North American Journal of Medicine and Science
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Metastatic Prostate Adenocarcinoma in Primary Lung Adenocarcinoma: An Unusual Case Report and Literature Review
Get PDFTumor-to-tumor metastasis (TTM) is a rare condition in which one tumor metastasizes into another tumor. Based on the literature, the most common donor of TTM is lung and the most common recipient is kidney. Here we reported a rare case that has the metastatic prostate adenocarcinoma in primary lung adenocarcinoma. According to our knowledge, it is the first report in the English literature in the last 20 years. The patient is a 74-year-old male with the history of prostate cancer, which was treated by external beam radiation and androgen deprivation therapy. Nine years after treatment, he was found to have multiple metastatic bone lesions and androgen deprivation therapy was given again. Eleven years after initial diagnosis, the patient present with short of breath and CT showed a right upper lobe nodule and an enlarged right hilar lymph node. Both the lung nodule and the hilar lymph node were biopsied. The hilar lymph node was positive for metastatic prostate adenocarcinoma. Interestingly, the lung nodule showed two different histological components intermixed with each other. The majority of tumor cells formed glandular structure and were immunostained positive for CK7, TTP-1 and Napsin A, compatible with primary lung adenocarcinoma. Some individual and small cluster of cells were negative for the above markers, but highlighted by PSA, PSAP and racemase (AMACR/P504S) immunostain, which were consistent with metastatic prostate adenocarcinoma. The patient was scheduled to be treated with stereotactic body radiation therapy (SBRT), but he declined. His current condition is stable at the most recent follow-up.[N A J Med Sci. 2016;9(3):127-131. DOI: 10.7156/najms.2016.0903127
Locally Invasive Dermal Squamomelanocytic Tumor: An Uncommon Case of a Biphenotypic Neoplasm that Usually Occurs on Sun-Damaged Skin of Elderly Individuals
Get PDFWe report a locally invasive dermal squamomelanocytic tumor arising on the right jawline of an 85 year old woman with extensive sun damage treated with complete excision. Histological examination revealed a well circumscribed but unencapsulated dermal tumor comprised of epithelioid squamous cells and heavily pigmented melanocytes. AE1/AE3 cytokeratin stain, HMB-45, and Melan-A stain highlight the different component populations. The population of epithelioid squamous cells comprised the predominant population as encountered in other reported cases. The diagnostic features, reported cases, and management of this uncommon tumor were reviewed.
A Rare Case of Leptomeningeal Signet-Ring Cell Melanomatosis with Unknown Primary Mimicking Leptomeningeal Carcinomatosis
Get PDFWe present a first case of a 63-year-old man clinically diagnosed with leptomeningeal carcinomatosis, who upon postmortem examination was found instead to have leptomeningeal melanomatosis with signet-ring cell features and unknown primary. This patient presented with no known history of cancer or skin lesions and six months history of anorexia, weight loss and fatigue, followed by two weeks of confusion and difficulty with speaking and ambulating. Brain MRI showed multiple variably sized contrast-enhancing lesions and diffuse abnormal leptomeningeal contrast enhancement. Full body CT imaging revealed no detectable lesions elsewhere in the body.Antemortem CSF cytology was diagnosed as metastatic adenocarcinoma on multiple occasions based upon the signet ring cell morphology. Immunohistochemical studies were not performed because of the scant cellularity. The patient expired despite treatment with Temazolamide, whole brain radiation, and intrathecal methotrexate. Postmortem examination of the brain revealed no gross abnormality. Microscopic examination showed a subdural collection of discohesive tumor cells with marked nuclear pleomorphism, hyperchromasia, and frequent signet-ring or rhabdoid morphology, as well as a striking, diffuse infiltration of tumor cells in the leptomeninges. Intraparenchymal deposits were also seen in many areas.General autopsy also identified tumor metastases in the larynx and testes. Tumor cells were immunoreactive for melanoma markers (S100, Melan-A, Tyrosinase and HMB-45) and negative for cytokeratins and mucin. There is no evidence of primary melanocytic lesion or neurocutaneous melanosis. A diagnosis of leptomeningeal signet-ring cell melanomatosis with unknown primary was rendered.While most patients with metastatic melanoma do have a known history, in a small percentage no primary site is ever identified. We discuss possible etiologies for this phenomenon and emphasize the potential pitfall of signet-ring melanoma clinically and cytologically mimicking adenocarcinoma. Melanoma with signet-ring cell features should be included in the differential diagnosis for cases of presumed adenocarcinoma with unknown primary
Cancer Stem Cell: The Seed of Tumors?
