X-positive male fetuses and 2 female fetuses. Studies carried out on monolayer cultures derived from various tissues from these show that fra-Xq27 can be ascertained in cells from testis, lung, kidney, skin, ovary, and muscle. This suggests that the fragility of the X chromosome may be present in all somatic cells. There appears to be no strong correlation between the level of marker detected and the involvement of the tissue from which the cells were derived in the manifestation of the syndrome. The level of fra-X is dependent rather more on culture conditions than on cell type except for lymphocytes, in which detection is easier.

Cells, Cultured↗

PubMedDate not supplied

Prenatal diagnosis of X-linked mental retardation with fragile (X) using fetoscopy and fetal blood sampling.

Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X-linked mental retardation with fragile(X) at Xq27-28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chromosome while nine other fetal blood samples from pregnancies at risk for other X-linked diseases, or haemoglobinopathies did not show fragile sites at Xq27-28, and a blood sample from an abortus showed only 1 fragile site in 95 mitoses. Both pregnancies were terminated, cultures established from fetal tissues, and the diagnosis confirmed in each case. The problems of demonstrating the fragile site in tissues other than fetal blood in these pregnancies (such as amniotic fluid cells or fibroblasts from fetal tissues) are discussed.

Adult↗

PubMedDate not supplied

Prenatal diagnosis of Martin-Bell syndrome associated with fragile site at Xq27-28.

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Adult↗

PubMedDate not supplied

Phosphodiesterase 11 (PDE11) regulation of spermatozoa physiology.

Fertilization is well correlated with sperm concentration, rate of forward motility, and percentage of live, uncapacitated ejaculated spermatozoa, which is regulated in part by cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP). Phosphodiesterases (PDEs) hydrolyze cyclic nucleotides to their corresponding monophosphates, thereby counterbalancing the activities of cAMP and cGMP, and PDE11 is highly expressed in the testis, prostate, and developing spermatozoa. However, a physiological role of PDE11 is not known. We generated PDE11 knockout (PDE11-/-) mice to investigate the role of PDE11 in spermatozoa physiology. Ejaculated sperm from PDE11-/- mice displayed reduced sperm concentration, rate of forward progression, and percentage of live spermatozoa. Pre-ejaculated sperm from PDE11-/- mice displayed increased premature/spontaneous capacitance. These data are consistent with human data and suggest a role for PDE11 in spermatogenesis and fertilization potential. This is the first phenotype described for the PDE11-/- mouse and the first report of a physiological role for PDE11.

3',5'-Cyclic-GMP Phosphodiesterases↗

PubMedDate not supplied

Treatment of canine nasal aspergillosis with enilconazole.

Twenty-four dogs with nasal aspergillosis were treated with enilconazole (10 mg/kg bid for 7-14 days) administered topically through tubes surgically implanted into the nasal chambers. Aspergillosis was eliminated in 19 dogs over a median follow-up period of 18 months. Another dog died, but at necropsy there was no evidence of causative fungus. Two of the four dogs that were not cured had infection of periorbital soft tissues. An additional seven dogs received 6 weeks ketoconazole (5 mg/kg bid PO) and enilconazole therapy topically. Six of these dogs were disease-free over a median follow-up period of 35 months. The seventh dog responded to repeated treatment with enilconazole. Twenty-six of the 29 dogs (90%) without extranasal aspergillosis were cured.

Administration, Intranasal↗