Uncommon Variations Research Articles

A case of left testicular artery with high origin passing through a left renal vein fenestration.

Fenestrations of are extremely rare in the venous system, especially renal veins. This paper aims to present a case of left renal vein fenestration where a high origin testicular artery passes through it. Materials and Methods The variation was observed incidentally in a 74-year-old Caucasian male cadaver during routine retroperitoneal dissections for second year medical students. A fenestration in the mid portion of the left renal vein was observed. The length and height of the fenestration was 23 and 3.6 millimeters, respectively. The left testicular artery passed through the fenestration and followed a normal course distal to the fenestration. Posterior to the left renal vein, the testicular artery originated from the lateral aspect of abdominal aorta, just caudal to the left renal artery. On the right side, the testicular artery had a similar high origin, and two renal arteries were present. No venous variations were observed on the right side. The long course of the left renal vein is a factor of preference for donor kidney selection. Uncommon variations of the left renal veins, such as fenestrations, might result in a change in surgical technique and would put the left donor kidney at risk of prolonged anastomosis time and lower survival rates.

The Risk of Genetic Variants and Socioeconomic Lifestyle for Insulin Resistance Traits: A Mini-review

Insulin resistance is a complex metabolic characteristic that increases the risk of developing cardiovascular disease which results from hypertension and dyslipidemia. The interaction of hereditary and environmental are factors driving the emergence of such disorders. Molecular techniques have now enabled the discovery of uncommon variations linked to the etiology of these disorders. Lipid metabolism is connected to various genetic variations associated with the etiology of metabolic syndrome. There are several genetic variants including epigenetic modifications alongside immunological status interference with pathogenic infectious that are directly related to insulin resistance and glucose metabolism. However, functional studies are required to determine the role of various genetic variations and other distinct factors in the development of insulin resistance. This review aims to give a broad overview of the interference of these genetic variants in the occurrence of insulin resistance. We also provide a summary of current developments in the environmental and immune factors associated with type 2 diabetes.

SPECTRUM OF INTRAHEPATIC AND EXTRAHEPATIC BILIARY TREE VARIATIONS BY MAGNETIC RESONANCE CHOLANGIOPANCREATOGRAPHY IN A TERTIARY CARE HOSPITAL OF NORTH EAST INDIA

Background: Biliary tree anatomy shows many variations. MRCP is a non–invasive and fast method for direct visualisation of the intra and extrahepatic biliary ducts and the pancreatic duct. Therefore, MRCP is increasingly used for preoperative planning since anatomic variants of biliary tree may increase the complexity of surgical procedures and biliary interventions. The purpose of the study is to know the prevalence of variations in our population and to provide a preoperative knowledge for planning of surgical interventions. MRCP was Materials and Methods: conducted on 100 adult patient and were evaluated retrospectively. All the patients underwent MRCP with a 1.5 Tesla MR machine (GE MR Signa) with 8- channel phased array coils. In 100 adult patients 68 were female and 32 w Results: ere male. Out of 100 patients Huang Type A1 were found in 68 patients [68%], type A2 in 12 patients [12%], type A3 in 9 patients [9%], type A4 in 4 patients [4%] and type A5 in 1 patient. 6 patients [6%] show other type of variations. Intrahepatic and extrahepatic bile duct anatomy is Conclusion: complex with many common and uncommon variations. Preoperative biliary mapping by MRCP is needed to plan the surgery and helpful in reducing biliary complications, postoperative morbidity and mortality

VARIATIONS OF BILIARY DUCTALANATOMY ON MRCP

Introduction:- Biliary anatomy and its common and uncommon variations are of considerable clinical signicance when performing living donor transplantation, radiological interventions in hepatobiliary system, laparoscopic cholecystectomy, and liver resection (hepatectomy, segmentectomy). Thus, magnetic resonance cholangiopancreatography (MRCP) has become the modality of choice for noninvasive evaluation of abnormalities of the biliary tract. The purpose of this study is to describe the variations of biliary ductal anatomy on MRCP. Material And Method:- Hospital based prospective study for a period of 1 year and 6 months in Department of Radiodiagnosis, AIMSR Bathinda after applying inclusion and exclusion criteria and after obtaining their informed written consent. Results:- In our study of the anatomical type of right hepatic duct, A1 type was most commonly found type in 75.2% (n=100) of patients out of which 65% (n= 65) of patients were found to be females and 35% (n=35) were found to be males. Left hepatic duct was found to be A1 type in 100 % of patients out of which 65.4 was females and 34.5 % was males. In our study, cystic duct insertion was found to be right lateral in 78.9% (n=105) of patients out of which 64.8% (n= 68) of patients were found to be females and 35.2% (n=37) were found to be males. Conclusion:-It was noticed that A1 remains the most common type of right hepatic duct but still one should be cautious for other types as they still make for one fourth of cases. Similarly, In case of cystic duct, although Right lateral type was most commonly encountered but since other types were found in nearly one fourth of patients, one should be on active look out for them too

An Update on Kleine-Levin Syndrome.

