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Terms modified by Complete Clinical Selected AbstractsRett Syndrome and long-term disorder profileJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 10 2008E. Smeets Since the identification of mutations in MECP2 in females with clinical Rett syndrome, numerous efforts have been made to understand phenotype-genotype relationships. Most of these studies were conducted by examining the type and localization of these mutations in the gene in relation to clinical severity. It seemed unsatisfactory, in view of the age range and variable severity, to look only at the type and localization of the mutation in MECP2 in trying to establish a phenotype/genotype relationship. Describing each RTT individual after a long term follow up and grouping females with the same disorder history and same MECP2 mutation is therefore appropriate. Complete clinical and molecular data were obtained on 103 females. The guidelines for reporting manifestations common in Rett syndrome were used in the evaluation of clinical severity. The individuals were grouped according to similar disorder profiles on long-term follow up. In a cohort of 103 females clinically diagnosed with Rett syndrome, 91 had a detectable MECP2 mutation. 60% still sit and walk. Hand use is preserved or reduced in 44%. Speech has been lost in the majority (87%). Epilepsy was problematic in about 30%. Scoliosis, severe kyphosis or a combination of both was present in 27%, needing surgery in 13%. Description of the profile of the disorder and long-term clinical history facilitated the grouping of females with the same MECP2 mutation and a similar history. This approach will contribute more to the understanding of the ongoing pathology in Rett syndrome relative to the specific character of the involved MECP2 mutation. Some examples of these disorder profiles will be discussed. [source] Complete resolution of a squamous cell carcinoma of the skin using intralesional 5-aminolevulinic acid photodynamic therapy intralesional PDT for SCCPHOTODERMATOLOGY, PHOTOIMMUNOLOGY & PHOTOMEDICINE, Issue 5 2010Eleni Sotiriou We present an 82-year-old female patient with a 2-year history of an infiltrative squamous cell carcinoma (SCC) on her right cheek. The patient was treated with one intralesional photodynamic therapy (PDT) session using 10% 5-aminolevulinic acid solution. We used red light by a non-coherent light source at a light dose of 100 J/cm2 and a fluency rate of 100 mW/cm2. Complete clinical and histological response was achieved 3 months after the treatment procedure. Cosmetic outcome was evaluated as fair. The patient remains disease free with the absence of any clinical sign of recurrence 16 months after PDT. Long-term follow-up is needed for assessment of recurrences. Optimization of the therapeutic protocol, as well as justification of our results in larger studies are needed in order to elicit safe conclusions. [source] Does chloroquine therapy of porphyria cutanea tarda influence liver pathology?INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 11 2009U Wollina MD Background, Porphyria cutanea tarda (PCT) is regularly associated with changes in liver tissue. On the other hand, systematic investigations are lacking on whether there is a correlation between the severity of liver damage and chloroquine treatment. Patients and methods, During a 20-year period, liver biopsies were obtained in 89 patients with PCT confirmed by biochemical analysis of urine and feces and low-dose chloroquine therapy. Seventeen patients with alcohol-induced liver disease were excluded. In 8 of 63 patients, only a single biopsy was available. Classification of liver damage was performed according to the Riedel score. Electron microscopy was available from 24 patients. In a second group of patients, the HFE status was investigated and Berlin blue stains of liver biopsies were performed. Results, There was no correlation between the duration of cutaneous symptoms and liver pathology. After 12 months chloroquine treatment, 45 patients (81%) disclosed an improvement of liver pathology, nine (16%) had no change, and a worsening was observed in one patient (3%). All patients achieved a complete clinical and biochemical remission. In 13 of 16 patients with a relapse, there was again a deterioration of liver damage. Patients with HFE mutations had a significant higher risk (P < 0.05) for hepatic siderosis. Conclusions, The severity of liver damage was not correlated with the disease duration. Chloroquine treatment resulted