Recurrent torticollis secondary to Langerhans cell histiocytosis: a case report

Torticollis is a common clinical sign encountered by pediatricians and orthopaedic surgeons in a wide spectrum of childhood conditions ranging from benign to life-threatening. We report the case of a child with recurrent torticollis caused by Langerhans Cell Histiocytosis (LCH). The patient was a 1-year-old boy with recurrent torticollis, followed by a painless swelling over the right temporal bone. The diagnosis was confirmed by an open biopsy of the calvarial lesion. As LCH is a very rare cause of torticollis it was not considered in the initial differential by the primary care physicians and the diagnosis was delayed about 4 months. The patient received chemotherapy with steroids and etoposide for 52 weeks. He showed complete regression of the sign and imaging tests at the end of treatment were normal. No relapse of symptoms occurred during a follow-up period of 2 years. The rarity of this disease as well as the site and form of presentation are emphasised to alert physicians for an early diagnostic evaluation, which is important to prevent neurological lesions and other late complications.     

Correlation of her-2/neu gene amplification with other prognostic and predictive factors in female breast carcinoma

The purpose of this study was to determine if any relationship exists between Her-2/neu gene amplification and estrogen receptor (ER), progesterone receptor (PR), MIB-1, grade, size and age in female breast cancer. Five hundred and eighteen female patients with invasive breast carcinoma, 390 ductal and 128 lobular, in which assessment of Her-2/neu amplification by fluorescence in-situ hybridization (FISH) has been performed, were reviewed retrospectively. Each patient was further assessed for ER, PR, MIB-1, grade, size and age at diagnosis. Chi-square analysis was then used to correlate the above observations. Overall gene amplification was seen in 76 (15%) of the cases, 68 (17%) were ductal and 8 (6%) were lobular. Her-2/neu gene was amplified in 37 (10%) out of 379 ER positive cases and in 39 (28%) out of 139 ER negative cases. Her-2/neu was amplified in 22 (7%) out of 301 PR positive cases and in 54 (25%) out of 217 PR negative cases. Amplification occurred in 18 (8%) out of 222 negative MIB-1 cases and amplified in 58 (20%) out of 296 positive cases. Amplification was seen in 5 (10%) out of 49 grade I tumors, 17 (12%) out of 143 grade II tumors and 54 (27%) out of 198 grade III tumors. Lobular carcinomas were not graded. Amplification was present in 52 (15%) out of 346 T1 lesions, in 17 (13%) out of 130 T2 lesions, in 5 (17%) out of 30 T3 lesions and in 2 (17%) out of 12 T4 lesions. Her-2/neu was amplified in 67 (14%) out of 467 woman 41 years and older, and in 9 (18%) out of 51 women 40 years and younger. Comparison of these frequencies using chi-square test revealed statistically significant correlation between Her-2/neu amplification and ductal versus lobular carcinoma (p<0.0003), ER (p=0.0001) and PR (p<0.0001) negative tumors, over-expression of MIB-1 (p<0.0005) and high tumor grade (p=0.0009), while size of the tumor (p=0.08) and age of the patients (p=0.67) were not statistically significant. Correlation was found between Her-2/neu amplification and tumor type, high histological grade, ER and PR negative tumors, and high proliferative MIB-1 index. No correlation was found between size of the tumor and age of the patient with Her-2/neu amplification.     

Ross-Konno procedure in neonates: report of three patients

The Ross-Konno procedure, applied to neonates with severe left ventricular outflow tract (LVOT) obstruction, offers a satisfactory solution in fully releasing the LVOT gradient, and in replacing the aortic valve with a pulmonary autograft with an excellent growth potential. We reported on three recent neonatal cases.     

Expression of cyclins D1, D3 and p27 in thymic epithelial tumors

In this study, the expression of cyclins D1 and D3, as well as cyclin-dependent kinase inhibitor p27 in thymic epithelial tumors (thymomas) is examined. Histological specimens from 24 patients (11 males and 13 females) were submitted to classification according to WHO criteria. Staining for cyclins D1, D3 and p27 was applied and evaluation was performed for expression of D1, D3 and p27. Eighteen patients presented low-grade thymomas (nine B1, predominantly cortical; three B2, cortical; six B3, well-differentiated thymic carcinoma) and six patients benign thymomas (four A-medullary, two AB-mixed). The p27 expression in patients with benign thymomas was 42+/-26%, whereas in patients with low-grade thymoma, it was 11+/-13%. The expression of cyclins D1 and D3 was 2.8+/-2.7 and 10+/-6% for benign as well as 8.3+/-9.6 and 12+/-10% for low-grade thymomas, respectively. A statistically significant difference was revealed regarding the p27 expression through different grades (analysis of variance P-value 0.00076) and histopathological types of thymomas (P=0.0047). This finding of greater p27 expression in benign thymomas with progressive reduction in higher grades is compatible with observations on other soft tissue and solid tumors suggesting that p27 level decreases during tumor development and progression.     

Primary gastric Burkitt lymphoma in childhood: associated with Helicobacter pylori?

