Bilateral Symmetric Absence of Lumbricals of the Foot: A Rare Case Report.

Variations of the lumbricals of the foot are not common, unlike the lumbricals of the hand. Few cases of unilateral absence of lumbricals of the foot have been reported. There have been far fewer cases of bilateral asymmetric absence of the lumbricals of the foot reported. The study reports the findings observed during the routine dissection for undergraduate medical students in the Department of Anatomy. We observed that the third lumbrical in both the feet was absent in an elderly male cadaver. The other features of both feet were usual. Externally, there was no apparent deformity, operation mark, or evidence of injury in any of the feet. Considering the functional role of the lumbricals in particular and other small intrinsic muscles in general, on the mechanics of foot movement, it is of much significance to have the knowledge of the possible variations and their clinical implications, which should be studied using different diagnostic tools such as imaging techniques, dynamometry, and other modalities.

Bilateral higher carotid termination with rare anomalous emergence of ventral branches of the external carotid arteries: A cadaver study.

The common carotid artery bifurcates into two terminal branches-the external and internal carotid arteries. The head, neck, and face regions principally get their blood supply from the external carotid artery and its branches. Some previous articles have mentioned the abnormal pattern of the external carotid artery branching and its variable origin. In this article, a rare case has been documented, having the combination of anomalies of the high carotid termination and bilateral variable origin of the ventral branches of the external carotid artery encountered during routine dissection of the head and neck region of a 55-year-old male cadaver in the Department of Anatomy. In this instance, on the right side of the neck, we observed the presence of a thyrolinguofacial trunk which arose from the ventral surface of the external carotid artery, and on the left side, the linguofacial trunk emerged from the ventral surface of the external carotid artery while the superior thyroid artery branched off directly from the left common carotid artery. This apart, there was bilateral high termination of the common carotid artery. Although the exact embryogenesis of such common arterial trunks anomalies and high carotid termination is not clear, detailed and precise anatomical knowledge of such a combination of anomalies will provide further insight for better radiological evaluation and to avert iatrogenic vascular injuries during any surgical procedures of the head and face region.

The deleterious impact of a non-synonymous SNP on protein structure and function is apparent in hypertension.

Essential hypertension (EH) is a significant health issue around the globe. The indifferent therapy regimen suggests varied physiological functions due to the lifestyle and genetic presentations of an individual. The endothelial nitric oxide synthase (NOS3) gene is a crucial vascular system marker in EH that contributes significantly to the phenotype. Hence, the present study aimed to employ the candidate gene approach and investigate the association between NOS3 single nucleotide polymorphism (SNP) E298D (G894T/rs1799983) by applying several in silico tools and validation through human samples screening. We corroborated computational findings through a case-control study comprising 294 controls and 299 patients; the 894T allele emerged significantly as the risk allele (odds ratio=2.07; P=6.38E-05). The in silico analyses highlighted the significance of E298D on the native structure and function of NOS3. The dynamics simulation study revealed that the variant type 298D caused structural destabilization of the protein to alter its function. Plasma nitrite levels were reduced in patients (P=0.0002), and the same correlated with the 894T allele. Furthermore, correlations were apparent between clinical, genotype, and routine biochemical parameters. To conclude, the study demonstrated a perceptible association between the SNP E298D and NOS3 protein structure stability that appears to have a bearing on the enzyme's function with a deleterious role in EH.

Hypertensive Patients Exhibit Enhanced Thrombospondin-1 Levels at High-Altitude.

Thrombospondin-1 (THBS1) levels elevate under hypoxia and have relevance in several cardiovascular disorders. The association of THBS1 with endothelial dysfunction implies its important role in hypertension. To establish the hypothesis, we screened patients with hypertension and their respective controls from the two different environmental regions. Cohort 1 was composed of Ladakhis, residing at 3500 m above sea level (ASL), whereas Cohort 2 was composed of north-Indians residing at ~200 m ASL. Clinical parameters and circulating THBS1 levels were correlated in the case-control groups of the two populations. THBS1 levels were significantly elevated in hypertension patients of both cohorts; however, the levels were distinctly enhanced in the hypertensive patients of HA as compared to normoxia (p < 0.002). The observation was supported by the receiver operating curve analysis with an area under curve of 0.7007 (0.627-0.774) demonstrating the discriminatory effect of hypobaric hypoxia on the levels as compared to normoxia (p < 0.011). Significant correlation of THBS1 and mean arterial pressure was observed with upraised positive correlations in the hypertensive highlanders as compared to the hypertensive patients from sea-level. The prevalence of differential distribution of THBS1 and CD47 genes variants, their interactions, and association with the THBS1 levels were also determined. Genotype-interactions between THBS1 rs2228263 and CD47 rs9879947 were relevant and the regression analysis highlighted the association of risk genotype-interactions with increased THBS1 levels in hypertension. Genetic studies of additional thrombospondin pathway-related genes suggest the complex role of THBS1 in the presence of its family members and the related receptor molecules at HA.

Estrogen receptor α and ß gene polymorphism in relation to bone mineral density and lipid profile in Northeast Indian women.

Estrogen regulates bone homeostasis and has a cardio-protective effect. Its physiological functions are mediated through receptors (ER) whose expression can be regulated by presence or absence of polymorphisms. However, the association between ER polymorphisms and BMD as well as lipids are inconsistent. The aim of the study was to investigate whether polymorphisms in ESR are associated with bone mineral density (BMD) and lipids in a cohort of Indian women. We studied PvuII, XbaI polymorphisms in ESR1 and AluI, RsaI polymorphisms in ESR2 genes and their association with bone mineral density (BMD) and lipids in premenopausal (n = 293, mean age: 33.01 ±â€¯5.23 years) and postmenopausal (n = 145, mean age: 56.91 ±â€¯7.1 years) women from Northeast India. AluI and RsaI polymorphisms in ESR2 gene were associated with BMD in postmenopausal women. Logistic regression analysis adjusted for age, BMI, tobacco and alcohol consumption revealed that xx genotype in XbaI polymorphism is associated with osteopenia at spine (OR = 3.3, 95% CI = 1.067-10.204) in postmenopausal women suggesting that allele X is protective (OR = 0.419, 95% CI = 0.177-0.991). Genotype aa in AluI polymorphism, seemed to be protective (OR = 0.092 for osteopenia; OR = 0.152 for osteoporosis) at spine whereas A allele was associated with osteopenia at femur (OR = 2.123, 95% CI = 1.079-4.166) in postmenopausal women. Allele r of RsaI polymorphism, was associated with osteoporosis at spine (OR = 3.222, 95% CI = 1.302-7.96). Thus, AIuI polymorphism of ESR2 gene was associated with spinal and femoral BMD whereas RsaI only with spinal BMD in postmenopausal women and ESR genotypes were not associated with lipids.