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1.
Neurohospitalist ; 14(3): 278-283, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38895017

ABSTRACT

The etiology of acute ischemic stroke (AIS) may often remain uncertain despite diligent work-up, especially in young people. Although patent foramen ovale (PFO) is a frequent association during such work-up, the actual source of thromboembolism, like deep vein thrombosis (DVT), may not be found. Such associative pathology makes it challenging to prescribe anticoagulation for secondary stroke prevention. We describe a young woman with a known history of PFO who presented with AIS and underwent endovascular reperfusion therapy. Post-thrombectomy, she developed hypoxic respiratory failure due to pulmonary embolism. Initiation of therapeutic anticoagulation was complicated by a retroperitoneal bleed necessitating imaging studies for etiological work-up. Computed tomographic angiography and venogram showed no active contrast extravasation but demonstrated duplication of the inferior vena cava with DVT in the right iliofemoral vein (RIFV). The proximity of the right common iliac artery compressing RIFV against the pelvic inlet is described as May-Thurner syndrome (MTS). Afterward, the patient was successfully treated with anticoagulation and PFO closure. MTS is a rare and underdiagnosed cause of iliofemoral DVT. In patients with known PFO, MTS is a possible cause that needs consideration. Hence, appropriate diagnostic tests are necessary to initiate appropriate management and to prevent AIS recurrence.

2.
Transl Pediatr ; 13(5): 738-747, 2024 May 31.
Article in English | MEDLINE | ID: mdl-38840674

ABSTRACT

Background: Duplicated kidneys, though rare, are common in pediatric urinary issues. For children with complete kidney duplication and symptoms or complications, surgery is often needed. Ureteroureterostomy (UU) is a common procedure for this condition. This study aims to evaluate and compare the clinical efficacy and safety of laparoscopic ureteroureterostomy (LUU) and open ureteroureterostomy (OUU) in the treatment of pediatric duplicated kidneys. Methods: A retrospective study at Children's Hospital of Anhui Province from February 2017 to January 2023 included pediatric patients who underwent LUU or OUU for completely duplicated kidneys. Comparative measures included operative time, postoperative hospital stay, intraoperative blood loss, pre- and postoperative renal pelvis anteroposterior diameter, pre- and postoperative upper renal parenchymal thickness, pre- and postoperative upper ureteral diameter, and postoperative complications. Results: There are 30 patients, 20 in the LUU group and 10 in the OUU group. All patients underwent surgery successfully, with no conversions to open surgery in the LUU group. Comparison between the LUU group (average age 3.7±3.4 years) and the OUU group (average age 1.6±1.3 years) showed that laparoscopic surgery had a mean duration of 178.8±60.71 min, intraoperative blood loss of 4.3±0.92 mL, drainage tube removal time of 1.8±0.6 days, and postoperative hospital stay of 4.2±2.2 days. In contrast, the OUU group had a mean surgery duration of 181.6±37.8 min, drainage tube removal time of 2.3±0.7 days, intraoperative blood loss of 6.4±4.06 mL, and postoperative hospital stay of 5.8±1.8 days. Although the LUU group had a shorter surgical duration, the difference was not statistically significant. However, intraoperative blood loss, drainage tube removal time, and postoperative hospital stay were significantly reduced in the LUU group, with statistical significance (P<0.05). After surgery, one case of urinary tract infection occurred in each group. Both groups had double-J stents placed postoperatively, which were removed cystoscopically 4-6 weeks later. Preoperative examinations showed no significant differences between the LUU and OUU groups in terms of upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness. However, in terms of postoperative recovery indicators, the LUU group outperformed the OUU group significantly, including upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness, with statistical significance (P<0.05). No hydronephrosis or worsening hydronephrosis was observed in the lower kidneys and ureters of the 30 patients postoperatively. Symptoms disappeared in patients with preoperative dribbling, and pain symptoms in the waist and abdomen relieved. No postoperative febrile urinary tract infections were observed. Conclusions: UU is an effective and safe method for treating pediatric completely duplicated kidneys. Compared to open surgery, laparoscopic surgery is associated with less trauma, faster postoperative recovery, and superior postoperative recovery of anatomical parameters (anteroposterior diameter, ureteral diameter, and parenchymal thickness) of the upper kidneys.