in PCT remission (clinical and biochemical) and in 81% to an improvement of liver morphology. [source] The association of gingivitis and periodontitis with ischemic strokeJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 5 2004Christof E. Dörfer Abstract Objectives: The aim of this study was to assess the associations of different periodontal parameters with cerebral ischemia. Methods: In a case,control study, 303 consecutive patients with ischemic stroke or transient ischemic attack, and 300 representative population controls received a complete clinical and radiographic dental examination. Patients were examined on average 3 days after ischemia. The individual mean clinical attachment loss measured at four sites per tooth was used as indicator variable for periodontitis. Results: Patients had higher clinical attachment loss than population (p<0.001). After adjustment for age, gender, number of teeth, vascular risk factors and diseases, childhood and adult socioeconomic conditions and lifestyle factors, a mean clinical attachment loss >6 mm had a 7.4 times (95% confidence interval 1.55,15.3) a gingival index >1.2 a 18.3 times (5.84,57.26) and a radiographic bone loss a 3.6 times (1.58,8.28) higher risk of cerebral ischemia than subjects without periodontitis or gingivitis, respectively. Conclusion: Periodontitis is an independent risk factor for cerebral ischemia and acute exacerbation of inflammatory processes in the periodontium might be a trigger for the event of cerebral ischemia. [source] Endobronchial actinomycosis associated with a foreign bodyRESPIROLOGY, Issue 3 2000James C. M. Ho Abstract: Primary endobronchial actinomycosis is an exceedingly rare condition which closely mimics bronchial carcinoma both clinically and radiologically. We report the case of a middle-aged Chinese man who had right lower lobe endobronchial actinomycosis associated with inhalation of a presumed chicken bone. The patient made a complete clinical and radiological recovery after a 2 month combined course of amoxycillin and clavulanate, after removal of the foreign body, which was only detected after using contiguous computed tomography. Our experience in the management of this patient should help clinicians in the investigation and management of this rare but treatable condition. [source] Pulmonary Recovery After Rigid Bronchoscopic Retrieval of Airway Foreign BodyTHE LARYNGOSCOPE, Issue 2 2007Man Ki Chung MD Abstract Objective: The aim of this study was to determine how long postoperative pulmonary care is needed in patients after rigid bronchoscopic retrieval of foreign body from the airway and to identify the factors affecting pulmonary recovery. Materials and Method: A retrospective review of 98 pediatric patients who had foreign body removed from the airway by rigid bronchoscopic procedure was conducted. After the removal of the foreign body, the time required for complete clinical and radiologic pulmonary recovery was reviewed for each subject. Factors examined included age, sex, preoperative symptoms, preoperative radiologic findings, duration between the aspiration event and treatment, the type of foreign body, the location of foreign body impaction, operation time, immediate postoperative radiologic changes, and treatment outcome. Results: More than 1 week for the complete pulmonary recovery was required in 25 (25.5%) cases, whereas 74.5% of subjects fully recovered within 1 week after the removal of foreign body. In the univariate analysis, preoperative inflammatory symptoms, and radiologic findings, an operation time of over 50 minutes and the aggravation of immediate postoperative radiologic findings predicted a delayed pulmonary recovery (more than 1 week). In the multivariate analysis, three of four variables previously noted, except preoperative inflammatory symptoms, showed significant predictability for a delayed pulmonary recovery. Conclusion: The recovery time of more than 1 week after rigid bronchoscopic retrieval of airway foreign body was associated with preoperative inflammatory findings by radiologic study, a prolonged procedure over 50 minutes, and aggravation of the immediate postoperative radiologic findings. Therefore, long-term pulmonary care is required for this group of patients. [source] A short low-dose imatinib trial allows rapid identification of responsive patients in hypereosinophilic syndromesBRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2009Tamara Intermesoli Summary Although imatinib may be effective in hypereosinophilic syndromes, the exact response