INTRODUCTION:

Juvenile idiopathic arthritis is a heterogeneous T cell-mediated autoimmune disease with symptoms of premature aging of the immune system (immunosenescence). The present work is an investigation of immunosenescence parameters, such as quantity of naive and CD28- T cells, T cell receptor excision circles, relative telomere length and alterations of peripheral T cell replication, and was performed via comparison of a case of acute exacerbation of juvenile idiopathic arthritis against six patients with juvenile idiopathic arthritis with disease remission and six age-matched healthy donors over a follow-up course of 12 months.

CASE PRESENTATION:

Phenotypical T cell characterization and intracellular interferon gamma, tumor necrosis factor alpha, and interleukin 2 production were studied in peripheral blood mononuclear cells from seven patients with juvenile idiopathic arthritis and six healthy control donors, with findings determined by flow cytometry. T cell receptor excision circles and relative telomere length quantification were performed on deoxyribonucleic acid isolated from naive (CD4+CD28+CD45RA+) T cells and investigated via reverse transcription polymerase chain reaction. Ki67 expression was studied by immunohistochemistry on naive T cells. The non-parametric Mann-Whitney U test and Wilcoxon test for two independent groups of variables were used to compare healthy donors with patients with juvenile idiopathic arthritis. During follow-up, patients with juvenile idiopathic arthritis showed lower total counts of naive and CD28-expressing T cells compared to healthy donors. Acute exacerbation led to low naive and CD28+ T cell populations and elevated proportions of Ki67-expressing CD4+ naive T cells. In conditions of exacerbation, T cell receptor excision circle numbers were in the lower range in patients with juvenile idiopathic arthritis and increased after follow-up. Healthy donors showed significantly higher relative telomere lengths compared to patients with juvenile idiopathic arthritis.

CONCLUSIONS:

This investigation illustrates that the changes in T cell homeostasis in patients with juvenile idiopathic arthritis may be the result of several mechanisms, such as diminished thymus function and peripheral exertions to maintain the peripheral T cell pool. The results also demonstrate that hallmarks of immunosenescence such as decreased naive T cell levels and lower T cell receptor excision circle numbers can only be interpreted together with replication markers such as relative telomere length or Ki67 expression.

INTRODUCTION:

Fungal myositis is very uncommon, even in patients who are immunocompromised. Because of its rarity and a lack of clinical experience, no consensus has been reached about the best means of treating fungal myositis. To the best of our knowledge this is the first description of the treatment of fungal myositis with simultaneous intravenous and intra-lesional itraconazole.

CASE PRESENTATION:

A 35-year-old Chinese woman with acute myelomonocytic leukemia developed Candida krusei fungemia and fungal myositis in the right biceps brachii after chemotherapy. A course of intravenous itraconazole and subsequently intravenous voriconazole was initiated and her blood cultures became sterile; however, our patient remained febrile and the myositis did not resolve. Intravenous itraconazole was restarted simultaneously with low-dose intra-lesional itraconazole. The pyrexia settled after 48 hours and within 10 days the lesion could be seen to be resolving. After the course of intravenous and intra-lesional anti-fungals was complete, oral itraconazole was administered as maintenance therapy.

CONCLUSIONS:

To the best of our knowledge this is the first case in which fungal myositis was successfully treated with intravenous and intra-lesional itraconazole in a patient with acute myelomonocytic leukemia. The efficacy and safety of locally-administered itraconazole to treat intractable soft tissue infections requires further evaluation.

INTRODUCTION:

Patients with polycythemia vera are at high risk for vaso-occlusive events including cerebral ischemia. Although unusual, acute ischemic stroke may be an initial presentation of polycythemia vera. It had been previously assumed that cerebral ischemic events were due to increased blood viscosity and platelet activation within the central nervous system arterial vessels. However, there are now a few isolated case reports of probable micro-embolic events originating from outside of the brain. This suggests unique management issues for these patients.

CASE PRESENTATION:

We present the case of a 57-year-old right-handed Indian male in excellent health who presented to the Emergency Department with acute right-handed clumsiness. Hematologic investigations revealed a hyperviscous state and magnetic resonance imaging was consistent with cerebral emboli. Symptoms rapidly improved with phlebotomy and hydration.

CONCLUSION:

The etiology of stroke in polycythemic patients is likely to be multifactorial. While hemodilution has been generally discredited for general stroke management, it is potentially beneficial for patients with polycythemia vera and euvolemic hemodilution should be considered for the polycythemic patient with acute cerebral ischemia.

