Ptosis and Miosis Associated with Fibrosing Mediastinitis.

BACKGROUND Fibrosing mediastinitis is a rarely seen, progressive disease. It results from an excessive fibrotic reaction in the mediastinum. We describe a presentation of fibrosing mediastinitis that, to our knowledge, has never been seen before. CASE REPORT A 30-year-old female Colombian flight attendant presented with a right eyelid droop. Examination revealed partial right-sided ptosis and miosis but no anhidrosis. An ill-defined firm swelling was palpable at the root of the neck. Chest radiography revealed a widened mediastinum, and computerized tomography (CT) showed a right paratracheal mass without calcification extending to the thoracic inlet, encasing multiple blood vessels. All basic blood tests, magnetic resonance imaging of the head, and ultrasound Doppler of the neck vessels were normal. History and work up for infections including fungal diseases, granulomatous diseases, vasculitis, and autoimmune diseases were negative. Positron emission tomography (PET) showed significant FDG uptake in the mediastinum. Mediastinal biopsy was histologically consistent with fibrosing mediastinitis. All relevant immunohistochemistry and microbiological studies were negative. Subsequently, the patient developed signs of superior vena cava compression; this was managed by balloon angioplasty, which resulted in improvement of symptoms. However, over time, her symptoms worsened progressively, resulting in a left-sided ptosis and radiological progression of the mass on CT. She received treatment with rituximab and concomitant steroids, which yielded excellent results: the treatment led to both resolution of her symptoms and regression of the mass and its metabolic activity on PET scan. CONCLUSIONS Fibrosing mediastinitis can present with an incomplete Horner's syndrome. Treatment with rituximab and steroids shows promising results in select cases of metabolically active idiopathic fibrosing mediastinitis.

COMPLETE REMISSION OF MEDICALLY TREATED LUTEINIZED THECOMAS WITH SCLEROSING PERITONITIS.

We describe the first French patient treated for sclerosing peritonitis syndrome associated with lutheinized thecomas. At 42 years old, she had respiratory distress with increased abdominal volume. Physical examination revealed ascites, pleural effusions, and two mobile latero-uterine masses. Radiological examinations revealed bilateral ovarian masses of 10 cm. Bilateral adnexectomy was performed by laparotomy. Histological analysis concluded that there were benign luteinized thecomas. Until the 36th postoperative day, the general condition of the patient deteriorated to become critical. A second surgical procedure was attempted revealing sclerosing fibrosis preventing access to the peritoneal cavity. Subsequently, a medical treatment combining parenteral nutrition, high intravenous doses of corticosteroids, antiestrogens, colchicine and sandostatin was administered and effective allowing continuity recovery 15 months later. The clinical outcomes has been favorable at 24 month later.

Catheter based treatments for fibrosing mediastinitis.

Fibrosing mediastinitis is a rare, often debilitating and potentially lethal disease characterized by an exuberant fibroinflammatory response within the mediastinum. Patients typically present with insidious symptoms related to compression of adjacent structures including the esophagus, heart, airways, and cardiac vessels. Fibrosing mediastinitis is most often triggered by Histoplasmosis infection; however, antifungal and anti-inflammatory therapies are largely ineffective. While structural interventions aimed at alleviating obstruction can provide significant palliation, surgical interventions are challenging with high mortality and clinical experience with percutaneous interventions is limited. Here, we will review the presentation, natural history, and treatment of fibrosing mediastinitis, placing particular emphasis on catheter-based therapies.

Progressive solitary sclerosis presented with diplopia: A case report.

OBJECTIVE: To report a patient presented with diplopia followed by progressive quadriparesis in the setting of a solitary pontomedullary lesion. CASE PRESENTATION: We report a 24-year-old woman presented with an attack of diplopia with full recovery, followed by progressive quadriparesis. The patient had a single pontomedullary lesion. Extensive diagnostic work up was negative. After follow up for 6 years, despite of clinical deterioration, the patient had the same pontomedullary lesion consistent with progressive solitary sclerosis. Corticosteroid pulse therapy and rituximab, didn't yield significant improvement, and the course was progressive, but after adding cyclophosphamide, partial improvement was seen. CONCLUSION: Progressive solitary sclerosis can cause progressive quadriparesis after an attack of diplopia without evidence of dissemination in time and space even after a prolonged period. This rare entity should be included in differential diagnosis of demyelinating lesions.

