Eastern Populations Research Articles

A bird’s-eye view reveals no fixed differences in plumage coloration between divergent populations of Painted Buntings

AbstractIn birds, the process of speciation is closely associated with transitions in ornamentation, including coloration, plumage pattern, and song. To investigate the origins of these shifts and their connection to genetic changes, we conducted a study on one of the most highly ornamented songbirds, the Painted Bunting (Passerina ciris). The male Painted Buntings exhibits a stunning array of colors, with a red chest, blue head, green back, green coverts, and pink rump. In addition, Painted Buntings show a high level of genetic structure, with eastern and western populations that have fixed genetic differences in both nuclear and mitochondrial genes. Using non-invasive spectrophotometry techniques, we measured the coloration of six plumage patches on 88 museum specimens of male Painted Buntings in definitive plumage from across the range of the species. We predicted that there would be divergence between the genetically distinct eastern and western populations in ornamental coloration that is perceptible to a bunting but imperceptible to a human observer. However, we measured no consistent nor substantial difference in the plumage coloration of males from different populations. The observation of substantial divergence in nuclear and mitochondrial genotype with no change in ornamental coloration between populations of a brightly colored bird has important implications for the role of sexual selection in the process of speciation.

Prevalence and Clinicopathological Features of Autoimmune Metaplastic Atrophic Gastritis in the Eastern Province of Saudi Arabia: A Regional Study.

Introduction. Autoimmune metaplastic atrophic gastritis (AMAG, also termed autoimmune gastritis) is a chronic gastritis of autoimmune pathogenesis. Although its clinical and pathological features are well-documented in many countries, data from Middle Eastern populations remain scarce. This study examined the prevalence of AMAG in gastric specimens from the region, specifically from Saudi Arabia. Methods. We conducted a retrospective review of the pathology database of gastric specimens with a diagnosis of AMAG between 2020 and 2023. Detailed clinical, endoscopic, and pathological features of identified features were described. Result. Of the 978 gastric biopsies received, 17 patients were diagnosed with AMAG. The cohort comprised 11 women (64.7%) and 6 men (35.3%), presenting at a median age of 50 years (range: 32-85). Clinical manifestations varied widely, from abdominal pain (n = 6), dyspepsia (n = 2), symptomatic anemia with significant vitamin B12 deficiency (2 of 17) to asymptomatic/incidentally diagnosed patients (5 of 17). The tissue samples showed varying histological characteristics, with some showing lymphoplasmacytic infiltrate, mucosal atrophy, and hyperplasia of enterochromaffin-like cells. Conclusion. The observed prevalence of AMAG in our study aligns with global averages reported for other populations. The diverse clinical presentations highlight the need for awareness of findings in AMAG in gastric biopsies to ensure appropriate clinical management.

Abstract 4132159: Dietary Intake of Niacin and Risk of Cardiovascular Mortality in The Golestan Cohort Study

Introduction: Recent studies have linked niacin metabolism with vascular inflammation and cardiovascular disease (CVD); however, the association is still inconclusive regarding dietary intake, and the findings may not be generalizable to various populations. In this longitudinal study within a Middle Eastern population, we aimed to assess the relationship between dietary intake of B vitamins, including niacin, and the risk of CVD mortality. Methods: Our study utilized data from the Golestan Cohort Study, which has tracked 50,045 participants aged 40-75 years since 2004. We excluded subjects who reported extreme total energy intake or had a positive history of cancer, CVD, or diabetes at baseline. Vitamin B intake estimations including thiamin, riboflavin, niacin, pyridoxamine, folate, and cobalamin intake were derived from the baseline food frequency questionnaire, noting that supplement use was uncommon in this cohort. To adjust for calorie intakes, we employed the nutrient density method. Cox proportional hazard models were used to calculate hazard ratios (HR) and 95% confidence intervals (CI) for cardiovascular mortality, using the lowest quintile of intake as the reference group for vitamins and adjusting for potential confounders. Results: We analyzed 42,456 subjects with a mean age of 51.5 ± 8.7 years at baseline. During 579,339 person-years of follow-up (median: 14.1 years), 3,065 CVD deaths were recorded. The median dietary intake of niacin was 25.3 mg/d (Recommended Dietary Allowance = 14-16 mg/d). We observed significant associations between niacin intake (HR Q5 vs. Q1 = 1.13, 95% CI = 1.01-1.26, P trend <0.05) and CVD mortality. When niacin was modeled as a continuous linear variable, it was associated with a greater risk of CVD mortality (HR = 1.05, 95% CI = 1.01-1.09) per 2 mg/1000Kcal/d increase. None of the other B vitamin intakes evaluated were associated with CVD mortality in this population. Conclusion: These findings suggest that among B vitamins, only dietary niacin intake was positively associated with CVD mortality. Further confirmation in larger studies is needed.

