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.

A radio-anatomical study of median arcuate ligament syndrome: unveiling the morphology and morphometry of median arcuate ligament, celiac trunk, and superior mesenteric artery.

PURPOSE: In the context of medical literature, a significant lacuna exists in understanding median arcuate ligament syndrome (MALS). While clinical aspects are well documented, literature lacks a robust exploration of the anatomical relationship between the celiac trunk and the median arcuate ligament (MAL). METHODS: Morphometric parameters, including the vertebral level of MAL origin, MAL thickness, celiac trunk (CeT) origin level, diameter, and distances between CeT/Superior Mesenteric Artery (SMA) and the MAL center were observed on 250 CT angiograms. Cadavers (n = 11) were dissected to examine the same parameters and histo-morphological examination of MAL tissue was done. RESULTS: Radiological findings established average MAL thickness of 7.79 ± 2.58 mm. The celiac trunk typically originated at T12. The average distance between the celiac trunk and the MAL center was 1.32 ± 2.04 mm. The angle of the celiac trunk to the abdominal aorta was primarily obtuse. The average celiac trunk diameter was 5.53 ± 1.33 mm. Histological examinations revealed a diverse MAL composition, indicating variable mechanical properties. CONCLUSION: This study provides comprehensive morphometric data on the anatomical relationship between the MAL and the celiac trunk. In contrast to available literature which says the average MAL thickness of > 4 mm is an indicator of increased thickness, we observed much higher average thickness in the studied population. The findings contribute to a better understanding of normal anatomical variations which can serve as reference values for accurate radiological diagnosis of MALS. The histological examination revealed the heterogeneous nature of the MAL tissue composition, suggesting variable mechanical properties and functions in different regions.

The Attitude of Medical Students Toward Voluntary Body Donation: A Single Institute Survey and Narrative Review of Global Trends.

INTRODUCTION: Voluntary body donation (VBD) programs form the backbone of cadaveric teaching and learning in medical schools. It benefits the medical fraternity the most. Yet, there is a dearth of VBD practice among medical students. We aimed to understand the knowledge and attitude of first-year medical students in a tertiary institute with a systematic review of willingness toward VBD among undergraduate students worldwide. METHODS:  The first-year medical undergraduates were given a 12-item questionnaire to assess their knowledge and attitude toward VBD. Statistical tests were applied to analyze the difference between the variables. We systematically searched Google Scholar, PubMed, and SCOPUS databases until October 15, 2022. Data concerning knowledge, awareness, and attitude toward VBD among undergraduates of medical backgrounds were extracted and analyzed qualitatively. RESULTS: A total of 82.5% of students returned the completed responses. A significant association was seen between their attitudes toward whole body donation by strangers (p=0.043) and family members (p=0.035). The religion of the participants significantly affected their opinions on VBD and their willingness to pledge themselves (p=0.034). For the review, 20 studies were selected to be analyzed qualitatively. These studies included 4232 undergraduate students globally who were assessed for knowledge, awareness, and attitude toward VBD. Around 50% of the studies were published in India. The first study included was published in 2008. Seven studies were exclusively conducted on medical undergraduates, while the rest consisted of a mixed cohort. The attitude and knowledge of medical undergraduates on VBD were assessed via questionnaires containing both open-ended and closed-ended questions. CONCLUSION: Based on observations from our survey and review, we concluded that while undergraduate students have a highly positive attitude toward VBD, their rate of pledging is low. The most prominent barrier to this attitude is their experience with cadavers in the dissection hall. Hence, we recommend a revisit of cadaver handling practices and the establishment of appropriate protocols for safe and deferential cadaver handling.

Unilateral Right-Sided Progressive Flexor Digitorum Superficialis Brevis to the Little Finger: A Case Report With Review of Literature.

The flexor digitorum superficialis (FDS), an intermediate flexor of the forearm, can present with variations in the musculature or tendons. Here, we report a very rare anomaly of the FDS-V tendon replaced by a muscle belly in the palm, which was a progressive variation. This variation was found in a 60-year-old female cadaver on the right hand. The anomalous belly took its origin from the center of the volar aspect of the flexor retinaculum and was inserted into the A2 pulley of the middle interphalangeal joint to the little finger. The anomalous muscle was innervated by a branch of the median nerve. Knowledge of such variations will be useful for hand surgeons for meticulous planning of surgeries of the palm. The occurrences of such variations might interfere with the biomechanics of the FDS tendons.

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.

Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency.

BACKGROUND: AICA (5-aminoimidazole-4-carboxamide) ribosiduria is an inborn error in purine biosynthesis caused due to biallelic pathogenic variants in the 5-aminoimidazole-4-carboxamide ribonucleotide-formyltransferase/imp cyclohydrolase (ATIC) gene located on chromosome 2q35. ATIC codes for a bifunctional enzyme, AICAR transformylase and inosine monophosphate (IMP) cyclohydrolase, which catalyse the last two steps of de novo purine synthesis. This disorder has been previously reported in only 4 cases worldwide, and herein, we report the first from India. CASE REPORT: The proband presented with global developmental delay, developmental hip dysplasia (DDH), acyanotic heart disease and nystagmoid eye movements. Whole exome sequencing (WES) identified compound heterozygous pathogenic variants in the ATIC. A novel splice site variant; c.1321-2A > G and a previously reported missense variant; c.1277A > G (p.Lys426Arg) were identified. Segregation analysis of parents showed the father to be a heterozygous carrier for the splice site variant and the mother, a heterozygous carrier for the missense variant. CONCLUSION: This case of a rare genetic disorder of purine biosynthesis of ATIC deficiency is the first case reported from India. Early diagnosis lead to early interventional therapy and genetic counselling.

Clinical anatomy of the inferior epigastric artery with special relevance to invasive procedures of the anterior abdominal wall.