[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance]. / Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular.

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Miopatías relacionadas a colágeno VI: cuando sospecharlas, cómo identificarlas: aporte de la resonancia magnética muscular / Collagen VI related myopathies: when to suspect, how to identify: the contribution of muscle magnetic resonance

Resumen: Las miopatías secundarias a mutaciones en el colágeno VI (M-COLVI) son las más frecuentes en el hemisferio norte, afectando población adulta y pediátrica. No existen datos de su prevalencia en Latinoamérica. Se caracterizan por presentar una gran variabilidad clínica, desde fenotipos severos, como la distrofia muscular congénita de Ullrich (DMCU), a intermedios y leves como la Miopatía de Bethlem (MB). Su inicio también es variable y se extiende desde el período de recién nacido hasta la vida adulta. Dada la presencia de hiperlaxitud articular, el diagnóstico diferencial se debe realizar con diversas enfermedades del tejido conectivo. El algoritmo diagnóstico clásico en muchos pacientes ha sido insuficiente para orientar el estudio genético de forma adecuada, y a partir de esto la resonancia magnética muscular ha emergido como una herramienta de gran utilidad para una mejor aproxima ción diagnóstica de ésta y otras patologías musculares. Esta revisión tiene como objetivo examinar las formas de presentación, características clínicas, estudio diagnóstico específico, diagnóstico dife rencial y manejo de una de las patologías musculares herediatarias más frecuentes, con énfasis en el aporte de la resonancia magnética muscular.

Abstract: Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Kienböck Disease in the Skeletally Immature Patient.

Kienböck disease is uncommon in skeletally immature patients. Although there is no gold standard treatment for Kienböck disease in the skeletally immature patient, surgical and nonsurgical treatment options have been shown to be effective. Initial immobilization with a cast, protection with an orthosis, and avoidance of repetitive forceful activities have been shown to be effective in some cases. Surgery may be offered to the skeletally immature patient when nonsurgical treatment is ineffective. Among several surgical techniques used for treatment in the skeletally immature patient with Kienböck disease, distal radial osteotomies have been the most frequently performed surgery; however, radial overgrowth is a concern. There is a great potential for revascularization and remodeling of the lunate in the skeletally immature patients with Kienböck disease. Good and excellent clinical and radiological outcomes can be achieved with both nonsurgical and surgical treatments.

Possibility of Aggravation of Tissue Sclerosis after Injection of Multipotent Mesenchymal Stromal Cells Near the Forming Cicatrix in the Experiment.

The peculiarities of tissue sclerosis after injection of autologous bone marrow multipotent mesenchymal stromal cells transfected with GFP gene and stained with Vybrant CM-Dil cell membrane dye were studied by light microscopy with luminescence. The surgical intervention consisting in ligation of the great vein was followed by tissue sclerotic transformation caused by direct damage and chronic inflammation caused by the presence of slowly resorbed ligature. Injection of stromal cells after this intervention led to formation of more extensive scar. This can attest to the possibility of stromal cells differentiation into connective tissue cells, fibroblasts, and stimulation of proliferation and collagen synthesis by host fibroblasts. A decrease in the volume of dense fibrous connective tissue due to scar reorganization at latter terms cannot not excluded.

Importance of neuropsychological and clinical features to predict seizure control in medically treated patients with mesial temporal epilepsy and hippocampal sclerosis.

