Macroscopic Hematuria Revealing Bladder Myeloid Sarcoma in Acute Myeloid Leukemia.

Acute myeloid leukemia (AML) can be presented with extramedullary manifestations, more frequently involving skin and rarely other sites, such as the urinary tract. We report the case of a 37-year-old male patient with a history of testicular cancer who presented to the emergency department with cytopenias and hematuria. Bone marrow analysis diagnosed AML (French-American-British(FAB) classificationM4 subtype, karyotype showing inv16).

Rare Case of Idiopathic Thrombocytopenia Causing Retrobulbar Hemorrhage.

Immune thrombocytopenia purpura (ITP) is defined as a platelet count lower than 100 × 10ˆ9/L, in the absence of known abnormalities in white blood cells, normal hemoglobin with generalized purpuric rash: making it a diagnosis of exclusion.1-2 ITP is due to destruction of platelets in the spleen via autoantibodies, resulting in reduced platelet counts.3 Though rare, ITP is linked with spontaneous retrobulbar hemorrhage (SRH).

The chromosome level genome assembly of the Asian green mussel, Perna viridis.

The Asian green mussel, Perna viridis is an important aquaculture species in the family Mytilidae contributing substantially to molluscan aquaculture. We generated a high-quality chromosome level assembly of this species by combining PacBio single molecule sequencing technique (SMRT), Illumina paired-end sequencing, high-throughput chromosome conformation capture technique (Hi-C) and Bionano mapping. The final assembly resulted in a genome of 723.

Mitogenomic recognition of incognito lineages in the mud spiny lobster Panulirus polyphagus (Herbst, 1793): A tale of unique genetic structuring and diversification.

This study provides the first documentation of three deep conspecific lineages within Panulirus polyphagus in the Indian Ocean, bridging the gap in genetic research. Comparative mitogenomics between lineages (L) at both species and family levels, evolutionary relationships and heterogeneity of sequence divergence within Decapoda, and divergence time estimation were performed. The characterized mitogenomes ranged from 15,685-15,705 bp in size and exhibited a typical pancrustacean pattern.

Tidings from the Tides-De novo transcriptome assembly of the endemic estuarine bivalve Villorita cyprinoides.

The Indian black clam Villorita cyprinoides Gray, 1825, is an economically valuable estuarine bivalve that faces challenges from multiple stressors and anthropogenic pressures. However, limited genomic resources have hindered molecular investigations into the impact of these stressors on clam populations. Here, we have generated the first transcriptomic reference datasets for V.

Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy.

Background: Biallelic pathogenic variants of LARS1 cause infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute hepatic failure with steatosis in infants. LARS functions as a protein associated with mTORC1 and plays a crucial role in amino acid-triggered mTORC1 activation and regulation of autophagy. A previous study demonstrated that larsb-knockout zebrafish exhibit conditions resembling ILFS.

Effect of nonsense-mediated mRNA decay factor SMG9 deficiency on premature aging in zebrafish.

SMG9 is an essential component of the nonsense-mediated mRNA decay (NMD) machinery, a quality control mechanism that selectively degrades aberrant transcripts. Mutations in SMG9 are associated with heart and brain malformation syndrome (HBMS). However, the molecular mechanism underlying HBMS remains unclear.

A Rare Case of Donor-Derived Renal Cell Carcinoma in a Kidney Transplant Recipient.

BACKGROUND The incidence of renal cell carcinoma (RCC) in transplanted kidneys is reported to be about 0.2%, which makes this case exceedingly rare. Risk factors include older age of the donors, smoking, obesity, and hypertension.

Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model.

The ACTA2 gene encodes actin α2, a major smooth muscle protein in vascular smooth muscle cells. Missense variants in the ACTA2 gene can cause inherited thoracic aortic diseases with characteristic symptoms, such as dysfunction of smooth muscle cells in the lungs, brain vessels, intestines, pupils, bladder, or heart. We identified a heterozygous missense variant of Gly148Arg (G148R) in a patient with a thoracic aortic aneurysm, dissection, and left ventricular non-compaction.

Resilience in rural health system.

Introduction: Current literature emphasises the importance of resilience in health care. Studies have shown that lack of resilience not only leads to adverse clinical outcomes but is also associated with burnout and long-term stress in clinicians. Resource-limited rural settings in the United States often impose unique stressors, and thus, it is critical to examine resilience of health care providers practicing rural medicine.

A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish.

