Intermittent Soft-Tissue Tumor Enlargement in Episodic Angioedema With Eosinophilia Syndrome.

ABSTRACT: Episodic hypereosinophilia and angioedema syndrome, also known as Gleich syndrome, is a rare entity characterized by recurrent episodes of eosinophilia, angioedema, urticaria, fever and weight gain with spontaneous resolution. It is classified as an idiopathic hypereosinophilic syndrome. Unlike other hypereosinophilic syndromes, it has a low risk for internal organ damage. We report the case of a 42-year-old male with a 28-year history of recurrent erythematous wheals and plaques and persistent hypereosinophilia. Physical examination revealed a well-defined subcutaneous nodule on his right lower limb that increased in size with each episode of angioedema. Histopathology evidenced a lipoma with intense eosinophil infiltration within the mature adipose tissue, while the specimen of the wheal revealed scarce perivascular and interstitial eosinophilic inflammatory infiltrate. Diagnosis of episodic angioedema with eosinophilia syndrome was made based on clinical and laboratory findings.

Basal cell nevus syndrome: an update on clinical findings.

Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is a rare autosomal dominant disorder caused by mutations in the hedgehog signaling pathway, mainly in PTCH1. This pathway is involved in embryogenesis and tumorigenesis, and the loss of function of PTCH1 protein produces an aberrant increase in the hedgehog signaling pathway activity. Basal cell nevus syndrome is characterized by tumor predisposition, particularly with the development of multiple basal cell carcinomas at an early age, along with odontogenic keratocysts, palmoplantar pits, skeletal abnormalities, and an increased risk of medulloblastoma. Diagnosis is clinical, with gene mutation analysis confirming the suspicion. The striking phenotypic variability of the syndrome may lead to a delayed diagnosis, making it an uncommon but important entity to recognize. A high index of suspicion and an early diagnosis is crucial for prevention, surveillance, and the prompt establishment of multidisciplinary medical care.

Disparities in cystic fibrosis survival in Mexico: Impact of socioeconomic status.

BACKGROUND: Median survival age in cystic fibrosis (CF) has increased in developed countries. Scarce literature exists about survival in Latin America, especially in Mexico. The aim of our study was to assess the median age of survival in CF patients and the impact of risk factors in Mexico over a 20-year period. METHODS: We conducted a retrospective study with all patients registered and followed in the CF Center in Monterrey, Mexico from 2000 to 2020. Median survival age was the primary outcome, assessed with Kaplan-Meier analysis. The influence of clinical, biological, and demographic factors on survival was analyzed with Cox regression model. RESULTS: Two-hundred five patients were included. Median survival for the cohort was 21.37 years (95% confidence interval [CI], 17.20-25.55). In the multivariate Cox regression model, low socioeconomic status (hazard ratio [HR], 4.21; 95% CI, 2.43-7.27), chronic Pseudomonas aeruginosa infection at 6 years (HR, 10.45; 95% CI, 5.66-19.28), and pancreatic insufficiency (HR, 3.13; 1.38-7.13) were independent risk factors for mortality. CONCLUSION: Median survival in Mexican patients with CF is lower than in high-income countries, and socioeconomic status plays a conspicuous role in the disparity. To increase patient survival for those residing in low-middle income countries, public health authorities must design policies that fully cover diagnosis and treatment strategies for the CF population.

Sexual Dimorphism in Children and Adolescents With Acute Lymphoblastic Leukemia: Influence on Incidence and Survival.

Acute lymphoblastic leukemia (ALL) incidence and poor prognosis are higher in male individuals. There is a lack of studies assessing the influence of sex in ALL. We documented this influence in a homogenous cohort. Three hundred three ALL Hispanic patients 1 to 20 years of age diagnosed over 10 years at a university hospital were evaluated. Patients were divided by sex and stratified by age. Survival rates were assessed by the Kaplan-Meier method, and the Cox model was used for univariate and multivariate analysis. The median age for female individuals was 6 years versus 9 years for male individuals (P=0.002). In the whole cohort, there was a male preponderance (P=0.025), with a 1.3 male-to-female ratio. For male individuals, the 5-year relapse-free survival was 46%; for female individuals, it reached 58.7%, (P=0.009). Male individuals 1-9 years of age had a lower 5-year relapse-free survival than female individuals, 51.5% versus 66.7% (95% confidence interval, 65.35-68.01; P=0.020); this was not the case for overall survival (P=0.660). The male-to-female ratio in the 10 to 15 years' group was 1.59, and 2.35 in the 16 to 20 years' group. Incidence and relapse of ALL were higher in male individuals. A skewed distribution in the 10 to 20 years' age group disproportionately affected male individuals, suggesting a hormonal influence.

Round opacity as a presentation of pneumocystis jirovecii pneumonia in an HIV-infected patient.

We present the case of a human immunodeficiency virus (HIV)-infected patient who arrived at our emergency department with fever, headache and exertional dyspnea. Throughout their stay, a chest x-ray was taken and a rounded opacity in his left lung was observed. CT images showed same abnormality and also ground glass opacities were seen. Symptoms and images strongly suggested a pulmonary infection due to pneumocystis jirovecii, however a presence of a round lesion should always lead to neoplasia being suspected. We empirically started treatment based on trimethoprim and sulfamethoxazole. Once available, flexible bronchoscopy and bronchoalveolar lavage was performed and stained preparations from his respiratory specimens confirmed the diagnosis of pulmonary pneumocystis infection. Finally, after 4 days of antibiotic therapy, an important clinical improvement was documented; a new chest x-ray was performed and the previous rounded opacity was absent. This finding strongly suggested a case of round pneumonia.

Platelet Survival in Hematology Patients Assessed by the Corrected Count Increment and Other Formulas.

OBJECTIVES: To compare the performance of the corrected count increment (CCI) and three other formulas to assess 24-hour posttransfusion platelet survival in hematology patients. METHODS: Twenty-four-hour posttransfusion platelet counts were analyzed after apheresis platelet transfusion. Platelet increment (PI), percent platelet recovery (PPR), and percentage platelet increment (PPI) were compared with CCI by receiver operating characteristic analysis. Clinical factors that influence platelet survival were assessed by logistic regression. RESULTS: In total, 142 apheresis platelet transfusions in 85 hematology patients were studied. Mean (SD) CCI at 24 hours was 11,869 (10,125). Compared with CCI, the sensitivity of other formulas ranged from 89.4% to 95.7% and specificity from 94.7% to 100%. Cutoff values were 15.7 × 103/µL for PI, 11.4% for PPR, and 17% for PPI. For ABO-compatible vs incompatible transfusions, CCI was 14,070/µL vs 9,176/µL (P = .007). Negative factors for all formulas were sepsis, hypotension, and amphotericin B. CONCLUSIONS: PI, PPR, and PPI are comparable to CCI for assessing 24-hour platelet survival.