Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal disease primarily of children, characterized by a severe hyperinflammatory state. We describe a case of adult onset familial HLH with a novel exon 19, c.1607G>T (p.Arg536Leu) heterozygous mutation of the UNC13D gene in a 40-year-old woman who developed HLH during her first and second pregnancies, both episodes occurring during the first trimester. Our patient was treated successfully both times with HLH-94 protocol following spontaneous abortions and is currently in the process of getting a bone marrow transplant. We also discuss pregnancy as a potential trigger for late onset familial HLH.
The number of reports associated with wood dieback caused by fungi in the Botryosphaeriaceae in numerous perennial crops worldwide has significantly increased in the past years. In this study, we investigated the interactions between the canker pathogen Neofusicoccum parvum and the almond tree host (Prunus dulcis L.), with an emphasis on varietal resistance and host response at the cell wall biochemical and histological levels. Plant bioassays in a shaded house showed that among the four commonly planted commercial almond cultivars (cvs. ‘Butte’, ‘Carmel’, ‘Monterey’ and ‘Nonpareil’), there was no significant varietal difference with respect to resistance to the pathogen. Gummosis was only triggered by fungal infection, and not by wounding. A two-dimensional NMR and liquid chromatography determination of cell wall polymers showed that infected almond trees differed significantly in their glycosyl and lignin composition compared to healthy, non-infected trees. Response to fungal infection involved a significant increase in lignin, a decrease in glucans, and an overall enrichment in other carbohydrates with a profile similar to those observed in gums. Histological observations revealed the presence of guaiacyl-rich cell wall reinforcements. Confocal microscopy suggested that N. parvum mainly colonized the lumina of xylem vessels and parenchyma cells, and to a lesser extent the gum ducts. We discuss the relevance of these findings in the context of the CODIT model in almond and its potential involvement in the vulnerability of the host toward fungal wood canker diseases.
Tuberculosis (TB) is a serious infection that can involve any organ system and present in various forms. About one-third of the world’s population are carriers of latent TB. Although most cases are from a pulmonary origin, there is a rising prevalence of abdominal TB. Patients with pulmonary or extrapulmonary TB are treated similarly through the use of pharmacological therapy. Nonspecific clinical manifestations of TB have made it difficult for clinicians to diagnose. Peritoneal tuberculosis (PTB) is a serious concern as its symptoms overlap with that of many other chronic conditions, especially in those who are immunocompromised. The lack of highly sensitive and specific testing methods has made early intervention difficult, therefore a high index of suspicion is crucial in the progression of the disease. Here, we present a case of a 71-year-old female with a history of abdominal pain, fever, and weakness. Initial investigation with CT imaging revealed omental fat stranding that pointed towards peritoneal carcinomatosis (PC) from possible recurrence of her ovarian cancer. Further investigation with a peritoneal biopsy was remarkable for caseating granulomas with fat necrosis confirming extrapulmonary TB. This report highlights a rare case of PTB mimicking PC in an elderly patient who is immunocompromised from the use of long-term corticosteroids who continued to decline after pharmacological treatment of the disease.
Rhabdomyolysis ranges from being asymptomatic with elevated creatine kinase (CK) to a potentially lifethreatening condition involving multiple organ systems. Muscular trauma is the most common cause, followed by enzyme deficiencies, electrolyte abnormalities, drugs, toxins, and endocrinopathies. While these risk factors are delineated, it is not clear if mild exposure to a combination of risk factors could lead to the development of rhabdomyolysis. In this case report, a 22-year-old male of Pakistani/Caucasian ethnicity presented to the emergency room with myalgias and tea-colored urine after starting a new exercise program. His serum CK level and liver function tests were significantly elevated. He was successfully treated for acute rhabdomyolysis with aggressive hydration. However, the etiology of his condition was not clear given that his exercise was not considered vigorous. The only plausible explanation for his symptoms included the use of prescribed dextroamphetamine, which may have exacerbated the physiologic responses induced by exercise. This report describes a novel case in which a patient may have developed recurrent episodes of rhabdomyolysis due to low-dose dextroamphetamine use. The combination of exercise and dextroamphetamine use may predispose patients to develop rhabdomyolysis.
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