Radio Times now searchable By John Clark on April 26th, 2015 Posted in A SPACE FOR NOSTALGIA, Links to Media, Links to Showbiz sites. The BBC’s Radio Times, published from 1929 to the present, has been digitized as a. Get the most out of AddThis with our library of resources to help you grow your website, increase engagement, and build your online community. Genital Duct Anomalies . Two groups of individuals fulfill these characteristics: those with absence of most of the vagina and all or almost all of the uterus (m. The two conditions are embryologically and anatomically distinct (Fig. Of individuals with an absent vagina, 8. Birth Defects: Original Article Series 1. In vaginal atresia the urogenital sinus fails to contribute the caudal portion of the vagina. The lower fifth to third of the vagina is replaced by 2–3 cm of fibrous tissue, above which lie a well- differentiated upper vagina, cervix, uterine corpus, and fallopian tubes (Fig. Ultrasound, magnetic resonance imaging, or rectal examination may verify presence of m. Hydrometrocolpos can develop. Familial aggregates of isolated vaginal atresia are rare if not nonexistent. However, vaginal atresia is often reported as part of a large series of patients with absence of vagina. Analysis of a heterogeneous sample of patients might obscure findings that would be evident if the two disorders were analyzed separately. Vaginal atresia in multiple malformation syndromes. Etiologically distinct from vaginal atresia in otherwise normal women is vaginal atresia present as one component of a multiple malformation complex. Table 1 summarizes several syndromes. Winter and co- workers described four siblings with a previously unrecognized autosomal recessive syndrome characterized by vaginal atresia, renal hypoplasia or agenesis, and middle ear anomalies (malformed incus, fixation of the malleus and incus). A second malformation syndrome in which vaginal atresia occurs is the Fraser syndrome, characterized by vaginal atresia and by cryptophthalmus with its resultant blindness. Other syndromes include Antley- Bixler and Bardet- Biedl (Table 1). Table 1. Multiple malformation syndromes associated with vaginal atresia. Syndrome. Somatic anomalies. Etiology. Antley- Bixler Craniosynostosis, choanal atresia, humeroradial synostosis, gracile ribs, bowed femora, camptodactyly, renal anomalies. Autosomal recessive Bardet- Biedl Degeneration of retinal pigment (retinitis pigmentosa), polydactyly, obesity, mental retardation. Autosomal recessive. Fraser Cryptophthalmia, nose and ear anomalies, stenotic larynx, skeletal defects, syndactyly, renal agenesis, large clitoris and labia majora, mental retardation. Autosomal recessive Winter. Lacrimal duct stenosis, external and middle ear anomalies, renal agenesis. Autosomal recessive. Transverse vaginal septa and Mc. Kusick- Kaufman syndrome Transverse vaginal septa occur at several locations and may be complete or incomplete. These septa are usually about 2 cm thick and located near the junction of the upper third and lower two- thirds of the vagina; 1, 2, 1. Fig. Perforations are usually central but may be eccentric in location. If no perforation exists, mucus and menstrual fluid cannot egress; hydrocolpos or hydrometrocolpos may develop. Other pelvic organs are usually normal, although occasionally the uterus is bicornuate. Potential sites of transverse vaginal septa. In Stevenson RE, Hall JG, Goodman RM . New York: Oxford University Press, 1. Vaginal septa presumably result from failure of urogenital sinus derivatives and the m. This explanation is deduced from the location of the septa, which is usually at the predicted sites of urogenital sinus m. The cranial surfaces of septa are usually lined by columnar (m. The eponym Mc. Kusick- Kaufman syndrome is applied to such subjects. The latter cases indicate a pleiotropic mutant, a suggestion to which Pinsky subscribes. Alternatively, presence of multiple abnormalities may indicate a different mutant gene. Familial aggregates are rarely observed in non- Amish kindreds; it is difficult to distinguish between these possibilities. In support of the thesis of a single pleiotropic gene is the analysis of 5. Chitayat and colleagues. Hydrometrocolpos was estimated to be present in 9. Amish cases, polydactyly in 9. Amish individuals may show all three anomalies, various pairwise combinations of two, or only one. Stone and colleagues estimated penetrance to be 7. Given these probabilities, 9% of males and 3% of females could be expected to have the gene in completely nonpenetrant state. The MKS locus is on 2. There are six exons and an open reading frame of 5. The protein is a chaperonin, representative of the class of proteins that facilitate protein folding in conjunction with adenosine triphosphate hydrolysis. Old Order Amish show two unusual chaperonin sequences (H8. Y and A2. 42. S). Each variant is found in 1 per 1. Amish controls. H8. Y/A2. 