Common Background Research Articles

Variability in Functional Traits along an Environmental Gradient in the South African Resurrection Plant Myrothamnus flabellifolia.

Many desiccation-tolerant plants are widely distributed and exposed to substantial environmental variation across their native range. These environmental differences generate site-specific selective pressures that could drive natural variation in desiccation tolerance across populations. If identified, such natural variation can be used to target tolerance-enhancing characteristics and identify trait associations within a common genetic background. Here, we tested for natural variation in desiccation tolerance across wild populations of the South African resurrection plant Myrothamnus flabellifolia. We surveyed a suite of functional traits related to desiccation tolerance, leaf economics, and reproductive allocation in M. flabellifolia to test for trait associations and tradeoffs. Despite considerable environmental variation across the study area, M. flabellifolia plants were extremely desiccation tolerant at all sites, suggesting that tolerance is either maintained by selection or fixed in these populations. However, we detected notable associations between environmental variation, population characteristics, and fitness traits. Relative to mesic sites, plants in xeric sites were more abundant and larger, but were slower growing and less reproductive. The negative association between growth and reproduction with plant size and abundance pointed towards a potential growth–abundance tradeoff. The finding that M. flabellifolia is more common in xeric sites despite reductions in growth rate and reproduction suggests that these plants thrive in extreme aridity.

Particle-dependent reproduction and exogenic biopolymer secretion of protozoa co-cultured rotifers

The rotifer-specific exogenic biopolymer, named Rotimer and its related molecular processes are affected by physical and chemical factors (e.g., temperature, pH or metal ions); however, the study of biological influences (e.g., the presence protozoa) concerning the particle-dependent reproduction (egg laying) and ‘biopolymer producing capacity’ (BPC) of rotifers is the objective of the present work. Non-planktonic rotifer species (Philodina acuticornis, Adineta vaga, Euchlanis dilatata, and Lecane bulla) were studied in paired micrometazoa-protozoa co-cultures involving Paramecium, Diplonema, and Amoeba. These protozoa can be beneficial food sources, enhancing reproduction, or even toxic factors for the above-mentioned animals, but can also function as particle-like mechanical stimulators. Furthermore, current studies reveal that bdelloids, similarly to monogonants, produce filamentous exudate; moreover, the body of bdelloids is covered by their exudate, unlike that of monogonants, especially in the case of A. vaga. A mathematical formula was developed as an improved version of a previously published viability marker to characterize the BPC and the relative amount of produced exudate in different conditions.Rotifer species secreting biopolymers appear to be a general trait indicating a common evolutionary background (e.g., calcium- and particle dependency) of such molecules; therefore, the BPC becomes an experiential sublethal influencing marker to these micrometazoans.

Drosophila nicotinic acetylcholine receptor subunits and their native interactions with insecticidal peptide toxins.

Drosophila nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels that represent a target for insecticides. Peptide neurotoxins are known to block nAChRs by binding to their target subunits, however, a better understanding of this mechanism is needed for effective insecticide design. To facilitate the analysis of nAChRs we used a CRISPR/Cas9 strategy to generate null alleles for all ten nAChR subunit genes in a common genetic background. We studied interactions of nAChR subunits with peptide neurotoxins by larval injections and styrene maleic acid lipid particles (SMALPs) pull-down assays. For the null alleles, we determined the effects of α-Bungarotoxin (α-Btx) and ω-Hexatoxin-Hv1a (Hv1a) administration, identifying potential receptor subunits implicated in the binding of these toxins. We employed pull-down assays to confirm α-Btx interactions with the Drosophila α5 (Dα5), Dα6, Dα7 subunits. Finally, we report the localisation of fluorescent tagged endogenous Dα6 during Drosophila CNS development. Taken together, this study elucidates native Drosophila nAChR subunit interactions with insecticidal peptide toxins and provides a resource for the in vivo analysis of insect nAChRs.

Beyond Mixed Logics

In order to define some interesting consequence relations, certain generalizations have been proposed in a many-valued semantic setting that have been useful for defining what have been called pure, mixed and ordertheoretic consequence relations. But these generalizations are insufficient to capture some other interesting relations, like other intersective mixed relations (a relation that cannot be defined as a mixed relation, but only as the intersection of two mixed relations) or relations with a conjunctive (or, better, “universal”) interpretation for multiple conclusions. We propose a broader framework to define these cases, and many others, and to set a common background that allows for a direct compared analysis. At the end of the work, we illustrate some of these comparisons

RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies.

