Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a severe metabolic disease manifesting as muscle hypotonia, developmental delay, cerebellar ataxia and ocular symptoms; typically, nystagmus and optic disc pallor. Recently, early onset retinal dystrophy has been reported as an additional feature. In this study, we summarize ocular phenotypes and SRD5A3 variants reported to be associated with SRD5A3-CDG. We also describe in detail the ophthalmic findings in a 12-year-old Czech child harbouring a novel homozygous variant, c.436G>A, p.(Glu146Lys) in SRD5A3. The patient was reviewed for congenital nystagmus and bilateral optic neuropathy diagnosed at 13 months of age. Examination by spectral domain optical coherence tomography and fundus autofluorescence imaging showed clear signs of retinal dystrophy not recognized until our investigation. Best corrected visual acuity was decreased to 0.15 and 0.16 in the right and left eye, respectively, with a myopic refractive error of -3.0 dioptre sphere (DS) /-2.5 dioptre cylinder (DC) in the right and -3.0 DS / -3.0 DC in the left eye. The proband also had optic head nerve drusen, which have not been previously observed in this syndrome. and Corresponding author: Petra Lišková
The Afrotropical subgenus Disneyempis Smith of the genus Empis L. is redescribed and redefined on the basis of three synapomorphies, namely labrum lengthened, male eyes more or less broadly separated on frons with all ommatidia of equal size, female abdomen with bluish to purplish metallic reflections on terga 2-5. At present, the subgenus comprises six species: E. (D.) hirsutipennis Smith as type species, E. (D.) jacksoni Smith, E. (D.) argentea sp, n., E. (D.) spinifemorata sp. n., E. (D.) proboprocera sp. n. and one unnamed species E. (D.) sp. 1. All species are described [except E. (D.) sp. 1] and keyed. The subgenus has a tropical African geographical range including Cameroon, Democratic Republic of Congo (formerly Zaire), Republic of Congo and Gabon.
There are five species of musk deer of the genus Moschus, in China, occurring in about 17 provinces. We estimate the total numbers in China to be between 220,000 and 320,000. In some areas the populations are in decline, and some are close to extinction due to over-hunting and habitat loss or degradation, the former being the primary threat to musk deer populations. To conserve musk deer, in situ protection should be improved, and the present unsustainable forest exploitation in the range areas should be halted. Poaching of musk deer, and smuggling of musk deer products, should be prevented. Domestic use of musk should be restricted. In some areas where musk deer have become extinct or are critically endangered, ex situ protection should be introduced. Musk deer farming should be revised and developed according to biological requirements.
The genus Agnippe Chambers, 1872 in the Palaearctic Region is revised. Sixteen species are recognized as valid. Three new synonyms are established: A. conjugella Caradja, 1920 = A. haberlandii Amsel, 1961 syn. n., A. lunaki Rebel, 1941 = A. penicillata Amsel, 1961 syn. n., A. kuznetzovi Lvovsky & Piskunov, 1989 = A. zhengi Li, 1993 syn. n. Four new species are described: A. echinuloides sp. n. (S Ural, Tuva, Transbaikalia, Mongolia), A. turanica sp. n. (Uzbekistan, Kazakhstan), A. deserta sp. n. (Uzbekistan) and A. separatella sp. n. (S Iran). Description of all the species and an identification key are presented, accompanied by illustrations of the adults, and male and female genitalia.
A new diagnosis of Paronychiurus Bagnall, 1948 is given. P. ramosus (Folsom, 1917) and P. eous (Christiansen & Bellinger, 1980) comb. nov. are redescribed on the basis of the types and new specimens. Two new species are described: P. probus sp. n., P. hubbardi sp. n. A key to the species in this genus is presented.