42. S compound heterozygosity segregates with the disorder. The 1% frequency of these variants in the general Amish population is consistent with a MKS heterozygote frequency of that magnitude. Compound heterozygotes are not necessarily clinically abnormal, meaning the heterozygote frequency of these variants is higher than 1% albeit to an unknown extent. Vaginal longitudinal septa. Vaginal septa may be longitudinal (sagittal or coronal) (Fig. Longitudinal septa, which rarely produce clinical problems, probably result from abnormal mesodermal proliferation or persisting epithelium. Occasionally, these septa impede the second stage of labor. Heritable tendencies are not obvious, although no systematic studies have been reported. Longitudinal vaginal septum. In Stevenson RE, Hall JG, Goodman RM . New York: Oxford University Press, 1. Edwards and Gale reported an autosomal dominant syndrome characterized by longitudinal vaginal septum, hand anomalies, and urinary incontinence possibly because of a bladder neck anomaly. Longitudinal vaginal septa also occurs in the Johanson- Blizzard syndrome, which is probably an autosomal recessive disorder. Table 2). Table 2. Syndromes associated with longitudinal vaginal septa. Syndrome. Somatic anomalies. Etiology. Edwards- Gale (camptobrachydactyly)2. Flexion contractures of distal interphalangeal joints, brachydactyly, polydactyly, syndactyly, urinary incontinence. Autosomal dominant. Johanson- Blizzard. Scalp defects, deafness, hypoplastic alae nasi, microdontia, primary hypothyroidism, malabsorption, mental retardation, hypotonia, short stature. Autosomal recessive Absence or atresia of the uterine cervix. Isolated absence or hypoplasia of the cervix associated with a normal uterine corpus and a normal vagina is rare. Relatively few cases have been described, and there have been no reports of multiple affected family members. The disorder presumably results from failure of m. Hydrometrocolpos should be anticipated. The cervical canal may also be absent in true hermaphrodites. In 1. 99. 7, Fujimoto and colleagues reported seven new cases and reviewed the 5. They concluded that one half of all cases with cervical absence or atresia had normal vaginas; one half had complete or partial vaginal atresia (Fig. Surgically created uterovaginal canalization led to menstruation in 6. After surgical correction, pregnancies have occurred only exceptionally. Fig. Isolated congenital cervical atresia with normal vaginal development. Congenital cervical atresia with complete vaginal agenesis. Am J Obstet Gynecol 1. M. The foreshortened 1–2 cm vagina is presumably derived exclusively from invagination of the urogenital sinus. Secondary sexual development is normal, but no uterine structures are palpable. Uterine remnants may exist in the form of bilateral cords. The term Rokitansky- K. Androgen insensitivity can be excluded on the basis of chromosomal studies and gonadal composition. Pubertal patients with m. Skeletal anomalies, especially vertebral anomalies, are not uncommon. Excretory urography and vertebral roentgenograms are obligatory in the clinical evaluation of m. Urologic anomalies in m. None of the three individuals with uterine remnants had an affected relative, but 1. Two of these 1. 0 had affected siblings, whereas the other eight had other affected paternal relatives (i. Such observations suggest sex- limited (female) autosomal dominant inheritance, although other genetic mechanisms cannot be excluded. Females with the postulated mutant would manifest m. Lack of confirmatory reports over the subsequent 3. Shokeir. 39 unclear. In contrast, Carson et al. US families in which not a single relative was affected. Absence of affected relatives among 3. However, absence of affected siblings and lack of paternal consanguinity speaks against autosomal recessive inheritance. Van Lingen et al. Women with m. Given this, a therapeutic strategy is to obtain oocytes from affected women, perform fertilization in vitro with their husband's sperm, and transfer fertilized embryos to the surrogate uterus of another woman in hormonal synchrony. The resulting offspring would genetically reflect the affected woman. Petrozza and colleagues. US assisted reproductive technology (ART) programs to accumulate 3. Of the 3. 4 offspring, 1. These data are most consistent with polygenic/multifactorial inheritance, the usual mode of inheritance for malformations affecting a single organ system or embryologically related systems. Polygenic/multifactorial inheritance could explain the occasional reports of multiple affected siblings. After the birth of one child with a polygenic/multifactorial disorder, the recurrence risk for first- degree relatives of affected probands approximates the square root of the incidence of the trait in the population. A theoretical recurrence risk could be calculated if accurate incidence data existed. A dominant or recessive gene could explain a minority of cases, perhaps only in certain populations; nongenetic factors or polygenic/multifactorial inheritance could explain the remainder. Little progress has been reported in the molecular elucidation of m. Using denatured gradient gel electrophoresis (DGGE), various studies in the 1. However, these studies could exclude only large deletions. Studying WT1. 43 and PAX2. This also held for AMH and AMHR. The N3. 14 allele of GALT4. Perturbations of HOXA1. HOXA1. 3 mutations have not been found in isolated m.
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