Characteristics and prognosis of jejunoileal gastrointestinal stromal tumours (GISTs) in the era of imatinib: a comparative study with gastric GISTs

Backgroung Gastrointestinal stromal tumours (GISTs) located in the jejunum or ileum (JI-GIST) are considered worse prognosis compared to those of gastric (G-GIST) location. It has been suggested that this dogma should be revised. The aim of this study was to describe the characteristics of jejunoileal GISTs and its prognosis and to compare them with G-GISTs in the era of imatinib. Methods We retrospectively reviewed the clinical histories of all the patients diagnosed with GISTs between January 2000 and November 2016: Clinical and pathological data, as recurrence, metastatic state, disease-free survival (DFS) as well as overall survival (OS) rates of patients were reviewed. Results JI-GIST patients comprise 29 cases (37.7%). Compared to G-GIST, JI-GIST patients had undergone emergency surgery more frequently (37.9% vs. 10.4%, p = 0.007). According to the NIH-Fletcher classification, the low or very-low risk group represents 17.2% of JI-GISTs as opposed to 37.6% of G-GISTs (p < 0.005). When the AFIP-Miettinen system was used the low or very-low group represented 17.2% of JI-GISTs vs. 58.4% in the G-GISTs group (p < 0.001). Both local recurrence (24.1% vs. 12.5%, p < 0.05) and metastatic rate (34.5% vs. 22.9%, p < 0.05) were higher in the JI-GIST group than in G-GIST. 5- and 10-year DFS and 10-year OS rate were lower for JI-GIST (54.5% and 39.6% vs. 77.2% and 60.8%, and 57.9% vs. 65%, respectively, p < 0.05). Conclusions The observed differences between both groups in DFS and OS rates at long term could be attributed to the effect of imatinib (AU)

Characteristics and prognosis of jejunoileal gastrointestinal stromal tumours (GISTs) in the era of imatinib: a comparative study with gastric GISTs.

BACKGROUND: Gastrointestinal stromal tumours (GISTs) located in the jejunum or ileum (JI-GIST) are considered worse prognosis compared to those of gastric (G-GIST) location. It has been suggested that this dogma should be revised. The aim of this study was to describe the characteristics of jejunoileal GISTs and its prognosis and to compare them with G-GISTs in the era of imatinib. METHODS: We retrospectively reviewed the clinical histories of all the patients diagnosed with GISTs between January 2000 and November 2016: Clinical and pathological data, as recurrence, metastatic state, disease-free survival (DFS) as well as overall survival (OS) rates of patients were reviewed. RESULTS: JI-GIST patients comprise 29 cases (37.7%). Compared to G-GIST, JI-GIST patients had undergone emergency surgery more frequently (37.9% vs. 10.4%, p = 0.007). According to the NIH-Fletcher classification, the low or very-low risk group represents 17.2% of JI-GISTs as opposed to 37.6% of G-GISTs (p < 0.005). When the AFIP-Miettinen system was used the low or very-low group represented 17.2% of JI-GISTs vs. 58.4% in the G-GISTs group (p < 0.001). Both local recurrence (24.1% vs. 12.5%, p < 0.05) and metastatic rate (34.5% vs. 22.9%, p < 0.05) were higher in the JI-GIST group than in G-GIST. 5- and 10-year DFS and 10-year OS rate were lower for JI-GIST (54.5% and 39.6% vs. 77.2% and 60.8%, and 57.9% vs. 65%, respectively, p < 0.05). CONCLUSIONS: The observed differences between both groups in DFS and OS rates at long term could be attributed to the effect of imatinib.

Additional malignancies in patients with gastrointestinal stromal tumors (GIST): incidence, pathology and prognosis according to a time of occurrence-based classification.

BACKGROUND: The aim of the study is to clarify if a classification based on the time of occurrence of associated malignancies in GIST patients can help in the understanding of the clinical controversies observed in these patients. METHODS: We retrospectively reviewed all the patients diagnosed with GIST tumors between January 1999 and October 2016. They were divided into GIST patients associated with other tumors (A-GIST) and those not associated (NA-GIST). A-GIST patients were also divided into four types according to the proposed classification. RESULTS: Of 104 GIST patients, 32 (30.7%) (A-GIST group) had at least one additional primary malignancy. The most frequent location of the associated malignancy was the GI tract (26%). Compared to NA-GIST, A-GIST were more often asymptomatic with a lower risk of recurrence. The main cause of death in NAGIST was GIST itself, being associated tumors the main cause of death in A-GIST group. No differences were found in DFS and OS between A-GIST and NA-GIST. CONCLUSIONS: The use of the proposed classification classifies GIST patients with associated malignancies in different subtypes that differ substantially in terms of incidence, type of neoplasms associated, cause of the association and prognosis.