3.
Elife ; 122024 Jun 13.
Article in English | MEDLINE | ID: mdl-38869243

ABSTRACT

An expanded CAG repeat in the huntingtin gene (HTT) causes Huntington's disease (HD). Since the length of uninterrupted CAG repeat, not polyglutamine, determines the age-at-onset in HD, base editing strategies to convert CAG to CAA are anticipated to delay onset by shortening the uninterrupted CAG repeat. Here, we developed base editing strategies to convert CAG in the repeat to CAA and determined their molecular outcomes and effects on relevant disease phenotypes. Base editing strategies employing combinations of cytosine base editors and guide RNAs (gRNAs) efficiently converted CAG to CAA at various sites in the CAG repeat without generating significant indels, off-target edits, or transcriptome alterations, demonstrating their feasibility and specificity. Candidate BE strategies converted CAG to CAA on both expanded and non-expanded CAG repeats without altering HTT mRNA and protein levels. In addition, somatic CAG repeat expansion, which is the major disease driver in HD, was significantly decreased in the liver by a candidate BE strategy treatment in HD knock-in mice carrying canonical CAG repeats. Notably, CAG repeat expansion was abolished entirely in HD knock-in mice carrying CAA-interrupted repeats, supporting the therapeutic potential of CAG-to-CAA conversion strategies in HD and potentially other repeat expansion disorders.


Subject(s)
Gene Editing , Huntingtin Protein , Huntington Disease , Trinucleotide Repeat Expansion , Huntington Disease/genetics , Huntington Disease/therapy , Animals , Gene Editing/methods , Mice , Huntingtin Protein/genetics , Huntingtin Protein/metabolism , Trinucleotide Repeat Expansion/genetics , Disease Models, Animal , Humans , Mutation , Gene Knock-In Techniques
4.
BMC Plant Biol ; 24(1): 518, 2024 Jun 08.
Article in English | MEDLINE | ID: mdl-38851683

ABSTRACT

Plant polyploidization increases the complexity of epigenomes and transcriptional regulation, resulting in genome evolution and enhanced adaptability. However, few studies have been conducted on the relationship between gene expression and epigenetic modification in different plant tissues after allopolyploidization. In this study, we studied gene expression and DNA methylation modification patterns in four tissues (stems, leaves, flowers and siliques) of Brassica napusand its diploid progenitors. On this basis, the alternative splicing patterns and cis-trans regulation patterns of four tissues in B. napus and its diploid progenitors were also analyzed. It can be seen that the number of alternative splicing occurs in the B. napus is higher than that in the diploid progenitors, and the IR type increases the most during allopolyploidy. In addition, we studied the fate changes of duplicated genes after allopolyploidization in B. napus. We found that the fate of most duplicated genes is conserved, but the number of neofunctionalization and specialization is also large. The genetic fate of B. napus was classified according to five replication types (WGD, PD, DSD, TD, TRD). This study also analyzed generational transmission analysis of expression and DNA methylation patterns. Our study provides a reference for the fate differentiation of duplicated genes during allopolyploidization.


Subject(s)
Brassica napus , DNA Methylation , Gene Expression Regulation, Plant , Polyploidy , Brassica napus/genetics , Brassica napus/metabolism , Genes, Duplicate/genetics , Genes, Plant , Alternative Splicing , Gene Duplication , Epigenesis, Genetic
5.
Animals (Basel) ; 14(12)2024 Jun 14.
Article in English | MEDLINE | ID: mdl-38929409

