Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia.

A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There was no history of consanguinity, and a physical examination raised concerns about possible disorders of sexual development (DSD). Karyotyping and fluorescence in situ hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female. Sanger sequencing showed a heterozygous pathogenic mutation in the CYP21A2 gene known to be associated with 21-hydroxylase deficiency, thus confirming the diagnosis of congenital adrenal hyperplasia (CAH), Prader stage V. DSD with CAH is distressing for the patient and their families, and the management needs a multidimensional approach involving diverse medical, genetic, and psychological considerations. Cytogenetic and molecular genetic studies play an essential role in diagnosis and decision-making and should be made affordable in developing countries for better patient care.

Determination of target genes for classified molecular subtypes of triple-negative breast cancer form microarray gene expression profiling: An integrative in silico approach.

BACKGROUND: Highly heterogeneous triple-negative breast cancer (TNBC) has tough clinical features, which were gradually solving and improving in diagnosis by the molecular subtyping of TNBC. AIM: Presently, this study was focused on analyzing the genetic makeup of TNBC subtypes. SETTINGS AND DESIGN: This study explored the MicroArray expression profiling of differentially expressed genes in molecular subtypes BL1, BL2, IM, luminal androgen receptor, M, and mesenchymal stem-like of TNBC by analyzing the Gene Expression Omnibus dataset GSE167213. Various gene ontologies-based protein-protein interaction (PPI) networks were subtyped TNBC genes. The effect of genetic alteration on TNBC cases was also interpreted. MATERIALS AND METHODS: The MicroArray gene expression profiling was done through R programming and subjected to functional annotation through the database for annotation, visualization, and integrated discovery. The PPI networking of functionally associated genes was interpreted by STRING. The survival analysis was done through cBioPortal. STATISTICAL ANALYSIS USED: The t-test was used through R programming to generate the P values for a test of the significance of expressed genes. RESULTS: A total of 54,613 significant probes were analyzed in the TNBC MicroArray dataset. The functional PPI networks of BL1, BL2, and IM upregulated genes showed significant associations. The survival analysis of differentially expressed genes showed the significant prognostic effect of 32 upregulated genes of different subtypes on TNBC cases with genetic alterations, whereas the remaining genes showed no significant effects. CONCLUSION: The output of the present study provided significant target gene panels for different TNBC subtypes, which would add an informative genetic value to TNBC diagnosis.

Hyperostosis Frontalis Interna in a Dry Indian Human Skull: A Case Report.

Hyperostosis Frontalis Interna (HFI), a condition that has been sparsely explained till now, is a benign, asymptomatic, and irregular thickening of the endocranium of the frontal bone. It is found to be predominantly present in post-menopausal women during incidental X-ray or CT/MRI of the skull. The prevalence of HFI is documented in different populations, but in the Indian population, it is comparatively rare. Thus, we discuss a serendipitous finding of HFI in an Indian skull. This rare variation was noted in dry Indian human skulls. Gross features of the skull were noted, and it was an adult female skull. The area was decalcified, paraffin-embedded, and stained with Haematoxylin and Eosin. The skull bone was also subjected to plain X-ray/CT investigation. The X-ray skull of 50+ year female type features in anteroposterior and lateral view showed widening of the diploic spaces 8-10 mm with ill-defined hyperdense areas in the frontal region. Changes in computed tomography were noted. HFI often has nonspecific and benign symptoms. However, in severe cases, widespread clinical implications starting from headache, motor aphasia, parkinsonism, and depression can occur, and thus we all should be aware of it.

Epidemiological Characteristics and Role of Connexin-43 in Patients of Syndactyly Attending a Tertiary Care Center in Odisha, India.

BACKGROUND: Syndactyly is one of the most common hereditary limb malformations. Yet, epidemiological data in our state is not reported. The current study aims to understand the Connexin-43 expression in such patients. METHODOLOGY: A retrospective cohort study was done in the Department of Plastic surgery and Anatomy of All India Institute of Medical Sciences (AIIMS), Bhubaneswar. The study duration was three years, between 2019 and 2022. The total number of cases was 49 and included patients diagnosed with Syndactyly seeking surgical intervention. The demographic details and the personal and disease history were collected, analyzed, and interpreted. Immunohistochemistry study using Connexin-43. RESULTS: Out of the 49 patients, 26 (53.1%) were male, and 23 (46.9%) were female. Thirty nine (79.6%) had syndactyly, and 10 (20.4%) were diagnosed with syndactyly associated with another syndrome. Both complete and incomplete syndactyly was found. Strong membranous positivity of Connexin-43 was found in the keratinocytes of the stratum spinosum layer of the epidermis, while the stratum granulosum and stratum basale layer revealed negative staining. CONCLUSIONS: Syndactyly is mostly non-familial, sporadic with male preponderance affecting unilaterally and in incomplete form in our geographical location. We found an overt expression of Connexin-43 in these patients' stratum basale.

Genetic, Epigenetic, and Molecular Biology of Obesity: From Pathology to Therapeutics the Way Forward.

Obesity is a globally expanding silent epidemic having multiple risk factors and consequences associated with it. Genetic factors have been found to be playing undeniable roles in obesity. Intermingled relationship between epigenetics, metagenomics, and the environment influences obesity traits. High precision diagnostic tools have outlined many single nucleotide polymorphisms (SNPs), as well as many novel genes, that have been identified that create an obesogenic environment. Rare single-gene diseases can lead to early childhood obesity and less satiety. With almost 30% of the global population being under the grip of obesity, the coming days are alarming. This review summarizes the existing knowledge on the genetic causes of obesity including the epidemiology as well as the issues of concern and new additions to the list. Furthermore, we discuss the ways to enhance the healthcare outcome for patients of obesity through interdepartmental collaborations apart from pharmacological therapy that is still limited to a few drugs. The teamwork of geneticists, genetic counselors, physicians, bariatric surgeons, nurses, endocrinologists, and pharmacists may provide promising results in intervention.