The ring finger protein 213 gene (RNF213) encodes a 590 kDa protein that is thought to be involved in angiogenesis. This gene was first recognized as a vasculopathy-susceptibility locus through genome-wide association studies undertaken in a Japanese population, demonstrating that heterozygotes for RNF213 p.Arg4810Lys (c.14429G>A, rs112735431) had a greatly increased risk of moyamoya disease. The association of RNF213 p.Arg4810Lys as a susceptibility variant of moyamoya disease was reproduced in Korean and Chinese individuals and, later, in Caucasians. Variants of the RNF213 gene have been linked to a number of vascular diseases such as moyamoya disease, intracranial major artery stenosis, pulmonary arterial hypertension, and peripheral pulmonary artery stenosis, and have also been associated with co-occurrent diseases and vascular disease in different organs. Based on the findings that we have reported to date, our paper proposes a new concept of “RNF213-associated vascular disease” to unify these conditions with the aim of capturing patients with multiple diseases but with a common genetic background. This concept will be highly desirable for clarifying all of the diseases in the RNF213-associated vascular disease category by means of global epidemiological investigations because of the possibility of such diseases appearing asymptomatically in some patients.

Mentoring across differences in science education: Applying a brokering framework

AbstractMentoring relationships in academia have traditionally been described as a dyad between a mentor and a mentee. The mentor provides the mentee with both technical and psychosocial support to move toward obtaining their Ph.D. or gaining tenure and promotion. While there is an embedded assumption that mentoring is best suited when people of common background support each other, scholars must consider the impact of mentoring across differences. Given the lack of diversity among senior faculty members in science education, and given the increasing diversity represented among graduate students and early career scholars in science education, inevitably mentoring relationships will be formed across differences in identities (race, ethnicity, gender, sexuality, ability). In our essay, we focus on two focal points: we explore those aspects of mentoring relationships that research suggests are critical to the success of relationships built across differences, foregrounding lessons science education researchers can take from this literature and arguing that it is too much to expect one individual mentor to provide to any given mentee. Next, we propose a brokering framework, leveraging technological advances, to work toward more transformative mentoring outcomes at scale, particularly when mentoring across differences.

Turkish World and Literary Relations of the East

All Turkic literature has a common cultural framework. A substantial confirmation of this fact comes from the national spiritual heritage, which has become the basis for the further development and flourishing of the verbal art of Turkic peoples. First of all, these are Китабы Деде Коркут of the Oghuz, the Kyrgyz heroic epos Манас (Manas), Идегей (Idegei) – the variants of which were widespread among the Kazakhs and the Tatars, the famous Чура батыр (Chura Batyr) among the Tatars, etc. The works such as A Thousand Nights and a Night (Мың бір түн), Shakhname or Shakh-Name (Шахнама), Kalila and Dimna (Кәлила мен Димна), Leili and Majnun (Ләйлі-Мәжнүн), Zhusip-Zylikha (Жүсіп-Зылиха), Takhir-Zukhra, Farkhad-Shyryn or Khosrov-Shyryn (Хұсрау-Шырын) have exerted a significant influence on the development of literature. The article concludes that, despite the national differences of the Turkic peoples, they are united by common literary background, common goals, and interests, moral, spiritual, and cultural values. It is proved out again that the literature of the Turkic peoples is abundant in authors and works, characterized by a variety of genres and poetic forms, ideological and thematic wealth, and a high artistic level. Emphasis is also put on the fact that in the eastern tradition, there are many samples of word-of-mouth literature of the general plot and cultural heritage of the Turkic peoples who had inhabited the eastern lands since ancient centuries.

The role of detectability in the evolution of avian-dispersed fruit color

If the primary function of avian-dispersed fruit coloration were the maximization of detectability, then the commonest avian-dispersed fruit colors should be the ones most detectable to birds. We tested this prediction by photographing 63 fruit species primarily dispersed by birds, in situ in Sweden and Australia, with a multispectral camera closely mimicking the predominant spectral sensitivities of birds, including both UVS and VS (peak ultraviolet sensitivity ∼370 and 409 nm respectively) visual systems. Fruits were classified into nine distinct color categories based on different patterns of cone excitations, and were named by combining human color names with fruits’ UV reflective properties. For example, a bluish-UV fruit would be a fruit that excited the avian UV cone the most, but that also strongly excited the blue cone. Color and achromatic contrasts were calculated between each fruit color and common background objects, and compared to the relative abundance of the different fruit colors. Although red was highly detectable and the commonest color, the second and third commonest colors, purplish-UV and bluish-UV (often termed “black” by humans), were the least detectable. Although these latter two colors were more detectable to UVS than to VS birds, they were the least detectable to both visual systems. Rare fruit colors, such as UVish-purple, pink, and orange, were highly detectable to both visual systems. The lack of correlation between fruit color abundance and detectability suggests that the maximization of detectability has not been the primary driving force behind the evolution of fruit color.