Kleine-Levin syndrome (KLS) is a rare relapsing-remitting sleep disorder distinguished by recurrent periods of severe hypersomnia accompanied by cognitive, mood, and behavioral changes. This review focuses mainly on the most recent developments and articles concerning this illness in the preceding five years while attempting to provide a basic overview of KLS. Genetic links were reported in some patients with KLS, like variation in TRANK1 in a worldwide case-control genome-wide association in patients with KLS, in addition to several uncommon variations in the LMOD3 gene, some of which are likely to be pathogenic, discovered by linkage analysis and exome sequencing in a sizable Saudi Arabian family with KLS and a European cohort of KLS patients. Additionally, recent data indicate that the amplitude of the circadian active/rest cycles significantly decreased during hypersomnia attacks, but during asymptomatic periods, it did not differ significantly from the controls. Moreover, patients with KLS are at a higher risk of developing emerging psychiatric disorders during follow-up. Recent data also points to possible discoveries of diagnostic-potential dysregulated proteomic patterns in KLS. Finally, new data suggest that functional imaging studies are often abnormal in KLS both during and between episodes. KLS is an uncommon, severe, and uniform illness. When it comes to the diagnosis and treatment of KLS, these characteristics offer both opportunities and challenges. Over the past five years, some promising work has appeared in genetics, functional imaging, and biomarker identification; nevertheless, these areas still need more focus to advance the detection andtreatment of patients suffering from KLS.

Ewing and Ewing-like sarcomas: A morphological guide through genetically-defined entities.

The fifth edition of the World Health Organization classification of soft tissue and bone tumors redefined Ewing sarcoma by fusions between EWSR1/FUS and ETS family of transcription factors, and recognized three tumor groups among Ewing-like sarcoma: CIC-rearranged sarcoma, sarcoma with BCOR genetic alterations, and round cell sarcoma with EWSR1::non-ETS fusions. Although this classification underscores the critical role of molecular genetics in the diagnosis of small round cell sarcoma, each entry is recognized as a specific entity not only because they have different genetics but because their phenotypes are distinct and reasonably robust to support the diagnosis. This review focuses on the morphological aspects of Ewing sarcoma and a subset of Ewing-like sarcomas (CIC-rearranged sarcoma, BCOR-associated sarcoma, and EWSR1::NFATC2 sarcoma) for which phenotypic characteristics have been well established. Classic histological findings, uncommon variations, and recurrent diagnostic pitfalls are addressed, along with the utility of recently developed immunohistochemical markers (NKX2.2, PAX7, ETV4, BCOR, CCNB3, and NKX3.1). Phenotypic expertise would significantly expedite the diagnostic process and complement (or sometimes outperform) genetic testing, even in well-resourced settings. Morphological knowledge plays an even more substantial role in facilities that do not have easy access to molecular testing.

Liquid biopsy using ascitic fluid and pleural effusion supernatants for genomic profiling in gastrointestinal and lung cancers

BackgroundPrecision medicine highlights the importance of incorporating molecular genetic testing into standard clinical care. Next-generation sequencing can detect cancer-specific gene mutations, and molecular-targeted drugs can be designed to be effective for one or more specific gene mutations. For patients with special site metastases, it is particularly important to use appropriate samples for genetic profiling. This study aimed to determine whether genomic profiling using ASC and PE is effective in detecting genetic mutations.MethodsTissues, plasma, ascites (ASC) supernatants, and pleural effusion (PE) samples from gastrointestinal cancer patients with peritoneal metastasis and lung cancer patients with pleural metastasis were collected for comprehensive genomic profiling. The samples were subjected to next-generation sequencing using a panel of 59 or 1021 cancer-relevant genes panel.ResultsA total of 156 tissues, 188 plasma samples, 45 ASC supernatants, and 1 PE samples from 304 gastrointestinal cancer patients and 446 PE supernatants, 122 tissues, 389 plasma samples, and 45 PE sediments from 407 lung cancer patients were analyzed. The MSAF was significantly higher in ASC and PE supernatant than that in plasma ctDNA (50.00% vs. 3.00%, p < 0.0001 and 28.5% vs. 1.30%, p < 0.0001, respectively). The ASC supernatant had a higher actionable mutation rate and more actionable alterations than the plasma ctDNA in 26 paired samples. The PE supernatant had a higher total actionable mutation rate than plasma (80.3% vs. 48.4%, p < 0.05). The PE supernatant had a higher frequency of uncommon variations than the plasma regardless of distant organ metastasis.ConclusionASC and PE supernatants could be better alternative samples when tumor tissues are not available, especially in patients with only peritoneal or pleural metastases.