kinetics are not known. Imatinib was administered at 100,400 mg/d each week in a 12-week response-oriented schedule, targeting a complete clinical and haematological remission (CR). CR was achieved in 11/23 patients (6/6 with FIP1L1 - PDGRFA rearrangement and 5/17 without, P = 0·006), most after 2 weeks of 100 mg/d imatinib. The maximum imatinib dose had no effect in early unresponsive patients. Low-dose, short-course imatinib may represent a rational choice for identifying responsive cases, both within and outside the pre-defined FIP1L1 rearrangement subset. [source] ChlVPP/ABVVP, a first line ,hybrid' combination chemotherapy for advanced Hodgkin's lymphoma: a retrospective analysisBRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2004G. Martinelli Summary We retrospectively analysed toxicities and clinical results of 61 Hodgkin's lymphoma patients treated with chlorambucil, vinblastine, procarbazine, doxorubicin, bleomycin, vincristine and etoposide (ChlVPP/ABVVP), delivered in a weekly alternate schedule. Of 61 patients, 33 were in stages III,IV, 21 in stage IIB and seven in stage IIA with bulky disease or extranodal presentation. ChlVPP/ABVVP was administered for 6,8 cycles. Involved field radiotherapy (IFRT) (30,35 Gy) was delivered to 31 patients with residual disease after chemotherapy or bulky disease at diagnosis. Of 61 patients, 58 (95%) achieved complete clinical or radiological remission after chemotherapy and IFRT. With a median follow-up of 60 months, 5-year overall survival, relapse- and event-free survival were 78·8% (95% CI 68·2,91·1%), 81% (95% CI 70·6,92·2%) and 71·9% (95% CI 68·2,82·2%) respectively. Grades 3,4 neutropenia was the most relevant haematological toxicity and occurred in 82% of patients. Non-haematological toxicities were mild and reversible. No toxic deaths were recorded. One patient developed secondary acute myeloid leukaemia 1 year after ChlVPP/ABVVP. Due to the retrospective nature of this study, no definitive conclusions could be drawn about the clinical activity of ChlVPP/ABVVP. Nonetheless, clinical results seem better than those reported with standard regimens [ABVD (doxorubicin, bleomycin, vincristine, dacarbazine), MOPP (methotrexate, vincristine, procarbazine, prednisone), MOPP/ABVD] and as good as those reported using standard or escalated BEACOPP (bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine and prednisone), with a lower degree of haematological and non-haematological toxicity. Long-term results of the ongoing randomized trial, comparing ABVD versus high-dose intensity weekly regimens will be useful to confirm our results. [source] Investigation of vasculogenic mimicry in sebaceous carcinoma of the eyelidACTA OPHTHALMOLOGICA, Issue 5 2010Xiaofang Xu Abstract. Purpose:, Vasculogenic mimicry (VM) is a newly proposed pattern of tumour angiogenesis that has been identified in some malignancies and is associated with poor prognosis. The purpose of this study was to investigate whether sebaceous carcinomas of the eyelid exhibit VM and to determine whether these fluid-conducting patterns are associated with clinicopathologic features, the number of microvessels and the levels of endothelial growth factor (VEGF) and matrix metalloprotease-2 (MMP-2) in tumours. Methods:, Forty paraffin-embedded samples of sebaceous carcinoma of the eyelid were collected, along with complete clinical and pathologic data for all the cases. Tissue sections were stained for CD34, periodic acid and Schiff (PAS), VEGF and MMP-2. VM was identified by the presence of PAS-positive and CD34-negative loops lined by tumour cells. The VM status of tumour samples was compared with the clinical and pathological data using statistical tests. The levels of VEGF, MMP-2 and the number of microvessels were compared between patients with and without VM. Results:, VM was detected in 14 of 40 (35%) tumour samples. The existence of VM in tumours was associated with tumour size (p = 0.007) and recurrence (p = 0.021). The number of microvessels was lower in tumours with VM (13.03 ± 4.02 versus 22.99 ± 7.72; p < 0.0001). The staining index of MMP-2 was higher in tumours with VM (27.43, range: 0,5.3) compared to tumours without VM (16.77, range: 0,2.7; p = 0.004). However, there was no difference in the expression of VEGF between groups with and without VM (p = 0.244). Conclusions:, Vasculogenic mimicry is present in sebaceous carcinoma of the eyelid making it an unfavourable prognosis sign. MMP-2 is associated with VM formation in sebaceous carcinoma of the eyelid. [source] |