Clinical experience with hepatorenal tyrosinemia from a single Egyptian center.

Although very recently, in Egypt, sick newborn screening has included screening for hepatorenal tyrosinemia, yet, it is not yet included in nationwide neonatal screening and hence diagnosis may be delayed. The aim of this study was to analyze data of all cases presenting with hepatorenal tyrosinemia to the Pediatric Hepatology Unit, Cairo University, Egypt from 2006 to 2019. Data were retrieved from patients' files including age of onset of symptoms, clinical signs, blood counts, liver functions, serum phosphorous, alpha-fetoprotein, succinylacetone and abdominal ultrasound. During this period, 76 patients were diagnosed with hepatorenal tyrosinemia if succinylacetone in dry blood spot was elevated above 1 µmol/L. These 76 cases came from 70 families; consanguinity was reported in 61 families. In our cohort we reported 30 affected siblings with a similar clinical presentation, who died undiagnosed. Presentation was acute in 26%, subacute in 30% and chronic in 43%. Abdominal distention was the commonest presenting symptom (52.6%). Coagulopathy was the commonest derangement in liver functions; hyperbilirubinemia and raised transaminases were less common. Ultrasound findings included hepatic focal lesions in 47% and enlarged echogenic kidneys in 39% and 45.3% respectively. Only 20 children were treated with Nitisinone because of unavailability and high costs; seven out of them underwent liver transplantation. In conclusion, although hepatorenal tyrosinemia is a rare inborn error of metabolism, in a large population country with high rate of consanguinity; this disease is not uncommonly diagnosed. The current treatment is not readily available because of the costs in a resource-limited country. Neonatal screening and subsidization of the costly medication need to be considered.

Pharyngodon mamillatus (Nematoda: Pharyngodonidae) in the ocellated skink Chalcides ocellatus (Squamata: Scincidae) from Egypt: Light and scanning electron microscopic studies.

Twenty-one Pharyngodon mamillatus were recovered from the large intestine of 4 out of 12 ocellated skink Chalcides ocellatus collected from the South Sinai desert, Egypt. The prevalence of infection was 33.33% (intensity 2-4). The recovered pharyngodonid was re-described based on light and scanning electron microscopy. According to the morphology, it was characterized by regular transverse annulations extending from the posterior margin of the lips to the level of the anus, triangular mouth opening was surrounded by three large bilobed lips possessing three papillae, oval-shaped excretory pore, slit-like vulva opening, and slit-like anal ventral opening at the posterior end which terminates with a tail filament. Here, the morphometric measurements of adult female P. mamillatus were given in this study. It has no intraspecific morphological variations from the previously described P. mamillatus, but it appeared with small range on biometric features. These variations may be accounted by host/environment attributes since they exhibit wide host and geographical spectra. The present study was applied for detailed morphological knowledge of the recovered P. mamillatus for strengthening their taxonomic validity. HIGHLIGHTS: The Pharyngodon mamillatus naturally parasite of the intestinal region of Chalcides ocellatus. The present study clarifies the morphological key for the description of P. mamillatus.

Morphological description and phylogenetic assessment of 28S rRNA for Thelandros chalcidiae sp. nov. from Chalcides ocellatus.

Thelandros is a genus of oxyurid nematodes which parasitize both omnivorous and herbivorous hosts. Thelandros chalcidiae sp. nov. is a new taxa described from the large intestine of the ocellated skink, Chalcides ocellatus, from the South Sinai Desert in Egypt. The recovered parasite species was examined at both morphological and molecular levels in order to determine the exact taxonomic position within Pharyngodonidae family. The current pharyngodonid species is characterized by a mouth opening bounded by three bilobed lips; male worms are characterized by the presence of two pairs of cloacal papillae (pre- and adcloacal) and one single caudal papillae (postcloacal) and caudal alae in an auricular form and females with post-equatorial vulva, amphidelphic ovary in which anterior ovary extended to level of excretory pore and posterior ovary extended posteriorly up anal opening. The recovered nematodes were compared with other known species from different hosts and it was found to be morphologically different from them. Molecular characterization based on the partial 28S rRNA nuclear ribosomal gene sequence showed sequence identities ≥ 83.15% with taxa under family Pharyngodonidae, 74.84-87.37% with Oxyuridae, 80.54% with Heteroxynematidae, and 75.98-77.72% with Thelastomatidea. Phylogenetic analysis showed that parasite sequence in conjunction with existing data facilitate placement of this species within Oxyurida. The present species is deeply embedded in genus Thelandros with close relationships to previously described Thelandros sp. and T. galloti in same taxon. This study highlighted importance of combining morphological and genetic data with taxonomy in pharyngodonid species.

Morphological redescription and phylogenetic assessment of Spauligodon aspiculus (Oxyuroidea: Pharyngodonidae) infecting the white-spotted gecko, Tarentola annularis (Squamata: Gekkonidae).

Thirty white-spotted geckos, Tarentola annularis, from the South Sinai desert in Egypt, were examined for helminth parasites. Spauligodon aspiculus was observed to infect 19 geckos with 63.33% as a prevalence of parasitic infection. The present nematode species is separated from congeners by morphological and metrical characteristics such as lateral alae, aspinose filamentous tail, and no spicule, and three pairs of caudal papillae with posterior pair excluded from envelopment by the caudal alae in the male worms, and knobbed eggs, and postbulbar vulva in females. It compared morphometrically with other Spauligodon species described previously and showed few differences in measurements. Molecular characterization based on the partial 28S rRNA nuclear ribosomal gene sequence showed that there was a close identity, up to 72%, with other sequences retrieved from GenBank. Phylogenetic analysis showed that the parasite sequence in conjunction with existing data facilitates the investigation of the placement of this pharyngodonid species within Oxyuridae. The present species is deeply embedded in the genus Spauligodon with close relationships to previously described Spauligodon nicolauensis (gb| JN619349.1, and JF829243.1) as more related sister taxa. This study highlights the importance of combining genetic and morphological data with taxonomy in pharyngodonid species.