New northernmost distribution records of the Eastern South Pacific southern right whale (Eubalaena australis), including the first cases from Ecuador and northern Peru.

The Eastern South Pacific Right Whale (SRW) (Eubalaena australis) population has gained interest due to its Critically Endangered conservation status. So far, this population has been confirmed only along the coasts of Chile (18°20'S to 56°30'S) and from southern to central Peru (17°38'S to 12°11'S). Recent records have extended the species' known range, highlighting its geographic distribution, now reaching 1500 km north. Here, we report six recent records, consisting of five sightings and one stranding, that expand the documented range to northern Ecuador (0.6°N). The northern extension of the population may be associated with the unusual three-year-long cold phase (La Niña) of the El Niño Southern Oscillation (ENSO) in the eastern South Pacific, population expansion, movement and re-distribution of the species, increased monitoring effort, or a combination of these factors. These observations raise hope for the Critically Endangered SRW population, as the occurrence of mother-calf pairs may indicate a potential for population recovery. Nevertheless, these findings intensify concerns for what is still the least abundant SRW population, underscoring the urgency for more targeted research and conservation measures.

Whole Exome-Wide Association Identifies Rare Variants in APC Associated with High-Risk Colorectal Cancer in the Middle East.

Background: Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enriched in high-impact rare alleles, which might play a crucial role in the etiology and susceptibility of CRC. Methods: In this study, an exome-wide association analysis was performed in 146 patients with high-risk CRC in the Middle East and 1395 healthy controls. The aim was to identify rare germline variants in coding regions and their splicing sites associated with high-risk CRC in the Middle Eastern population. Results: Rare inactivating variants (RIVs) in APC had the strongest association with high-risk CRC (6/146 in cases vs. 1/1395 in controls, OR = 59.7, p = 5.13 × 10-12), whereas RIVs in RIMS1, an RAS superfamily member, were significantly associated with high-risk CRC (5/146 case vs. 2/1395 controls, OR = 24.7, p = 2.03 × 10-8). Rare damaging variants in 17 genes were associated with high-risk CRC at the exome-wide threshold (p < 2.5 × 10-6). Based on the sequence kernel association test, nonsynonymous variants in six genes (TNXB, TAP2, GPSM3, ADGRG4, TMEM229A, and ANKRD33B) had a significant association with high-risk CRC. RIVs in APC-the most common high-penetrance genetic factor-were associated with patients with high-risk CRC in the Middle East. Individuals who inherited APC RIVs had an approximate 60-fold increased risk of developing CRC and were likely to develop the disease earlier. Conclusions: We identified new potential CRC predisposition variants in other genes that could play a role in CRC inheritance. However, large collaborative studies are needed to confirm the association of these variants with high-risk CRC. These results provide information for counseling patients with high-risk CRC and their families in our population.

Consanguinity

Objective: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with genetic and environmental factors. Although consanguinity is a common practice in the Middle Eastern population, the association between consanguinity and ASD severity is not clear. Methods: This retrospective study analyzed the records of 139 children (1.5-14 years) diagnosed with ASD from June 2011 to May 2024. The study analyzed the correlation between consanguinity, homozygosity, and ASD severity. Results: Of 139 cases, 74.1% were male, with an average age of diagnosis of 4.5 years (SD+- 2). Most ASD cases were at severity levels 2 (63.3%) and 3 (35.3%). Consanguinity was reported in 59% of cases, with a mean homozygosity rate of 4.6%. No significant correlation was found between consanguinity or homozygosity rates and ASD severity. Conclusion: No significant association was found between consanguinity or homozygosity rates and ASD severity. Further research is needed to explore the genetic mechanisms of ASD in consanguineous populations.

Phylogeny and systematics of the colubrid snake genera Liopeltis and Gongylosoma (Squamata: Colubridae) and description of a new Himalayan endemic genus and species.