OBJECTIVE: It is not yet understood why seizures in certain patients with mesial temporal lobe epilepsy and hippocampal sclerosis (MTLE-HS) develop resistance to antiepileptic drugs (AEDs) while others achieve good seizure control with this treatment. We analyzed clinical and neuropsychological features associated with seizure control in patients with MTLE-HS who had not undergone resective surgery. METHODS: We enrolled 40 patients with medically treated MTLE-HS and retrospectively collected the following data from prospective databases: sex, febrile seizures, central nervous system infection, history of head trauma, cognitive impairment, psychiatric disturbances, history of status epilepticus, age at onset of epilepsy, aura, seizure type and frequency, electroencephalography abnormalities, HS side, AEDs, global cognitive status, and neuropsychological functions such as cognitive processing speed, attention and executive functions, verbal and visual memory, language, and visuospatial ability. These factors were compared between patients who achieved seizure control (no seizures or a >50% reduction in seizure frequency) with AED treatment and those who continued with poor seizure control (increase or no change in frequency or <50% reduction) after starting treatment. RESULTS: The factors associated with poor seizure control in the multivariate analysis were >2seizures per month before treatment (odds ratio [OR] 3.2, 95% confidence interval [CI] 1.2-4.8, p=0.04), moderate or severe cognitive impairment (OR 2.1, 95% CI 1.8-7.6, p=0.02), and impairment of >2 neuropsychological functions (OR 2.88, 95% CI 2-6.6, p=0.04). No associations were observed between poor seizure control and specific neuropsychological function impairment. CONCLUSIONS: Poor seizure control in MTLE-HS is associated with moderate-severe cognitive impairment but not with a specific profile of impairment. Recognizing poor prognostic features such as a high frequency of monthly seizures prior to starting AED treatment could help to identify patients with medically intractable MTLE-HS who may be good candidates for early epilepsy surgery.

[Change of therapeutic algorithm in sclerosis multiplex based on two case reports]. / Terápiás algoritmus változása sclerosis multiplexben két esettanulmány alapján.

The aim of our case reports is to demonstrate the therapeutic use and possibilities one has with alemtuzumab, should it be used either as a first or second line therapy. Our first patient's disease in the beginning seemed to be benign. It was not the case however, over several years the diesase showed high activity both radiologically and clinically, she was treated with alemtuzumab as part of an esclationbased therapeutic strategy. The second patient's disease on the other hand showed formidable activity since the very beginning both radiologically and clinically. Therefore we were facing a very disastrous prognosis on the long run, accordingly he received alemtuzumab treatment very early into his illness.

Transcranial Direct Current Stimulation in Mesial Temporal Lobe Epilepsy and Hippocampal Sclerosis.

BACKGROUND: Transcranial direct current stimulation (tDCS) has been evaluated in medication refractory epilepsy patients. The results have been inconclusive and protocols have varied between studies. OBJECTIVE: To evaluate the safety and efficacy of two protocols of tDCS in adult patients with mesial temporal lobe epilepsy and hippocampal sclerosis (MTLE-HS). METHODS: This is a randomized placebo-controlled, double-blinded clinical trial, with 3 arms, 3 sessions, 5 sessions and placebo stimulation. Frequency of seizures (SZs), interictal epileptiform discharges (IEDs) and adverse effects (AEs) were registered before and after treatment, and at 30 and 60 days follow-up. Descriptive statistics, k-related samples, Friedman's test, and relative risk (RR) estimation were used for analysis. RESULTS: We included twenty-eight subjects (3d n = 12, 5d n = 8, placebo n = 8), 16/28 (57%) men, age 37.8(±10.9) years old. There was a significant reduction of the frequency of SZs at one (p = 0.001) and two (p = 0.0001) months following cathodal tDCS compared to baseline in the 3 arms (p = 0.0001). The mean reduction of SZ frequency at two months in both active groups was significantly higher than placebo (-48% vs. -6.25%, p < 0.008). At 3 days (-43.4% vs. -6.25%, p < 0.007) and 5 days (-54.6% vs. -6.25%, p < 0.010) individual groups showed a greater reduction of SZs. A significant IED reduction effect was found between baseline and immediately after interventions (p = 0.041) in all groups. Side effects were minor. CONCLUSIONS: Cathodal tDCS technique of 3 and 5 sessions decreased the frequency of SZs and IEDs (between baseline and immediately post-tDCS) in adult patients with MTLE-HS compared to placebo tDCS.

Effect of Roux-en-Y gastric bypass and diet-induced weight loss on diabetic kidney disease in the Zucker diabetic fatty rat.