Microsurgical Perspective for Uncommon Variations Associated with the Vertebrobasilar Junction: An Anatomical and Radiologic Investigation

Microsurgical Perspective for Uncommon Variations Associated with the Vertebrobasilar Junction: An Anatomical and Radiologic Investigation

Musculocutaneous and median nerve branching: anatomical variations. Case Series from UR clinical anatomy and literature review.

The brachial plexus is highly variable, which is a well-known anatomical fact. Repeated observations on anatomical variations, however, constitute current trends in anatomical research. In an anatomical dissection course, three uncommon variations in the brachial plexus were identified in three young adults' cadavers. In one case, the musculocutaneous nerve gave a branch to the median nerve, while the median nerve gave or received musculocutaneous branches in the two remaining corpses. Anatomical variations of the brachial plexus do occur in our setting. The cases we presented are about anatomical variations of branching patterns of the median and musculocutaneous nerves. Knowledge of those variations is essential for surgery and regional anesthesia of the upper limbs.

Next-Generation Sequencing in Cancer.

In this article, we provide a gestalt idea about NGS technologies and their applications in cancer research and molecular diagnosis. Next-generation sequencing (NGS) advancements like DNA sequencing and RNA sequencing allow uncovering of genomic, transcriptomic, and epigenomic scenes of individual malignant growths. An assortment of genomic abnormalities can be screened at the same time, for example common and uncommon variations, auxiliary variations like insertions and deletions, copy-number variation, and fusion transcripts. NGS innovations together with bioinformatics investigation, which extend our insight, are progressively used to analyze multiple genes in a cost-effective way and have been applied in examining clinical cancer samples and offering NGS-based molecular diagnosis. NGS is progressively significant as a device for the diagnosis of cancers.

Common and Uncommon Variations of Pulmonary Venous Drainage in Patients Undergoing Thoracoscopic Lobectomy.

Variations in pulmonary venous anatomy should not be undermined by thoracic surgeons during procedures which involve the pulmonary veins. We have identified vascular anomalies in 25 of 346 patients undergoing video-assisted thoracoscopic surgery lobectomy at our Thoracic Surgery Unit, between December 2016 and November 2018. Some vascular anomalies described have not been reported in recent literature and include right V7 draining into the middle lobe pulmonary vein, accessory right V6 behind the bronchus intermedius, two V6 from the apical segment of left lower lobe, two V6 from the apical segment of right lower lobe, and one of them draining into the superior pulmonary vein. Thoracic surgeons should be aware of this type of anomalies because failure in the preoperative or intraoperative identification of the pulmonary venous variations may lead to serious complications.

Periacetabular Osteotomy to Uncover the Hip: Uncommon Variations on a Common Procedure

PurposePeriacetabular osteotomy (PAO) is a versatile acetabular reorienting procedure that is most commonly used to provide greater femoral head coverage in adolescent hip dysplasia. However, PAO can also be used to reorient the acetabulum in the opposite direction to treat femoroacetabular impingement (FAI) due to acetabular over-coverage. We describe the indications, surgical technique, and early results of reverse PAO to reduce femoral head coverage in symptomatic hips with FAI due to acetabular over-coverage.MethodsIRB approval was obtained to retrospectively review cases of symptomatic acetabular over-coverage treated with reverse PAO and that had a minimum of two years follow-up. All hips had atypical intraoperative positioning of the acetabular fragment to uncover the lateral and anterior aspects of the femoral head, with or without anteverting the acetabulum. Prospectively collected pre- and post-operative demographics, WOMAC scores, Modified Harris Hip Score (MHHS), and radiographic measurements ...