ABSTRACT

Rotavirus is a major causative agent of diarrhoea in children, infants, and young animals around the world. The associated zoonotic risk necessitates the serious consideration of the complete genetic information of rotavirus. A segmented genome makes rotavirus prone to rearrangement and the formation of a new viral strain. Monitoring the molecular epidemiology of rotavirus is essential for its prevention and control. The quantitative RT-PCR targeting the NSP5 gene was used to detect rotavirus group A (RVA) in pig faecal samples, and two pairs of universal primers and protocols were used for amplifying the G and P genotype. The genotyping and phylogenetic analysis of 11 genes were performed by RT-PCR and a basic bioinformatics method. A unique G4P[6] rotavirus strain, designated S2CF (RVA/Pig-tc/CHN/S2CF/2023/G4P[6]), was identified in one faecal sample from a piglet with severe diarrhoea in Guangdong, China. Whole genome sequencing and analysis suggested that the 11 segments of the S2CF strain showed a unique Wa-like genotype constellation and a typical porcine RVA genomic configuration of G4-P[6]-I1-R1-C1-M1-A8-N1-T1-E1-H1. Notably, 4 of the 11 gene segments (VP4, VP6, VP2, and NSP5) clustered consistently with human-like RVAs, suggesting independent human-to-porcine interspecies transmission. Moreover, a unique 344-nt duplicated sequence was identified for the first time in the untranslated region of NSP5. This study further reveals the genetic diversity and potential inter-species transmission of porcine rotavirus.

6.
J Steroid Biochem Mol Biol ; 243: 106548, 2024 May 29.
Article in English | MEDLINE | ID: mdl-38821293

ABSTRACT

Due to alternative splicing in an ancestral DNA-binding domain (DBD) of the mineralocorticoid receptor (MR), humans contain two almost identical MR transcripts with either 984 amino acids (MR-984) or 988 amino acids (MR-988), in which their DBDs differ by only four amino acids, Lys,Cys,Ser,Trp (KCSW). Human MRs also contain mutations at two sites, codons 180 and 241, in the amino terminal domain (NTD). Together, there are five distinct full-length human MR genes in GenBank. Human MR-984, which was cloned in 1987, has been extensively studied. Human MR-988, cloned in 1995, contains KCSW in its DBD. Neither this human MR-988 nor the other human MR-988 genes have been studied for their response to aldosterone and other corticosteroids. Here, we report that transcriptional activation of human MR-988 by aldosterone is increased by about 50 % compared to activation of human MR-984 in HEK293 cells transfected with the TAT3 promoter, while the half-maximal response (EC50) is similar for aldosterone activation of MR-984 and MR-988. Transcriptional activation of human MR also depends on the amino acids at codons 180 and 241. Interestingly, in HEK293 cells transfected with the MMTV promoter, transcriptional activation by aldosterone of human MR-988 is similar to activation of human MR-984, indicating that the promoter has a role in the regulation of the response of human MR-988 to aldosterone. The physiological responses to aldosterone and other corticosteroids in humans with MR genes containing KCSW and with differences at codons 180 and 241 in the NTD warrant investigation.

7.
Cureus ; 16(4): e58044, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38738166

ABSTRACT

Duplicated inferior vena cava (D-IVC) is a relatively rare anatomical anomaly. Clinically, these anomalies are incidentally found on computed tomography (CT) or magnetic resonance imaging (MRI). Lack of pre-operative identification of this congenital malformation can lead to incomplete protection against thromboembolism or hemorrhage. We present a case of a 71-year-old male with a duplicated inferior vena cava who underwent insertion of bilateral inferior vena cava filters for deep vein thrombosis (DVT) management.

8.
Med Leg J ; : 258172241233403, 2024 May 03.
Article in English | MEDLINE | ID: mdl-38700508

ABSTRACT

Duplex kidney, a rare congenital anomaly characterised by dual urinary drainage from the kidney, is typically discovered incidentally, often during radiological imaging or autopsy procedures. We report a case of a 21-year-old male who died from injuries sustained in a road traffic accident. The autopsy examination showed an incidental finding of duplex kidney on the left side. We discuss the clinical and potential medico-legal significance of duplex kidney which also has implications in renal transplantation. Notably, the presence of duplex kidney can potentially serve as an identifier in forensic investigations, given its rare incidence.

