Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile niemann-pick type C

Background: Niemann-Pick disease type C (NPC) is a lysosomal storage disease caused by mutations in NPC1 or NPC2 genes. Case presentation: We present two brothers with the same compound heterozygous variants in exon 13 of the NPC1 gene (18q11.2), the first one (c.1955C> G, p. Ser652Trp), inherited from the mother, the second (c.2107T>A p.Phe703Ile) inherited from the father, associated to the classical biochemical phenotype of NPC. The two brothers presented unspecific neurologic symptoms with difference in age of onset: one presented and previously described dyspraxia and motor clumsiness at age 7 years, the other showed a systemic presentation with hepatosplenomegaly noted at the age of two months and neurological symptoms onset at age 4 with speech disturbance. Clinical evolution and neuroimaging data led to the final diagnosis. Systemic signs did not correlate with the onset of neurological symptoms. Miglustat therapy was started in both patients. Conclusions: We highlight the extreme phenotypic heterogeneity of NP-C in the presence of the same genetic variant and the unspecificity of neurologic signs at onset as previously reported. We report some positive effects of miglustat on disease progression assessed also with neuropsychological follow-up, with an age-dependent response

Detection of EGFR-Activating and T790M Mutations Using Liquid Biopsy in Patients With EGFR-Mutated Non–Small-Cell Lung Cancer Whose Disease Has Progressed During Treatment With First- and Second-Generation Tyrosine Kinase Inhibitors: A Multicenter Real-Life Retrospective Study

Epidermal growth factor receptor T790M detection using liquid biopsy was evaluated in a real-life setting in 120 advanced non–small-cell lung cancer patients whose disease had progressed during first- or second-generation tyrosine kinase inhibitors. The T790M detection rate was 25.8% using liquid biopsy and 49.2% after tissue rebiopsy. Liquid biopsies performed before disease progression according to Response Evaluation Criteria In Solid Tumors were all negative for T790M and T790M positivity was higher in cases of extrathoracic metastatic sites

High grade B-cell gastric lymphoma with complete pathologic remission after eradication of helicobacter pylori infection: Report of a case and review of the literature

<p>Abstract</p> <p>Background</p> <p>Treatment of primary gastric diffuse large B-cell lymphoma is still controversial. The treatment of localized disease was based on surgery alone, or followed by chemotherapy and/or radiotherapy. High-grade gastric lymphomas are generally believed to be <it>Helicobacter pylori </it>(HP)-independent growing tumors. However a few cases of regression of high-grade gastric lymphomas after the cure of <it>Helicobacter pylori </it>infection had been described.</p> <p>Case presentation</p> <p>We report here a case with primary diffuse large B-cell lymphoma that showed a complete pathologic remission after HP eradication and we reviewed the literature. A computerized literature reach through Medline, Cancerlit and Embase were performed, applying the words: high grade gastric lymphoma, or diffuse large B cell, MALT gastric lymphoma, DLBCLL (MALT) lymphoma and Helicobacter. Articles and abstracts were also identified by back-referencing from original and relevant papers. Selected for the present review were papers published in English before January 2007.</p> <p>Conclusion</p> <p>Forty two cases of primary high grade gastric lymphoma that regressed with anti HP treatment were found. There were anedoctal cases reported and patients belonging to prospective studies; four trials studied the effect of eradication of <it>Helicobacter pylori</it> as first line therapy in high grade gastric lymphoma: 22 of a total of 38 enrolled patients obtained complete remission. Depth of gastric wall infiltration and clinical stage were important factors to predict the response to antibiotic therapy. Our case and the review of the literature show that high-grade transformation is not necessarily associated with the loss HP dependence. In early stage, for high-grade B-cell HP-positive gastric lymphomas, given the limited toxicity of anti-HP therapy, this treatment may be considered as one of the first line treatment options.</p

Autologous bone marrow stem cell intralesional transplantation repairing bisphosphonate related osteonecrosis of the jaw

<p>Abstract</p> <p>Purpose</p> <p>Bisphosphonate - related osteonecrosis of the JAW (BRONJ) is a well known side effect of bisphosphonate therapies in oncologic and non oncologic patients. Since to date no definitive consensus has been reached on the treatment of BRONJ, novel strategies for the prevention, risk reduction and treatment need to be developed. We report a 75 year old woman with stage 3 BRONJ secondary to alendronate and pamidronate treatment of osteoporosis. The patient was unresponsive to recommended treatment of the disease, and her BRONJ was worsening. Since bone marrow stem cells are know as being multipotent and exhibit the potential for differentiation into different cells/tissue lineages, including cartilage, bone and other tissue, we performed autologous bone marrow stem cell transplantation into the BRONJ lesion of the patient.</p> <p>Methods</p> <p>Under local anesthesia a volume of 75 ml of bone marrow were harvested from the posterior superior iliac crest by aspiration into heparinized siringes. The cell suspension was concentrated, using Ficoll - Hypaque^®centrifugation procedures, in a final volume of 6 ml. Before the injection of stem cells into the osteonecrosis, the patient underwent surgical toilet, local anesthesia was done and spongostan was applied as a carrier of stem cells suspension in the bone cavity, then 4 ml of stem cells suspension and 1 ml of patient's activated platelet-rich plasma were injected in the lesion of BRONJ.</p> <p>Results</p> <p>A week later the residual spongostan was removed and two weeks later resolution of symptoms was obtained. Then the lesion improved with progressive superficialization of the mucosal layer and CT scan, performed 15 months later, shows improvement also of bone via concentric ossification: so complete healing of BRONJ (stage 0) was obtained in our patient, and 30 months later the patient is well and without signs of BRONJ.</p> <p>Conclusion</p> <p>To our knowledge this is the first case of BRONJ successfully treated with autologous stem cells transplantation with a complete response.</p

Obstructive symptoms associated with the 9.75-cm Lap-Band® in the first 24 hours using the pars flaccida approach

Background: For some patients, especially those with a higher BMI, a non-selective Lap-Band® placement using the pars flaccida approach with application of the small-diameter bands (9.75 and 10 cm) may be too tight or may require significant gastroesophageal junction dissection and thinning. In such a case, the major perioperative complication is acute obstruction immediately after surgery. We review the etiology of obstructive complications that present postoperatively in the first 24 hours. Case Reports: Acute postoperative stoma obstruction (esophageal outlet stenosis) was observed in 5 patients who underwent 9.75-cm Lap-Band® placement for morbid obesity. 2 of these patients had a postoperative upper GI series showing a misplaced band with gastric slippage, and repeat operation was required. 3 patients had gastric obstruction without slippage. Of the latter, 1 patient insisted that the band be removed rather than being replaced with a longer one, and the remaining 2 were managed with conservative treatment, involving extended hospitalization until the edema subsided and the patient slowly regained the ability to swallow. Conclusion: Obstructive symptoms associated with the Lap-Band® using the pars flaccida approach can be addressed conservatively in most patients or by minimally invasive surgery; however we believe that routine use of the 11-cm Lap-Band® for the pars flaccida approach could easily prevent this early complication