Hepatoportal sclerosis clinical different evolutionary stages: presentation of 3 cases and literature review.

Hepatoportal sclerosis (HPS) is characterized by presinusoidal intrahepatic portal hypertension associated with splenomegaly and anemia in patients with non-cirrhotic liver. Liver biopsy is essential, especially to rule out other processes. Being a disease of unknown etiology, the majority of cases have been described in eastern countries. However, it may be an underdiagnosed disease in the West. Symptoms are related to portal hypertension and the clinical spectrum is wide, ranging from anemia with normal liver function tests to bleeding due to esophageal varices. Treatment is directed to the complications and the prognosis is better than in patients with cirrhosis.We report three cases of HPS presenting at different clinical stages and the findings of liver biopsies, the clinical outcomes and a review of scientific literature.

Alcoholic Liver Disease Among Patients with Wernicke Encephalopathy: A Multicenter Observational Study.

BACKGROUND: data regarding the association between Wernicke encephalopathy (WE) and alcoholic liver disease (ALD) are scarce in spite of alcohol consumption being the main risk factor for WE. AIMS: to describe the frequency of ALD in a cohort of patients diagnosed with WE and alcohol use disorders (AUDs) and to compare the characteristics of WE patients with and without ALD. METHODS: we conducted an observational study in 21 centers through a nationwide registry of the Spanish Society of Internal Medicine. WE Caine criteria were applied and demographic, clinical, and outcome variables were analyzed. RESULTS: 434 patients were included in the study, of which 372 were men (85.7%), and the mean age was 55 ± 11.8 years. ALD was present in 162 (37.3%) patients and we found a higher percentage of cases with tremor, flapping and hallucinations in the ALD group. A total of 22 patients (5.0%) died during admission (7.4% with ALD vs 3.7% without ALD; P = 0.087). Among the ALD patients, a relationship between mortality and the presence of anemia (Odds ratio [OR]=4.6 Confidence interval [CI]95% 1.1-18.8; P = 0.034), low level of consciousness (OR=4.9 CI95% 1.1-21.2; P = 0.031) and previous diagnosis of cancer (OR=10.3 CI95% 1.8-59.5; P = 0.009) was detected. Complete recovery was achieved by 27 patients with ALD (17.8%) and 71 (27.8%) without ALD (P = 0.030). CONCLUSION: the association of WE and ALD in patients with AUDs is frequent and potentially linked to differences in clinical presentation and to poorer prognosis, as compared to alcoholic patients with WE without ALD.

Embryonal tumor with abundant neuropil and true rosettes (ETANTR): a new distinctive variety of pediatric PNET: a case-based update.

BACKGROUND: Embryonal central nervous system (CNS) tumors are currently classified into three types: medulloblastoma, atypical rhabdoid/teratoid tumors, and primitive neuroectodermal tumor (PNET). A distinctive subtype of PNET called "embryonal tumor with abundant neuropil and true rosettes" (ETANTR) was reported in 2000. DISCUSSION: ETANTR is a recently described variety of PNET that combines microscopic features of neuroblastoma and ependymoblastoma, demonstrating areas of fine fibrillary neuropil intermingled with cellular zones and ependymoblastic rosettes. It has been suggested that this neoplasm should be considered as a separate entity. ETANTR is an eminently pediatric tumor that has been reported exclusively in children younger than 4 years. ILLUSTRATIVE CASES: A 9-month-old girl underwent subtotal resection of a brainstem neoplasm. A 23-month-old girl was submitted to surgery for a frontoparietal tumor. In both instances, the histopathological diagnosis confirmed ETANTR. Both children were treated with chemotherapy and one with radiotherapy. Death in both patients occurred after a mean period of 10 months. CONCLUSIONS: By reporting these two new instances of ETANTR, we want to contribute to the knowledge of this highly malignant CNS embryonal neoplasm that occurs only in young children, given its present lethal prognosis, the scarcity of reported cases, and the lack of treatment guidelines.

[Mucosal Schwann cells hamartoma: Review of a recently described entity]. / Hamartoma de células de Schwann mucoso: revisión de una entidad descrita recientemente.

Neural lesions of the colon may be masses (schwannomas and neurofibromas) or, more frequently, small polyps including perineuromas, ganglioneuromas and granular cell tumors. Some neural lesions are associated with congenital syndromes (neurofibromatosis-1, multiple endocrine neoplasia-2B). Recently, a new entity has been described named mucosal Schwann cell hamartoma, consisting of an intramucosal neural proliferation; to date, less than forty cases have been reported. We report a further case in a patient from whom a polyp was extirpated during colonoscopy screening. Histologically, the polyp showed a lamina propia that contained spindle-shaped cells of neural aspect which could only be identified after a histochemical and immunohistochemical study.