Progrillotia pastinacae Dollfus, 1946 (Cestoda: Trypanorhyncha) is redescribed from the spiral valve of Dasyatis pastinaca (Linnaeus) (Dasyatididae) from the coast of France. Progrillotia dasyatidis sp. n. is described from the spiral valves of Dasyatis tortonesei Capapé (Dasyatididae) from the Mediterranean in the Gulf of Gabès (Tunisia) and D. pastinaca from the Bassin d'Arcachon (France). The new species differs from congeners in having, on the tentacles, a single rather than two rows of intercalary hooks and fewer testes. The generic definition is emended based upon the new species, the redescription of P. pastinacae Dollfus, 1946 and re-examination of the type specimen of P. louiseuzeti Dollfus, 1969. Important additional characters noted are that the tentacular hooks are solid, a prebulbar organ is present and that there are gland cells attached to the retractor muscle within the bulb. A cladistic analysis suggests that the genus is closely allied with the Eutetrarhynchidae. Progrillotia dollfusi Carvajal et Rego, 1983 is provisionally excluded from the genus as the adult of the species is unknown and a key character of the genus is that the testes are pre-ovarian.
The first instar larva, or triungulin, of Stenodera puncticollis (Chevrolat, 1829) is described. Its characters indicate that Stenodera is the most primitive member of the subfamily Nemognathinae and support the recognition of the monotypic tribe Stenoderini, as previously proposed on the basis of adult morphology. The bionomic information on this genus is summarized, and an annotated catalogue and key to the species based on adults are presented
A new diagnosis of Vibronychiurus Pomorski, 1998 is given. V. archivari (Christiansen, 1956) comb. n. and V. hermonicus (Gruia, Poliakov & Broza, 2000) stat. & comb. n. are redescribed on the basis of the types and new specimens. Two new species are described: V. aestimabilis sp. n. from Khakasiya (Russia) and V. caucasicus sp. n. from Caucasus (Russia). A key to the species Vibronychiurus is provided.
The general status of lampreys (family Petromyzontidae) in Bosnia and Herzegovina was reviewed to determine the species composition and geographical distribution of this group in the region. This paper reviews the available literature to provide a critical analysis of the current status of lamprey species. According to the available data, their status can be considered as indeterminate, largely due to limited published records. While eight species are recorded as present in the region (Eudontomyzon danfordi, E. mariae, E. vladykovi, Lampetra fluviatilis, L. planeri, L. soljani, Lethenteron zanandreai, Petromyzon marinus), only three species (E. vladykovi, L. soljani, P. marinus) are confirmed to occur. Their distribution is recorded in waters of both the Danube and the Adriatic Sea catchments. Given the deficiencies in our understanding of the taxonomic status of some populations and knowledge of the geographical distribution of lampreys inhabiting both catchments, research focused on improving understanding of the phylogenetic, morphological and phenotypic traits of lampreys in Bosnia and Herzegovina is warranted to resolve these uncertainties. Problems related to threats and conservation, and future perspectives for protective management strategies are discussed. This paper provides the context for future biodiversity conservation and management with regard to lamprey species in Bosnia and Herzegovina.
The family Rhopalothylacidae (Cestoda: Trypanorhyncha) is reviewed. The type species, Rhopalothylax gymnorhynchoides Guiart, 1935, is redescribed from the type specimens and belongs within the genus Pintneriella Yamaguti, 1934, previously described only from the plerocercus. Rhopalothylax therefore becomes a junior synonym of Pintneriella. The adult of Pintneriella musculicola Yamaguti, 1934 is described for the first time, from the shark Carcharias taurus Rafinesque from Australia. Pintneriella is characterised by two bothridia, a typical heteroacanthous armature, a unique, bipartite external seminal vesicle and a uterus deviated porally, terminating at a uterine pore. It belongs within the Heteracanthoidea but is distinguishable both from the Eutetrarhynchidae and the Gilquiniidae, the two families which it most closely resembles. Cladistic analyses align Pintneriella within the clade containing the families Gilquiniidae, Gymnorhynchidae and Molicolidae rather than with the Eutetrarhynchidae. The family Rhopalothylacidae is therefore retained provisionally to accommodate Pintneriella within the Heteracanthoidea. The second genus of the Rhopalothylacidae, Clujia Guiart, 1935, is unrecognisable from its description and cannot be redescribed from its holotype. It is therefore considered a genus inquirendum.