Enhanced dynamic performance of grid feeding distributed generation under variable grid inductance

<p>Controlling weak grid-connected systems is very challenging. In transient, frequency and voltage oscillations may lead to voltage and/or frequency stability problems and finally lead to system collapse. During steady-state operation and at the point of common coupling (PCC), voltage degradation and grid voltage background harmonics restrict the inverter's functionality, reduce the power flow capability and cause poor power quality. With weak grid connection, grid impedance variance will contaminate the voltage waveform by harmonics and augment the resonance, destabilizing the inverter operation. In this paper, complete mathematical modeling is carried out and state feedback-plus-integral control is implemented to support the stabilization of the system. The proposed controller is adopted to provide a smooth transient under sudden load change by controlling the injected grid current under different grid inductance values. Furthermore, the proposed control is used to reduce the order and size of the inverter output filter while maintaining system stability. The proposed control has been compared with the conventional proportional integral (PI) controller under different scenarios to validate its effectiveness and to strengthen its implementation as a simple controller for distributed generator applications.</p>

"Dry oral and ocular manifestations and autoantibodies characteristic of primary Sjögren's syndrome in multiple sclerosis"

IntroductionThe relationship between primary Sjögren syndrome (pSS) and demyelinating diseases is still not well understood. These diseases seem to coexist amidst autoimmunity, raising questions about clinical characteristics, relationship with immunomodulatory treatment, and possible common immunological background underlying their pathogenesis. Objectivecalculate the frequency of dry oral and ocular manifestations and autoantibodies characteristic of primary Sjögren's Syndrome in Multiple Sclerosis. Methods202 patients with multiple sclerosis answered a questionnaire to identify complaints of xerostomia and xerophthalmia, according to diagnostic criteria for primary Sjögren's syndrome; 43 answered positively to at least one question; 27 had comorbidities or used drugs that cause dry symptoms and were excluded; 16 patients were selected for examinations for oral, ocular and serum anti-Ro/SS-A autoantibody evaluation. ResultsEleven (68.75%) patients complained of xerostomia; 14 (87.5%) of xerophthalmia. Sialometry < 0.1 ml/min was observed in three (18.8%); 13 patients underwent minor salivary gland biopsy and histopathological examination: focal score > 1 in three (23.1%). Schirmer test was < 5 mm/5 min in four (25%). Lyssamine green/fluorescein dye score was > 5 in three (18.8%). Anti-Ro/SS-A > 10 UI/mm in two (12.5%). Three (1,49%) patients met current criteria for primary Sjögren's syndrome. ConclusionsPatients with MS may report xerostomia and/or xerophthalmia even in the absence of comorbidities and use of medications capable of causing these symptoms, which may fulfill the diagnostic criteria for pSS. In this study, the frequency of pSS according to current criteria was within the range observed in the literature with older criteria. But the question remains whether the association between these diseases is fortuitous or whether there is a pathogenic link.

Improving Scene Text Recognition for Indian Languages with Transfer Learning and Font Diversity.

Reading Indian scene texts is complex due to the use of regional vocabulary, multiple fonts/scripts, and text size. This work investigates the significant differences in Indian and Latin Scene Text Recognition (STR) systems. Recent STR works rely on synthetic generators that involve diverse fonts to ensure robust reading solutions. We present utilizing additional non-Unicode fonts with generally employed Unicode fonts to cover font diversity in such synthesizers for Indian languages. We also perform experiments on transfer learning among six different Indian languages. Our transfer learning experiments on synthetic images with common backgrounds provide an exciting insight that Indian scripts can benefit from each other than from the extensive English datasets. Our evaluations for the real settings help us achieve significant improvements over previous methods on four Indian languages from standard datasets like IIIT-ILST, MLT-17, and the new dataset (we release) containing 440 scene images with 500 Gujarati and 2535 Tamil words. Further enriching the synthetic dataset with non-Unicode fonts and multiple augmentations helps us achieve a remarkable Word Recognition Rate gain of over on the IIIT-ILST Hindi dataset. We also present the results of lexicon-based transcription approaches for all six languages.

