Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome.

OBJECTIVES: To evaluate various clinical aspects, specifically regarding immune status, in a large cohort of patients with DiGeorge syndrome. STUDY DESIGN: Data were collected for 98 patients with DiGeorge syndrome treated at a tertiary medical center. This included general information, laboratory results, and clinical features. RESULTS: The median age at diagnosis was 2.0 years (range, 0.0-36.5 years). The most common symptoms that led to diagnosis were congenital heart defect, speech delay, palate anomalies, and developmental delay. Common clinical features included recurrent infections (76 patients), congenital heart diseases (61 patients), and otorhinolaryngology disorders (61 patients). Twenty patients had anemia; the incidence was relatively high among patients aged 6-59 months. Thrombocytopenia was present in 20 patients. Recurrent chest infections were significantly higher in patients with T cell and T cell subset deficiencies. Decreased T cell receptor excision circles were more common with increasing age (P < .001). Of the 27 patients hospitalized due to infection, pneumonia was a leading cause in 13. CONCLUSIONS: Awareness of DiGeorge syndrome's typical and uncommon characteristics is important to improve diagnosis, treatment, surveillance, and follow-up.

Dysthyroidism in dermato/polymyositis patients: A case-control study.

BACKGROUND: Dermatomyositis (DM) and polymyositis (PM) are two rare autoimmune disorders occasionally described with dysthyroidism; however, no solid evidence still proves such an association. AIM: To evaluate the prevalence of dysthyroidism among DM/PM patients. DESIGN AND SETTING: A nation-wide case-control study was conducted. METHODS: From the Clalit Health Services health records database, we extracted 2085 (DM = 1475 (70.7%), PM = 610 (29.3%)) PM/DM cases and 10 193 sex-age matched controls in the period 2000-2018. Both univariate and multivariate analyses were performed to evaluate the link dysthyroidism and PM/DM. Survival analysis was also performed. RESULTS: The rate of hyperthyroidism was significantly (P = .0097) higher in cases (n = 40, 1.9%) with respect to controls (n = 123, 1.2%). Similarly, the rate of hypothyroidism was significantly (P < .0001) associated with cases (n = 234, 11.2%) when compared to controls (n = 853, 8.4%). At the multivariate logistic regression analysis, both DM (OR 1.31 [95%CI 1.07-1.60], P = .0087) and PM (OR 1.54 [95%CI 1.21-1.95], P = .004) were significantly associated with hypothyroidism, whereas DM (OR 1.70 [95%CI 1.10-2.61], P = .0165) but not PM (OR 1.45 [0.83-2.55], P = .1947) was found to be associated with hyperthyroidism. Subjects with PM and positive for anti-Sjögren's syndrome-related antigen A (SSA) auto-antibody displayed a significant risk of developing hyperthyroidism (OR 5.85 [95%CI 1.02-33.74], P = .0480), whereas individuals with DM and positive for antinuclear antibody (ANA) had a higher risk of developing hyperthyroidism (OR 2.65 [95%CI 1.00-7.03], P = .0498). CONCLUSIONS: Physicians treating PM/DM patients should consider screening for thyroid dysfunction on a regular basis.

Correlations Between Core Needle Biopsy and Excisional Biopsy Findings in Suspected Breast Lesions: A Single Center Study.

BACKGROUND: When a breast lesion is suspected based on a physical exam, mammography, or ultrasound, a stereotactic core needle biopsy (CNB) is usually performed to help establish a definitive diagnosis. CNBs are far less invasive than excisional biopsies, with no need for general anesthetics or hospitalization, and no recovery period. However, since only samples of the mass are removed in a CNB and not the whole mass, sampling errors can occur. OBJECTIVES: To compare the degree of agreement between the pathological data from CNBs and excisional biopsies from a single tertiary referral hospital. METHODS: The concordance of pathological data was compared in patients who underwent CNBs and had their surgical procedures at the same medical center. RESULTS: From the 894 patients who underwent CNBs, 254 (28.4%) underwent subsequent excisional biopsies at our medical center. From the total of 894 patients, 227 (25.3%) who underwent a CNB were diagnosed with a malignancy, with the rest of the CNBs being diagnosed as benign pathologies. The pathological findings in the CNBs and in the excisional biopsies concurred in 232/254 (91.3%) of the cases. CONCLUSIONS: A CNB to confirm mammographic or clinical findings of breast lesions is an accurate method to establish a pathological diagnosis of breast lesions. The accuracy is higher for invasive carcinomas than for non-invasive cancers. Excisional biopsies are necessary for lesions with anticipated sampling errors or when the core needle biopsy findings are discordant with clinical or mammographic findings.