The colubrid snakes of the genera Gongylosoma Fitzinger, 1843 and Liopeltis Fitzinger, 1843 are distributed across south and southeast Asia with five and eight nominate species, respectively. Despite their wide distribution, members of these genera are among some of the least-known colubrids. The two genera were considered synonymous in the past only to be separated later, and are defined on rather nebulose characters with a lack of support from molecular data. To test the monophyly of the two genera, we generated molecular data for the type species of Gongylosoma and species representing the two genera, including samples of Liopeltis rappii (Günther, 1860) from the western Himalayas. Results recovered paraphyly of Liopeltis, especially with regard to the genus Gongylosoma. Morphological data supports recognizing the western and eastern populations of L. rappii as two distinct species. The findings from our integrative taxonomic approach advocate establishing a new genus to embody Liopeltis rappii and a new allied species from the central and western Himalayas. A rediagnosis and revised classification of the genera Gongylosoma and Liopeltis is presented. The results further hint at cryptic diversity across members of the two genera, warranting scrutiny of the most widespread members of the group.

Paleoasian Substrate in the Gene Pool of Koryaks According to Data on Autosomal SNP Polymorphism and Y-Chromosome Haplogroups

The gene pool of the Koryaks was studied in comparison with other Far Eastern and Siberian peoples using a genome-wide panel of autosomal single-nucleotide polymorphic markers and Y-chromosome markers. The results of analyzing the frequencies of autosomal SNPs using various methods, the similarity in the composition of Y-chromosome haplogroups and YSTR haplotypes indicate that the gene pool of the Koryaks is as close as possible to the Chukchi one and was formed as a result of the unification of several groups whose ancestors moved from the territory of modern Yakutia and the Amur region. The two dominant Y-chromosome haplogroups of the Koryaks with different sublineages and haplotype clusters demonstrate their contacts with the Chukchi, Evens, Yukaghirs and Eskimos. Analysis of the composition of genetic components and IBD blocks on autosomes indicates the maximum genetic proximity of the Koryaks to the Chukchi. Among the Siberian populations, the Chukchi, Koryaks and Nivkhs form a separate cluster from the main group of Siberian populations, while the Chukchi and Koryaks are more closely related. Far Eastern populations are divided in full accordance with geographic localization into the northern group (Chukchi and Koryaks) and the southern group, including the Nivkhs and Udege. A more detailed analysis of the component composition of gene pools in some populations reveals components specific to them. The isolation of such components is associated with founder effects and a shift in allele frequencies for these populations. The Koryaks and Chukchi are one of the most striking examples of long-standing genetic kinship. In their populations, maximum values of the level of genomic inbreeding FROH 1.5 (0.0422, 0.0409) were found, which is natural due to their relative isolation.

Effectiveness of biologic therapies in achieving treatment targets in inflammatory bowel disease; real-world data from the Middle East (ENROLL study).

Real-world data assessing the effectiveness of biologics in patients with inflammatory bowel disease (IBD) in the Middle East are not well-established. In our study, we evaluated the effectiveness of biologic therapies in achieving clinical and endoscopic outcomes in biologic-naïve patients with IBD. A retrospective chart review was conducted at two tertiary care gastroenterology centers using electronic medical records of patients with moderate-to-severe IBD. The study period was from October 2017 to October 2023. Patients who were on infliximab, adalimumab, ustekinumab, or vedolizumab for 12 months were included in the analysis. The primary outcomes were the percentage of IBD-related hospitalizations or surgeries, achieving steroid-free remission, and endoscopic remission. A total of 422 patients were included in the study, of whom 264 (62.5%) patients had Crohn's disease (CD) and 158 (39%) had ulcerative colitis (UC). In patients with CD, endoscopic remission was attained in 51 (52%) of the patients on adalimumab, 38 (53%) of the patients on infliximab, 34 (56%) of the patients on ustekinumab, and 16 (51%) of the patients on vedolizumab. In patients with UC, endoscopic remission was attained in 40 (56%) of the patients on infliximab, 26 (61%) of the patients on adalimumab, 8 (55%) of the patients on ustekinumab, and 11 (53%) of the patients on vedolizumab. adalimumab, infliximab, ustekinumab, and vedolizumab were all effective in achieving clinical and endoscopic clinical outcomes in IBD in both UC and CD. The findings of this study suggest that the efficacy of biologics in a Middle Eastern population is similar to that in a Western population.