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

BackgroundFamilial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features in children and young adults with a common genetic background and similar lifestyle.MethodsWe employed advanced lipid profile testing, carotid intima media thickness (CIMT), pulse wave velocity (PWV), and peripheral artery tonometry (PAT) to assess atherosclerosis in a cohort of Amish ApoBR3500Q heterozygotes (n = 13), homozygotes (n = 3), and their unaffected, age-matched siblings (n = 9). ApoBR3500Q homozygotes were not included in statistical comparisons.ResultsLDL cholesterol (LDL-C) was significantly elevated among ApoBR3500Q heterozygotes compared to sibling controls, though several ApoBR3500Q heterozygotes had LDL-C levels in the normal range. LDL particles (LDL-P), small, dense LDL particles, and ApoB were also significantly elevated among subjects with ApoBR3500Q. Despite these differences in serum lipids and particles, CIMT and PWV were not significantly different between ApoBR3500Q heterozygotes and controls in age-adjusted analysis.ConclusionsWe provide a detailed description of the serum lipids, atherosclerotic plaque burden, vascular stiffness, and endothelial function among children and young adults with FH due to heterozygous ApoBR3500Q. Fasting LDL-C was lower than what is seen with other forms of FH, and even normal in several ApoBR3500Q heterozygotes, emphasizing the importance of cascade genetic testing among related individuals for diagnosis. We found increased number of LDL particles among ApoBR3500Q heterozygotes but an absence of detectable atherosclerosis.

Molecular cytogenetics and development of St-chromosome-specific molecular markers of novel stripe rust resistant wheat\u2013Thinopyrum intermedium and wheat\u2013Thinopyrum ponticum substitution lines

BackgroundOwing to their excellent resistance to abiotic and biotic stress, Thinopyrum intermedium (2n = 6x = 42, JJJsJsStSt) and Th. ponticum (2n = 10x = 70) are both widely utilized in wheat germplasm innovation programs. Disomic substitution lines (DSLs) carrying one pair of alien chromosomes are valuable bridge materials for transmission of novel genes, fluorescence in situ hybridization (FISH) karyotype construction and specific molecular marker development.ResultsSix wheat–Thinopyrum DSLs derived from crosses between Abbondanza nullisomic lines (2n = 40) and two octoploid Trititrigia lines (2n = 8x = 56), were characterized by sequential FISH–genome in situ hybridization (GISH), multicolor GISH (mc-GISH), and an analysis of the wheat 15 K SNP array combined with molecular marker selection. ES-9 (DS2St (2A)) and ES-10 (DS3St (3D)) are wheat–Th. ponticum DSLs, while ES-23 (DS2St (2A)), ES-24 (DS3St (3D)), ES-25(DS2St (2B)), and ES-26 (DS2St (2D)) are wheat–Th. intermedium DSLs. ES-9, ES-23, ES-25 and ES-26 conferred high thousand-kernel weight and stripe rust resistance at adult stages, while ES-10 and ES-24 were highly resistant to stripe rust at all stages. Furthermore, cytological analysis showed that the alien chromosomes belonging to the same homoeologous group (2 or 3) derived from different donors carried the same FISH karyotype and could form a bivalent. Based on specific-locus amplified fragment sequencing (SLAF-seq), two 2St-chromosome-specific markers (PTH-005 and PTH-013) and two 3St-chromosome-specific markers (PTH-113 and PTH-135) were developed.ConclusionsThe six wheat–Thinopyrum DSLs conferring stripe rust resistance can be used as bridging parents for transmission of valuable resistance genes. The utility of PTH-113 and PTH-135 in a BC1F2 population showed that the newly developed markers could be useful tools for efficient identification of St chromosomes in a common wheat background.

Cardiopulmonary Exercise Performance and Endothelial Function in Convalescent COVID-19 Patients.