Orbital Fat Density as a Diagnostic Tool in Pre-Septal and Orbital Cellulitis.

PURPOSE: To evaluate the usefulness of measuring orbital fat density in identifying post-septal involvement when initial differential diagnosis between orbital and periorbital cellulitis (OC and POC) is unclear. MATERIALS AND METHODS: Retrospective study of patients with clinical diagnosis of OC or POC who underwent contrast-enhanced computerized tomographic scans over a span of 10 years. Intraconal orbital fat density was measured with Hounsfield units (HU) in six areas on axial scans consisting of nasal and temporal intraconal sites. These measurements correlated with the initial and final diagnoses. Main outcome measures were HU values at the initial and final diagnoses. RESULTS: Fifty-seven patients were included. Mean HU measurement was -52 ± 18 HU for the involved side vs. -63 ± 13 for the uninvolved side (P < .001). The values were higher in cases of a final diagnosis of OC in the involved side (P < .001). The HU values were significantly higher in the nasal vs. the temporal locations of each orbit bilaterally (P < .001). The initial POC diagnosis of 20 patients (35%) was revised to OC. CONCLUSION: Intraconal fat density measurements can assist in the primary assessment of orbital involvement in patients with an uncertain initial diagnosis, with a HU value higher than -50 is suggestive of orbital involvement.

The usefulness of [18F]FDG-PET/CT in detecting and managing cancers with unknown primary site depends on histological subtype.

We assessed the role of [18F]FDG-PET/CT in identifying and managing cancer of unknown primary site (CUP syndrome). We reviewed [18F]FDG-PET/CT scans of individuals with CUP syndrome recorded in clinical referral letters from 2012 to 2019. We evaluated the identification of primary tumor (PT) by [18F]FDG-PET/CT, according to histological subtype, and the impact on clinical management. The median age was 65 years, 36/64 males (56%). PTs were detected in 28/64 (44%) patients. Detection was significantly lower in patients with squamous cell carcinoma (SCC) than with other histologies combined, p = 0.034. Mean age, mean SUVmax (10.6 ± 6.0) and organ involvement were similar between patients with and without discovered PTs; and between patients with SCC and with other histologies combined. However, those with SCC were less likely than the others to present with multi-lesion involvement, p < 0.001. [18F]FDG-PET/CT interpretations apparently affected treatment of 8/28 (29%) patients with PT detected, and in none of the 35 whose PT was not discovered, p < 0.001. [18F]FDG-PET/CT appeared helpful in detecting PT in almost half the patients with CUP syndrome; the lowest rate was for patients with SCC pathology. PET/CT showed limited overall value in guiding clinical management, however benefited those with discovered PT.

PET/CT in breast cancer staging is useful for evaluation of axillary lymph node and distant metastases.

INTRODUCTION: Breast cancer outcome is dependent on disease stage. The aim of the study was to assess the role of PET/CT in the evaluation of axillary lymph node and distant metastases in women with newly diagnosed primary breast cancer. MATERIALS AND METHODS: We assessed, among patients with newly diagnosed primary breast cancer, associations of [18F] fluorodeoxyglucose (FDG) uptake (maximum standardized uptake value [SUVmax]) with clinical variables of the primary tumor, including regional nodal status and the presence of distant metastases. RESULTS: Of 324 patients, 265 (81.8%) had focal uptake of FDG that corresponded with the cancerous lesion, and 21 (6.5%) had no FDG-avid findings. The remaining 38 patients had diffuse or nonspecific uptake of FDG. Among patients with a focal uptake of FDG (n = 265), the mean tumor size was 2.6 ± 1.9 (range 0.5-13.5), and the mean SUVmax was 5.3 ± 4.9 (range 1.2-25.0). In 83 patients (25.6%), PET/CT demonstrated additional suspected foci in the same breast. FDG-avid lymphadenopathy was observed in 156 patients (48.1%). Further assessment of lymph node involvement was available for 55/156 patients (axillary lymph node dissection [n = 21]; core needle biopsy [n = 34]) and confirmed axillary lymph node metastases in 47 (85.5%)). Thirteen patients (4.0%) had FDG-avid supraclavicular lymph nodes and six (1.9%) had FDG-avid internal mammary lymph nodes. Distant FDG-avid lesions were detected in 33 patients (10.2%). CONCLUSION: PET/CT is a useful diagnostic tool for staging breast cancer patients, but its use should be limited to specific clinical situations; further evaluation is needed.