BACKGROUND: This retrospective study was designed to estimate the incidence of primary gastric non-Hodgkin lymphoma (NHL) in childhood and the possible association with Helicobacter pylori (H. pylori). PROCEDURE: We reviewed and analyzed the charts of 135 patients with NHL that were diagnosed and treated in a single oncology unit during the last 20 years. RESULTS: Only two patients, 5 and 12 years old, with primary gastric NHL were found. Upper gastroduodenal endoscopy detected an ulcer in the lesser curvature of the body of the stomach, in both cases. Endoscopy revealed a moderate chronic gastritis in the antrum of both patients that was H. pylori associated in one of them who also suffered from chronic gastritis. Biopsy specimens demonstrated infiltration by Burkitt lymphoma (BL). The two patients received chemotherapy for 6 months. Additionally, one of the two patients received a triple therapy regimen with bismuth, amoxicillin, and metronidazole for H. pylori. Fifteen and six years later they are in complete remission, free of symptoms. CONCLUSIONS: Primary gastric NHL in childhood is rare. It was found in fewer than 2% of our NHL patients. The temporal relationship between the H. pylori infection and BL suggest a causative link between these two events.     

Advanced intrahepatic cholangiocarcinoma in hepatitis C virus-related decompensated cirrhosis: case report and review of the literature

A 75-year-old man with no known previous liver disease was admitted to our institution because of right pleural effusion, backache, and pain in the upper right quadrant. Physical and laboratory work-up revealed decompensated liver cirrhosis. Spiral computed tomography (CT) showed a 6-cm tumour in the right liver lobe. Serum levels of aminotransferases, prothrombin time, total bilirubin, alphafetoprotein and carcinoembryonic antigen were within normal limits. However, the patient had elevated cholestatic enzymes, diffuse hypergammaglobulinaemia, a six-fold increase in carbohydrate antigen 19-9 (CA 19-9), cryoglobulinaemia, and reactivity against hepatitis C virus (anti-HCV). Although hepatocellular carcinoma is the most common cancer in a cirrhotic patient with chronic viral hepatitis, the investigation revealed the presence of intrahepatic cholangiocarcinoma (ICC). This is a less frequently occurring primary liver tumour, the aetiology and pathogenesis of which remain unclear in the majority of cases. The coexistence of HCV liver disease and ICC might be an incidental finding, but recently some reports have shown a relatively high incidence of this tumour in patients with HCV-related cirrhosis. The current aspects regarding ICC prevalence in HCV patients, the possible aetiopathogenetic links between this tumour and HCV, and the importance for ICC detection and characterization using the enhancement patterns with quadruple-phase spiral CT scan are also discussed.     

Systemic delivery of human microdystrophin to regenerating mouse dystrophic muscle by muscle progenitor cells

Cell-based therapy for Duchenne muscular dystrophy patients and mdx mice has proven to be a safe but ineffective form of treatment. Recently, a group of cells called muscle side population (SP) cells have been isolated based on their ability to efflux the DNA-binding dye Hoechst. To understand the potential of skeletal muscle SP cells to serve as precursors for muscle, SP cells from the two mice strains mdx(5cv) and C57BL/6N were isolated, transduced, and transplanted. Under coculture conditions with myogenic cells, some cells within the SP cell population can give rise to early Pax7-positive satellite cells and other later stage myogenic cells. Transduced SP cells were transplanted via the tail vein and were shown to successfully deliver enhanced GFP and human microdystrophin to the skeletal muscle of nonirradiated mdx(5cv) mice, thus demonstrating their ability to travel through the capillaries and enter into damaged muscle. These results demonstrate that i.v. delivery of genes via SP cells is possible and that these SP cells are capable of recapitulating the myogenic lineage. Because this approach shows definitive engraftment by using autologous transplantation of noninjured recipients, our data may have substantial implications for therapy of muscular dystrophy.     

Nerve ultrasound protocol in differentiating chronic immune‐mediated neuropathies

Introduction: In this study we evaluated a new neuropathy ultrasound protocol (NUP) for differentiating chronic immune‐mediated neuropathies. Methods: The NUP was evaluated in 110 patients with clinical presentations of chronic immune‐mediated neuropathy. All patients were first evaluated clinically and electrophysiologically and divided into 4 polyneuropathy groups: (a) symmetric demyelinating; (b) symmetric axonal; (c) asymmetric demyelinating; and (d) asymmetric axonal. During step 2, the NUP was evaluated prospectively for all 4 study groups. Results: Overall, the NUP led to correct classification in 42 of 49 (85.7%) patients with chronic inflammatory demyelinating polyneuropathy (CIDP), 13 of 15 (86.9%) with multifocal motor neuropathy (MMN), and 5 of 5 (100%) with multifocal‐acquired demyelinating sensory and motor neuropathy (MADSAM). The NUP had >80% sensitivity and specificity in distinguishing CIDP, MMN, and MADSAM in all 4 study groups. Conclusions: The NUP is a useful addition in the differential diagnosis of chronic immune‐mediated neuropathies in everyday practice. Muscle Nerve 54 : 864–871, 2016