The association between religiosity, suicidality, psychological distress, and quality of life among breast cancer patients, an example of a Middle Eastern population.

The study aimed to explore the relationship between religiosity, psychological distress, and quality of life (QOL) in Saudi breast cancer patients. Utilizing a multi-center cross-sectional design, 277 patients were recruited. Patients completed questionnaires assessing religiosity, depression, anxiety, suicidality, and QOL. Results revealed a high prevalence of depression (35.7%) and anxiety (18.1%), with no significant variations in internal religiosity across different health stages, despite high levels of perceived social support. Suicidal ideation was reported by a small proportion of patients (2.5%). Multivariate analysis identified anxiety, therapy side effects, and breast symptoms as significant predictors of depression, while depression and previous psychiatric treatment predicted anxiety levels. QOL assessments indicated that body image received the highest satisfaction ratings, while sexual function received the lowest. These findings highlight the critical need for integrated mental health support in the treatment regimen of breast cancer patients.

Traces of Paleolithic expansion in the Nivkh gene pool based on data on autosomal SNP and Y chromosome polymorphism.

The Nivkhs are a small ethnic group indigenous of the Russian Far East, living in the Khabarovsk Territory and on Sakhalin Island, descending from the ancient inhabitants of these territories. In the Nivkhs, a specific Sakhalin-Amur anthropological type is prevalent. They are quite isolated, due to long isolation from contacts with other peoples. The gene pool of the Nivkhs and other Far Eastern and Siberian populations was characterized using a genome-wide panel of autosomal single-nucleotide polymorphic markers and Y chromosome haplogroups. Bioinformatic processing of frequencies of autosomal SNPs, Y chromosome haplogroups and YSTR haplotypes showed that the Nivkh gene pool is very different from the other populations'. Analysis of the SNP frequencies using the PCA method divided the Far Eastern populations in full accordance with the territories of their residence into the northern group of the Chukchi and Koryaks and the southern group, including the Nivkhs and Udege. The remoteness of the Nivkhs coincides with their geographic localization, with the Nivkhs and Udege demonstrating the greatest kinship. The Nivkhs have a specific component of their gene pool, which is present with much less frequency in the Udege and Transbaikal Evenks. According to the IBD blocks, the genotypes of the Nivkhs show a very small percentage of coincidence with the Udege, Koryaks, Evenks and Chukchi, the value of which is the lowest compared to the IBD blocks among all other Siberian populations. The Nivkh-specific composition of haplogroups and YSTR haplotypes was shown. In the Nivkhs, the C2a1 haplogroup is divided into three sublines, which have a fairly ancient origin and are associated with the ancestors of modern northern Mongoloids. The Nivkh haplogroup O2a1b1a2a-F238 is found among residents of China and Myanmar. The Q1a1a1-M120 line is represented among the Nivkhs, Koryaks, Evenks and Yukaghirs. Phylogenetic analysis of individual Y chromosomal haplogroups demonstrated the closeness of the Nivkh gene pool with the ancient population of the Amur and Okhotsk regions, the Koryaks, the Tungus peoples and the population of Southeast Asia. The Nivkh gene pool confirms the relative smallness of their ancestral groups without mixing with other populations.

Первая находка рода Tayloriellina (Teloschistoideae) и североамериканского вида T. microphyllina в Евразии (Дальний Восток России)

The subfamily Teloschistoideae (Teloschistaceae) is mainly distributed in the Southern Hemisphere. Just a few its species were recorded in eastern Asia, and only Teloschistes flavicans has been known in the Russian Far East. Here, we report the discovery of Tayloriellina microphyllina in the Primorye Territory on the eastern shore of Lake Khanka where it is abundant in xerothermic conditions of Quercus mongolica–Pinus × funebris forest. This corticolous Teloschistoideae species has been previously known in the temperate regions from the southern Canada to central Mexico in North America. Our finding is confirmed by molecular data (nrITS). Morphology and chemistry as well as long distance dispersal vs. relict origin of the Far Eastern population of T. microphyllina are shortly discussed.

Extensive Population Structure Highlights an Apparent Paradox of Stasis in the Impala (Aepyceros melampus).