Epilepsy as a Comorbidity in Polymyositis and Dermatomyositis-A Cross-Sectional Study.

Polymyositis (PM) and dermatomyositis (DM) are autoimmune-mediated multisystemic myopathies, characterized mainly by proximal muscle weakness. A connection between epilepsy and PM/DM has not been reported previously. Our study aim is to evaluate this association. A case-control study was conducted, enrolling a total of 12,278 patients with 2085 cases (17.0%) and 10,193 subjects in the control group (83.0%). Student's t-test was used to evaluate continuous variables, while the chi-square test was applied for the distribution of categorical variables. Log-rank test, Kaplan-Meier curves and multivariate Cox proportional hazards method were performed for the analysis regarding survival. Of the studied 2085 cases, 1475 subjects (70.7%) were diagnosed with DM, and 610 patients (29.3%) with PM. Participants enrolled as cases had a significantly higher rate of epilepsy (n = 48 [2.3%]) as compared to controls (n = 141 [1.4%], p < 0.0005). Using multivariable logistic regression analysis, PM was found only to be significantly associated with epilepsy (OR 2.2 [95%CI 1.36 to 3.55], p = 0.0014), whereas a non-significant positive trend was noted in DM (OR 1.51 [95%CI 0.99 to 2.30], p = 0.0547). Our data suggest that PM is associated with a higher rate of epilepsy compared to controls. Physicians should be aware of this comorbidity in patients with immune-mediated myopathies.

PET/CT in Disease Detection and Follow-up of Subcutaneous Involvement in Marginal Zone Lymphoma.

BACKGROUND: The value of positron emission tomography/computed tomography (PET/CT) in the staging and assessment of treatment response in marginal zone lymphoma (MZL) lymphomas remains controversial. We investigated radiologic characteristics of subcutaneous MZL as imaged on PET/CT scans. PATIENTS AND METHODS: From the records of a single medical center, for the years 2008 and 2017, we identified subcutaneous lesions in PET/CT scans of patients with histopathologically confirmed MZL in sites other than subcutaneous tissue. RESULTS: Of 571 scans of 178 patients, subcutaneous lesions were found in 20 (11%). Lesions were located in soft tissue structures, mainly along the lateral aspects of the buttocks, thighs and lower and upper back areas, the flank, and the shoulders. Median lengths of the long and short axes of the lesions were 2.0 (range, 1.1-6.0) cm and 0.8 (range, 0.3-2.0) cm, respectively. Median standardized maximum uptake value was 2.3 (range, 0.9-7.6). In 12 patients (60%), MZL was diagnosed at an early stage; 15 (75%) had lymph node involvement and 10 (50%) extranodal involvement. One had spleen and 2 had cutaneous involvement; none had gastric findings. CONCLUSION: The findings of this study support the usefulness of PET/CT in the detection of subcutaneous MZL as well as in staging and treatment decisions.

Low rate of spleen involvement in sporadic Burkitt lymphoma at staging on PET-CT.

BACKGROUND: Burkitt lymphoma is a highly aggressive B cell non-Hodgkin lymphoma. Cross-sectional imaging techniques that are used to detect liver and spleen involvement by lymphoma have high rates of false negative and false positive findings, and as such may reduce the accuracy of staging. PURPOSE: This retrospective study evaluated the use of FDG PET-CT in determining splenic involvement at staging, in a relatively large cohort of adult patients with the sporadic form of Burkitt lymphoma (SBL). PATIENTS AND METHODS: All adult patients who underwent FDG PET-CT for staging of SBL at one medical center during 2005-2014 were enrolled for this retrospective study. RESULTS: Data were analyzed of 20 patients, with median age 49 years; 17 were male. PET-CT revealed highly intense FDG uptake, mean SUV max 11.4 ± 7.49 (range 4.3-38) in various tissues. None of the 20 patients had either focal or diffuse increased uptake of FDG in the spleen parenchyma. In 2 patients, there were highly FDG-avid soft tissue masses adjacent to the spleen, both in the context of direct peritoneal disease extension. CONCLUSION: The spleen is rarely involved in SBL at the time of staging, according to PET-CT, except in cases with direct extension from adjacent peritoneal mass. The low rate of spleen involvement according to PET-CT may serve as a specific characteristic of SBL. Larger-scale clinical studies incorporating PET-CT scans in SBL are needed to confirm our observation.