Identical by Descent (IBD): Investigation of the Genetic Ties between Africans, Denisovans, and Neandertals

Interbreeding between human ancestors and other hominins has been extensively studied outside of Africa, but their shared history within Africa has received less study. However, comprehending subsequent events outside of Africa requires shining light on human evolution during this period, about which little is known. We investigate the genetic relationships of humans. By finding relatively short DNA sequences that these hominins share in the 1000 Genomes Phase 3 data, researchers were able to distinguish between African, Neandertals, and Denisovans descent by identical (IBD). It was confidently detected very short IBD segments by focusing on low frequency and uncommon variations. These segments reflect occurrences from the distant past because small IBD segments are likely older than larger ones. There have been two types of very old IBD segments found that are shared by humans, Neandertals, and/or Denisovans. Longer segments are more common in Asians and Europeans, with more segments in the South. Asians exceed East Asians in both Neandertal and Denisovan cultures. These longer portions indicate complex admixture occurring outside of the admixture events. Africa, the second category comprises shorter pieces that are largely shared among Africans and hence may depict African-related events.

Periacetabular Osteotomy To Uncover The Hip: Uncommon Variations On A Common Procedure

Purpose: Periacetabular osteotomy (PAO) is a versatile acetabular reorienting procedure that is most commonly used to provide greater femoral head coverage in adolescent hip dysplasia. However, PAO can also be used to reorient the acetabulum in the opposite direction to treat femoroacetabular impingement (FAI) due to acetabular over-coverage. We describe the indications, surgical technique, and early results of reverse PAO to reduce femoral head coverage in symptomatic hips with FAI …

Common and Uncommon Anatomical Variants of Intrahepatic Bile Ducts in Magnetic Resonance Cholangiopancreatography and its Clinical Implication.

SummaryBackgroundPreoperative knowledge of intrahepatic bile duct (IHD) anatomy is critical for planning liver resections, liver transplantations and complex biliary reconstructive surgery. The purpose of our study was to demonstrate the imaging features of various anatomical variants of IHD using magnetic resonance cholangio-pancreatography (MRCP) and their prevalence in our population.Material/MethodsThis observational clinical evaluation study included 224 patients who were referred for MRCP. MRCP was performed in a 1.5-Tesla magnet (Philips) with SSH MRCP 3DHR and SSHMRCP rad protocol. A senior radiologist assessed the biliary passage for anatomical variations.ResultsThe branching pattern of the right hepatic duct (RHD) was typical in 55.3% of subjects. The most common variant was right posterior sectoral duct (RPSD) draining into the left hepatic duct (LHD) in 27.6% of subjects. Trifurcation pattern was noted in 9.3% of subjects. In 4% of subjects, RPSD was draining into the common hepatic duct (CHD) and in 0.8% of subjects into the cystic duct. Other variants were noted in 2.6% of subjects. In 4.9% of cases there was an accessory duct. The most common type of LHD branching pattern was a common trunk of segment 2 and 3 ducts joining the segment 4 duct in 67.8% of subjects. In 23.2% of subjects, segment 2 duct united with the common trunk of segment 3 and 4 and in 3.4% of subjects segment 2, 3, and 4 ducts united together to form LHD. Other uncommon branching patterns of LHD were seen in 4.9% of subjects.ConclusionsIntrahepatic bile duct anatomy is complex with many common and uncommon variations. MRCP is a reliable non-invasive imaging method for demonstration of bile duct morphology, which is useful to plan complex surgeries and to prevent iatrogenic injuries.

Uncommon Celiac Trunk Variations in Association with Other Vascular Anomalies-Two Case Reports

Uncommon Celiac Trunk Variations in Association with Other Vascular Anomalies-Two Case Reports

Magnetic resonance cholangiographic evaluation of intrahepatic and extrahepatic bile duct variations.

Biliary anatomy and its common and uncommon variations are of considerable clinical significance when performing living donor transplantation, radiological interventions in hepatobiliary system, laparoscopic cholecystectomy, and liver resection (hepatectomy, segmentectomy). Because of increasing trend found in the number of liver transplant surgeries being performed, magnetic resonance cholangiopancreatography (MRCP) has become the modality of choice for noninvasive evaluation of abnormalities of the biliary tract. The purpose of this study is to describe the anatomic variations of the intrahepatic and extrahepatic biliary tree.

Comparative genomics of closely related Salmonella enterica serovar Typhi strains reveals genome dynamics and the acquisition of novel pathogenic elements.

