Partial Duplication of the Lateral Semicircular Canal—A Novel Anatomical Malformation in a Child with Barakat Syndrome

Several known genetic causes of sensorineural deafness are associated with dysplasia of inner ear structures, including the cochlea and labyrinth. Here, we present a child with Barakat syndrome and sensorineural hearing loss, found to have multiple inner ear anomalies including partial duplication of the posterior limb of the left lateral semicircular canal. To our knowledge, duplication of the semicircular canal has not previously been reported. This finding expands our understanding of the range of anatomical variations observed in congenital inner ear malformations, and further characterizes the phenotypic manifestations of Barakat syndrome.

A Novel Repairable Fountain Codes Scheme Based on Partial Duplication Technique

Distributed storage system (DSS) is an emerging paradigm which provides reliable storage services for various source data. As the fault-tolerance scheme for DSS, erasure codes are required to provide redundancy service with high fault-tolerance and low cost. However, the existing coding scheme cannot provide these requirements well. Thus, it becomes an important yet challenging issue to find a code for storing various source data with high fault-tolerance and low cost. In this paper, a novel construction of repairable fountain codes with unequal locality is proposed by combining with partial duplication tech- nique, namely the PD-ULRFC scheme. We construct a multi-tier heterogeneous storage network, where data core, processing units and storage nodes collaboratively store and transmit data. Moreover, the proposed PD-ULRFC scheme can reduce the repair and download cost by sacrificing a little extra storage occupation. Furthermore, the expressions of the repair cost and download cost are derived to analyze the performance of PD-ULRFC scheme. The simulation results demonstrate that the PD-ULRFC scheme significantly outperforms other redundant schemes in communication cost saving.

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. Case presentation Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The NIPT results revealed a 5.8 Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7 Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy. Conclusion Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.

Diphallia, a rare congenital anomaly- A case and literature review

Diphallia or also called diphallus is a malformation of the male urogenital system characterized by a complete or partial duplication of the penis. The authors report one rare case of a newborn baby transferred from pediatrics for better management of a polymalformative syndrome associating diphallia and anal imperforation are treating in Urology unit at general surgery department, Centre hospitalier universitaire departemental Borgou-Alibori, at Parakou City

Fertility problems in males carrying an inversion of chromosome 10

Chromosomal inversion is closely related to male infertility. Inversion carriers may produce abnormal gametes, which may lead to partial duplication/deletion of the embryonic chromosome and result in spontaneous abortion, a fetus with multiple anomalies, or birth of a malformed child. Genetic counselling remains challenging for these carriers in clinical practice. We report two male carriers with inversion of chromosome 10 and review 26 reported cases. In the first case, 46,XX,inv(10)(p13q22) of the fetal chromosome was found in prenatal diagnosis; this was inherited from the paternal side with 46XY,inv(10)(p13q22). Another case was a male carrier with inv(10)(q21.2q22.1). There have been 25 (89.3%) cases of pericentric inversion and three (10.7%) cases of paracentric inversion involving chromosome 10. Of 28 cases, nine were associated with pregestational infertility of the couples, while the other 19 cases were associated with gestational infertility of the couples or normozoospermia. The breakpoints at 10p15, 10p11, 10q11, and 10q21 were associated with pregestational infertility of the couples. The breakpoints at 10p15, 10p14, 10p13, 10p12, 10p11, 10q11, 10q21, 10q22, 10q23, 10q24, 10q25, and 10q26 were related to gestational infertility of the couples or normozoospermia. Although there is a high risk of infertility or recurrent miscarriages, carriers with inversion of chromosome 10 might produce healthy offspring. Natural pregnancy can be used as a choice for inversion carriers with recurrent spontaneous abortion.

Double Vision in Architecture

The architecture and its outputs are one of the most relevant fields of knowledge with human beings and their daily life, and the fact that the architectural product represents the architectural vision that which is trying to deliver to the society through the architectural images of various projects, which should be perceived by the eye and trying to interpret them, so the research aims to study the vision generated by the recipient, whether the vision of the designer himself when he sees his work as an architect, another designer acting as a critic, or those who are outside of architecture field, and how that vision that the designer wants to deliver can be transformed from single vision to a double vision about the architectural product. The problem of research was the lack of clear knowledge about the role of different intellectual visions of architectural schools in the compatibility and differing visions between the designer and the other designer or the designer and the recipient to produce a double vision in architecture. The research deals with the concept of vision in general in order to extraction a set of concepts that link the vision with the architecture, whether single or double, which can be reflected by the following elements: (the concept intended by the designer – the form and its treatments - the architectural reading). In other words, it starts with the designer vision or concept and depends on what he wants to deliver, and this leads the research to study the sources of ideas and architectural images which reflect the vision of the designer, which depends mainly on architectural schools and their role in the formulation of the designer thought, and then this will be applied to elected architectural projects belonging to different schools to reach that there is a strong duplication of vision between the other designer and the product versus a partial duplication of vision between the designer and the product and between the recipient and the product

A case of diprosopus: a rare form of twinning radiology-pathology correlation

ObjectivesDiprosopus is a rare subtype of conjoined twinning, with approximately 30 reported cases in English literature. Due to the rarity of conjoined twins, the mechanism leading to this developmental anomaly is not yet understood.Case presentationWe present a case of diprosopus with multimodality imaging (prenatal and postnatal), and with pathological correlations. Developmental anomalies include partial duplication of frontal lobes, formation of a midline “third” frontal lobe, as well as orofacial and cardiac anomalies. The constellation of anomalies coincide with development during embryonic days 23–26, where the anterior prosencephalon, prechordal plate/oropharyngeal membrane, and cardiogenic plate are in very close proximity to each other.ConclusionsThis case offers an opportunity to better appreciate the radiologic and pathologic manifestations of diprosopus, and adds to the current body of evidence.