The clinical presentation of eosinophilic myocarditis may vary from asymptomatic to the manifestation of severe symptoms, including cardiac tamponade and arrhythmias. In pregnant patients with this condition, drugs must be used cautiously up to approximately the 4th month of pregnancy because drug use should be limited during the period of fetal organogenesis.A 30-year-old Asian woman at 14 weeks of pregnancy with progressive malaise was hospitalized. The electrocardiogram revealed ST elevation and low QRS voltage. Echocardiography revealed massive pericardial effusion and myocardial swelling. A laboratory examination revealed an increase in her white blood cell count, with a predominance of neutrophils. Pericardial drainage was performed for relief of the cardiac tamponade. The pericardial effusion revealed an abundance of eosinophils. Subsequently, the peripheral blood eosinophil count began to rise, and the patient was clinically diagnosed with eosinophilic myopericarditis. The patient's condition improved rapidly following the initiation of prednisolone treatment, and she finally delivered a full-term normal infant.A patient with clinically suspected myopericarditis in the early stage of pregnancy who improved rapidly with pericardial drainage and prednisolone therapy, and successfully delivered a normal full-term infant; the diagnosis was made in the early stage of the disease, based on the detection of an abundance of eosinophils in the pericardial effusion preceding the subsequent development of peripheral blood eosinophilia.

Irreversible electroporation (IRE) is a new minimally invasive tumor ablation technique which induces irreversible disruption of cell membrane integrity by changing the transmembrane potential resulting in cell death. Irreversible electroporation is currently undergoing clinical investigation as local tumor therapy for malignant liver and lung lesions. This is the first case report to describe the successful palliative ablation of a presacral recurrence of an endometrial cancer to achieve locoregional tumor control and pain relief.A 56-year-old Caucasian woman was referred for interventional treatment of an advanced local recurrence of endometrial cancer (11.9 × 11.6 × 14.9cm) with infiltration of the sacral bone and nerve plexus. Due to the immediate proximity to the sacral plexus, the patient could neither undergo surgical therapy nor a second radiation therapy. Due to its ablation mechanism irreversible electroporation was deemed to be the best therapy option.We showed in this case that a large tumor mass adjacent to a bundle of neural structures, the sacral plexus, can be widely ablated by irreversible electroporation with only minor temporary impairment of the neural function, even though a large infiltrating tissue volume (941cm3) was ablated.

INTRODUCTION:

Histiocytic sarcoma is a rare neoplasm with few cases reported in the literature of which some were diagnosed in animals. This neoplasm arises from abnormal reticuloendothelial system cell proliferation of histiocytes and has an aggressive behavior especially if located in the central nervous system. We present the first case of a patient with histiocytic sarcoma that involved the meninges and had a good course after multidisciplinary treatment.

CASE PRESENTATION:

Our patient was a 41-year-old Caucasian woman with no previous history of disease who started with systemic symptoms such as headache and chills. Magnetic resonance imaging with gadolinium contrast of the brain suggested a mass 1.5x2cm in diameter in the temporal lobe with a non-uniform vasogenic edema. This lesion was implanted in the meninges and surgery was the first treatment. The histological findings revealed a histiocytic sarcoma. The patient received concomitant chemoradiotherapy after surgery with good tolerance and currently lives without disease.

CONCLUSION:

Although histiocytic sarcomas in the brain present an unusual location and have a poorer prognosis, we have identified the first primary leptomeningeal histiocytic sarcoma with a disease-free survival greater than 3 years following multidisciplinary treatment with surgery and chemotherapy and radiotherapy.

INTRODUCTION:

Paracoccidioidomycosis is a systemic mycosis in Latin America that can affect various organs. Few case reports of paracoccidioidomycosis affecting the prostate are found in the literature.

CASE PRESENTATION:

We present the case of a 79-year-old Caucasian man with a six-month history of irritative symptoms of the prostate (urgency, frequency and nocturia) and difficulty initiating urination that progressed to urinary retention and the use of a urinary catheter. The anatomopathological analysis of the transurethral resection of the prostate revealed chronic granulomatous prostatitis of fungal etiology (paracoccidioidomycosis) with extensive necrosis. The patient began treatment with itraconazole at a dose of 100mg/day for six months. Radiography of the thorax revealed bilaterally diffuse nodular reticular interstitial lesions. The patient progressed to respiratory failure and was sent to the intensive care unit, but suffered a cardiopulmonary arrest and was pronounced dead.