BackgroundTyphoid fever is an infectious disease of global importance that is caused by Salmonella enterica subsp. enterica serovar Typhi (S. Typhi). This disease causes an estimated 200,000 deaths per year and remains a serious global health threat. S. Typhi is strictly a human pathogen, and some recovered individuals become long-term carriers who continue to shed the bacteria in their faeces, thus becoming main reservoirs of infection.ResultsA comparative genomics analysis combined with a phylogenomic analysis revealed that the strains from the outbreak and carrier were closely related with microvariations and possibly derived from a common ancestor. Additionally, the comparative genomics analysis with all of the other completely sequenced S. Typhi genomes revealed that strains BL196 and CR0044 exhibit unusual genomic variations despite S. Typhi being generally regarded as highly clonal. The two genomes shared distinct chromosomal architectures and uncommon genome features; notably, the presence of a ~10 kb novel genomic island containing uncharacterised virulence-related genes, and zot in particular. Variations were also detected in the T6SS system and genes that were related to SPI-10, insertion sequences, CRISPRs and nsSNPs among the studied genomes. Interestingly, the carrier strain CR0044 harboured far more genetic polymorphisms (83% mutant nsSNPs) compared with the closely related BL196 outbreak strain. Notably, the two highly related virulence-determinant genes, rpoS and tviE, were mutated in strains BL196 and CR0044, respectively, which revealed that the mutation in rpoS is stabilising, while that in tviE is destabilising. These microvariations provide novel insight into the optimisation of genes by the pathogens. However, the sporadic strain was found to be far more conserved compared with the others.ConclusionsThe uncommon genomic variations in the two closely related BL196 and CR0044 strains suggests that S. Typhi is more diverse than previously thought. Our study has demonstrated that the pathogen is continually acquiring new genes through horizontal gene transfer in the process of host adaptation, providing novel insight into its unusual genomic dynamics. The understanding of these strains and virulence factors, and particularly the strain that is associated with the large outbreak and the less studied asymptomatic Typhi carrier in the population, will have important impact on disease control.Electronic supplementary materialThe online version of this article (doi:10.1186/1471-2164-15-1007) contains supplementary material, which is available to authorized users.

Sequence and structural analyses of NSP4 proteins from human group A rotavirus strains detected in Tunisia

BackgroundThe NSP4 protein of group A rotavirus (RVA) has been recognized as a viral enterotoxin and plays important roles in viral pathogenesis and morphogenesis. Domains involved in structural and functional interactions have been proposed mainly based on the simian SA11 strain. MethodsNSP4 has been classified into 15 different genotypes (E1-E15), and the aim of this study was to analyze the sequences of 46 RVA strains in order to determine the aminoacid (aa) differences between E1 and E2 genotypes. Another aspect was to characterize the structural and physicochemical properties of these strains. ResultsComparison of deduced aa sequences of the NSP4 protein showed that divergences between NSP4 genotypes E1 and E2 were mostly observed in the VP4-binding, the interspecies variable domain (ISVD) and the double-layered particle (DLP) binding domains. Interestingly, uncommon variations in residues 131 and 138, which are known to be important aa in pathogenesis, were found in one unusual animal derived strain belonging to the E2 genotype. Concerning the structural aspect, no significant differences were noted. ConclusionThe presence of punctual aa variations in the NSP4 genotypes may indicate that NSP4 mutates mainly via accumulation of point mutations.

Uncommon trajectory variations of the mandibular canal and of the mandibular incisive canal: case report

This paper aims to report and discuss a case in which unusual anatomical variations were observed in the mandibular canal (MC) and the mandibular incisive canal (MIC) in a same patient. A 49-year-old healthy female was referred for mandibular dental implant placement. Panoramic radiography and cone beam computed tomography (CBCT) were performed. Cross-sections, axial, coronal, panoramic reconstructions and volume rendering were obtained. The panoramic radiograph did not show any evidence of abnormality. CBCT showed a bifid MC on the right side. It extended to the buccal cortex, exteriorized for 6mm and returned to its conventional trajectory to reach the mental foramen. On the left side, the MIC initially followed its normal trajectory for 4mm but, in the canine region, it also extended to the buccal cortex and exteriorized. The advent of CBCT in Dentistry allowed a greater accuracy in the diagnosis of anatomical variations in the jaws, preventing injury to the neurovascular bundle and enabling an adequate surgical planning in the region.