Background: Endothelial dysfunction has been proposed as the common pathogenic background of most manifestations of coronavirus disease 2019 (COVID-19). Among these, some authors also reported an impaired exercise response during cardiopulmonary exercise testing (CPET). We aimed to explore the potential association between endothelial dysfunction and the reduced CPET performance in COVID-19 survivors. Methods: 36 consecutive COVID-19 survivors underwent symptom-limited incremental CPET and assessment of endothelium-dependent flow-mediate dilation (FMD) according to standardized protocols. Results: A significantly higher FMD was documented in patients with a preserved, as compared to those with a reduced, exercise capacity (4.11% ± 2.08 vs. 2.54% ± 1.85, p = 0.048), confirmed in a multivariate analysis (β = 0.899, p = 0.038). In the overall study population, FMD values showed a significant Pearson’s correlation with two primary CPET parameters, namely ventilation/carbon dioxide production (VE/VCO2) slope (r = −0.371, p = 0.026) and end-tidal carbon dioxide tension (PETCO2) at peak (r = 0.439, p = 0.007). In multiple linear regressions, FMD was the only independent predictor of VE/VCO2 slope (β = −1.308, p = 0.029) and peak PETCO2 values (β = 0.779, p = 0.021). Accordingly, when stratifying our study population based on their ventilatory efficiency, patients with a ventilatory class III-IV (VE/VCO2 slope ≥ 36) exhibited significantly lower FMD values as compared to those with a ventilatory class I-II. Conclusions: The alteration of endothelial barrier properties in systemic and pulmonary circulation may represent a key pathogenic mechanism of the reduced CPET performance in COVID-19 survivors. Personalized pharmacological and rehabilitation strategies targeting endothelial function may represent an attractive therapeutic option.

Association Between Type 1 Diabetes Mellitus and Celiac Disease: Autoimmune Disorders With a Shared Genetic Background

Type 1 diabetes mellitus (T1DM) and celiac disease (CD) are one of the most recognized related autoimmune disorders as they share a common genetic background that has been found in the HLA genotype, more specifically DQ2 and DQ8 molecules. Studies have shown that environmental factors as early or late exposure to cereals in the first months of life or the acquired viral infections have been implicated in the risk of development of autoantigens. CD, in most cases, is asymptomatic; therefore, it goes underdiagnosed. As a result, it has been linked to late consequences as decreased growth, delayed puberty, and anemia. Also, CD has been considered an independent risk factor for nephropathy and retinopathy. Therefore, in T1DM patients, as high-risk individuals, a CD screening has been recommended, especially to analyze their joint management. A gluten-free diet has been studied and linked to possible benefits in glycemic control or decreasing the hypoglycemic episodes in T1DM and preventing in CD the late bowel mucosal damage as gluten has been well documented as the primary trigger of these autoimmune responses. This article has reviewed the concurrent occurrence of T1DM and CD regarding the pathogenesis, clinical overlaps, screening, and management options.

Fine mapping of Pm58 from Aegilops tauschii conferring powdery mildew resistance.

The powdery mildew resistance gene Pm58 was traced to a 141.3-kb interval with the co-segregating marker Xkasp68500 in wheat breeding. Pm58 is a powdery mildew resistance gene identified in Aegilops tauschii accession TA1662 and effective in a common wheat background. To finely map Pm58, an F2 population of 676 plants derived from the cross T093 × TA1662 was used for recombinant screening. We obtained 13 recombinants that occurred between the flanking markers Xhnu670 and Xhnu186. Genotyping and phenotyping these recombinant F2:3 families delimited Pm58 to a 0.22-cM interval (Xsts20220-Xkasp61553) on chromosome arm 2DS. The region carrying the Pm58 locus was approximately 141.3-kb, which contained eight annotated genes according to the reference genome sequence of Ae. tauschii AL8/78. Haplotype analysis of 178 Ae. tauschii accessions using the candidate gene-specific markers identified a disease resistance gene AET2Gv20068500 as a candidate for Pm58. Comparative mapping of the Pm58-containing interval revealed two presence/absence variations (PAVs) between AL8/78 and common wheat Chinese Spring. PAV-1 resides in the 3'-end of AET2Gv20068500. The majority of 158 common wheat cultivars (84.8%) displayed the absence of a 14.1-kb fragment in the PAV-1 region, which was confirmed by aligning the targeted genome sequences of the other sequenced Ae. tauschii accessions and common wheat cultivars. A co-segregating marker Xkasp68500 developed from AET2Gv20068500 can distinguish TA1662 from all randomly selected common wheat cultivars and will be instrumental for tracking Pm58 in breeding programs.