V-ATPase is an ATP hydrolysis-driven proton pump involved in the acidification of intracellular organelles and systemic acid-base homeostasis through H secretion in the renal collecting ducts. V-ATPase dysfunction is associated with hereditary distal renal tubular acidosis (dRTA). ATP6V1B1 encodes the B1 subunit of V-ATPase that is integral to ATP hydrolysis and subsequent H transport.

Graves' Disease Exacerbation with Impending Thyroid Storm After SARS-CoV-2 Infection: A Case Report.

BACKGROUND Since the COVID-19 pandemic, several cases of COVID-19 have been linked to the development of autoimmune disorders, including of the thyroid. Graves' disease (GD) is a rare complication that can occur following SARS-CoV-2 infection. Reports have linked COVID-19 to new onset and exacerbation of GD.

Behavioral and neurological effects of Vrk1 deficiency in zebrafish.

Vaccinia-related kinase 1 (VRK1) is a serine/threonine kinase, for which mutations have been reported cause to neurodegenerative diseases, including spinal muscular atrophy, characterized by microcephaly, motor dysfunction, and impaired cognitive function, in humans. Partial Vrk1 knockdown in mice has been associated with microcephaly and impaired motor function. However, the pathophysiological relationship between VRK1 and neurodegenerative disorders and the precise mechanism of VRK1-related microcephaly and motor function deficits have not been fully investigated.

Genetics, Treatment, and New Technologies of Hormone Receptor-Positive Breast Cancer.

The current molecular classification divides breast cancer into four major subtypes, including luminal A, luminal B, HER2-positive, and basal-like, based on receptor gene expression profiling. Luminal A and luminal B are hormone receptor (HR, estrogen, and/or progesterone receptor)-positive and are the most common subtypes, accounting for around 50-60% and 15-20% of the total breast cancer cases, respectively. The drug treatment for HR-positive breast cancer includes endocrine therapy, HER2-targeted therapy (depending on the HER2 status), and chemotherapy (depending on the risk of recurrence).

Full-length transcriptome from different life stages of cobia (Rachycentron canadum, Rachycentridae).

Cobia (Rachycentron canadum, Rachycentridae) is one of the prospective species for mariculture. The transcriptome-based study on cobia was hampered by an inadequate reference genome and a lack of full-length cDNAs. We used a long-read based sequencing technology (PacBio Sequel II Iso-Seq3 SMRT) to obtain complete transcriptome sequences from larvae, juveniles, and various tissues of adult cobia, and a single SMRTcell generated 99 gigabytes of data and 51,205,946,694 bases.

Comparative mitogenomics of Clupeoid fish provides insights into the adaptive evolution of mitochondrial oxidative phosphorylation (OXPHOS) genes and codon usage in the heterogeneous habitats.

Clupeoid fish can be considered excellent candidates to understand the role of mitochondrial DNA in adaptive evolution, as they have colonized different habitats (marine, brackish, freshwater, tropical and temperate regions) over millions of years. Here, we investigate patterns of tRNA location, codon usage bias, and lineage-specific diversifying selection signals to provide novel insights into how evolutionary improvements of mitochondrial metabolic efficiency have allowed clupeids to adapt to different habitats. Based on whole mitogenome data of 70 Clupeoids with a global distribution we find that purifying selection was the dominant force acting and that the mutational deamination pressure in mtDNA was stronger than the codon/amino acid constraints.

SARS-CoV-2 infection in hematological patients during allogenic stem cell transplantation: A double case report.

Despite severe immunosuppression due to conditioning chemotherapy for acute myeloid leukemia, COVID-19 did not lead to clinical deterioration or death, thus raising the question of the impact of immunosuppressive treatment on clinical course evolution.

A Comprehensive Review of COVID-19 Virology, Vaccines, Variants, and Therapeutics.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative pathogen of the coronavirus disease 2019 (COVID-19), has caused more than 179 million infections and 3.8 million deaths worldwide. Throughout the past year, multiple vaccines have already been developed and used, while some others are in the process of being developed.

The signals of selective constraints on the mitochondrial non-coding control region: insights from comparative mitogenomics of Clupeoid fishes.

The vertebrate mitochondrial genome is characterized by an exceptional organization evolving towards a reduced size. However, the persistence of a non-coding and highly variable control region is against this evolutionary trend that is explained by the presence of conserved sequence motifs or binding sites for nuclear-organized proteins that regulate mtDNA maintenance and expression. We performed a comparative mitogenomic investigation of the non-coding control region to understand its evolutionary patterns in Clupeoid fishes which are widely distributed across oceans of the world, exhibiting exemplary evolutionary potential.