9.
Article in English | MEDLINE | ID: mdl-38740131

ABSTRACT

STUDY OBJECTIVE: To investigate the reproductive outcomes of women with complete septate uterus and duplicated cervix who either did or did not receive cervical septum incision during hysteroscopic transcervical incision of the uterine septum. DESIGN: Retrospective study approved by the hospital ethics committee. SETTING: Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China. PATIENTS: Women with complete septate uterus and duplicated cervix who underwent hysteroscopic transcervical incision of the uterine septum in Obstetrics and Gynecology Hospital of Fudan University between January 2008 and December 2020 (n = 105). INTERVENTIONS: Hysteroscopic incision of the septum. MEASUREMENTS AND MAIN RESULTS: Included patients were grouped according to whether or not cervical septum incision was performed. Reproductive outcomes including gravidity, abortion rate, preterm birth rate, full-term birth rate, premature rupture of membranes, and cervical incompetence were assessed. In the no incision group, the abortion rate (7.4%) was significantly lower than that of the incision group (27.6%, p = .01); the preterm birth rate (4.6%) was significantly lower than that of the incision group (36.8%); and the full-term birth rate (95.5%) exceeded that of the incision group (63.2%, p <.01). Incidence of premature rupture of membranes and cervical incompetence during pregnancy was higher in the incision group (15.8% and 10.5%, p <.01 and p = .03). CONCLUSION: Significantly improved reproductive outcomes were observed among patients with complete septate uterus and duplicated cervix whose cervical septum was preserved during the hysteroscopic transcervical incision of the uterine septum procedure.

10.
Cureus ; 16(4): e57702, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38711729

ABSTRACT

Lung perfusion scintigraphy is a common nuclear medicine exam performed for the evaluation of pulmonary emboli, often in the emergency setting. There can be confusion when a radiotracer is located outside of the normal physiologic distribution. This can occur due to improper radionuclide tagging or may be due to anatomic variations. We present a case where a patient presented with bilateral lower extremity deep vein thrombosis and a nuclear medicine lung perfusion scintigraphy showing a complete right-to-left shunt related to a rare anatomical variant of a duplicated superior vena cava (SVC) with the right SVC draining directly into the systemic circulation via the left atrium.

11.
Genes (Basel) ; 15(4)2024 03 26.
Article in English | MEDLINE | ID: mdl-38674340

ABSTRACT

Gene duplication is a key biological process in the evolutionary history of plants and an important driving force for the diversification of genomic and genetic systems. Interactions between the calcium sensor calcineurin B-like protein (CBL) and its target, CBL-interacting protein kinase (CIPK), play important roles in the plant's response to various environmental stresses. As a food crop with important economic and research value, turnip (Brassica rapa var. rapa) has been well adapted to the environment of the Tibetan Plateau and become a traditional crop in the region. The BrrCIPK9 gene in turnip has not been characterized. In this study, two duplicated genes, BrrCIPK9.1 and BrrCIPK9.2, were screened from the turnip genome. Based on the phylogenetic analysis, BrrCIPK9.1 and BrrCIPK9.2 were found located in different sub-branches on the phylogenetic tree. Real-time fluorescence quantitative PCR analyses revealed their differential expression levels between the leaves and roots and in response to various stress treatments. The differences in their interactions with BrrCBLs were also revealed by yeast two-hybrid analyses. The results indicate that BrrCIPK9.1 and BrrCIPK9.2 have undergone Asparagine-alanine-phenylalanine (NAF) site divergence during turnip evolution, which has resulted in functional differences between them. Furthermore, BrrCIPK9.1 responded to high-pH (pH 8.5) stress, while BrrCIPK9.2 retained its ancestral function (low K+), thus providing further evidence of their functional divergence. These functional divergence genes facilitate turnip's good adaptation to the extreme environment of the Tibetan Plateau. In summary, the results of this study reveal the characteristics of the duplicated BrrCIPK9 genes and provide a basis for further functional studies of BrrCBLs-BrrCIPKs in turnip.


Subject(s)
Brassica rapa , Gene Duplication , Gene Expression Regulation, Plant , Phylogeny , Plant Proteins , Brassica rapa/genetics , Brassica rapa/growth & development , Brassica rapa/metabolism , Plant Proteins/genetics , Plant Proteins/metabolism , Genes, Duplicate/genetics , Stress, Physiological/genetics
12.
Cureus ; 16(3): e55854, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38590480

ABSTRACT

Duplicated cystic ducts are a rare congenital malformation with less than 20 reported cases before 2019. This malformation is important to identify to reduce the risk of intraoperative complications such as bile duct injuries that can increase postoperative morbidity and mortality. We present the case of a 62-year-old male with duplicated cystic ducts that were ligated during laparoscopic cholecystectomy and subsequently complicated by postoperative biloma formation. Treatment options for biliary leak include endoscopic retrograde cholangiopancreatography (ERCP) with stenting, percutaneous drainage, and duct embolization. Each carries the risk of complications such as infection, duct perforation, and stent/drain displacement. Roux-en-Y hepaticojejunostomy (RHYJ) tends to be the last resort when other minimally invasive procedures fail. It is imperative to identify postoperative complications related to cystic duct anomalies and the various treatment options available should these complications occur.