BACKGROUND: Reductions in urinary protein excretion after Roux-en-Y gastric bypass (RYGB) surgery in patients with diabetic kidney disease have been reported in multiple studies. OBJECTIVES: To determine the weight loss dependence of the effect of RYGB on urinary protein excretion by comparing renal outcomes in Zucker diabetic fatty rats undergoing either gastric bypass surgery or a sham operation with or without weight matching. SETTING: University laboratories. METHODS: Zucker diabetic fatty rats underwent surgery at 18 weeks of age. A subgroup of sham operated rats were weight matched to RYGB operated rats by restricting food intake. Urinary protein excretion was assessed at baseline and at postoperative weeks 4 and 12. Renal histology and macrophage-associated inflammation were assessed at postoperative week 12. RESULTS: Progressive urinary protein excretion was attenuated by both RYGB and diet-induced weight loss, albeit to a lesser extent by the latter. Both weight loss interventions produced equivalent reductions in glomerulomegaly, glomerulosclerosis, and evidence of renal macrophage infiltration. CONCLUSION: Weight loss per se improves renal structure and attenuates renal inflammatory responses in an experimental animal model of diabetic kidney disease. Better glycemic control post-RYGB may in part explain the greater reductions in urinary protein excretion after gastric bypass surgery.

[Treatment of chronic mediastinitis]. / Therapie der chronischen Mediastinitis.

BACKGROUND: Chronic mediastinitis is a rare disorder characterized by the proliferation of fibrous tissue within the mediastinum resulting in compression of mediastinal structures. OBJECTIVE: This article gives an overview of the treatment options for chronic mediastinitis. MATERIAL AND METHODS: A literature search was carried out regarding treatment options for chronic mediastinitis RESULTS AND CONCLUSION: Little is known about the pathogenesis of chronic mediastinitis, which has hampered the development of novel therapeutic approaches. There is no convincing evidence for the success of medicinal (antifungal or conventional anti-inflammatory) therapy and it is not recommended. In cases of clinical symptoms procedures for decompression, such as endovascular or endobronchial stents or surgical procedures, such as decompression interventions or extra-anatomic bypasses should be considered. The prognosis for unilateral involvement is better than for bilateral involvement if performed in specialized centers.

[Efficacy Observation of Chinese Herbal Fumigation Combined Western Drugs for Treating Sys- temic Sclerosis Complicated Pulmonary Arterial Hypertension].

Objective To observe the therapeutic efficacy and safety of Chinese herbal fumigation combined with leflunomide (LEF) and prednisone (Pred) in treatment of systemic sclerosis (SSc) complicated pulmonary arterial hypertension (PAH). Methods Totally 99 SSc patients complicated early PAH were randomly assigned to the Western drugs group (WD, 49 cases) and the integrative medicine group (IM, 50 cases). Patients in the WD group took LEF (20 mg) and Pred (15 mg) , once per day. In addition to routine WD program, those in the IM group additionally received Chinese herbal fumigation. All treatment lasted for 6 months. Raynaud's phenomenon (RP) was observed in each group before and after treatment. RP score, erythrocyte sedimentation rate (ESR), C reactive protein (CRP), pulmonary arterial systolic pressure (PASP) , and pulmonary function were compared between the two groups before and after treatment. The clinical efficacy and adverse reactions were evaluated. Results Thirteen cases were lost due to various reasons. A total of 86 patients completed this study, 41 in the WD group and 45 in the IM group. Compared with the same group before treatment, RP score, levels of ESR and CRP all decreased in the two groups after treatment (P <0. 05). Compared with the WM group after treatment, RP score, levels of ESR and CRP were obviously lowered in the IM group after treatment (P < 0. 05). Besides, lowered differences between post-pre-values of ESR, CRP, and PASP were more obviously higher, while elevated differences between post-pre-values of total lung capacity (TLC) and carbon monoxide diffusing capacity (DLCO) were more obviously higher in the IM group (P <0. 05). The total effective rate was 93. 33% (42/45) in the IM group, obviously higher than that in the WD group [70. 73% (29/41) , P <0. 05 ]. There was no statistical difference in total adverse reaction rate between the two groups (x² =0. 019, P =0. 891). Conclusion Chinese herbal fumigation combined with WD had obvious efficacy with less adverse reactions, so it was worth clinical spread.

Cell sheet-based tissue engineering for mesothelial cell injury.