Impalas are unusual among bovids because they have remained morphologically similar over millions of years-a phenomenon referred to as evolutionary stasis. Here, we sequenced 119 whole genomes from the two extant subspecies of impala, the common (Aepyceros melampus melampus) and black-faced (A. m. petersi) impala. We investigated the evolutionary forces working within the species to explore how they might be associated with its evolutionary stasis as a taxon. Despite being one of the most abundant bovid species, we found low genetic diversity overall, and a phylogeographic signal of spatial expansion from southern to eastern Africa. Contrary to expectations under a scenario of evolutionary stasis, we found pronounced genetic structure between and within the two subspecies with indications of ancient, but not recent, gene flow. Black-faced impala and eastern African common impala populations had more runs of homozygosity than common impala in southern Africa, and, using a proxy for genetic load, we found that natural selection is working less efficiently in these populations compared to the southern African populations. Together with the fossil record, our results are consistent with a fixed-optimum model of evolutionary stasis, in which impalas in the southern African core of the range are able to stay near their evolutionary fitness optimum as a generalist ecotone species, whereas eastern African impalas may struggle to do so due to the effects of genetic drift and reduced adaptation to the local habitat, leading to recurrent local extinction in eastern Africa and re-colonisation from the South.

The genetic consequences of historic climate change on the contemporary population structure of a widespread temperate North American songbird

Studies of widely distributed species can inform our understanding of how past demographic events tied to historic glaciation and ongoing population genetic processes interact to shape contemporaneous patterns of biodiversity at a continental scale. In this study, we used whole-genome resequencing to investigate the current population structure and genetic signatures of past demographic events in the widespread migratory American goldfinch (Spinus tristis). Phylogenetic relationships inferred from whole mitochondrial genomes were poorly resolved. In contrast, a genome-wide panel of > 4.5 million single nucleotide polymorphisms (SNPs) strongly supported the existence of eastern and western populations separated by western mountain ranges and additional population structuring within the western clade. Demographic modeling estimated that the eastern and western populations diverged approximately one million years ago, and both populations experienced subsequent population bottlenecks during the last glacial period. Species distribution models showed a severe contraction of suitable habitat for the American goldfinch during this period, with predicted discontinuities that are consistent with multiple, isolated glacial refugia that coincide with present-day population structure. Low overall genetic differentiation between the eastern and western populations (FST ∼ 0.01) suggests ongoing gene flow accompanied divergence, and individuals with admixed genomic signatures were sampled along a potential contact zone. Nevertheless, outlier SNPs were identified near genes associated with feather color, song, and migratory behavior and provide strong candidates for further study of the mechanisms underlying reproductive isolation and speciation in birds.

Phylogeography and population genomics of the critically endangered aquatic plant Caldesia grandis in China

Caldesia grandis, a critically endangered aquatic species, is predominantly found in the mid-low mountainous swamps of subtropical China. This study assessed the genetic diversity and population structure of the species using RAD-seq data, explored its phylogeography across the extant nine populations based on five plastid DNA (ptDNA) regions, and conducted niche modeling analysis. We found low genetic diversity (HE = 0.180, Ho = 0.222, and π = 0.197) and genetic differentiation among populations (Fst = 0.089), which was likely due to genetic drift in small populations and frequent inter-population contact during the Quaternary period. Although RAD-seq analysis did not reveal a clear population structure, two distinct clades, comprising western and eastern populations, were identified using five ptDNA haplotypes. Molecular dating and niche modeling suggested that the uplift of the Luoxiao Mts may have contributed to the divergence of the eastern and western clades (ca. 1.51 Ma)during the Pleistocene, which also supports the hypothesis that the Nanling Mts acted as a refugium for C. grandis. Additionally, the repeated glacial periods of the Quaternary, accompanied by contraction and expansion of suitable habitats, likely facilitated gene exchange among populations, influencing the current distribution pattern in subtropical China. Our results suggested that each ptDNA haplotype should be treated as an independent unit for conservation purposes, and ex-situ efforts should be prioritized to conserve C. grandis in China.

Dry Eye Disease Prevalence and Associated Risk Factors Among the Middle East Population: A Systematic Review and Meta-Analysis.