Differences Between Alcoholic and Nonalcoholic Patients With Wernicke Encephalopathy: A Multicenter Observational Study.

OBJECTIVE: To analyze the differences in characteristics and prognosis between alcoholic and nonalcoholic patients with Wernicke encephalopathy (WE). PATIENTS AND METHODS: A retrospective observational cohort of 468 patients diagnosed with WE with at least 2 Caine criteria was selected from all patients discharged with a diagnosis of WE from 21 medical centers in Spain from January 1, 2000, through December 31, 2012. Demographic, clinical, and outcome variables were described. RESULTS: Among the 468 patients, the most common risk factor was alcoholism (n=434 [92.7%]). More than one-third of patients (n=181 [38.7%]) had the classic WE triad of symptoms (ocular signs, cerebellar dysfunction, and confusion). Among 252 patients for whom magnetic resonance imaging data were available, 135 (53.6%) had WE-related lesions and 42 (16.7%) had cerebellar lesions. Of the 468 patients, 25 (5.3%) died during hospitalization. Alcoholic patients presented more frequently than nonalcoholic patients with cerebellar signs (P=.01) but less frequently with ocular signs (P=.02). Alcoholic patients had a significantly higher frequency of hyponatremia (P=.04) and decreased platelet count (P=.005) compared with nonalcoholics. Alcoholic patients were diagnosed earlier than nonalcoholics (median time to diagnosis, 1 vs 4 days; P=.001) and had shorter hospitalizations (13 vs 23 days; P=.002). CONCLUSION: Compared with nonalcoholic patients, alcoholic patients with WE are more likely to present with cerebellar signs and less likely to have ocular signs. Diagnosis may be delayed in nonalcoholic patients. Mortality in the present series was lower than described previously.

Prophylactic thyroidectomy in MEN 2A syndrome: experience in a single center.

BACKGROUND: Genetic study of the RET proto-oncogene has modified the management, treatment, and prognosis of medullary thyroid carcinoma (MTC), multiple endocrine neoplasia 2A (MEN 2A), for patients with less advanced tumor stages. Classically, the diagnosis was based on an increase in basal and poststimulus peak calcitonin (bCT and pCT). Prophylactic thyroidectomy, based on results of genetic testing, may reduce recurrences in MTC. STUDY DESIGN: Of 82 MTC (MEN 2A) patients genetically diagnosed and surgically treated at our center, 22 received a prophylactic thyroidectomy (RET +, bCT and pCT with normal values and asymptomatic). We analyzed age, gender, phenotype, RET mutation, cervical ultrasound, laboratory tests (bCT, pCT, and CEA), surgery, histologic data, TNM, and followup. RESULTS: The 22 patients belonged to 8 families with MTC (MEN 2A). Mean age was 15.2 years (range 5 to 36 years). The RET mutation in 21 patients was Cys-->Tyr and in the remaining patient both in codon 634 in exon 11. The median values of bCT and pCT were 38 pg/mL (range < 15 to 75 pg/mL) and 148.5 pg/mL (range < 15 to 250 pg/mL), respectively. Total thyroidectomy was performed in 8 patients (age < or = 10 years) and associated central neck dissection in 14 patients (age> 10 years). Histologic study showed 7 C-cell hyperplasias and 15 MTCs (8 bilateral); the median size was 0.2 cm (range < 0.1 to 0.7cm); 1 patient had metastatic adenopathies. According to TNM, 7 were stage 0, 14 were stage I, and 1 was stage III. Postsurgery bCT and pCT values were normal in all patients, with a curative rate of 100%. MTC patients compared with C-cell hyperplasia patients were older on average, had higher mean bCT, mean pCT, and mean CEA. CONCLUSIONS: Prophylactic thyroidectomy based on genetic testing allows identification and treatment of patients at an early stage of the disease and decreases recurrence rates. pCT values above the upper limit of normal may be markers for the presence of MTC and should be considered in selecting operative procedures for these patients.

Presurgical assessment of the tumor burden of familial medullary thyroid carcinoma by calcitonin testing.