Are prognostic scoring systems of value in patients with follicular thyroid carcinoma?

PURPOSE: Most prognostic systems for differentiated carcinoma have been designed for papillary carcinoma. OBJECTIVE: To analyze the value of the existing prognostic systems for evaluating follicular carcinoma and to determine whether any of them have a better predictive effect. METHODS: A total of 66 follicular carcinomas were analyzed. The following prognostic systems were studied: EORTC, AGES, AMES, MACIS, TNM, and NTCTCS. RESULTS: The AGES and AMES systems did not demonstrate a good prognostic correlation. In the EORTC system, the rate of disease-free patients was 89% in group 1, 75% in group 2, 69% in group 3, and 0% in group 4. The MACIS system showed 83, 60, 67, and 0% of disease-free patients respectively. The TNM system showed 81, 71, 50, and 0% of disease-free patients respectively. Finally, the NTCTCS system demonstrated 100, 84, 53, and 0% of disease-free patients respectively. Cox's regression analysis was used to calculate the proportion of variation in survival time explained (PVE). The prognostic classification system with the greatest survival prediction was EORTC at 67.64% of PVE, followed by TNM at 62.5% of PVE, and MACIS at 57.82% of PVE. CONCLUSIONS: MACIS and TNM are good prognostic systems for evaluating follicular thyroid carcinoma, although the one with the most prognostic value was the EORTC system.

Family recurrence and oligo-anuria predict uremic restless legs syndrome.

OBJECTIVES: To determine clinical and laboratory predictors of restless legs syndrome (RLS) in patients with end-stage kidney disease (ESKD) undergoing long-term hemodialysis (HD). MATERIALS AND METHODS: One hundred and sixty-two consecutive patients were assessed. History of sleep disturbances, neurological examination, clinical, and laboratory data were collected. Patients with and without RLS were compared, and a logistic regression model described the relations between independent predictors and RLS. RESULTS: Fifty-one patients (32%) currently had RLS (RLS+). RLS+ vs RLS- patients were more frequently women (49% vs 29%, P = 0.012), had first-degree relative with RLS (22% vs 6%, P = 0.004), insomnia (59% vs 36%, P = 0.007), peripheral neuropathy (41% vs 21%, P = 0.006), and low residual diuresis (92% vs 68% with below 500 ml/24 h, P = 0.001). Low (OR = 8.71, CI = 2.27-33.41; P = 0.002) and absent (OR = 4.96, CI = 1.52-16.20; P = 0.008) residual diuresis, peripheral neuropathy (OR = 4.00, CI = 1.44-11.14; P = 0.008), and first-degree relative with RLS (OR = 3.82, CI = 1.21-12.13; P = 0.023) significantly predicted RLS in ESKD patients undergoing HD. CONCLUSION: Positive family history for RLS together with reduced/absent residual renal function and peripheral neuropathy predicts the risk for RLS in ESKD patients undergoing HD. Longitudinal studies are warranted to correlate RLS occurrence with genetic and environmental factors.

The quality of life in patients with chronic pancreatitis evaluated using the SF-12 questionnaire: a comparative study with the SF-36 questionnaire.

BACKGROUND: In clinical practice there is the need to utilise a time saving questionnaire to assess the quality of life. AIMS: To establish the validity of the SF-12 questionnaire in chronic pancreatitis patients and to identify the predictors capable of modifying the physical and mental summaries in these patients. QUESTIONNAIRES: SF-12 and SF-36 questionnaires were used. SUBJECTS: One hundred and forty-one outpatients with proven chronic pancreatitis. The data of 141 sex- and age-matched Italian subjects of two normative groups (61,434 Italian subjects for SF-12 and 2031 Italian subjects for SF-36) were used as controls. RESULTS: Chronic pancreatitis patients had the SF-12 physical and mental component summaries significantly related to the SF-36 physical and mental component summaries (P<0.001). The presence of pancreatic pain and non-pancreatic surgery accounted for 41.3% in the formation of the PCS-36 score and 37.2% in that of the PCS-12 score, respectively. Gender, BMI and pancreatic pain accounted for 15.3% of the information in the formation of the MCS-36 and for 14.7% in that of the MCS-12; using these clinical variables, the loss of information in applying the SF-12 instead of the SF-36 was very low (4.1 and 0.6% for the PCS and the MCS, respectively). CONCLUSIONS: The SF-12 is a good alternative to the SF-36 in assessing the quality of life in chronic pancreatitis.