Dry eye disease (DED) is a common condition characterized by a loss of the tear film function, leading to symptoms of ocular discomfort and damage to the ocular surface. The prevalence and associated risk factors of DED may vary by region due to environmental, cultural, and genetic differences. The aim of the present study is to systematically review and analyze the prevalence and risk factors of DED in the Middle East (ME) region. This study adhered to the PRISMA 2020 guidelines. A comprehensive literature search was conducted using databases such as Web of Science, Scopus, Google Scholar, and PubMed to identify relevant studies published from January 2004 to July 2024. Studies included in the review were those that provided data on the prevalence and risk factors of DED in Middle Eastern populations. Data were extracted and analyzed to determine overall pooled prevalence and associated risk factors using a random-effects model. The study protocol was registered in the International Prospective Register of Systematic Reviews (PROSPERO) with the registration number CRD42024583897. The meta-analysis included 17 studies from 10 countries with a total of 22,087 subjects. The estimated pooled prevalence of DED in the ME region was 28.33% (95% CI: 27.74-28.93). The primary risk factors include age, female gender, and smoking. Other risks are contact lens use, prolongedscreen time (over six hours daily), diabetes, glaucoma medications, allergies, autoimmune diseases, refractive surgery, arthritis, high cholesterol, acne treatments, antihistamines, antidepressants, thyroid disease, and a history of conjunctival infections or corneal abrasions. The prevalence of DED in Middle Eastern countries was higher than the global estimate, highlighting significant regional variation. Common risk factors for DED include older age, female gender, and smoking. These findings underscore the need for targeted prevention and management strategies that address the specific risk factors prevalent in the Middle Eastern population.

Accuracy of Mandibular Foramen Localization Using Digital Orthopantomogram (OPG) in Middle Eastern Population.

Locating the mandibular foramen (MF) through imaging is clinically important for inferior alveolar nerve (IAN) anesthesia and mandibular ramus osteotomies. Although cone-beam computed tomography (CBCT) is superior in imaging the mandible, an orthopantomogram (OPG) is preferred for its ease of use and availability. Therefore, the present study aimed to evaluate the accuracy of digital OPG in localizing the MF, in a subset of the Middle Eastern population. Radiographic images (OPG and CBCT) of selected patients (adults, dentulous and no mandibular abnormalities) were used to locate the MF through digital measurements (mm) of the anteroposterior distance from the anterior border of the ramus (MF-AP) and the superoinferior position from the mandibular occlusal plane (MF-SI). Measurements were statistically compared between OPG and CBCT for accuracy. Differences in measurements between OPG and CBCT were compared against the anatomic location (right/left), age and biological sex, assuming a p-value < 0.05 as significant. A total of 204 radiographic records (males: 100/females: 104/mean age: 34.65 ± 11.55 years) were evaluated. The measurements for the MF were MF-AP-OPG (right: 13.53 ± 2.44/left: 13.19 ± 2.25), MF-AP-CBCT (right: 13.61 ± 2.39/left: 13.36 ± 2.19), MF-SI-OPG (right: 5.25 ± 1.71/left: 5.41 ± 1.65) and MF-SI-CBCT (right: 5.59 ± 1.66/left: 5.52 ± 1.61). Measurements between OPG and CBCT were not significantly different, except for MF-SI (right) (p = 0.042). While the overall difference between OPG and CBCT (MF-AP/MF-SI) measurements showed a significant association (p < 0.01) with the anatomic location (right/left), a significant association (p < 0.05) with biological sex was observed only for MF-AP. Based on this study's outcomes, digital OPG is an accurate modality to locate the MF based on anteroposterior (MF-AP) and superoinferior (MF-SI) measurements. This would be clinically beneficial for dental and oral surgeons to achieve the optimum IAN block anesthesia based on preoperative panoramic radiographs. Similarly, it would assist maxillofacial surgeons in planning mandibular orthognathic surgeries and ramus osteotomies without complications.