CONCLUSIONS:

Due to the high incidence of paracoccidioidomycosis in countries like Brazil, urologists should suspect blastomycosis in all patients with symptoms of lower urinary obstruction with chronic abacterial prostatitis. Considering that paracoccidioidomycosis has the potential to affect various organs, following diagnosis, the treatment must be initiated as soon as possible.

INTRODUCTION:

Congenital diaphragmatic hernia is a major malformation occasionally found in newborns and babies. Congenital diaphragmatic hernia is defined by the presence of an orifice in the diaphragm, more often to the left and posterolateral, that permits the herniation of abdominal contents into the thorax. The aim of this case series is to provide information on the presentation, diagnosis and outcome of three patients with late-presenting congenital diaphragmatic hernias. The diagnosis of congenital diaphragmatic hernia is based on clinical investigation and is confirmed by plain X-ray films and computed tomography scans.Case presentations: In the present report three cases of asymptomatic abdominal viscera herniation within the thorax are described. The first case concerns herniation of some loops of the large intestine into the left hemi-thorax in a 75-year-old Caucasian Italian woman. The second case concerns a rare type of herniation in the right side of the thorax of the right kidney with a part of the liver parenchyma in a 57-year-old Caucasian Italian woman. The third case concerns herniation of the stomach and bowel into the left side of the chest with compression of the left lung in a 32-year-old Caucasian Italian man. This type of hernia may appear later in life, because of concomitant respiratory or gastrointestinal disease, or it may be an incidental finding in asymptomatic adults, such as in the three cases featured here.

CONCLUSIONS:

Patients who present with late diaphragmatic hernias complain of a wide variety of symptoms, and diagnosis may be difficult. Additional investigation and research appear necessary to better explain the development and progression of this type of disease.

INTRODUCTION:

The normal startle response is a form of physiological myoclonus. Its anatomic origin is probably the brain stem. Pathologic startles are defined as reproducible exaggerated startle responses to trivial and not surprising stimuli. Symptomatic forms of an exaggerated startle response can be due to a variety of brain stem disorders. We have, however, found scant data about an exaggerated startle reflex induced by Lyme neuroborreliosis. We therefore report the case of a patient with this unusual presentation.

CASE PRESENTATION:

A 69-year old Caucasian man presented with a two-week history of a pronounced startle myoclonus, as well as a four-week history of double vision, gait disturbance and severe lancinating pain in his upper thoracic region. Neurological examination showed an excessive startle reaction of his upper trunk evoked by visual and tactile stimulation, a positive sign of Lhermitte, mild right-sided palsy of his sixth and seventh cranial nerve, moderate dysarthria, very brisk deep tendon reflexes, pallhypesthesia of his legs, and an atactic gait disturbance. A diagnosis of a Lyme neuroborreliosis was confirmed by cerebrospinal fluid examination. Under intravenous treatment with ceftriaxone, our patient improved considerably with complete remission in a follow-up at two months.

CONCLUSIONS:

This case illustrates the chameleon role that neuroborreliosis likes to play: although the wide spectrum of different symptoms that neuroborreliosis can present with has been described, to the best of our knowledge this is the first case report about a symptomatic form of a pathologic startle response as the predominating sign of Lyme neuroborreliosis.

A laugh-induced seizure is an unrecognized condition and to the best of our knowledge no case has been reported in the medical literature until now. We present an interesting and extremely rare case in which laughing generated the seizure activity that was recorded and confirmed by video electroencephalography.A 43-year-old obese Caucasian man with history of bipolar disorder and chronic headache presented with multiple episodes of seizures, all induced by laughter while watching comedy shows. Each episode lasted approximately five seconds. In each instance, he started laughing, then his arms started shaking and he felt like 'his consciousness was being vacuumed away'. A physical examination revealed normal findings. He had been maintained on valproic acid for bipolar disorder and topiramate for his chronic headache, but this did not control his symptoms. His sleep-deprived electroencephalography and brain magnetic resonance imaging were normal except for an arachnoid cyst measuring 4.2 × 2.1cm in the anterior right middle cranial fossa. His video electroencephalography demonstrated laugh-induced seizure activities. He was then placed on carbamazepine. Following treatment, he had two episodes of mild staring but no frank seizures, and his seizures have remained well controlled on this regimen for more than a year.Laugh-induced seizure is a most unusual clinical entity without any previous case report. Confirmatory diagnosis can be made by video electroencephalography recording of seizure activities provoked by laughing. As in gelastic seizure without hypothalamic hamartoma, our case responded well to polytherapy with topiramate and carbamazepine on top of laugh-provocation avoidance. Further study is required to establish the standard treatment of this condition.