Mesothelial cells are an integral part of the peritoneum and play an important role in maintaining its structure and functions. A number of studies have been performed to evaluate the ability of mesothelial cells to regenerate and transdifferentiate. Mesothelial cells are also involved in repairing the damage to the peritoneum as a result of surgery or peritonitis. Previous cell sheet engineering research has made it possible to transplant cells that retain their function, and stacking different types of cells in cell sheet layers has also become possible. Mesothelial cell transplantation as a means of achieving peritoneal regeneration needs to be performed under conditions in which the surface area of the visceral peritoneum is large and the area of mesothelial cell damage is small. In this chapter, we explain cell sheet engineering as a technology for transplanting cells in which a variety of intercellular adhesion and cell membrane molecules remain intact and the application of this technology to peritoneal regeneration.

Fibrosing mediastinitis mimicking sarcoidosis.

Fibrosing mediastinitis (FM), also called sclerosing mediastinitis or mediastinal fibrosis, is a rare disease characterized by excessive fibrotic reaction in the mediastinum and may compromise the airway, the great vessels and other mediastinal structures, with a morbidity directly related to the location and extent of fibrosis. The cause is not always known but is often the result of a granulomatous disease, most often the histoplasmosis. We report a 43-year-old woman with a history of tuberculosis infection 23 years ago. She attended the pulmonology clinic for cough and dyspnea. Physical examination revealed jugular venous distention at 90°. In computed tomography scan of the chest with contrast (c/c), we observed a mediastinal nodal cast provoking cava compression and obliteration of main and intermediary right lobar bronchus. The pathological examination was FM.

New fat-derived products for treating skin-induced lesions of scleroderma in nude mice.

INTRODUCTION: Scleroderma is characterized by cutaneous manifestations that mainly affect the hands, arms and face. As of today, there is no treatment for fibrotic skin lesions of scleroderma. Previously we generated and validated a model of scleroderma-like skin sclerosis in nude mice, appropriate to inject human derived products. We showed that the subcutaneous injection of micro-fat (MF), purified and injected using small caliber cannulas, have anti-fibrotic and pro-angiogenic effects and appears more suitable for the treatment of skin lesions of scleroderma compared to the gold standard (Coleman's technique or macro-fat). Here we compared the long-term efficacy of micro-fat "enriched" with other therapeutic products including the stromal vascular fraction (SVF) of fat and platelet-rich plasma (PRP) from blood in our murine model of scleroderma. METHODS: We used 72 nude mice in this study. We formed six experimental groups: Macro-fat, MF, SVF, PRP, MF + SVF, MF + PRP. This project has three phases: i) Induction of skin sclerosis by daily subcutaneous injections of bleomycin (BLM) for 4 weeks in nude mice; ii) Purification and injection of the different cell therapy products; iii) Histological analyses done 8 weeks post-injections. RESULTS: MF + SVF and MF + PRP significantly reversed dermal and epidermal sclerosis (P <0.01). Macro-fat, SVF, PRP only corrected the dermal sclerosis (P <0.05). Epidermal sclerosis was reduced in treatments containing MF (P <0.01). MF was more stable. Products containing the SVF were associated with a significant increase of the local vascularization (P <0.01). CONCLUSIONS: All tested substances were effective in treating skin-induced lesions of scleroderma with different levels of fibrosis and vascular improvement; MF derived products are more stable and SVF demonstrated better pro-angiogenic effects. The observed efficacy of this combination of products in the animal model provides a rationale for potential clinical applications to treat human disease.

Focal autoimmune pancreatitis and chronic sclerosing sialadenitis mimicking pancreatic cancer and neck metastasis.

Type 1 autoimmune pancreatitis (AIP) or chronic sclerosing sialadenitis (Küttner's tumour) is an uncommon disorder that has recently been confirmed as an IgG4-related disease. Here, we describe a rare case of a 53-year-old male patient who primarily presented with pancreatic body mass, left neck mass and several lumps in his lower lip mimicking pancreatic cancer (PC) and neck metastasis. The patient underwent pancreatic body mass and labial gland lumps resection as well as an ultrasound-guided biopsy of the left neck mass. He was diagnosed with IgG4-related focal type of AIP (f-AIP) and Küttner's tumour by immunohistochemistry. The patient responded well to corticosteroid therapy and remains healthy with no signs of recurrence at one year follow-up. The differentiation of f-AIP from PC is very important to avoid unnecessary pancreatic resection.