Two different presentations of de novo variants of CSNK2B: two case reports

Background Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. Objective To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases. Case report Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly. Conclusion This report suggest that the CSNK2B gene may be involved in the physiopathology of neurodevelopmental disorders and variable dysmorphic features.

Modified autotransplantation technique for surgical resection of complex pericardial synovial sarcoma

Technical details for complex cardiac tumor resection are sparse. We describe the operative technique of modified autotransplantation for resection of a complex pericardial synovial sarcoma in a 63-year-old, Caucasian female. Surgical exposure demonstrated tumor origin at the superior cavoatrial junction and invasion of the aorta, main pulmonary artery, superior pulmonary veins, and left atrial roof. Full macroscopic surgical resection was achieved. The patient received adjuvant radiation for microscopic positive margins and remains alive and with no tumor progression at one year postoperatively. We conclude that modified autotransplantation is a challenging but effective surgical technique when performed with careful patient selection and availability of skilled, cardiothoracic surgeons at a cardiac center of excellence.

Diabetic Foot Osteomyelitis Caused by Francisella Tularensis

Purpose: A rare patient case of a diabetic foot osteomyelitis caused by Francisella tularensis is presented. Summary: A 69-year-old Caucasian female was admitted for the treatment of diabetic foot osteomyelitis. Her past medical history included type II diabetes mellitus, hypertension, chronic kidney disease, coronary artery disease, hypothyroidism, hyperuricemia and thyroidectomy. Empiric antimicrobial therapy consisting of clindamycin 600mg i.v. every 8hrs and impanel/cilastatin 200 mg i.v. every 6hrs hours was initiated immediately after admission. During her hospitalization, a pus sample from the infection site was taken for culture which showed a gram negative microorganism: Francisella tularensis. The strain was resistant to all the antibiotics tested with the exception of ciprofloxacin, ofloxacin, gentamicin, ceftazidime, cefepime, piperacillin/tazobactam and colistin. After culture results, the treatment regimen was changed to piperacillin/tazobactam 4.5g i.v. every 12hrs and ciprofloxacin 400mg i.v. every 12hrs. The patient continued to receive both antibiotics during hospitalization for 9 days with noted clinical improvement. The patient was discharged on piperacillin/tazobactam 4.5g i.v. every 12hrs and oral ciprofloxacin 500mg every 12hrs to complete a total duration of 6 weeks. Conclusion: This is the first reported case of a diabetic foot osteomyelitis caused by Francisella tularensis.

Recreational Screen Time Use among a Small Sample of Canadians during the First Six Months of the COVID-19 Pandemic

(1) Background: The coronavirus (COVID-19) pandemic has caused disruptions in the daily lives of individuals in Canada. Purpose: Examine how total and specific (i.e., watching television, using social media, going on the Internet, playing video games, and engaging in virtual social connection) recreational screen time behaviours changed throughout the first six months of the COVID-19 pandemic, in comparison to pre-pandemic levels; (2) Methods: Sixty four Canadians (mostly Caucasian, female, age range = 21–77 years) completed monthly surveys from April to September of 2020; (3) Results: A one-way repeated measures analysis of variance (RM-ANOVA) and subsequent post hoc analysis revealed that total recreational screen time was statistically higher in late March/April (292.5 min/day ± 143.0) and into May, compared to pre-COVID-19 (187.8 min/day ± 118.3), before declining in subsequent months; (4) Conclusions: Generally, specific recreational screen time behaviours, such as time spent watching television, followed the same trend. Future studies with larger sample sizes and from other countries examining recreational screen time behaviours longitudinally over the pandemic are still needed to allow for greater generalizability.

Rectosigmoid endometriosis: diagnostic pitfalls and management – A case report

Endometriosis constitutes a benign condition, occurring in 10-12% of menstruating women. Bowel involvement is estimated to occur in 5-12% with the rectosigmoid region involved in up to 90% of these cases. We present the case of a 45-year-old Caucasian female patient with rectosigmoid endometriosis.

Roseomonas mucosa-Induced Peritonitis in a Patient Undergoing Continuous Cycler Peritoneal Dialysis: Case Report and Literature Analysis

Roseomonas species, a rare Gram-negative microorganism, has seldom been reported to cause peritonitis in end-stage renal disease patients on peritoneal dialysis. Only seven cases of peritonitis by this rare microorganism have been reported worldwide. Treatment options can be challenging if not detected early and can lead to significant morbidity and mortality along with the switching of the dialysis modality to hemodialysis which is highly undesirable. Our patient is a 65-year-old Caucasian female who needed to be changed to emergency hemodialysis due to inability to perform peritoneal dialysis from suspected peritonitis and was subsequently discovered to have peritonitis from Roseomonas mucosa. She recovered with a prolonged antibiotics course and returned to peritoneal dialysis in 3 months following her treatment completion. Prompt diagnosis and prolonged antibiotics are a cornerstone in the management of this rare microorganism to prevent mortality and morbidity from peritonitis.

A strange case of melanoma: An (in)visible enemy

We report the case of a 91-year-old Caucasian female patient who came to our attention due to the appearance of a 10 X 15 cm plaque with irregular margins, with mammary appearance, strongly and variably pigmented, localized on the right hemiface after about 8 weeks. Dermoscopic examination showed an aspecific pattern characterised by the presence of a variously pigmented background, with the presence of a blue-grey veil and overlapping of serum-hematous crusts.