Publications by authors named "Praisy Joy"

Background: Railway disasters cause huge loss of life and resources. A triple train collision occurred at 7 PM on 2nd June 2023 at Bahanaga, Balasore, Odisha. It was the third deadliest train accident in India with 288 deaths and more than 900 injured.

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Background & objectives Alkaptonuria (AKU) is an autosomal recessive disease wherein biallelic pathogenic variants in the homogentisate 1,2- dioxygenase (HGD) gene encoding the enzyme homogentisate 1,2 dioxygenase cause high levels of homogentisic acid (HGA) to circulate within the body leading to its deposition in connective tissues and excretion in urine. A homozygous splice donor variant (c.87+1G>A) has been identified to be the founder variant causing alkaptonuria among Narikuravars, a group of gypsies settled in Tamil Nadu.

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Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.

Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.

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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 hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female.

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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.

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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.

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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.

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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%.

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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.

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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.

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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.

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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.

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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.

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