Hyper IgE syndrome-related disease treated with dupilumab: A case report.

Phosphoglucomutase 3 (PGM3) catalyzes the glycosylation of immune system precursor proteins. Its impairment leads to severe infections and other developmental, musculoskeletal, and nervous system defects. We present a case of a 2-month-old female patient with recurrent infections and diffuse eczematous dermatitis recalcitrant to corticosteroids. A next-generation sequencing NGS gene panel for inherited immune dysfunction syndromes revealed multiple variants of unknown significance in key immune regulators, specifically heterozygous mutation c.337C⟩G (p.Pro113Ala) on exon 4 of PGM3 as a novel variant in the PGM3 associated diseases. Off-label use of dupilumab resulted in rapid improvement.

Three-Dimensional Cardiac Imaging: A Necessity to the Diagnosis and Treatment of Swiss-Cheese Atrial Septal Defect.

Swiss-cheese atrial septal defect (ASD) is a malformation characterized by multi-fenestrated interatrial defects. Here, we describe a vignette of a 23-year-old man with Swiss-Cheese ASD characterized by two defects with areas of 0.74 cm2 and 0.44 cm2, complicated with an atrial septal aneurysm successfully repaired with a cribriform amplatzer septal occluder (ASO) via the percutaneous transcatheter approach. This case emphasizes the importance of attaining a clear view of three-dimensional structures for proper device selection and deployment in repair as additional structural defects such as concomitant aneurysms impose significant challenges.

Endophthalmitis as the initial manifestation of invasive fusariosis in an allogeneic stem cell transplant patient: A case report.

Fusarium species manifests as an opportunistic infection with intrinsic resistance to most antifungals. We present a case of a 63-year-old male with myelodysplasia who received allogeneic stem cell transplantation and presented with endophthalmitis as the initial manifestation of invasive fusariosis that progressed to a fatal outcome despite combined intravitreal and systemic antifungal therapies. We urge clinicians to consider this complication of fusarium infection especially with the widespread use of antifungal prophylaxis that may incur selection of more resistant, invasive fungal species.

Impact of Virtual Seminars on Hepatitis B Knowledge and Attitudes Among Preclinical-Year Medical Students.

Background A limited understanding of hepatitis B virus (HBV) disease transmission contributes to fear of routine contact and can stigmatize affected individuals. To reduce potential HBV-related discrimination, there is a need to increase awareness among medical students on HBV knowledge and transmission. We aimed to assess the impact of virtual education seminars on first- and second-year medical students' understanding of HBV and their attitudes toward HBV infection. Methods Pre- and post-seminar surveys were designed and administered to first- and second-year medical students in the February and August 2021 virtual HBV seminars to assess basic knowledge and attitudes toward HBV infection. The seminars consisted of a lecture on HBV followed by case study discussions. Paired samples t-test and McNemar's test for paired proportional differences were used for analysis. Results This study included 24 first-year and 16 second-year medical students who completed both pre- and post-seminar surveys. After attending the seminar, participants demonstrated an increase in correct responses to transmission modes including vertical transmission (p≤0.001) and sharing razors or toothbrushes (p=0.031) rather than sharing utensils or shaking hands (p<0.01). Using 5-point Likert means, improved attitudes were observed in concerns of shaking hands or hugging (pre=2.4, post=1.3, p<0.001) and caring for someone with infection (pre=1.55, post=1.18, p=0.009), and acceptance of an HBV-infected coworker in the same workplace (pre = 4.13, post= 4.78, p<0.001). Conclusion The virtual education seminars clarify misconceptions about transmission and bias towards individuals with HBV infection. Implementation of educational seminars in medical students' training is important to improve overall knowledge of HBV infection.

The Triad of Legionnaires' Disease, Rhabdomyolysis, and Acute Kidney Injury: A Case Report.

