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The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS. [ABSTRACT FROM AUTHOR]

To evaluate the rate, factors, and outcomes associated with heart failure (HF) after transjugular intrahepatic portosystemic shunt (TIPS). There was no difference in 30-day mortality in patients developing HF after TIPS (1/10, 10%) or not developing HF after TIPS (22/124, 18%; P = 0.53). [Extracted from the article]

Mucoepidermoid carcinomas, a kind of primary adenocarcinoma mostly occur in the major salivary glands, the minor salivary glands of oral cavity and in the lacrimal glands. These tumours rarely occur in the sino-nasal tract, with those originating in the nasopharynx being extremely rare. As per review of available literature on present date, nasopharyngeal mucoepidermoid carcinomas account for 0.6% of salivary gland tumours and 4.8% of mucoepidermoid carcinomas. These cases showed an age incidence ranging from 20 to 60 years with a female preponderance. In contrast to nasopharyngeal carcinomas, these tumours show low positivity rates for Ebstein- Barr virus serological test. Histochemical positivity for mucin may be demonstrated in the glandular and mucinous components of these tumours. Mucoepidermoid carcinoma of nasopharynx is treated with surgical excision combined with radiotherapy or chemo radiotherapy alone based on stage and resectivity. The cases are generally associated with poor survival making early diagnosis, proper histopathological diagnosis and prompt treatment very important. This case report highlights the rare occurrence of an intermediate grade nasopharyngeal muco-epidermoid carcinoma in a 48 year old female patient and is presented for its unusual occurrence in the nasopharynx which is a rare location for this lesion. [ABSTRACT FROM AUTHOR]

Angiosarcoma is a rare and deadly malignancy originating from the vascular endothelial cells that usually occurs in the head and neck, especially in the scalp. The presentation varies from a small plaque to multifocal nodules. The treatment depends on the extent of the disease. Most cases are treated with wide excision and reconstruction, radiotherapy and chemotherapy are advocated in the recurrent or extensive lesions with regional or distant metastasis. A case of a 86-year-old female patient with a scalp lesion and palpable neck node is presented. On excisional biopsy it was diagnosed as angiosarcoma of skin and soft tissue. Wide excision was done and patient was given radiotherapy. [ABSTRACT FROM AUTHOR]

Background: Levels of LDL (low-density lipoprotein) cholesterol in the population are declining, and increasing attention is being focused on residual lipid-related pathways of atherosclerotic cardiovascular disease risk beyond LDL cholesterol. Among individuals with low (<130 mg/dL) LDL cholesterol, we undertook detailed profiling of circulating atherogenic lipoproteins in relation to incident cardiovascular disease in 2 populations., Methods and Results: We performed proton nuclear magnetic resonance spectroscopy to quantify concentrations of LDL and VLDL (very low-density lipoprotein) particle subclasses in 11 984 JUPITER trial participants (NCT00239681). Adjusted Cox models examined cardiovascular disease risk associated with lipoprotein measures according to treatment allocation. Risk (adjusted hazard ratio [95%CI] per SD increment) among placebo-allocated participants was associated with total LDL particles (1.19 [1.02, 1.38]) and total VLDL particles (1.21 [1.04, 1.41]), as well as apolipoprotein B, non-high-density lipoprotein cholesterol, and triglycerides, but not LDL-c. Rosuvastatin reduced LDL measures but had variable effects on triglyceride and VLDL measures. On-statin levels of the smallest VLDL particle subclass were associated with a 68% per-SD (adjusted hazard ratio 1.68 [1.28, 2.22]) increase in residual risk-this risk was related to VLDL cholesterol and not triglyceride or larger VLDL particles. There was evidence that residual risk prediction during statin therapy could be significantly improved through the inclusion of key VLDL measures (Harrell C-index 0.780 versus 0.712; P <0.0001). In an independent, prospective cohort of 4721 individuals referred for cardiac catheterization (CATHGEN), similar patterns of lipoprotein-related risk were observed., Conclusions: Atherogenic lipoprotein particle concentrations were associated with cardiovascular disease risk when LDL cholesterol was low. VLDL lipoproteins, particularly the smallest remnant subclass, may represent unused targets for risk prediction and potential therapeutic intervention for reducing residual risk., Clinical Trial Registration: URL: http://www.clinicaltrials.gov. Unique identifier: NCT00239681., (© 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.)