13.
Clin Imaging ; 109: 110138, 2024 May.
Article in English | MEDLINE | ID: mdl-38579501

ABSTRACT

PURPOSE: The purpose of this study is to characterize the prevalence and behavior of hydronephrosis of non-refluxing lower moiety of duplex kidneys using MAG-3 diuresis renography. We compare our data to previous case series and ureteropelvic junction obstruction of single systems. MATERIALS AND METHODS: An IRB-approved database of over 5000 diuresis renograms performed in 2025 patients was queried to identify cases of hydronephrosis of lower moiety of duplex kidneys suspicious for ureteropelvic obstruction, excluding those with hydroureter or reflux. Kidney function and post-furosemide drainage parameters on initial and follow-up diuresis renograms were recorded. Medical records and patient outcomes were reviewed. RESULTS: In total, 19 renal units were identified in 18 patients (11 male, 7 female), age range 0.5 months to 17.8 years, including one patient with bilateral lower moiety hydronephrosis. Initial diuresis renograms in 12 asymptomatic patients (13 renal units) with antenatal hydronephrosis demonstrated varying drainage patterns from normal to obstructed. Follow-up studies showed worsening drainage in 3 patients, who all underwent surgery. Drainage improved in 4 patients and remained unchanged in 5 patients (6 renal units). Of the 6 patients presenting with Dietl's crisis, 5 showed obstructive drainage on initial diuresis renogram, 2/5 with decreased function. All 5 obstructed patients underwent surgery. CONCLUSION: Hydronephrosis of the lower moiety of a duplex system is rare and behaves similarly to single systems. The majority are diagnosed antenatally, display a dynamic nature, and may present with acute obstruction. Diuresis renography is a valuable tool in its evaluation and management.


Subject(s)
Hydronephrosis , Ureteral Obstruction , Humans , Male , Female , Pregnancy , Infant, Newborn , Radioisotope Renography , Diuresis , Kidney/diagnostic imaging , Hydronephrosis/diagnostic imaging , Hydronephrosis/surgery , Furosemide , Ureteral Obstruction/diagnostic imaging
14.
Cell ; 187(6): 1547-1562.e13, 2024 Mar 14.
Article in English | MEDLINE | ID: mdl-38428424

ABSTRACT

We sequenced and assembled using multiple long-read sequencing technologies the genomes of chimpanzee, bonobo, gorilla, orangutan, gibbon, macaque, owl monkey, and marmoset. We identified 1,338,997 lineage-specific fixed structural variants (SVs) disrupting 1,561 protein-coding genes and 136,932 regulatory elements, including the most complete set of human-specific fixed differences. We estimate that 819.47 Mbp or ∼27% of the genome has been affected by SVs across primate evolution. We identify 1,607 structurally divergent regions wherein recurrent structural variation contributes to creating SV hotspots where genes are recurrently lost (e.g., CARD, C4, and OLAH gene families) and additional lineage-specific genes are generated (e.g., CKAP2, VPS36, ACBD7, and NEK5 paralogs), becoming targets of rapid chromosomal diversification and positive selection (e.g., RGPD gene family). High-fidelity long-read sequencing has made these dynamic regions of the genome accessible for sequence-level analyses within and between primate species.


