Neuro-ichthyotic Syndromes: A Case Series.

BACKGROUND: The neuro-ichthyotic diseases are clinically and genetically heterogeneous. The purpose of this study was to evaluate the clinical and neuroradiological findings and to analyze mutation in 15 patients with neuro-ichthyotic diseases. MATERIALS AND METHODS: We retrospectively analyzed the records of 15 patients with the diagnosis of neuro-ichthyotic diseases. RESULTS: Eight female and seven male patients (age range 11 months-52 years) were investigated. There were eight patients with Sjögren-Larsson syndrome (SLS), five patients with multiple sulfatase deficiency (MSD), one patient with Chanarin-Dorfman's syndrome, and one patient with mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratodermia (MEDNIK) syndrome. Parental consanguinity was found in all the patients except one. All patients had ichthyosis. Diagnosis was performed with genetic study. CONCLUSIONS: Because biochemical and clinical findings are variable, the diagnosis is difficult in most of the cases. Detailed skin and physical examinations are mandatory in these patients. Genetic tests are necessary for accurate diagnosis.

Pleomorphic Xanthoastrocytoma with Anaplastic Features: Retrospective Case Series.

OBJECTIVE: Pleomorphic xanthoastrocytoma (PXA) is a unique meningocerebral glioma with a relatively favorable prognosis. PXA also possesses a variant with anaplastic features (aPXA), which is associated with poor outcomes. To date, few studies have examined the clinicopathologic importance of these anaplastic features. METHODS: From 1999-2012, 8 patients with aPXA were treated at the University of California, San Francisco, California, United States. Cases were reconfirmed by neuropathology, and clinical information regarding patient demographics, tumor characteristics, and treatment outcomes was assembled. Tumors were classified as aPXA according to the World Health Organization diagnostic criteria established in 2007. RESULTS: There were 5 female and 3 male patients in our cohort, ranging in age from 4-74 years at initial diagnosis. Seizure was the most common presenting symptom (50%), and the majority of tumors arose in the frontal or temporal lobes (88%). Six patients received subtotal resection (STR), and all suffered from progression despite adjuvant radiotherapy and chemotherapy. Median time to progression was 20 months, with a 1-year progression-free survival rate of 57%. Three aPXA patients expired with a median survival of 87 months. Four patients developed disseminated disease. Three of 8 (38%) showed BRAFv600 mutation. CONCLUSION: aPXA is associated with poorer clinical outcomes compared with PXA. Gross total resection should be the goal of initial treatment. It remains unclear whether adjuvant radiation and chemotherapy are able to prevent progression or dissemination. Long-term monitoring of all patients is a critical step in management due to the potential for tumors to transform into higher-grade lesions.

Evaluation of tularaemia courses: a multicentre study from Turkey.

In this multicentre study, which is the largest case series ever reported, we aimed to describe the features of tularaemia to provide detailed information. We retrospectively included 1034 patients from 41 medical centres. Before the definite diagnosis of tularaemia, tonsillitis (n = 653, 63%) and/or pharyngitis (n = 146, 14%) were the most frequent preliminary diagnoses. The most frequent clinical presentations were oropharyngeal (n = 832, 85.3%), glandular (n = 136, 13.1%) and oculoglandular (n = 105, 10.1%) forms. In 987 patients (95.5%), the lymph nodes were reported to be enlarged, most frequently at the cervical chain jugular (n = 599, 58%), submandibular (n = 401, 39%), and periauricular (n = 55, 5%). Ultrasound imaging showed hyperechoic and hypoechoic patterns (59% and 25%, respectively). Granulomatous inflammation was the most frequent histological finding (56%). The patients were previously given antibiotics for 1176 episodes, mostly with ß-lactam/ß-lactamase inhibitors (n = 793, 76%). Antituberculosis medications were provided in seven (2%) cases. The patients were given rational antibiotics for tularaemia after the start of symptoms, with a mean of 26.8 ± 37.5 days. Treatment failure was considered to have occurred in 495 patients (48%). The most frequent reasons for failure were the production of suppuration in the lymph nodes after the start of treatment (n = 426, 86.1%), the formation of new lymphadenomegalies under treatment (n = 146, 29.5%), and persisting complaints despite 2 weeks of treatment (n = 77, 15.6%). Fine-needle aspiration was performed in 521 patients (50%) as the most frequent drainage method. In conclusion, tularaemia is a long-lasting but curable disease in this part of the world. However, the treatment strategy still needs optimization.

Tularemia in central Anatolia.

BACKGROUND: Tularemia is a bacterial zoonosis with diverse clinical manifestations depending on bacterial subspecies and the route of the infection. METHODS: We collected data prospectively of cases diagnosed and treated for tularemia in our institution during the epidemics from December 2009 to August 2011. Specific antibodies were screened by a microagglutination test. Throat swab and lymph node aspirate cultures were obtained and polymerase chain reaction (PCR) was performed on these specimens. Lymph nodes were characterized on the basis of ultrasound reports. RESULTS: A total of 139 patients were confirmed with tularemia. The age range of the patients was 6-83 years (mean: 43) and 84 (60.4 %) of them were females. Patients had clinical presentations compatible with oropharyngeal (74 %), glandular (15.8 %), and oculoglandular (5.0 %) tularemia. Ultrasonography (US) was performed in 108 patients. Antibiotics (aminoglycosides, quinolones, and doxycycline) were used in 138 patients. Fine-needle aspiration (FNA) or surgical drainage of fluctuant lymph nodes were performed in 51 (39 %) patients. Therapeutic failure was observed in 43 (30.9 %) patients. Elevation of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels were observed to be significantly higher in patients with therapeutic failures (p = 0.003 and 0.004, respectively). The success rate was significantly higher in patients with early treatment (p = 0.004). No difference was found between the effectiveness of aminoglycoside or quinolone treatments. The increase in the short and long axes, and the characteristics of lymph nodes detected on US were significantly associated with treatment failures (p < 0.001). Intranodal necrosis was found in 45 patients. The treatment success rate was 40 % in patients with intranodal necrosis. CONCLUSION: To the best of our knowledge, this is the first study defining the US findings of patients with tularemia and its association with treatment success. Ciprofloxacin is an effective and convenient choice in epidemics of tularemia and early treatment is still the cornerstone of successful therapies.