Background: GlycA, a novel protein glycan biomarker of N-acetyl side chains of acute-phase proteins, was recently associated with incident cardiovascular disease (CVD) in healthy women. Whether GlycA predicts CVD events in the setting of statin therapy in men and women without CVD but with evidence of chronic inflammation is unknown., Methods and Results: In the Justfication for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial (NCT00239681), participants with low-density lipoprotein cholesterol <130 mg/dL and high-sensitivity C-reactive protein (hsCRP) ≥2 mg/L were randomized to rosuvastatin 20 mg/day or placebo. GlycA was quantified by nuclear magnetic resonance spectroscopy in 12 527 before randomization and 10 039 participants at 1 year. A total of 310 first primary CVD events occurred during maximum follow-up of 5.0 years (median, 1.9). GlycA changed minimally after 1 year on study treatment: 6.8% and 4.7% decrease in the rosuvastatin and placebo groups, respectively. Overall, baseline GlycA levels were associated with increased risk of CVD: multivariable-adjusted hazard ratio (HR) per SD increment, 1.20 (95% CI, 1.08-1.34; P=0.0006). After additionally adjusting for hsCRP, this was slightly attenuated (HR, 1.18; 95% CI, 1.04-1.35; P=0.01). On-treatment GlycA levels were also associated with CVD; corresponding multivariable-adjusted HRs per SD before and after additionally adjusting for hsCRP: 1.27 (95% CI, 1.13-1.42; P<0.0001) and 1.24 (95% CI, 1.07-1.44; P=0.004), respectively. Tests for heterogeneity by treatment arm were not significant (P for interaction, >0.20)., Conclusion: In the JUPITER trial, increased levels of GlycA were associated with an increased risk of CVD events independent of traditional risk factors and hsCRP., Clinical Trials Registration: URL: http://www.clinicaltrials.gov. Unique identifier: NCT00239681., (© 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.)

We report on a series of 514 consecutive diagnoses of skeletal dysplasia made over an 8-year period at a tertiary hospital in Kerala, India. The most common diagnostic groups were dysostosis multiplex group (n = 73) followed by FGFR3 (n = 49) and osteogenesis imperfecta and decreased bone density group (n = 41). Molecular confirmation was obtained in 109 cases. Clinical and radiographic evaluation was obtained in close diagnostic collaboration with expert groups abroad through Internet communication for difficult cases. This has allowed for targeted biochemical and molecular studies leading to the correct identification of rare or novel conditions, which has not only helped affected families by allowing for improved genetic counseling and prenatal diagnosis but also resulted in several scientific contributions. We conclude that (1) the spectrum of genetic bone disease in Kerala, India, is similar to that of other parts of the world, but recessive entities may be more frequent because of widespread consanguinity; (2) prenatal detection of skeletal dysplasias remains relatively rare because of limited access to expert prenatal ultrasound facilities; (3) because of the low accessibility to molecular tests, precise clinical-radiographic phenotyping remains the mainstay of diagnosis and counseling and of gatekeeping to efficient laboratory testing; (4) good phenotyping allows, a significant contribution to the recognition and characterization of novel entities. We suggest that the tight collaboration between a local reference center with dedicated personnel and expert diagnostic networks may be a proficient model to bring current diagnostics to developing countries., (© 2014 Wiley Periodicals, Inc.)

Background: Raising the cholesterol of high-density lipoprotein (HDL) particles is targeted as a cardiovascular disease prevention strategy. However, HDL particles are heterogeneous in composition and structure, which may relate to differences in antiatherogenic potential. We prospectively evaluated the association of HDL subclasses, defined by a recently proposed nomenclature, with incident coronary heart disease (CHD)., Methods and Results: Baseline HDL particle concentrations were measured by nuclear magnetic resonance spectroscopy and categorized into 5 subclasses (very large, large, medium, small, and very small) among 26 332 initially healthy women. During a median follow-up of 17 years, 969 cases of incident CHD (myocardial infarction, revascularization, and CHD death) were ascertained. In Cox models that adjusted for age, race/ethnicity, blood pressure, smoking, postmenopausal status, and hormone therapy, associations with incident CHD were inverse (P trend<0.0001) for concentrations of very large (hazard ratio for top versus bottom quartile, 0.49; 95% confidence interval, 0.41-0.60), large (0.54; 0.45-0.64), and medium (0.69; 0.58-0.83) HDL subclasses. Conversely, hazard ratios (95% confidence intervals) for small and very small HDL were 1.22 (1.01-1.46; P trend=0.08) and 1.67 (1.39-2.02; P trend<0.0001), respectively. However, after additionally adjusting for metabolic and lipoprotein variables, associations for the spectrum of large, medium, and small HDL subclasses were inverse (P trend<0.05 for large and small and 0.07 for medium), whereas subclasses at either end of the spectrum were not associated with CHD (P trend=0.97 for very large and 0.21 for very small HDL)., Conclusions: In this prospective study, associations with incident CHD differed by HDL particle subclass, which may be relevant for developing HDL-modulating therapies., Clinical Trial Registration: URL: http://www.clinicaltrials.gov. Unique identifier: NCT00000479.