Subject(s)
Genome , Primates , Animals , Humans , Base Sequence , Primates/classification , Primates/genetics , Biological Evolution , Sequence Analysis, DNA , Genomic Structural Variation
15.
Planta ; 259(5): 97, 2024 Mar 23.
Article in English | MEDLINE | ID: mdl-38520529

ABSTRACT

MAIN CONCLUSION: Utilizing RNAi, miRNA, siRNA, lncRNA and exploiting genotyping traits can help safeguard the food supply from illnesses and pest damage to Brassicas, as well as reduce yield losses caused by plant pathogens and insect pests. In the natural environment, plants face significant challenges in the form of biotic stress, due to various living organisms, leading to biological stress and a sharp decline in crop yields. To cope with these effects, plants have evolved specialized mechanisms to mitigate these challenges. Plant stress tolerance and resistance are influenced by genes associated with stress-responsive pathogens that interact with various stress-related signaling pathway components. Plants employ diverse strategies and mechanisms to combat biological stress, involving a complex network of transcription factors that interact with specific cis-elements to regulate gene expression. Understanding both plant developmental and pathogenic disease resistance mechanisms can allow us to develop stress-tolerant and -resistant crops. Brassica genus includes commercially important crops, e.g., broccoli, cabbage, cauliflower, kale, and rapeseed, cultivated worldwide, with several applications, e.g., oil production, consumption, condiments, fodder, as well as medicinal ones. Indeed, in 2020, global production of vegetable Brassica reached 96.4 million tones, a 10.6% rise from the previous decade. Taking into account their commercial importance, coupled to the impact that pathogens can have in Brassica productivity, yield losses up to 60%, this work complies the major diseases caused due to fungal, bacterial, viral, and insects in Brassica species. The review is structured into three parts. In the first part, an overview is provided of the various pathogens affecting Brassica species, including fungi, bacteria, viruses, and insects. The second part delves into the exploration of defense mechanisms that Brassica plants encounter against these pathogens including secondary metabolites, duplicated genes, RNA interference (RNAi), miRNA (micro-RNA), siRNA (small interfering RNA), and lncRNA (long non-coding RNA). The final part comprehensively outlines the current applications of CRISPR/Cas9 technology aimed at enhancing crop quality. Taken collectively, this review will contribute to our enhanced understanding of these mechanisms and their role in the development of resistance in Brassica plants, thus supporting strategies to protect this crucial crop.


Subject(s)
Brassica , MicroRNAs , RNA, Long Noncoding , Animals , Genotype , Brassica/genetics , Crops, Agricultural/genetics , Insecta , Stress, Physiological/genetics , RNA, Small Interfering , MicroRNAs/genetics
16.
Proc Natl Acad Sci U S A ; 121(14): e2321615121, 2024 Apr 02.
Article in English | MEDLINE | ID: mdl-38530892

ABSTRACT

Polymethoxyflavones (PMFs) are a class of abundant specialized metabolites with remarkable anticancer properties in citrus. Multiple methoxy groups in PMFs are derived from methylation modification catalyzed by a series of hydroxylases and O-methyltransferases (OMTs). However, the specific OMTs that catalyze the systematic O-methylation of hydroxyflavones remain largely unknown. Here, we report that PMFs are highly accumulated in wild mandarins and mandarin-derived accessions, while undetectable in early-diverging citrus species and related species. Our results demonstrated that three homologous genes, CreOMT3, CreOMT4, and CreOMT5, are crucial for PMF biosynthesis in citrus, and their encoded methyltransferases exhibit multisite O-methylation activities for hydroxyflavones, producing seven PMFs in vitro and in vivo. Comparative genomic and syntenic analyses indicated that the tandem CreOMT3, CreOMT4, and CreOMT5 may be duplicated from CreOMT6 and contributes to the genetic basis of PMF biosynthesis in the mandarin group through neofunctionalization. We also demonstrated that N17 in CreOMT4 is an essential amino acid residue for C3-, C5-, C6-, and C3'-O-methylation activity and provided a rationale for the functional deficiency of OMT6 to produce PMFs in early-diverging citrus and some domesticated citrus species. A 1,041-bp deletion in the CreOMT4 promoter, which is found in most modern cultivated mandarins, has reduced the PMF content relative to that in wild and early-admixture mandarins. This study provides a framework for reconstructing PMF biosynthetic pathways, which may facilitate the breeding of citrus fruits with enhanced health benefits.


