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1.
J Microsc Ultrastruct ; 9(2): 61-66, 2021.
Article in English | MEDLINE | ID: mdl-34350101

ABSTRACT

BACKGROUND: The portunid crab Charybdis hellerii is an economically critical aquatic species in the Mediterranean region. Several investigators have reported scanning electron microscopy (SEM) observations on some crustacean's eggs' morphology. Going through the previous studies, knowledge regarding the morphology of C. hellerii. vitellogenic oocytes and spawned egg membranes are not available. AIMS AND OBJECTIVES: In the present study, an attempt has been made to describe the morphology and the structure of the membranes of vitellogenic oocytes and the newly spawned eggs to provide necessary information for further studies on the reproductive and evolutionary biology of the crab C. hellerii. MATERIALS AND METHODS: Samples of ripe pinkish orange ovaries of non-ovigarous females and the spawned incubated eggs of ovigerous females with orange and grey spawns were processed for scanning electron microscopy. The prepared samples were examined in a Zeiss DSM 940 scanning electron microscope. RESULTS: The present SEM study revealed that, vitellogenic oocytes are highly packed with yolk inclusions, which appear to be embedded in a definite acellular matrix and surrounded by a distinct chorion, which is pierced by several pores. The follicle cells appear polygonal in shape and interconnected through thin lateral projections and strongly associated with vitellogenic oocytes. The brooded fertilized eggs are attached through a marked stalk (funiculus) and surrounded by three distinct envelopes, which showed specific ornamentations and variations in their surface topography. The outer envelope coarsely wrinkled, while the middle envelope showed finely wrinkled ornamentation, and the inner envelope appeared with its characteristic spongy, porous appearance. CONCLUSIONS: This study denotes a significant difference between mature vitellogenic oocytes inside the ripe ovary and the spawned ova. The differences have been shown in the structure and external ornamentation of their surrounding membranes. Unlike the vitellogenic oocytes, the spawned ova were surrounded by three distinct layers, which are differ in their surface architecture. Such membrane architecture is species specific characteristic and has been thought to be an adaptive feature for brooded fertilized eggs to survive from stressful environmental conditions.

2.
Horm Metab Res ; 53(5): 311-318, 2021 May.
Article in English | MEDLINE | ID: mdl-33862642

ABSTRACT

The contribution of PAX8 genetic variants to congenital hypothyroidism (CH) is not well understood. We aimed to study the genetic variability of exons 3 and 5 of PAX8 gene among a cohort of children with congenital hypothyroidism in correspondence to their clinical aspect. Blood samples were collected from 117 children (63 girls and 54 boys) with CH and enrolled as cases (Group I). All cases underwent biochemical confirmation with low FT4 and high TSH levels and thyroid gland imaging, along with equal number of matched apparently healthy individuals who served as controls (Group II). Genomic materials for exons 3 and 5 of PAX8 gene were extracted, amplified by PCR, detected by electrophoresis, purified, and sequenced by the Sanger technique through the application of ABI 3730x1 DNA Sequencer. Out of 117 cases, eight different effective PAX8 mutations were detected in exon 3 (G23D, V35I, I34T, Q40P, p.R31C, p.R31H, p.R31A, and p.I47T) in 14 patients with their sonographic findings ranged from normal, hypoplastic to thyroid agenesis. Besides the reported mutations, one novel mutation; R31A was detected in 1 euotopic case. Exon 5 analysis revealed no detected mutations elsewhere. In contrast, all healthy control children showed no mutation and normal sonographic findings. Mutations in exon 3 of PAX8 gene, implies its important role in thyroid development and function, as a first estimate of PA8 mutation rate in Egyptian patients with CH having normal and dysgenetic gland. Using ultrasound is mandatory for diagnosis and guiding the treatment of children with CH.


Subject(s)
Congenital Hypothyroidism/genetics , PAX8 Transcription Factor/genetics , Amino Acid Sequence , Child , Child, Preschool , Cohort Studies , Congenital Hypothyroidism/diagnostic imaging , Congenital Hypothyroidism/metabolism , Congenital Hypothyroidism/therapy , Exons , Female , Genetic Variation , Humans , Infant , Male , Mutation , PAX8 Transcription Factor/chemistry , PAX8 Transcription Factor/metabolism , Sequence Alignment , Thyroid Gland/diagnostic imaging , Thyroid Gland/metabolism , Ultrasonography
4.
Pediatr Surg Int ; 36(11): 1387-1393, 2020 Nov.
Article in English | MEDLINE | ID: mdl-32865613

ABSTRACT

Cryptorchidism (CO) is a genital disorder of multifactorial etiology, with serious remote complications. Mutations in insulin-like 3 hormones (INSL3) G/A variant remain a matter of inquiry. We aimed to investigate the association between G178A-INSL3 polymorphism and undescended testis in a cohort of Egyptian children. In this study, a total of 160 children, including 80 cases with primary non-syndromic undescended testes and 80 healthy children with normal external genitalia as controls, both, were analyzed after detailed history, physical examination and imaging for mutations of G178A polymorphism of INSL3 gene by restriction fragment length polymorphism (RFLP) technique. We found most of the undescended testes were inside the inguinal canal mainly on the left side. Genetic analysis revealed that the mutant A allele of G178A INSL3 variant was significantly detected in the patient group with a frequency of 26.2% against 12.5% for control subjects, especially among cases with an evident family history of similar cases as shown by p value = 0.001 and odd's ratio (CI95%) of 0.13 (0.04-0.723). In conclusion, G178A-INSL3 gene polymorphism could be a susceptibility factor for testicular maldescent in Egyptian children. Also, family history of similar cases was considered as significant predictive risk for cryptorchidism, added to the shared genetic links to consanguinity in our locality.


Subject(s)
Cryptorchidism/genetics , Insulin/genetics , Polymorphism, Genetic , Proteins/genetics , Alleles , Child, Preschool , Cohort Studies , Cryptorchidism/epidemiology , Cryptorchidism/metabolism , DNA/genetics , Egypt/epidemiology , Humans , Incidence , Insulin/metabolism , Male , Proteins/metabolism
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