Quality of life in patients with chronic pancreatitis.

INTRODUCTION: Health-related quality of life is becoming a major issue in the evaluation of any therapeutic intervention in patients with chronic or hard to cure diseases. AIMS: To assess the quality of life in patients with chronic pancreatitis, the majority of whom have had the disease for a long time, and to evaluate which factors linked to the disease are able to influence the quality of life. SUBJECTS AND METHODS: A total of 190 consecutive patients (157 males, 33 females; mean age 58.6+/-12.7 years, range 18-92 years) with proven chronic pancreatitis were enrolled. The SF-36 questionnaire was used for assessing the health-related quality of life. RESULTS: The z-scores of the eight domains of the patients with chronic pancreatitis were significantly negative indicating an overall impairment of the quality of life when compared to the Italian normative sample. Pancreatic pain was the unique clinical variable able to significantly impair all eight domains of the SF-36, while Wirsung dilation and diabetes were negatively related to some physical and mental domains. The body mass index was the unique variable positively related with some SF-36 domains. CONCLUSIONS: Pain may be considered the most important factor affecting the quality of life of chronic pancreatitis patients; moreover, alimentary and metabolic factors deserve more attention in improving the quality of life of these subjects.

[A 21-year-old male patient with nephrotic syndrome and "idiopathic" AA amyloidosis]. / Varón de 21 años con síndrome nefrótico y amiloidosis AA "idiopática".

A case is reported of a 21 year old man who suffered from Castleman's disease and systemic secondary amyloidosis. He was otherwise healthy until development of a history of edema and nocturia over 3 weeks. Physical examination was normal apart from ankle swelling. Renal biopsy showed amyloid deposits in the glomerulus with gentian violet and congo red. Positive staining by antibody against serum amyloid A protein was demonstrated. Nine months later because of persistent nephrotic syndrome, an abdominal tomography was performed and a mesenteric mass was detected. The patient underwent abdominal surgery. The histopathological examination showed plasma cell variant of Castleman disease and AA amyloidosis in the mass. After the removal of mesenteric mass, the proteinuria gradually decreased and disappeared, and no systemic findings were present.

Primitive leiomyosarcoma of the breast: case report and review of the literature.

Sarcomas of the breast account for under 1% of breast tumours. Leiomyosarcomas are less common, being a subgroup of sarcomas of the breast. Only 23 cases with immunohistochemical or electron microscopy confirmation are reported in the literature. The case of a 58-year-old woman with a leiomyosarcoma 4 cm in diameter in the upper external quadrant of the right breast is presented. Mammography and sonography were compatible with a fibroadenoma or phylloides tumour, and fine-needle aspiration (FNA) suggested medullary carcinoma. The patient underwent a Madden-type modified radical mastectomy and axillary lymphadenectomy. Adjuvant chemotherapy was implemented with Adriamycin (four cycles of 21 days). One year after surgery the patient is tumour free.

Varón de 21 años con síndrome nefrótico y amiloidosis AA «idiopática» / A 21 year-old male patient with nephrotic síndrome and AA amyloidosis

Se presenta el caso de un paciente de 21 años de edad, con síndrome nefró- tico y amiloidosis renal, que consultó por edemas en los miembros inferiores y palpebrales de 3 semanas de evolución. A la exploración, salvo los edemas, no había nada a destacar, detectándose en la analítica un síndrome nefrótico. Se realizó una biopsia renal que informó de amiloidosis AA sin encontrar causa que lo justificará. Nueve meses más tarde, ante la persistencia del síndrome nefrótico, se realizó TAC abdominal donde se apreciaba la existencia de una masa que se resecó. El diagnóstico anatomopatológico fue de enfermedad de Castleman, variedad de células plasmáticas. Tras la resección de la masa desaparecieron la proteinuria y las alteraciones analíticas (AU)

A case is reported of a 21 year old man who suffered from Castleman´s disease and systemic secondary amyloidosis. He was otherwise healthy until development of a history of edema and nocturia over 3 weeks. Physical examination was normal apart from ankle swelling. Renal biopsy showed amyloid deposits in the glomerulus with gentian violet and congo red. Positive staining by antibody against serum amyloid A protein was demonstrated. Nine months later because of persistent nephrotic syndrome, an abdominal tomography was performed and a mesenteric mass was detected. The patient underwent abdominal surgery. The histopathological examination showed plasma cell variant of Castleman disease and AA amyloidosis in the mass. After the removal of mesenteric mass the proteinuria was gradually decreased and dissappeared and any sistemic findings were present (AU)

Association of keratin 8 gene mutation with chronic pancreatitis.

