Pulmonary Lymphangioleiomyomatosis: A Case Report and Literature Review.

Pulmonary lymphangioleiomyomatosis (LAM) is a rare lung disease characterized by diffuse cystic changes caused by a destructive proliferation of smooth muscle-like cells or LAM cells. It is a part of the perivascular epithelioid cell family of tumors. LAM may be associated with the genetic disorder tuberous sclerosis complex or may occur sporadically. Individuals affected by LAM are typically females of child-bearing age who present with recurrent spontaneous pneumothorax. The microscopic findings can be subtle and careful examination is needed to identify the neoplastic cells of LAM. Immunohistochemical markers in cases of LAM demonstrate a characteristic co-expression of myogenic and melanocytic markers. We report a case of a 41-year-old woman who presented with multiple episodes of spontaneous pneumothorax and microscopic findings characteristic of LAM.

Cryptogenic Organizing Pneumonia with a Rare Radiographic Presentation of a Diffuse Micronodular Pattern Mimicking Miliary Lung Infiltration: A Case Report and Review of the Literature.

We reported a case of cryptogenic organizing pneumonia (COP) presenting with an unusual diffuse micronodular pattern (DMP) mimicking miliary lung infiltration. The patient is a 66-year-old man with a past medical history of diabetes mellitus type 2 and hyperlipidemia who presented with progressive dyspnea associated with significant weight loss and night sweats for 2 weeks. Upon admission, the patient's clinical condition rapidly progressed to respiratory failure requiring mechanical ventilation. Initial Chest X-ray (CXR) showed diffuse reticulonodular infiltration mimicking miliary pattern. Chest computed tomography (CT) showed diffuse centrilobular micronodular infiltrations with features of a tree-in-bud pattern consistent with the CXR findings. He was then started on empiric antibiotics for community-acquired pneumonia and underwent a diagnostic bronchoscopy with alveolar lavage and transbronchial biopsies, which yielded negative cultures and unrevealing pathology. Tissue from CT-guided lung biopsy performed later on was also inconclusive. Due to the lack of clinical improvement, he eventually underwent surgical lung biopsy. The pathology result showed organizing pneumonia (OP) pattern with heavy lymphoplasmacytic infiltrates and numerous multinucleated giant cells. His final culture results, microbiological data and serology workup for autoimmune disease were all unremarkable. The patient was diagnosed with COP and was started on systemic corticosteroids. He displayed dramatic clinical improvement and was successfully liberated from the ventilator. Subsequent chest imaging showed resolution of the reticulonodular infiltrations. Early diagnosis for OP and ability to distinguish OP from infectious pneumonitides are critical as the majority of patients with OP respond promptly to corticosteroids. Common findings of radiographic pattern for OP are patchy air space consolidation or ground-glass opacity, yet DMP is another rare radiographic pattern that must be recognized, especially in COP. In summary, this case illustrates a rare radiographic presentation of COP. With early recognition and prompt diagnosis, proper treatment can significantly prevent morbidity and reduce mortality.

Pulmonary Coccidioidomycosis Mimicking Aspergillosis Fungus Ball.

The genus Coccidioides is composed of C. immitis and C. posadasii. Both can cause coccidioidomycosis and are geographically restricted to certain areas of endemicity. The histopathologic features in pulmonary coccidioidomycosis include necrotizing granulomatous inflammation and the presence of spherules, which is considered to be a key diagnostic finding. Cavitary lung disease containing a fungal ball with branching septate hyphae is an unusual funding in pulmonary coccidioidomycosis but is typical for aspergillosis. We present a case of 42 year old man who underwent wedge resection of the lung for a persistent cavitary lesion. The microscopic examination shows a fungal ball composed of acute-angle branching septate hyphae, consistent with a diagnosis of aspergillosis. However, cultures and molecular testing by DNA sequencing of the 28S ribosomal DNA gene confirmed the identification of C. posadasii. This finding highlights the importance of exposure history and organism identification by either conventional cultivation or molecular testing in rendering an accurate diagnosis.

Lymphocytic Myocarditis and Cardiogenic Shock in Hawai'i: A Case Series.

Lymphocytic myocarditis is an inflammatory disease of the heart that may present in a myriad of fashions ranging from mild febrile illness to florid myocarditis and cardiogenic shock. Given its nonspecific clinical presentation, the diagnosis of lymphocytic myocarditis is often challenging. The authors describe four cases of lymphocytic myocarditis in young women who presented with cardiogenic shock. Two patients survived and two died. This presentation has not been seen previously in Hawai'i and the public awareness of this condition is critical. Early diagnosis and the prompt initiation of biventricular mechanical circulatory support appear to have been critical in improving patient survival.