Genetic association of regulatory single nucleotide variants in GSTA1 and SULT1A1 with cigarette smoke-related lung cancer in an eastern Indian population

The differential expression of genes involved in xenobiotic metabolism and DNA repair has been implicated in the etiology of cigarette smoke-related lung cancer. Our research group has previously identified 22 gene expression-correlated DNAse hypersensitive sequence-single nucleotide variants (SNVs) with regulatory potential to modulate the transcription of seven xenobiotic metabolisms and seven DNA repair genes, thereby contributing to individual susceptibility to lung cancer. In this study, we evaluated the genetic association between lung cancer and two regulatory SNVs (rSNVs) from the list of 22, namely, rs2207950 (A/G) and rs743590 (G/A), which modulate the expression of the xenobiotic metabolism genes GSTA1 and SULT1A1, respectively. A polymerase chain reaction-restriction fragment length polymorphism-based association study was conducted among lung cancer patients exposed to cigarette smoke and healthy smoker controls from an eastern Indian population. A risk genotype AA of GSTA1 rs2207950, with predictive potential, was significantly over-represented among the patients. This genotype is known to cause lower expression of GSTA1 compared to the other two genotypes, potentially leading to reduced efficiency in clearing cigarette smoke-associated xenobiotics, thereby contributing to lung cancer development. Identifying such rSNVs in specific populations can contribute to the development of tailored therapies based on precision medicine, as well as inform efficient legislation governing tobacco use and genetic counseling.

No single safe zone exists for the valgus cut angle to reproduce neutral mechanical alignment in the presence of femoral bowing in total knee arthroplasty.

The aim of this study is to report the prevalence of femoral bowing in the Egyptian arthritic knees as a representative of the middle eastern population and to study the correlation between the femoral bowing and the degree of arthritis, varus deformity and the distal femoral valgus cut angle (VCA). This is a single-center observational cross-sectional study. Out of 562 knees Scheduled for TKA, 124 knees were excluded leaving 438 knees eligible for the study. The following angles were measured by two independent orthopedic surgeons: Femoral bowing angle (FBA), HKA angle, LDFA, MPTA and VCA. Out of 438 knees, 21knees (4.8%) had medial bowing (< - 3°), 111 (25.3%) had normal bowing (+ 3° to - 3°) and 306 (69.9%) had LFB of which 111 (25.34%) had mild LFB (+ 3 to + 5°) and 195 (44.52%) had severe LFB (> + 5°) bowing. LFB was more in older age group (p = 0.005), in females (p < 0.001), and in grade 4 OA, (p < 0.001). Also, there was a significant positive correlation between FBA and age and increasing varus HKA, and with varus orientation of the distal femur and the tibial plateau. The mean and the 95% confidence interval of the VCA for the medial bowing group was 3.43 (3.01-3.85°), for the normal bowing group was 5.42 (5.15-5.68°), for the mild lateral bowing was 6.74 (6.47-7°), and for the severe bowing group was 9.23 (8.89-9.55°). There is no single safe zone for the VCA to reproduce postoperative neutral coronal alignment especially in cases of severe lateral femoral bowing in TKA. However, the VCA should be analyzed in term of how much femoral bowing exists. In other words, for each subset of femoral bowing there is a safe zone for the VCA.

Radiological and Anthropometrical Analysis of the Hip Joint Using Computed Tomography Scan in North Indian Population

Abstract Background: Anthropometric research on the hip joint has significant clinical implications, including (1) implant design and (2) avoiding implant mismatch complications, such as aseptic loosening and incorrect load distribution, which are mainly unknown in North India. The aim of this research is to ascertain the anatomical differences in the normal hip joint across individuals in North India and to statistically compare the results with global data. Materials and Methods: We used one hip topogram and one axial segment of the femoral head to analyze 100 people (35 females and 65 males) with normal hips between the ages of 20 and 65. In both sexes and on both sides, we determined the means of the following measurements: femoral head diameter (HD), femoral neck width (NW), femoral neck length, acetabular angle of sharp, femoral version, horizontal offset, acetabular version, and vertical offset. Results: The following are the mean parameters that were observed: (a) neck shaft angle (NSA) - 128.93°, (b) femoral HD = 4.29 cm, (c) femoral NW = 2.97 cm, (d) femoral neck length = 3.61 cm, (e) Acetabular angle of Sharp - 33.01°, (f) Acetabular version = 20.44°, (g) femoral Version = 21.57°, (h) horizontal offset = 3.62 cm, and (i) Vertical offset = 4.43 cm. Conclusion: The NSA and acetabular angle of sharp were 5°–6° more when compared to the western population while horizontal and vertical offset is comparatively less than Western population and in the Indian NSA was higher for North Eastern population than the North Indian population. The residual parameters were comparable to those found in Western literature.