BACKGROUND: Keratin 8 (K8) and 18 (K18) are the major components of the intermediate filament cytoskeleton of pancreatic acinar cells and play a relevant role in pancreatic exocrine homeostasis. Transgenic mice for K8 have shown to display progressive exocrine pancreas alterations, including dysplasia, loss of acinar architecture, redifferentiation of acinar to ductal cells, inflammation, fibrosis, and substitution of exocrine tissue by adipose tissue. AIM: To investigate whether mutations in the keratin 8 gene are associated with chronic pancreatitis. METHODS: Mutations in the keratin 8 gene were determined by polymerase chain reaction/restriction fragment length polymorphism in 67 chronic pancreatitis patients and 100 normal controls. Sequence analysis was performed when necessary. RESULTS: Glycine-to-cysteine mutations at position 61 (G61C) of the keratin 8 gene were found in six patients (8.9 vs. 0%, p(c) < 0.003, odds ratio = 21.24, confidence interval = 2.74-164.42); none of the controls presented the mutation. No tyrosine-to-histidine mutations at position 53 (Y53H) were detected in any subject. CONCLUSION: G61C mutation of the keratin 8 gene, together with other environmental factors and/or genetic factors, could predispose to chronic pancreatitis, by interfering with the normal organization of keratin filaments.

Diagnosis and treatment of oculopharyngeal dystrophy: a report of three cases from the same family.

Oculopharyngeal muscular dystrophy is a hereditary pathology transmitted in an autosomal dominant manner. The clinical symptoms are palpebral ptosis, oropharyngeal dysphagia and proximal limb weakness. Upper gastro-esophageal endoscopy is recommended to study the dysphagia, a video-radiology study with barium and an esophageal manometry to study the pharyngeo-esophageal motor disorder. Muscle biopsy reveals the presence of atrophic fibers substituted by an increase in fat and connective tissue. In 1998 Brais described the genetic alteration responsible for this pathology, a limited expansion of the triplet of GCG nucleotides in PABP2 gene on chromosome 14q11. Normal individuals have the homozygotic form (GCG)6 of this triplet, whereas patients with the described syndrome have the heterozygotic form (GCG)6-(GCG)9 or (GCG)6-(GCG)10. We present three siblings from the same family with diagnoses and genetic confirmations of oculopharyngeal dystrophy. Two of the patients underwent cricopharyngeal myotomy to relieve the dysphagia.

Teachers with learning disabilities: a view from both sides of the desk.

The purpose of this qualitative multicase study was to explore the perceptions of individuals who could speak from both sides of the special education desk--as students and as teachers. The three participants for this study each received special education services for learning disabilities while in school and were currently teaching students with learning disabilities. Specifically the study focused on how participants' past experiences with receiving special education services influenced their current practice as special education teachers. Participants' views on service delivery models, the importance of teacher expectations, and the value of conceiving a learning disability as a tool rather than a deficit are discussed.

Profiles of college students demonstrating learning disabilities with and without giftedness.

The purpose of this study was to analyze the assessment profiles of two groups of adults with learning disabilities. The first group comprised 48 adults (34 men and 14 women) demonstrating giftedness and a learning disability profile (G/LD). The second group of 46 adults (31 men and 15 women) demonstrated a learning disabled profile without giftedness (NG/LD). Both groups of participants were either attending or planning to attend college and sought testing at a university-affiliated learning disabilities center. Participants' mean age was 20 years, and all were White and from middle to upper-middle class backgrounds. Findings indicate that, as a group, the adults demonstrating a G/LD profile tended to be identified later and have more discrepancy among cognitive assessment profile scores than the NG/LD group. Cognitive subtest scores showed significant differences between the groups, but also several areas of weakness evident in both groups regardless of the presence of giftedness. These findings emphasize the importance of identifying the presence of learning disabilities among gifted populations.