Holophrastic Utterances: Types and Meaning Dimensions in Igbo

Linguistics, in its study of language, brings out the essential role communication plays in the daily lives of human beings. The roles are particularly revealed in semantics, the study of meaning. These meanings have as much different shades as they are used for interaction at the different levels of word, phrase and sentence. It is against this background that this paper focuses on “Holophrastic Utterances: Types and Semantic Dimensions in Igbo”. One of the objectives of the study is to make known the meaning of adult holophrastic expressions. The study is also purposed to categorize such utterances, reveal their contexts of usage and their dimensions of meaning in Igbo. The approach adopted for the study is descriptive. And it is the Use Theory of Meaning that guides the study. The research discovers that adult holophrastic utterances are such that go beyond the involvement of children’s type of simple one-word utterances used in their stages of development to embrace the use of such single words by adults to reveal the social or common background they share in their interactional relationships. It is the expression of a complex of ideas in a single word or in a fixed phrase. The holophrastic utterances have been discovered to be classifiable into interrogative, affirmative, consolatory, greeting, appeal, appreciative, disapproval, advisory, imperative and condemnation. It has also been found out that the names of the different classes are synonymous with their contexts and purposes.

Development of SNP Marker Sets for Marker-Assisted Background Selection in Cultivated Cucumber Varieties

Marker-assisted background selection is a powerful molecular tool that can enhance breeding efficiency through the analysis of a large number of markers representing the entire genomic background for precise selection. In the present study, the transcriptomes of 38 cucumber inbred lines with diverse traits were sequenced for single nucleotide polymorphism (SNP) mining for practical application to commercial cucumber breeding. A total of 62,378 high-quality SNPs were identified, of which 2462 SNPs were chosen based on the stringent filtering parameters. Finally, 363 evenly distributed common background selection markers (BMs) were developed and validated through polymorphism analysis and phylogenetic analysis using breeding materials with different genetic backgrounds; 327 out of 363 common BMs were useful for background selection. Moreover, the results of the phylogenetic analysis carried out using 50 selected core BMs were consistent with those for 327 common BMs. However, when the genotypes of breeding materials belonging to only the Baekdadagi-type were analyzed, the 327 common BMs showed a significant reduction in polymorphisms within the biased genomic locations. To address this issue, 59 highly polymorphic markers were selected as Baekdadagi BMs, as they showed better selection ability for the Baekdadagi-type. The 327 common BMs developed in the present study will enable efficient marker-assisted background selection in cucumber. Additionally, to reduce the genotyping cost, we suggested an alternative background selection strategy using both evenly distributed core BMs and biased Baekdadagi BMs for the improvement of commercial cucumber breeding programs.

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by pathogenic variants in RAI1 itself (10%). RAI1 is a dosage-sensitive gene expressed in many tissues and acting as transcriptional regulator. The majority of individuals exhibit a mild-to-moderate range of intellectual disability. The behavioral phenotype includes significant sleep disturbance, stereotypes, maladaptive and self-injurious behaviors. In this review, we summarize current clinical knowledge and therapeutic approaches. We further discuss the common biological background shared with other conditions commonly retained in differential diagnosis.

Congenital Bilateral Absence of the Vas Deferens.

Congenital bilateral absence of the vas deferens (CBAVD) is clinically characterized by the absence of the bilateral vas deferens; the main clinical manifestation is infertility, accounting for 1–2% of male infertility cases. CBAVD may be accompanied by congenital abnormalities in the urogenital system and cystic fibrosis (CF)-related clinical manifestations. CBAVD can develop as a mild manifestation of CF or can be isolated. The main pathogenic mechanism of CBAVD is gene mutation, and CBAVD and CF have a common genetic mutation background. CFTR mutation is the main pathogenic cause of CBAVD and CF, and ADGRG2 mutation is the second most common cause. Although lack of the vas deferens in CBAVD patients causes infertility due to the inability to release sperm, the testes of CBAVD patients have spermatogenic function. Therefore, CBAVD patients can achieve fertility through sperm retrieval surgery and assisted reproductive technology (ART). However, gene mutations in CBAVD patients can have an impact on the ART outcome, and there is a risk of passing on gene mutations to offspring. For CBAVD patients and their spouses, performing genetic counseling (which currently refers mainly to CFTR mutation screening) helps to reduce the risks of genetic mutations being passed on to offspring and of offspring having CF with concomitant CBAVD.