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.

The Impact of Periodic Formative Assessments on Learning Through the Lens of the Complex Adaptive System and Social Sustainability Principles.

PURPOSE: Medical institutions in India have employed different periodic formative assessment (FA) methods with variable impact. The formative evaluation must incorporate feedback to improve learning. Formative assessment has helped inexperienced students apprehend their weaknesses, make choices, prepare for summative exams, and allow teachers to identify regions wherein students may also need aid. This study attempts to quantify the impact of the weekly, monthly, and semester formative assessments and view it retrospectively through the lens of complex adaptive systems and social sustainability principles. METHODS: We used a post-exam survey and statistical analysis to compare the students' performance between the timely periodic formative assessments in a competency-based curriculum. The cohort consisted of 2018 (semester), 2019 (weekly), and 2020 (monthly) first-year medical students. Cronbach alpha, spearman's correlation coefficient, descriptive statistics, and repeated measure analysis of variance were used to explore the reliability and relationship between formative assessment and summative scores of each cohort and find any significant difference. The authors also analyzed the accordance between the FA exam performance and students' perceptions, deduced broad themes, and discussed the appropriateness and feasibility of students' suggestions for changes. RESULTS: A significant correlation was found only between the weekly formative assessment and summative scores (r=0.74, p=0.01). The analysis of variance established significant differences between all summative scores of respective periodic formative assessments. The weekly formative assessment showed the highest mean summative examination scores. This study helped comprehend preclinical students' apprehension after the intervention of periodic formative assessments. The students found this intervention helpful in driving and detecting gaps in learning but preferred focused feedback, clinically oriented practices, and countered mental health issues. CONCLUSION: The continuous periodic formative assessment model had a valid educational impact but was not sustainable according to social sustainability principles. A complex adaptive framework can be utilized to make it sustainable.

Accessory Lobe of Liver: A Rare Hepatic Variation With Diagnostic Dilemma.

The liver is a very dynamic organ. Still, the gross anomalies of the liver are sparse. The accessory lobe of the liver is a rare anatomical variation with a prevalence of less than 1%. We present a case of an accessory lobe and two accessory grooves of the liver in a cadaver. The accessory lobe was an isolated anomaly, sessile in presentation, and attached to normal liver parenchyma. Although accessory lobes are rare, knowledge about them will reiterate to surgeons and radiologists to be mindful of them and to avoid misdiagnosis.

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.

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.