Get PDFExcitotoxicity is one of the central processes in cerebral ischemia, and is of great importance in the pathophysiology of both stroke and global ischemia. In this review, we have attempted to tackle the structural and functional changes to NMDAR after ischemia and explore the different roles NMDAR sub-units play in cerebral ischemia. Other associated pathologic processes, such as inflammation, apoptosis, and necrosis, will undoubtedly influence and overlap with excitotoxic pathways, and may result in further alterations to NMDAR structure and mechanisms. As research illuminates the pathway to NMDAR-mediated excitotoxic damage and neuroprotection, we hope that this will be followed by emergence of treatment of important conditions like stroke. Already, attempts have been made to prevent pro-death cascades by inhibiting NMDAR signaling at the level of the PSD, thus sparing any neuroprotective action stimulated by receptor activation. We hope that these and other therapies will prove that the elusive concept of neuroprotection is not a myth
Gut Microbiome and Autism: Recent Advances and Future Perspectives
Get PDFAutism spectrum disorder (ASD) is a complex neurological and developmental disorder characterized by impaired communication and social interaction skills, as well as stereotypical repetitive behavioral patterns. Its etiology remains elusive, likely involving a combination of genetic changes and environmental factors. Among them, microbiome dysbiosis of the gastrointestinal (GI) system and its effect on CNS inflammation appears to be an important one. Symptoms of the GI system in patients with ASD are closely associated with primary or secondary changes in microbiome abnormalities of the gut. Moreover, the severities of neurological and behavioral symptom in ASD are determined at least in part by gut microbiome profiles in some subgroups of ASD patients. We review the evidence supporting notions of microbiome dysbiosis in host pathogenesis, especially with respect to diseases of the central nervous system (CNS). Next, we explore the differences in gut microbiome between neurotypical and ASD children, how these differences arise and how alterations in gut microbiome can lead to the pathogenesis or exacerbation ASD symptoms. We also attempt to address current and emerging new strategies of ASD therapeutic interventions that aim at modulating the gut microbiome, including dietary therapies/prebiotics, probiotics/antibiotics, fecal microbiota transplantation, immune therapies, and the use of traditional Chinese medicine. [N A J Med Sci. 2016;9(3):104-115. DOI: 10.7156/najms.2016.0903104
A Novel GATA-1 Mutation in a Neonate with Transient Abnormal Myelopoiesis without Down Syndrome
Get PDFTransient abnormal myelopoiesis (TAM) is a rare disorder usually diagnosed in newborns with Down syndrome, less frequently in mosaic trisomy 21 and only sporadically in phenotypically normal infants. In addition to the association with trisomy 21, TAM is also associated with mutations in the GATA-1 gene. We report a case of TAM with a novel mutation in the GATA-1 gene. A newborn boy was found to have leukocytosis (52.9 x 109/l) with 50% myeloid blast forms. Fluorescence in situ hybridization (FISH) on peripheral blood showed trisomy 21 limited to the blast forms. Further cytogenetic studies revealed that he did not have constitutional trisomy 21 or mosaic trisomy 21. Sequencing studies performed on DNA isolated from a peripheral blood sample containing blast forms showed a frameshift mutation in the GATA-1 gene (c.148_149dup CC) implying premature termination. A diagnosis of transient myeloproliferative disorder spectrum was made. The patient was treated with a short course of cytarabine with resolution of leukocytosis and a blast count of less than 0.5% at one month of age. Follow-up at 2 years after diagnosis showed normal peripheral blood counts and sustained molecular remission with normal karyotype.
Sclerodermatous Graft-Versus-Host Disease-Related Angiomatosis
Get PDFChronic graft-versus-host disease (cGVHD) is a relatively common complication of allogenic hematopoietic stem cell transplantation, although the exact incidence is unknown. The disease most commonly affects the skin, liver, and gastrointestinal tract, but any organ may be involved. Cutaneous manifestations are varied and rarely include vascular eruptions now characterized by the term “graft-versus-host disease associated angiomatosis” (GVHD-AA). We present a 70 year-old male with bleeding violaceous plaques and papules in the setting of sclerodermatous cGVHD. Biopsy of these lesions revealed angiomas with focal organizing thrombosis in a background of marked dermal sclerosis. Ulceration and progression of lesions continued despite treatment with local excision, prednisone, extracorporeal photopheresis, and hydroxychloroquine. GVHD-AA likely represents reactive vascular proliferation in areas of dermal sclerosis.1 We report this case to raise awareness of GVHD-AA as a potential diagnosis in patients who present with vascular eruptions in the setting of cGVHD, and to encourage research into the etiology and potential treatment of reactive angiomatosis.