BACKGROUND: Early diagnosis of familial medullary thyroid carcinoma (MTC) is currently done by genetic analysis. These techniques have replaced calcitonin stimulation testing, which was previously used for this purpose. Some studies suggest a relationship between MTC spread and calcitonin levels. The aim of this study was to assess whether the tumor burden of MTC associated with multiple endocrine neoplasia type 2A (MEN 2A) syndrome can be estimated from the plasma calcitonin values before surgery. STUDY DESIGN: We retrospectively studied the relationship of basal and peak calcitonin values before thyroidectomy with histopathologic findings in 53 patients with MEN 2A syndrome from 14 families. The MTC was classified according to TNM staging. Analysis of variance was used for statistical analysis complemented with equality contrasts for pairs of means by the least significant difference method with a Student's t-test and with the Bonferroni's adjustment. RESULTS: A positive association was found between tumor stage and basal and peak calcitonin levels. There were significant differences between the following: mean basal concentrations of patients with C cell hyperplasia (CCH) (34.3 pg/mL) and TNM stage II (1,097.4 pg/mL), p < 0.01; CCH and TNM stage III (2,940.8 pg/mL), p < 0.001; TNM stage I (165.3 pg/mL) and stage II (1,097.4 pg/mL), p < 0.01, and between TNM stages I and III, p < 0.001. Poststimulation mean concentrations were different between CCH (48.7 pg/mL) and TNM I (514.2 pg/mL), p < 0.001. CONCLUSIONS: Preoperative calcitonin testing may be useful for assessing tumor spread and should be considered when deciding the extent of surgery for MEN 2A MTC.

Ileal Vanek's tumor mimicking cecal carcinoma.

Inflammatory fibroid polyps or Vanek's tumors are rare benign pseudotumoral lesions with morphological characteristics similar to those of submucosal mesenchymal tumors. They have been described in the gastrointestinal tract, most frequently in the gastric antrum. We present a case of ileal Vanek's tumor associated with a raised carcinoembryonic antigen level and with radiological and endoscopic features mimicking cecal carcinoma.

Positive progesterone receptors and cell proliferation index: an independent association with breast cancer in males.

BACKGROUND AND AIM: Breast cancer in males is an uncommon tumor whose management is extrapolated from that used in female breast cancer. This study compared the histopathological and immunohistochemical features of symptomatic breast cancers in males and females. PATIENTS AND METHODS: A comparison was made between variables of breast cancers from 58 males and 155 females. A descriptive study, a bivariate analysis, and a multivariate analysis using logistic regression were performed. RESULTS: No differences were found in staging. Significant differences were seen in age (p<0.0005), proportion of papillary carcinoma (p=0.038) and proportion of tumors with an associated intraductal component (p=0.002). There was a greater proportion of males expressing estrogen (p=0.038) and progesterone (p<0.0005) receptors in their tumors, with a significantly higher proliferation index (p<0.0005). CONCLUSIONS: Breast cancer in males should be considered a condition biologically different from female breast cancer as a result of factors related to the different hormonal influences, reflected mainly in immunohistochemical differences.

Prevalence and routine assessment of unhealthy alcohol use in hospitalized patients.

OBJECTIVES: To determine the prevalence of alcohol misuse among medical inpatients and the methods used by medical staff to evaluate alcohol consumption. METHODS: Multicenter, prospective, observational, cross-sectional study performed at 21 hospitals in Spain. All adult patients hospitalized in internal medicine wards on 12 March 2008 were eligible for study. Alcohol consumption was evaluated with the Alcohol Use Disorders Identification Test (AUDIT-C and AUDIT) and the Systematic Inventory of Alcohol Consumption questionnaire. Drinking patterns were determined according to clinical evaluation using ICD-10 criteria. Medical records were reviewed to gather information on the recording of alcohol use. RESULTS: We assessed 1039 inpatients, of whom 123 (12%) had unhealthy alcohol drinking patterns. Alcohol misuse was more frequent among males (odds ratio 5.20), younger patients (odds ratio, 14.17), median age patients (odds ratio, 2.99), and South Region (odds ratio, 1.77). Alcohol use during hospitalization was recorded in 603 inpatients (59%); quantitative records were performed in 28% of hazardous and harmful drinkers and in 41% of dependent patients. Lack of alcohol use recording was more frequent among females (odds ratio 1.73), median and older age groups (odds ratios 1.44 and 1.73, respectively), Northwest Regions (odds ratios 3.46). Patients from the East Region (odds ratio 0.47) had more frequently assessed the question in their medical records. CONCLUSIONS: Prevalence of alcohol misuse was higher in hospitalized patients than in the general population. Adequate quantitative recording was infrequent. We stress the need to implement measures to increase and improve the detection and recording of alcohol use.