INTRODUCTION: Injury to the inferior epigastric artery (IEA) has been reported following lower abdominal wall surgical incisions, abdominal peritoneocentesis and trocar placements at laparoscopic port sites, resulting in the formation of abdominal wall haematomas that may expand considerably due to lack of tissue resistance. The aim of this study was to localise its course in relation to standard anatomic landmarks and suggest safe areas for performance of invasive procedures. MATERIALS AND METHODS: Sixty IEAs of 30 adult cadavers (male = 19; female = 11) were dissected and the course of the IEA noted in relation to the mid-inguinal point, anterior superior iliac spine (ASIS) and umbilicus. RESULTS: The mean distance of the IEA from the midline was 4.45 ± 1.42 cm at the level of the mid-inguinal point, 4.10 ± 1.15 cm at the level of ASIS and 4.49 ± 1.15 cm at the level of umbilicus. There was an average of 3.3 branches per IEA with more branches arising from its lateral aspect. The IEA was situated within one-third (32%) of the distance between the midline and the sagittal plane through ASIS at all levels. CONCLUSION: To avoid injury to IEA, trocars can be safely inserted 5.5 cm [mean + 1 standard deviation (SD)] away from the midline (or) slightly more than one-third of the distance between the midline and a sagittal plane running through ASIS. These findings may be useful not only for laparoscopic procedures but also for image-guided biopsy, abdominal paracentesis, and placement of abdominal drains.

Topography of inferior epigastric artery relevant to laparoscopy: a CT angiographic study.

PURPOSE: The incidence of inferior epigastric artery (IEA) injury is 0.2-2 %. The aim of this study was to trace the position and course of the inferior epigastric artery in the anterior abdominal wall above the inguinal ligament at three important landmarks, i.e., at the mid-inguinal point, Anterior Superior Iliac Spine (ASIS) and umbilicus in abdominal CT Angiograms. The study also correlates the relationship of body build and the position of the inferior epigastric artery. METHODS: In 50 CT Abdominal angiograms, the course of the inferior epigastric artery was traced and distance between the artery and midline was measured at the above landmarks using measurement tool on the picture archival and communication system. The measurements were analyzed using SPSS version 16 and expressed as mean and standard deviation. Mann-Whitney test was used to compare the mean values and ratios in males and females. Linear regression was done to derive formulas by which the position of the inferior epigastric artery could be found. RESULTS: The mean distance of the inferior epigastric artery from the midline was 5.17 ± 0.93 cm at the level of mid-inguinal point, 4.57 ± 1.05 cm at the level of ASIS and 5.27 ± 1.17 cm at the level of umbilicus. There was a definitive predictive pattern in the course of the artery as seen in correlation and regression analysis. CONCLUSION: The security distance for safe trocar placement was 6 cm at the level of ASIS and 9 cm at the level of umbilicus. Preoperative IEA assessment is helpful in reducing injuries to IEA.

The Ossified Bifid Superior Transverse Scapular Ligament Causing a Double Suprascapular Foramen: A Case Report.

Ossified bifid superior transverse scapular ligament causing a double suprascapular foramen is a very rare finding. This ossified ligament reduces the suprascapular space by half of its original size. It is one of the precipitating factors of suprascapular nerve entrapment. Here we describe a double suprascapular foramen in a dry left scapula of Indian origin. There were two bony bars bridging the suprascapular notch thereby making two foramina. The bony bars were 'V' shaped with its apex attached to the lateral side of the suprascapular notch. The upper foramen was large and triangular whereas the lower foramen was small and oval. Considering the shape of the foramen and the 'V' shaped attachment of the bony bars, we conclude it to be due to the ossification of bifid superior transverse scapular ligament. A double suprascapular foramen should always be kept in mind while diagnosing and treating suprascapular nerve entrapment. Knowledge about the double suprascapular foramen would be useful to orthopaedic surgeons who perform decompression for suprascapular nerve entrapment through arthroscopy and open procedures.

Comparison of the volar and medial approach in peripheral block of ulnar nerve at the wrist - a cadaveric study.

CONTEXT: Two standard approaches are described to block the ulnar nerve at wrist. These include a) the traditional Volar approach where the needle is inserted lateral to tendon of flexor carpi ulnaris (FCU) b) Medial approach where the needle is inserted posterior to the tendon of FCU. Caution must be exercised to avoid puncture of the ulnar artery and/or intraneural injection of the ulnar nerve in both the approaches. AIM: This study compares the volar and medial approach to the peripheral block of ulnar nerve at the wrist. The objective was two fold: a) to analyze the position of the ulnar nerve and the ulnar artery in relation to the Flexor Carpi Ulnaris tendon b) to assess the risk of injury to ulnar artery in both the volar and medial approach. SETTINGS AND DESIGNS: Twelve cadaveric upper limbs were used and both approaches compared by an observational study. MATERIALS AND METHODS: Two 18 G needles were inserted up to a depth of 7 mm using the standard volar and medial approach. The pattern of arrangement and positions of the ulnar artery and nerve in relation to FCU tendon were observed. The distance between the tip of needle and its proximity to the ulnar artery, and risk of injury were determined. Statistical analysis was done using SPSS for Windows, Version 16.0. Chicago, SPSS Inc. RESULTS: Three patterns of arrangement and position of the ulnar nerve and artery were observed. Puncture of ulnar artery was seen in 50% of cases in the volar approach as compared to no injury at all in the medial approach. The ulnar artery is highly liable to injury during the volar approach in type I and II and safe only in type III arrangement of ulnar artery. The medial approach showed no injury to the ulnar artery or nerve at a penetration depth of 7mm. CONCLUSION: The medial approach is safer compared to volar approach for peripheral block of ulnar nerve at wrist.