Myocardial Infarction in the Neonate Without Coronary Artery Occlusion and Structurally Normal Heart: A Report of 2 Cases in Twin Pregnancies and Review of the Literature.

Myocardial infarction (MI) is a common diagnosis in the adult population and is associated with coronary artery atherosclerosis. However, it is an unusual diagnosis in the pediatric population, especially in the neonatal period. The authors present 2 autopsy cases of MI in newborn babies of twin pregnancies with normal heart and coronary arteries. The first case is that of a 10-day-old female, monochorionic-diamniotic, twin B born at 29 weeks' gestation. The autopsy revealed diffuse subacute MI in both ventricles, which was compatible with a global hypoxic event during perinatal period. The hypoxic insult was likely caused by maternal HELLP (hemolysis, elevated liver enzymes, low platelet count) syndrome as evident in the placental examination, which showed placental infarct and decidual arteriopathy. The second case is that of a 2-day-old term male, dichorionic-diamniotic, twin A with an antenatal history of prolonged rupture of membranes. The hospital course was complicated by neonatal sepsis. The autopsy showed diffuse hemorrhage in the internal organs including the heart, along with myocyte necrosis. The overall findings were consistent with multiorgan dysfunction syndrome resulting from sepsis. Previous reported cases of MI in neonates without coronary artery occlusion were also reviewed and portrayed.

Reaffirming the Value of the Autopsy.

OBJECTIVES: To determine characteristic features of myocardial infarction (MI) diagnosed at autopsy and establish the incidence of discrepancy. METHODS: Autopsy cases at a tertiary hospital with a pathologic diagnosis of acute MI were evaluated for clinicopathologic features. Modified Goldman's classification was used to classify discrepant cases. RESULTS: Of 529 autopsy cases, 19 (3.6%) demonstrated acute/subacute MI as a pathologic diagnosis. Thrombosis was identified in a minority of cases (3/19, 15.8%). Major clinicopathologic discrepancies were identified in four (21.1%) cases. CONCLUSIONS: Although acute MI is an uncommon diagnosis rendered at hospital autopsy, a notable subset of cases demonstrates diagnostic discrepancy between the clinical impression and ultimate pathologic diagnosis. Interestingly, most MI cases in this series are not related to plaque disruption and thus best classified as a type 2 MI, which is associated with imbalance between oxygen demand and supply.

Low grade intracranial meningioma presenting with pulmonary metastasis: Case report and literature review.

Meningioma is a common neoplasm in the central nervous system. Even though most meningiomas tend to have a benign, indolent clinical course, metastasis can occur. We describe a case of a 59-year-old woman who presented with an incidental finding of multiple lung masses. The patient underwent a wedge lung excision, and a diagnosis of meningioma was rendered. Magnetic resonance imaging of the brain revealed an extra-axial mass with left transverse venous sinus involvement, supporting the diagnosis of metastatic meningioma to the lung. Metastatic meningioma can be a challenging diagnosis in a patient with no previous diagnosis of an intracranial lesion. Thus, it should be considered in the differential diagnosis when encountering a spindled cell proliferation with a whorled pattern and psammoma bodies. Positive immunohistochemical staining with epithelial membrane antigen (EMA) and vimentin may be helpful in achieving the diagnosis.

Pulmonary Lymphoepithelioma-like Carcinoma.

Pulmonary lymphoepithelioma-like carcinoma is a rare type of non-small cell lung cancer. The tumor is usually discovered in young, nonsmoking Asian populations. The patients are diagnosed at an earlier stage and have a better prognosis than those with other non-small cell lung cancers. Histologically, the tumor morphology is indistinguishable from undifferentiated carcinoma of the nasopharynx. It is characterized by nests or diffuse sheets of syncytial tumor cells, which show round to oval vesicular nuclei with prominent nucleoli, along with an admixed heavy lymphocytic and plasma cell infiltrate. The presence of Epstein-Barr virus in the tumor cells is crucial for the diagnosis. The differential diagnoses include lymphoepithelioma-like carcinoma from other sites and pulmonary involvement of lymphoma. EGFR mutations and ALK rearrangements are not commonly found in lymphoepithelioma-like carcinoma, in contrast to programmed death ligand-1 expression, which is shown in a majority of cases.

Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

INTRODUCTION: Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims. MATERIALS AND METHODS: A detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015. The coding sequences of 98 SUDS-related genes were sequenced using WES. Potentially causative variants were filtered based on the variant functions annotated in the dbNSFP database. Variants with inconclusive clinical significance evidence in ClinVar were resolved with a variant prediction algorithm, metaSVM, and the frequency data of the variants found in public databases, such as the 1000 Genome Project, ESP6500 project, and the Exome Aggregation Consortium (ExAc) project. RESULTS: Combining both autopsy and molecular autopsy enabled the potential identification of cause of death in 81% of the cases. Among the 25 victims with WES data, 72% (18/25) were found to have potentially causative SUDS mutations. The majority of the victims had at a mutation in the TTN gene (8/18 = 44%), and only one victim had an SCN5A mutation. CONCLUSIONS: WES can help to identify the genetic causes in victims of SUDS and may help to further guide investigations into their relatives to prevent additional SUDS victims.

Expression of importin-α isoforms in human nasal mucosa: implication for adaptation of avian influenza A viruses to human host.

BACKGROUND: Transportation into the host cell nucleus is crucial for replication and transcription of influenza virus. The classical nuclear import is regulated by specific cellular factor, importin-α. Seven isoforms of importin-α have been identified in human. The preference of importin-α3 of avian influenza virus and -α7 isoform of human strains during replication in human cells was previously identified. In addition, both avian and human influenza viruses were shown to use importin-α1 isoform for their replication. FINDING: The mRNA levels of importin-α1, -α3, and -α7 isoforms in human respiratory tract was determined by real-time RT-PCR. The results indicate that mRNA level of importin-α7 was significantly higher than that of importin-α1 (p-value < 0.0001) and importin-α3 (p-value < 0.0001) isoforms in human nasal mucosa while importin-α1 was detected as the highest expression importin-α isoform in lung tissues. CONCLUSIONS: These results may explain the preference of importin-α7 isoforms in seasonal influenza viruses in human upper respiratory tract and may suggest a selective pressure toward importin-α7 in human respiratory tract infection of an avian virus.

Comparative study of spermatozoa detection using the genital swab versus bedside smear slide technique in sexual assault patients.

BACKGROUND: Specimen collection from sexual assault victims is an essential part of practice in forensic medicine. Semen analysis is a forensic test used to confirm sexual contact. Two methods of specimen collection were compared in this study: the genital swab and bedside slide smear. MATERIALS AND METHODS: A retrospective chart review was performed in the Division of Clinical Forensic Medicine, Siriraj Hospital, Thailand. Data were collected on microscopic spermatozoa detection in the external and internal genitalia, the time interval from assault to visit, and the history of condom use and genital cleansing. McNemar's test was used for comparison between the genital swab and bedside slide smear techniques. RESULTS: In total, 724 case files from 2009 to 2013 were reviewed. The genital swab technique yielded a higher detection rate than did the bedside slide smear technique in both the external genitalia (37.0% vs. 31.8%, respectively) and internal genitalia (40.8% vs. 34.1%, respectively). Collection of a genital swab only missed positive cases in 4%-6% of negative swabs. When considering both the external and internal genitalia, the genital swab still yielded a higher rate of positive results than did the slide smear (45.9% vs. 39.0%, respectively). Examination of the victim within the first 3 days produced the highest spermatozoa detection rate (46.3%). CONCLUSIONS: The genital swab is the preferred specimen collection method for spermatozoa detection in adult sexual assault victims. However, collection of both a swab and slide specimen may be considered in some cases. Collection of specimens later than 3 days after the assault greatly decreases the rate of spermatozoa detection.

The usefulness of Neisseria gonorrhoeae strain typing by Pulse-Field Gel Electrophoresis (PFGE) and DNA detection as the forensic evidence in child sexual abuse cases: a case series.

Diagnosis of alleged child sexual abuse can be made from history in conjunction with physical examination, psychosocial evaluation, and laboratory investigations. Sexually transmitted infection associated with sexual abuse is found in 5 % of the victims, with Neisseria gonorrhoeae being the most common organism. Identification of sexually transmitted disease, particularly N. gonorrhoeae infection, can be useful for the diagnosis of sexual abuse and thus, the initiation of the child protection process. Polymerase Chain Reaction (PCR) is a newer diagnostic assay with a higher sensitivity compared with conventional culture method. In addition, N. gonorrhoeae strain typing can also be used to identify the abuser. In this case series, we present the application of N. gonorrhoeae strain typing (PFGE technique) to identify the abuser, and the confirmation of gonococcal vaginitis by PCR technique.