Subject(s)
Citrus , Citrus/chemistry , Domestication , Plant Breeding , Methylation , Methyltransferases/metabolism
17.
Zool Res ; 45(2): 299-310, 2024 Mar 18.
Article in English | MEDLINE | ID: mdl-38485500

ABSTRACT

Understanding gene expression variations between species is pivotal for deciphering the evolutionary diversity in phenotypes. Rhesus macaques ( Macaca mulatta, MMU) and crab-eating macaques ( M. fascicularis, MFA) serve as crucial nonhuman primate biomedical models with different phenotypes. To date, however, large-scale comparative transcriptome research between these two species has not yet been fully explored. Here, we conducted systematic comparisons utilizing newly sequenced RNA-seq data from 84 samples (41 MFA samples and 43 MMU samples) encompassing 14 common tissues. Our findings revealed a small fraction of genes (3.7%) with differential expression between the two species, as well as 36.5% of genes with tissue-specific expression in both macaques. Comparison of gene expression between macaques and humans indicated that 22.6% of orthologous genes displayed differential expression in at least two tissues. Moreover, 19.41% of genes that overlapped with macaque-specific structural variants showed differential expression between humans and macaques. Of these, the FAM220A gene exhibited elevated expression in humans compared to macaques due to lineage-specific duplication. In summary, this study presents a large-scale transcriptomic comparison between MMU and MFA and between macaques and humans. The discovery of gene expression variations not only enhances the biomedical utility of macaque models but also contributes to the wider field of primate genomics.


Subject(s)
Genomics , Transcriptome , Humans , Animals , Macaca mulatta/genetics , Macaca fascicularis/genetics , Gene Expression Profiling/veterinary
18.
Cureus ; 16(1): e53285, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38435922

ABSTRACT

In this report, we present the combination of on-top plasty with a modified Bilhaut-Cloquet procedure for treating atypical radial polydactyly with duplication at the metacarpophalangeal (MP) joint and triphalangism of the radial and ulnar phalanges, hypoplastic middle phalanx of the radial thumb, and hypoplastic phalanx base of the ulnar thumb. To preserve the stable MP and interphalangeal joints of the radial and ulnar thumbs, respectively, on-top plasty involved osteotomizing the middle phalanx and transferring the distal end of the middle phalanx of the ulnar finger to the phalanx base of the radial thumb. A modified Bilhaut-Cloquet procedure was used to combine the tips and nails of both thumbs. Twelve months postoperatively, good joint alignment and thumb tip appearance were achieved. On-top plasties effectively combined the desirable parts of both thumbs. The modified Bilhaut-Cloquet technique is particularly well-suited for atypical cases, such as the present case.

19.
IJU Case Rep ; 7(2): 177-180, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38440706

ABSTRACT

Introduction: Parenchymal renal rupture due to a ureteric calculus is extremely rare and an emergency. Case presentation: A 54-year-old man was brought to the emergency room with left back pain without trauma. Computed tomography showed left parenchymal renal rupture with an incompletely duplicated renal pelvis, ureter, and an 11-mm ureteric calculus in the ureterovesical junction. A ureteral stent was placed, and the patient was treated conservatively as his vital signs were stable. We performed transurethral lithotripsy after resolution of the perirenal hematoma. Conclusion: To best of our knowledge, this report is the first to present a case of parenchymal renal rupture due to a ureteric calculus in an incompletely duplicated renal pelvis and ureter. Ureteric calculus within an incompletely duplicated renal pelvis and ureter is at risk of parenchymal renal rupture. Therefore, the aggressive treatment of ureteric calculus could be important.

20.
Indian J Thorac Cardiovasc Surg ; 40(2): 242-244, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38389782

ABSTRACT

Duplication of the vertebral artery is a very rare vascular variant. We describe a case of a duplicated left vertebral artery. Computed tomography (CT) angiography examination of the head and neck vessels of a 63-year-old man with a history of imbalance was undertaken. A duplicated left vertebral artery was incidentally noted. The medial limb directly originated from the arcus aorta between the left common carotid artery and the left subclavian artery. The lateral limb originated from the proximal left subclavian artery as the first branch and entered the transverse foramen of the C6 vertebra as usual. Prior to neck procedures requiring the anterior cervical approach and carotid endarterectomy, the awareness and diagnosis of the duplicated vertebral artery are important due to the potential risk of inadvertent vertebral artery injury. Therefore, this variation should be taken into account while evaluating cross-sectional imaging studies.

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