BACKGROUND Legionella infection is a common cause of atypical pneumonia, known as Legionnaires' disease when infection extends to extrapulmonary involvement, which often leads to hospitalization. The triad of Legionella pneumonia, rhabdomyolysis, and renal failure displays a rare yet fatal complication without prompt management. CASE REPORT Our patient was a 62-year-old man with no significant medical history who developed Legionnaires' disease with severely elevated creatinine phosphokinase (CPK) of 9614 mcg/L, consistent with rhabdomyolysis. He experienced severe headache, anorexia, and hematuria, which prompted him to seek medical care. Pertinent social history included recent flooding in his neighborhood, which surrounded the outer perimeter of his home. His clinical manifestations and laboratory findings were consistent with Legionella infection, with concomitant acute kidney injury. A chest X-ray revealed hazy left perihilar opacities concerning for atypical pneumonia. Immediate interventions of hydration and antigen-directed azithromycin were initiated to prevent rapid decompensation. His clinical symptoms resolved without further complications, and he was not transferred to the Intensive Care Unit (ICU). CONCLUSIONS Legionella-induced rhabdomyolysis is an uncommon association that can lead to acute kidney failure and rapid clinical deterioration. Early and aggressive management with fluid repletion and appropriate antibiotics can improve clinical manifestations and hospital length of stay. Our patient's reduction in CPK levels and clinical improvement confirmed that extrapulmonary involvement in Legionella infection can lead to rhabdomyolysis. It is important for healthcare providers to recognize the clinical triad of Legionella pneumonia, rhabdomyolysis, and renal failure as prompt and timely management to reduce associated morbidity.

Melanoma developing in a nevoid melanocytoma with myxoid changes: a case report.

Nevoid and myxoid melanoma are rare variants of melanoma; association of the two is a unique finding. Nevoid melanoma is characterized by morphologic resemblance to a nevus, whereas myxoid melanoma demonstrates a basophilic mucinous matrix. We present an atypical case of a melanoma progressing from a nevoid melanocytoma with myxoid changes. A 78-year-old female presented with a pigmented growth on her right thigh. Biopsy demonstrated a biphenotypic melanocytic proliferation composed of a nodule showing epithelioid melanocytes with enlarged nuclei, prominent nucleoli, lack of maturation, and abundant amphophilic cytoplasm with a rare mitotic figure. These findings were suggestive of melanoma along with a nevoid dermal component and myxoid stroma. FISH testing revealed a homozygous loss of 9p21 in the atypical component. SNP-microarray from the nevoid component demonstrated three abnormalities including a gain of whole chromosome 8, as well as loss of a copy of nearly an entire chromosome 9 and 16q most consistent with a melanocytoma.

Phentermine-Associated Atrial Fibrillation: A Case Report and Literature Review.

Obesity has become a major public health problem with increased prevalence and is associated with cardiovascular mortality. Phentermine is approved for short-term obesity treatment in conjunction with lifestyle modifications. Palpitations are a well-documented side effect of phentermine, but atrial fibrillation (AF) is rarely reported. We present a case of new-onset AF in a healthy woman who had been recently started on phentermine for weight loss. LEARNING POINTS: Atrial fibrillation usually occurs secondary to intrinsic disorders such as hypertension, coronary artery disease, abnormal heart valves, thyroid dysfunction and medication side effects.Phentermine is used for a short period together with diet and exercise to treat obesity; atrial fibrillation is an unusual cardiovascular side effect of phentermine that warrants clinician caution.The importance of medication reconciliation is exemplified in this case as it is essential to rule out secondary causes of atrial fibrillation, including medication side effects.

Midface Including Le Fort Level Injuries.

Le Fort fractures occur at uniform weak areas in the midface often due to blunt impact to the face. Sporting injuries are a common cause of facial trauma; however, use of protective equipment has reduced the number of sports-related injuries. All patients with traumatic injuries should be evaluated using Advanced Trauma Life Support protocol. Le Fort fractures can contribute to airway obstruction, and urgent intubation may be indicated. Surgery is indicated for most displaced Le Fort fractures to restore function and facial harmony. To facilitate reduction, the original occlusive relationship should be restored by placing the patient in MMF.

Multidisciplinary Management of Legionella Disease in Immunocompromised Patients.

Legionella pneumonia is a gram-negative bacterial infection commonly associated with aerosol transmission from contaminated water sources. Impaired immunity leads to delayed clearance of infection and further predisposes individuals with Legionella pneumonia at risk of developing complications. We present a case report on a renal transplant patient with comorbid cardiac and renal dysfunction who developed community-acquired Legionella pneumonia. The case emphasizes the importance of adopting a multidisciplinary approach when managing Legionella infection in patients with multiple comorbidities and immunosuppressive states.