Atlantoaxial Osteoarthritis: An Overlooked Condition.

Atlantoaxial osteoarthritis (AAOA) is a clinical syndrome that consists of occipitocervical pain and cervical rotation limitation. Its clinical recognition is often deficient leading to misdiagnosis and suboptimal treatment. The incidence of AAOA varies from 5% in the sixth decade to as much as 18% in the ninth decade of life.

Non-canonical transcriptional regulation of the poor prognostic factor UGT2B17 in chronic lymphocytic leukemic and normal B cells.

Background: High expression of the glycosyltransferase UGT2B17 represents an independent adverse prognostic marker in chronic lymphocytic leukemia (CLL). It also constitutes a predictive marker for therapeutic response and a drug resistance mechanism. The key determinants driving expression of the UGT2B17 gene in normal and leukemic B-cells remain undefined.

Expanding the phenotypic spectrum for CDK8-related disease: A case report.

Background: Cyclin-dependent kinase 8 (CDK8) is part of a regulatory kinase module that regulates the activity of the Mediator complex. The Mediator, a large conformationally flexible protein complex, goes on to regulate RNA polymerase II activity, consequently affecting transcriptional regulation. Thus, inactivating mutations of the genes within the kinase module cause aberrant transcriptional regulation and disease, namely, CDK8-related intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA).

Radiological markers of neurological manifestations of post-acute sequelae of SARS-CoV-2 infection: a mini-review.

The neurological impact of COVID-19 is a rising concern among medical professionals, as patients continue to experience symptoms long after their recovery. This condition, known as neurological post-acute sequelae of COVID-19 (Neuro-PASC), can last for more than 12 weeks and includes symptoms such as attention disorders, brain fog, fatigue, and memory loss. However, researchers and health professionals face significant challenges in understanding how COVID-19 affects the brain, limiting the development of effective prevention and treatment strategies.

Review of current 2SLGBTQIA+ inequities in the Canadian health care system.

Gender identity and sexual orientation are determinants of health that can contribute to health inequities. In the 2SLGBTQIA+ community, belonging to a sexual and/or gender minority group leads to a higher risk of negative health outcomes such as depression, anxiety, and cancer, as well as maladaptive behaviors leading to poorer health outcomes such as substance abuse and risky sexual behavior. Empirical evidence suggests that inequities in terms of accessibility to health care, quality of care, inclusivity, and satisfaction of care, are pervasive and entrenched in the health care system.

Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome.

PTEN hamartoma tumor syndromes (PHTS) comprise hamartomatous overgrowth syndromes associated with PTEN germline mutations. In this case report, we describe a variant identified by next generation sequencing causing peculiar dermatological and skeletal features not yet described in the literature. Being cognizant of such unique disease presentations in PHTS, that manifest at a very young age, could help facilitate a timely diagnosis by clinicians and thus the early education of families on active cancer surveillance.

A Non-Canonical Role for the Glycosyltransferase Enzyme UGT2B17 as a Novel Constituent of the B Cell Receptor Signalosome.

In chronic lymphocytic leukemia (CLL), an elevated glycosyltransferase UGT2B17 expression (UGT2B17) identifies a subgroup of patients with shorter survival and poor drug response. We uncovered a mechanism, possibly independent of its enzymatic function, characterized by an enhanced expression and signaling of the proximal effectors of the pro-survival B cell receptor (BCR) pathway and elevated Bruton tyrosine kinase (BTK) phosphorylation in B-CLL cells from UGT2B17 patients. A prominent feature of B-CLL cells is the strong correlation of UGT2B17 expression with the adverse marker ZAP70 encoding a tyrosine kinase that promotes B-CLL cell survival.

Encephalic nocardiosis after mild COVID-19: A case report.

The COVID-19 pandemic and the associated post-acute sequelae of COVID-19 (PASC) have led to the identification of a complex disease phenotype that is associated with important changes in the immune system. Herein, we describe a unique case of cerebral abscess in an individual with sudden immunodeficiency several months after mild COVID-19. Intravenous Bactrim and Imipenem were prescribed for 6 weeks.

Meningoradiculitis post-COVID-19 mRNA vaccination: A case report.

We present a rare case of meningoradiculitis occurring after mRNA COVID-19 vaccination. This patient, with a history of inflammatory arthritis following rubella vaccination, presented to the emergency department 4 days after her vaccination with both central and radicular nervous system symptoms. Symptoms included pain, sensory and motor deficits in L5 roots distribution, along with signs of central irritation, such as headache, difficulty concentrating and a Babinski sign.

Ceftazidime-Induced Neurotoxicity in an 80-Year-Old Female With Renal Dysfunction: A Case Report.

Neurological toxicity is a relatively rare adverse reaction reported in elderly patients treated with cephalosporins. We present a case of ceftazidime-induced encephalopathy in the context of acute kidney injury in an 80-year-old female treated for a prosthetic joint infection. During the course of treatment, the patient developed sudden confusion and disorientation.

A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.

Background: Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI). Among the patients, some of them showed the phenotype of skeletal muscle weakness with the obvious clinical features of cardiomyopathy while others showed pure skeletal muscle weakness with no symptoms of cardiac involvement. Genotype-phenotype relationship regarding the effect of a mutation on MyHCI is complex.

A new case of spastic paraplegia type 64 due to a missense mutation in the gene.

Spastic paraplegia type 64 (SPG64; OMIM 615683) is a complicated form of hereditary spastic paraplegia (HSP) recently identified in individuals diagnosed with suspected neurodegenerative disease. Affected patients carry homozygous mutations in the ectonucleoside triphosphate diphosphohydrolase 1 gene (). Although they share common characteristics, affected individuals show slight discrepancies in some clinical aspects.