Prevalence, Significance and Clinical Characteristics of Seizures, Epilepsy and Subclinical Electrical Activity in Autism
Get PDFThis manuscript reviews epilepsy, seizures and/or subclinical electrical discharges (SEDs) in individuals with autism spectrum disorder (ASD), including prevalence of epilepsy and SEDs, clinical characteristics of this ASD subgroup and seizure types. The prevalence of epilepsy in ASD is higher than the prevalence of epilepsy in typically developing individuals and depends on age and gender as well as comorbid genetic, metabolic and intellectual abnormalities. Studies suggest that, in ASD, the prevalence of clinical seizures increases with age and that adults with ASD and epilepsy have greater behavioral and cognitive problem as well as elevated mortality. Temporal and frontal lobe epilepsies as well as electrical status epilepticus during sleep syndromes share characteristics with ASD yet these syndromes are rarely diagnosed in ASD. The prevalence of SEDs is very high in ASD. Studies suggest that SEDs and epilepsy share common underlying neuropathology but that children with epilepsy have greater cognitive and behavioral impairments than those with SEDs. Studies, mostly on children with epilepsy, provide evidence that SEDs are related to cognitive impairment. One study suggests that the patterns of temporal and frontal SEDs are related to the ASD diagnosis. These studies are consistent with the cognitive and behavioral abnormalities associated with temporal and frontal lobe epilepsies. This adds support for that fact that SEDs are significant. However, carefully controlled studies on the significance of SEDs in ASD are lacking.
Cultural Considerations in the Selection of Evidence-Based Psychosocial Interventions for Chinese-American/Immigrant Children with Autism Spectrum Disorders
Get PDFJust as treatment for children with autism spectrum disorders (ASD) does not follow a universal course of intervention, so should the design and implementation of evidence-based interventions not assume universal efficacy for all groups, especially those from non-dominant cultures. The scarcity of efficacy studies on psychosocial interventions for the Chinese-American/immigrant children with ASD calls for more research on the topic and challenges mental health and educational providers to consider cultural factors in various phases and at various levels when conducting interventions. This article presents specific cultural considerations in the selection of evidence-based psychosocial interventions for Chinese-American/immigrant children with ASD for professionals serving the population. Examples include considerations of cultural/linguistic characteristics of the child with ASD, his/her family and school context, and their cultural values. As Evidence-based Interventions (EBI) are necessary but not sufficient for effective interventions, strategies based on implementation science are recommended
Positive Effect of Fever on Symptoms of Autism
Get PDFAutism is no longer considered incurable. Numerous reports have documented cures of autism, especially in young children. In addition, transient improvement in symptoms of ASD has been reported during natural fever in response to infection, suggesting the potential use of fever as a therapy leading to a cure. Fever has proven to be very effective in treatment of human disorders. In the past, fever in response to malaria was successfully used to cure >84% of individuals with the terminal condition dementia paralytica. Malariotherapy has also been used to treat human immunodeficiency virus. Pertinent to autism, recent approaches to alleviate symptoms using heat alone include Sulforaphane (a phytochemical derived from a number of cruciferous vegetables, including broccoli), which has a fever-like effect, and the use of hot water baths to increase body temperature. However, these two means of producing heat do not include the involvement of the immune response, which provides antibodies, inflammatory cytokines, and other means of alleviating the symptoms of autism. It is suggested that trials of various means of producing fever be conducted in populations of individuals with autism. Of note, it is essential that the cause(s) of any induced fever can be cured. Herpes might be considered as a cause of fever that would be effective in alleviating symptoms of autism. A naturally-occurring infection in humans, herpes has been reported to be cured. Overall, the literature to date suggests that purposeful induction of fever is a promising approach in the search for an alleviation and/or cure of ASD. [N A J Med Sci. 2016;9(4):167-171. DOI: 10.7156/najms.2016.0904167] Key Words: autism spectrum disorder, fever, neuroinflammatio