Myotonic dystrophy and lipoma: a new association

A 58-year-old man developed muscle weakness and had more than 1,000 CTG repeats in the myotonin protein kinase gene. He was diagnosed as having myotonic dystrophy. At the time of diagnosis, a large tumor was detected in his abdominal cavity on CT scan examination. He died from pneumonia 6?years later. At autopsy, the abdominal tumor was diagnosed as a lipoma. Several types of tumor have been reported to be associated with myotonic dystrophy type 1; however, this is the first detailed clinical case demonstrating the possible relationship between myotonic dystrophy and lipoma.     

Correlative magnetic resonance imaging and autopsy findings in a patient with coagulation necrosis treated with tissue plasminogen activator

Coagulation necrosis is a peculiar type of ischemic necrosis that is characterized by firm, eosinophilic parenchyma with recognizable cell outlines without massive glial reactions. This is an autopsy report of coagulation necrosis 6 months after thrombolytic tissue plasminogen activator therapy against massive cerebral embolism in an 84-year-old man with atrial fibrillation.     

Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia

Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described. Perikaryal expansion of cytoplasm was evident, mostly in motor neurons (in the anterior horn and the brain stem), dorsal root ganglia, cerebellar dentate neurons and some neurons in the thalamus and nucleus basalis of Meynert. The stored material was lamellar in lysosomes and exhibited a specific affinity to wheat germ agglutinin at light and electron microscopy, which indicates the accumulation of terminal sialic acid at the non-reducing end of the sugar chain in this pathological structure. Neuronal loss in these nuclei, however, was not frequent in spite of frequent and massive cytoplasmic expansion. Neocortex exhibited a mild spongiosis with some swelling of neurons, which contained lipofuscin-like granules and small amount of lamellar structures in lysosomes. This contrast suggests a discrepancy between the storage process and vulnerability of neurons, both variable according to areas examined. In the cerebellar vermis, dysplastic features, such as abnormal layering of Purkinje cells, thinning and rarefaction of the granule cell layer, incomplete formation of synapse and disordered proliferation of Bergmann’s glia, were focally accentuated, suggesting some developmental abnormality not secondary to the storage process. This is the first autopsy demonstration of sialic acid in the lamellar materials and of a developmental abnormality in isolated sialidase deficiency. Additional studies are needed to clarify how this molecular abnormality leads to these morphological and clinical manifestations.     

Associations of workplace bullying and harassment with stress reactions: a two-year follow-up study

The purpose of this prospective study was to investigate the effect of the patterning of workplace bullying and harassment over two time points (chronic, remission, onset, and never) on psychological and physical stress reactions. The subjects were 543 workers at welfare facilities for the elderly in Japan who completed a self-administered questionnaire at Time 1 (from August to September, 2009) and at Time 2 (from September to October, 2011). Workplace bullying and harassment were assessed using the Negative Acts Questionnaire (NAQ). Stress reactions were assessed using the Brief Job Stress Questionnaire. In the multiple logistic regression analyses, onset of person-related bullying was significantly (p<0.05) positively associated with both psychological and physical stress reactions at Time 2. Chronic form of person-related bullying was significantly (p<0.05) positively associated with psychological stress reaction at Time 2. Onset of sexual harassment was significantly (p<0.05) positively, and remission of sexual harassment was significantly (p<0.05) negatively associated with physical stress reaction at Time 2. Onset and chronic form of person-related bullying and onset of sexual harassment can cause stress reactions. Remission of sexual harassment can terminate physical stress reaction.     

Immunosupportive therapies in aging

The primary role of the immune system is to protect the organism against pathogens, but age-associated alterations to immunity increase the susceptibility of the elderly to infectious disease. The exact nature of these changes is still controversial, but the use of screening procedures, such as the SENIEUR protocol to exclude underlying illness, helped to better characterize the changes actually related to physiological aging rather than pathology. It is generally agreed that the most marked changes occur in the cellular immune response reflecting profound alterations in T cells. Much of this is due to thymic involution as well as changes in the proportions of T cell subpopulations resulting from antigen exposure, and altered T cell activation pathways. However, a body of data indicates that innate immune responses, including the critical bridge between innate and adaptive immunity, and antigen presenting capacity are not completely resistant to senescence processes. The consequences of all these alterations are an increased incidence of infections, as well as possibly cancers, autoimmune disorders, and chronic inflammatory diseases. The leading question is what, if anything, can we do to prevent these deleterious changes without dangerously dysregulating the precarious balance of productive immunity versus immunopathology? There are many potential new therapeutic means now available to modulate immunosenescence and many others are expected to be available shortly. One main problem in applying these experimental therapies is ethical: there is a common feeling that as ageing is not a disease; the elderly are not sick and therefore do not require adventurous therapies with unpredictable side-effects in mostly frail individuals. Animal models are not helpful in this context. In this chapter we will first briefly review what we think we know about human immunosenescence and its consequences for the health status of elderly individuals. We will then discuss possible interventions that might one day become applicable in an appropriate ethical environment.     

Influence of age on the signal transduction of T cells in mice

A 5- to 10-fold decline was observed in the proliferative activityof T cells stimulated with anti- CD3 mAb between young and oldmice. However, the number of CD3 molecules on the T cell surfacewas almost comparable between young and old T cells. The formationof the second messenger such as inositol triphosphate (IP₃)and dlacylglycerol (DAG) after mitogenic stimulation decreasedin old T cells as compared with young ones. The activity ofphospholipase C (PLC), which is responsible for the liberationof IP₃ and DAG from phosphatidylinositol-4, 5- blsphosphate(PIP₂ was not different between young and old T cells. The contentof PIP₂ in the membrane was also comparable between young andold T cells. These findings have suggested that the age-relateddecline in the prollferative activity of T cells could be dueto impairment of intracellular signal transduction, probablyin the pathway somewhere between TCR and PLC.     

Mucin-Producing Carcinoma of the Thyroid Gland--A Case Report and Review of the Literature

Mucin-producing carcinoma of the thyroid is rare and its histogenesishas been debated. The first case was reported by Diaz-Perezet al. (1976). We herein report the sixth case of mucin-producingcarcinoma of the thyroid which was discovered in a 72-year-oldJapanese woman. This patient was admitted with a 10-year historyof a lump in the right anterior neck, which started to growsuddenly two months before diagnosis. The pathological diagnosisat biopsy was anaplastic carcinoma. A course of radiation therapyfollowed by chemotherapy resulted in no response. She died oftwo months after admission. At autopsy, the main tumor was foundin the right lobe of the thyroid with metastasis to the lungsand liver. Histologically, the tumor was composed of mucin-secretingglandular cells and nests of epidermoid cells with keratinizationand infrequent formation of intercellular bridges. Mucin wasdemonstrated both intracellulary and extracellulary.