Rhabdoid meningioma: a new subtype of malignant meningioma also apt to occur in children.

CASE REPORT: The case of a 14-year-old girl who presented with a 2-week history of raised intracranial pressure is reported. A left frontal extra-axial tumor was totally removed, whose histopathologic diagnosis was rhabdoid meningioma (RM). DISCUSSION: Rhabdoid meningiomas constitute a special malignant phenotype of meningioma that has been recently included in the WHO classification of tumors of the nervous system. Usually, RMs affect middle-aged and elderly individuals. We report the fourth case of a RM occurring in a child to illustrate that the diagnosis of this tumor subtype, given its prognostic implications, must also be considered in pediatric patients.

Utility of fine-needle aspiration for diagnosis of carcinoma associated with multinodular goitre.

BACKGROUND: Fine-needle aspiration (FNA) is a useful method for evaluating a solitary thyroid nodule; however, this is not an agreed method for a multinodular goitre (MNG). The aim of this study was to assess the utility of preoperative FNA for detecting malignancy in MNG. PATIENTS AND METHOD: We analysed operated MNGs in which FNA had been performed. Puncture was carried out on the dominant nodule and any other nodules with features suggesting malignancy. The diagnosis was classed as colloid, follicular or Hurthle proliferation, suggestive of malignancy, haematic and inadequate. The thyroid FNA results, grouped into suggestive of malignancy (positive result) and other diagnoses (negative result), were compared to those of the final histological study in order to calculate the value of the test in diagnosing malignancy. RESULTS: FNA was performed in 432 MNGs, of which 42 (9.7%) were associated with carcinoma. Overall, the results of the test were poor, revealing a sensitivity of 17%, specificity of 96% and diagnostic accuracy of 88%, with a positive predictive value of 32% and negative predictive value of 88%. When the values were recalculated with the exclusion of microcarcinomas--considering their minor clinical importance--there was a slight improvement in the results: the sensitivity increased to 26%, diagnostic accuracy to 93% and negative predictive value to 96%. However, the specificity remained at 96%, and the positive predictive value fell from 32% to 25%. The results of the test improved in multifocal carcinomas. CONCLUSIONS: Thyroid fine needle aspiration is not useful for differentiating MNG with malignant degeneration from benign MNG, as more than 80% of carcinomas go unnoticed; it provides a sensitivity of 17% for detecting carcinomas, rising to 26% if microcarcinomas are excluded. We therefore suggest that clinical criteria should prevail over FNA.

Effects of alcohol withdrawal on 24 hour ambulatory blood pressure among alcohol-dependent patients.

BACKGROUND: Although epidemiologic studies have reported an association between alcohol intake and high blood pressure (BP), the results of intervention studies have shown inconsistent results. We embarked on a study to determine whether different subgroups of alcohol-dependent patients may be identified in relation to the effect of alcohol on BP. METHODS: Fifty alcohol-dependent men (mean age, 41.4 years) received 0.4 g of ethanol per kilogram of body weight every 4 hr in 200 ml of orange juice during 24 hr and the same amount of orange juice without ethanol during another 24 hr. Twenty-four hour ambulatory BP monitoring was performed during ethanol and orange juice intakes, as was hormonal and biochemical analysis. RESULTS: Thirty-five (75%) alcohol-dependent men were normotensive and 15 (30%) hypertensive. Eighteen (51%) normotensive and 12 (80%) hypertensive subjects showed a significant decrease in 24 hr mean BP after ethanol withdrawal (mean decrease of 8.4 mm Hg [95% confidence interval, -11.2 to -5.7] and 12.5 mm Hg [confidence interval, -16.2 to -8.8], respectively) and were considered as sensitive to alcohol. The remaining alcohol-dependent subjects were considered as resistant to alcohol. Normotensive subjects sensitive to ethanol showed a significantly greater left ventricular mass and a significantly lower ejection fraction than those normotensive patients whose BP did not change after ethanol withdrawal (both p < 0.01). CONCLUSIONS: More than three fourths of the hypertensive and more than half of the normotensive alcohol-dependent patients showed sensitivity to the pressor effects of ethanol. Impairment also was observed in heart function in normotensive patients sensitive to the pressor effects of ethanol.