Histopathologic Changes of the Esophagus in Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy (DMD) is characterized by progressive systemic muscle wasting, leading to respiratory paralysis and early death. This X-linked disease is caused by DMD mutations, encoding dystrophin.1 There is little information regarding gastrointestinal abnormalities in patients with DMD. However, since the esophageal wall includes smooth and skeletal muscle it is also vulnerable to suffering the effects of muscle wasting in patients with DMD. After finding dyskeratosis and parakeratosis restricted to the proximal and middle esophagus with distal sparing in an 18-year-old patient with DMD, we performed an archive search of a large academic hospital and identified four additional patients with DMD who had also undergone esophageal biopsy. The patients consisted of five boys, ranging from 7 to 19 years of age. Esophageal injury was present in two patients, consisting of mild esophagitis in one, and spongiosis with dyskeratosis and parakeratosis in another. These patients were both older and had been diagnosed with DMD for greater than 15 years, while the three patients with histologically normal biopsies were younger and been diagnosed with DMD for 7, 9, and 13 years, respectively. Although the data is limited and the changes are subtle, they can be explained by the underlying muscular dystrophy pathophysiology.

The diagnostic accuracy and prognostic implication of pelvic and peritoneal fluid cytology specimens in ovarian clear cell carcinoma.

INTRODUCTION: Ovarian clear cell carcinoma (OCCC) is a rare subtype of ovarian epithelial carcinoma. Patients with low-stage disease have an excellent prognosis, while the prognosis for those with high-stage disease is poor. Neoplastic cells in abdominopelvic washings upstages the patient to at least FIGO 1C3. Positive cytology confers a worse prognosis when compared to similar stage patients with negative cytology. This study aims to investigate the diagnostic performance of abdominopelvic fluid cytology specimens in cases with pure OCCC and reaffirm the importance of accurate cytologic detection and its impact on patient prognosis. MATERIALS AND METHODS: The laboratory information system was queried to identify all patients treated for ovarian clear cell carcinoma at our institution over a period of 20 years with a companion abdominopelvic fluid cytology specimen at the time of surgical resection. Cases were sorted by the FIGO stage of the corresponding oophorectomy specimen. Cytology results, patient demographics, fluid volume, immunohistochemical results, and follow-up data were recorded. RESULTS: A total of 143 cases were identified. The overall detection rate was 38%, with 54 of 143 cases positive for malignancy. Cytologic detection rates increased as FIGO stages increased. Fifty percent of stage 1C cases were upstaged on cytology alone. Ascites fluids performed better among stage 1 cases compared to pelvic wash specimens (77% detection rate versus 23%). Stage 1 patients with positive cytology trended towards a worse prognosis compared to those with negative cytology. CONCLUSIONS: Positive cytology in low stage cases of OCCC has significant prognostic and therapeutic implications. Our large cohort further underscores the importance of accurate cytologic detection and subsequent staging in this setting.

Is fair representation good for children? effects of electoral partisan bias in state legislatures on policies affecting children's health and well-being.

Increasing evidence suggests that state policies impact constituents' health, but political determinants of health and health inequities remain understudied. Using state and year fixed-effects models, we determined the extent to which changes in electoral partisan bias in lower chambers of U.S. state legislatures (i.e., discrepancy between statewide vote share and seat share) were followed by changes in five state policies affecting children and families (1980-2019) and a composite of safety net programs (1999-2018). We examined effects on each policy and whether the effect was modified when bias was accompanied by unified party control. Next, we determined whether the effect differed depending on which party it favored. Less bias resulted only in higher AFDC/TANF benefits. Both pro-Democratic and pro-Republican bias was followed by decreased AFDC/TANF benefits and increased Medicaid benefits. AFDC/TANF recipients, unemployment benefits, minimum wage, and pre-K-12 education spending increased following pro-Democratic bias and decreased following pro-Republican bias. Estimated effects on the composite measure of safety net policies were all close to null. Some effects were modulated by unified party control. Results demonstrate that increasing fairness in elections is not a panacea by itself for increasing generosity of programs affecting children's well-being. Indeed, bias can be somewhat beneficial for the expansiveness of some policies. Furthermore, with the exception of unemployment benefits and AFDC/TANF recipients, Democrats have not been using the additional power that comes with electoral bias to spend more on major programs that benefit children. Finally, after decades in which electoral bias was in Democrats' favor, bias has started to shift toward Republicans in the last decade. This trend forecasts more cuts in almost all the policies in this study, especially education and AFDC/TANF recipients. There is a need for more research and advocacy emphasis on the political determinants of social determinants of health, especially at the state level.

Cytopathologic diagnosis of extragonadal germ cell tumors: A 10-year institutional review.

BACKGROUND: The occurrence of extragonadal germ cell tumors (EGGCTs), either as primary tumors or metastatic disease, is rare. Forms of cytologic sampling, including fluid analysis, fine-needle aspiration, and/or small-core needle biopsy, have been shown to be reliable methods for the diagnosis of germ cell tumors. This study aims to investigate the utility of cytopathologic techniques in the diagnosis of EGGCTs at the authors' institution. METHODS: The laboratory information system was queried over a period of 10 years (2012-2022) to identify all cytology cases diagnosed on fluid cytology, FNA, and/or small-core biopsy as germ cell tumors in extragonadal locations. Patient demographics, tumor location, serum tumor marker levels, cytopathologic diagnosis, and follow-up surgical resection data were reviewed and correlated. RESULTS: A total of 35 cases from 32 patients (all males) were identified. Thirty specimens contained satisfactory material for diagnosis (86%) and five were less than optimal for evaluation (14%). Despite this, all cases had clinically useful cytopathologic diagnoses. A total of 19 cytology cases (16 patients) had follow-up resection specimens available. Of these, 11 patients underwent preoperative chemotherapy. Nine patients showed no evidence of residual tumor and two showed histologic concordance. Of the five patients who did not have preoperative chemotherapy, all showed concordant histologic diagnoses. CONCLUSIONS: Cytology can provide a reliable, accurate method for diagnosing EGGCTs. The practice of preoperative (neoadjuvant) chemotherapy places an extreme importance on the initial cytopathologic diagnosis because the majority of patients with follow-up resection in this series showed no residual tumor.

Thoracic SMARCA4-deficient undifferentiated tumor with associated granulomatous reaction and response to pembrolizumab.

Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare entity that was recently described in the current World Health Organization Classification of Tumors. These lesions are highly aggressive with dismal prognosis, and most patients present with metastasis at the time of diagnosis. While there are about 100 cases of SMARCA4-UT described in the literature, there are only few existing reports that describe the cytomorphology of these lesions. We present a patient with masses involving the mediastinum, right lung, right supraclavicular lymph node and right adrenal gland. Subsequent core-needle biopsy of the right supraclavicular lymph node showed epithelioid to pleomorphic tumor cells with prominent nucleoli and associated granulomatous inflammation. The tumor cells were positive for CD34 and synaptophysin, and were negative for cytokeratins. SMARCA4 and SMARCA2 both showed loss of expression, which led to the diagnosis of SMARCA4-UT. The patient underwent treatment with pembrolizumab (PD-1 blocker), carboplatin, etoposide, and radiotherapy, resulting in an almost 55% reduction in the size of the primary tumor. Our case illustrates that an associated granulomatous inflammation might be an uncommon presentation of an already rare malignancy, and awareness of this phenomenon would prevent from mistaking SMARCA4-UT for other more well-known entities that can present with granulomas.