Placental Thickness Measurement by Ultrasonography and Its Correlation with Gestational Age of Fetus in the Manipuri Population.

Purpose: The study was done to measure the placental thickness (PT) in pregnant women and find its correlation with the gestational age (GA) of the fetus by ultrasonography. Comparisons were also made with the other fetal biometry parameters, and baseline data were generated with respect to the gestational weeks and placental position. Materials and Methods: The study was a cross-sectional one with a sample size of 134 singleton pregnancies. About 11-40 weeks of gestation were studied for the measurement of PT and other fetal parameters. Informed consent was obtained before recording the data on the preformed questionnaire. All measurements were done in mm and during the relaxed phase of the uterus. Results: As per the study, PT (in mm) increases with an increase in GA (in weeks) and almost matches it from 12 to 34 weeks of gestation. PT had a strong correlation with GA (r = 0.966). The correlation was statistically significant, with a P < 0.001. Conclusion: Thus, the estimation of the thickness of the placenta at the cord insertion site by means of ultrasonography is a relatively simple, safe, and cheap modality for accurate estimation of GA, fetal growth, and placental abnormalities and thus can significantly affect the management and outcome of pregnancy.

Comparative Morphometry of the Sacrum and Its Clinical Implications: A Retrospective Study of Osteometry in Dry Bones and CT Scan Images in Patients Presenting With Lumbosacral Pathologies.

Background Morphometric measurement of the sacrum is crucial due to its active involvement in the instrumentation for lumbar pathologies. From screw placement to stabilization procedures for the spine, the sacrum remains a site of surgical importance. Thus, the purpose of this study was to generate baseline data by comparing two techniques, namely, osteometry in dry bones and CT scan imaging. Methodology In this study, 30 dry, fully ossified, disarticulated sacra were studied for osteometry, and 60 CT scan reports of patients with lumbar pathologies were retrospectively evaluated. In both cases, similar parameters were measured. The mean values were determined, the two methods were compared, and statistical analysis was performed. Results Among the 30 dry bone samples, 33.3% (10 out of 30) were males, while 55% of the CT scan group were males. Correlation between the different measurements in the CT scan group suggested that the vertebral body maximum width of S1 had a significant positive correlation with the vertebral body height of S1, sacral height, sacral breadth, transverse diameter of auricular surface, and vertical diameter of auricular surface. Statistically significant higher values (P < 0.001) were observed for the vertebral body mid diameter of S1, vertebral body height of S1, pedicle width, and pedicle depth measurements in the dry bone group compared to the CT scan group. Conclusions The efficiency of anaesthetic blocks can be increased if the parameters are evaluated beforehand. Moreover, sexual dimorphism of the bone can account for the varied results of the parameters, indicating the necessity to conduct gender-based studies in a wider population.

Unilateral Sternalis With Double Slips: An Astounding Muscle, Often Unnoticed and Unknown.

Discovery and variations of rectus sternalis muscle are occasionally seen in humans. However, during routine academic dissection of an adult male embalmed cadaver, a rare variant of the muscle was identified. The muscle had origin from the pectoral muscle and fascia and was inserted into external oblique aponeurosis along with the sixth rib and cartilage. It had double slips with the partial merging of the bellies. Knowledge regarding such unique muscle is important to anatomists for medical education as well as to surgeons during thoracic surgeries, in craniocaudal mammography where it can mimic breast mass and for using as muscle flap in the anterior chest wall, head and neck, and breast reconstructions.

Variable Branching Pattern of Tibial Nerve in the Tarsal Tunnel: A Gross Anatomical Study With Clinical Implications.

Introduction Tibial nerve is a larger component of the sciatic nerve. It arises from ventral branches (Anterior Division) - L4, L5, S1-S3. Then it travels along the distal border of the popliteus muscle, deep to gastrocnemius and soleus. In the leg, it is accompanied by the posterior tibial vessels and lies in the tarsal tunnel. It divides into the medial calcaneal nerve at the ankle, medial, and lateral plantar nerves under the flexor retinaculum. It carries sensory information. It can adapt to repeated forces and undergo stretch especially in ankle joint dorsiflexion and inversion of the foot. Compression of the tibial nerve in the tarsal tunnel can cause tarsal tunnel syndrome. Many surgical procedures need tibial nerve block which demands detailed knowledge of its variation. Materials and methods The study was cross-sectional and included lower limbs of five embalmed cadavers and 10 separate cadaveric lower limbs and was performed in the Department of Anatomy of Regional Institute of Medical Sciences, Imphal, India. The reference line (1 cm width) joining two landmarks medial malleolus and medial tubercle of calcaneus called the mideo-malleolar-calcaneal axis was determined and bifurcation of the tibial nerve was classified with respect to the axis. Results The tibial nerve in all the cases also crossed the posterior tibial vessels. In 11 cases (55%), the bifurcation of the tibial nerve was proximal to the mideo-malleolar-calcaneal axis with a mean distance of 1.86 cm above the axis, and thus comprising the maximum Type I category. Type II category, having bifurcation at the level of the axis, was found in six (30%) cases. Type III category, having three (15%) cases, was recorded to have bifurcation at a mean distance of 1.16 cm. Conclusion Proper anatomical knowledge of tibial nerve branching is required to prevent surgical complications, effective nerve block, procurement of tibial nerve graft.