Urine is one of the diagnostically important bio fluids, as it has different metabolites in it, where many of them are native fluorophores. Native fluorescence characteristics of human urine samples were studied using excitation-emission matrices (EEMs) over a range of excitation and emission wavelengths, and emission spectra at 405 nm excitation, to discriminate patients with cancer from the normal subjects. The fluorescence spectra of urine samples of cancer patients exhibit considerable spectral differences in both EEMs and emission spectra with respect to normal subjects. Different ratios were calculated using the fluorescence intensity values of the emission spectra and they were used as input variables for a multiple linear discriminant analysis across different groups. The discriminant analysis classifies 94.7% of the original grouped cases and 94.1% of the cross-validated grouped cases correctly. Based on the fluorescence emission characteristics of urine and statistical analysis, it may be concluded that the fluorophores nicotinamide adenine dinucleotide (NADH) and flavins may be considered as metabolomic markers of cancer., (© 2012 Wiley Periodicals, Inc. Photochemistry and Photobiology © 2012 The American Society of Photobiology.)

Background/aims: Pregnant women with acute viral hepatitis (VH) and those with pregnancy associated acute liver disease (PAALD) including acute fatty liver disease of pregnancy, hemolysis elevated liver enzyme and low platelet syndrome present with similar clinical features and liver tests abnormalities. Accurate differentiation between the two groups is critical to expedite early delivery in the latter and prevent progressive liver damage. There is scant data in the literature to differentiate between PAALD and VH., Methods: We studied the clinical variables, hematological, biochemical and viral serological tests of 87 consecutive pregnant patients with jaundice from 2000 to 2003., Results: There were 46 and 41 patients in PAALD and VH group, respectively. Two-thirds in VH group were due to hepatitis E. Univariate analysis identified hypertension, encephalopathy, oliguria, ascites, serum creatinine, and low platelets as significantly more common in the PAALD group. Multivariate analysis and recursive partitioning identified hypertension and ascites as predictors of PAALD with excellent predictive ability and c value of 0.92. Mortality was 41% in PAALD and 7.5% in VH. Increased bilirubin and oliguria were predictors of mortality in PAALD., Conclusions: Presence of ascites and hypertension differentiates PAALD from VH and should prompt early delivery. Mortality due to hepatitis E is low.

Objective: Depression is a frequent side effect of interferon therapy in patients with chronic hepatitis C (CHC). The aim of this study was to identify baseline and on-treatment predictors of depression in CHC patients receiving peginterferon and ribavirin., Methods: In total, 201 prior nonresponders with advanced fibrosis were treated with peginterferon alfa-2a and ribavirin for 24 wk in the Hepatitis C Antiviral Long-term Treatment against Cirrhosis trial. Of these, 74 continued on antiviral therapy through week 48. Mood states were assessed with the Beck Depression Inventory II and the Composite International Diagnostic Interview. Plasma cortisol and whole blood serotonin levels were measured in 101 subjects at weeks 0, 4, 24, 48, and 72., Results: The incidence of interferon-induced depression was 23% and 42% at weeks 24 and 48, respectively. Although 22% of patients had baseline depression, the absence of a week 20 virological response was the only independent predictor of interferon-induced depression at week 24 (P = 0.0009). Plasma cortisol levels did not change during treatment nor correlate with depression. In contrast, whole blood serotonin/platelet levels significantly decreased during treatment, but did not correlate with interferon-induced depression through week 24 (P = 0.35), nor through week 48 (P = 0.51)., Conclusion: Depression during peginterferon and ribavirin therapy was associated with a lower antiviral response. The significant reduction in whole blood serotonin levels over time suggest that further studies of the serotonergic pathway are warranted to identify the mediators of interferon-induced depression.

Unlabelled: Treatment of chronic hepatitis C with pegylated interferon (peginterferon) and ribavirin can cause or exacerbate depression but its effects on cognitive function are largely unknown. The aim of this study was to determine whether treatment with peginterferon and ribavirin adversely impacts cognitive function in patients with chronic hepatitis C. Prior nonresponders to interferon were retreated with peginterferon alfa-2a and ribavirin for 24 (n=177) or 48 weeks (n=57) in the Hepatitis C Antiviral Long-term Treatment Against Cirrhosis trial. Cognitive function was prospectively assessed using a battery of 10 standardized neuropsychological tests at weeks 0, 24, 48, and 72. Cognitive impairment was defined based upon a global deficit score. The Beck Depression Inventory and Brief Symptom Inventory were used to assess mood status. The 57 subjects who completed 48 weeks of antiviral therapy reported significant increases in difficulty concentrating, emotional distress, and symptoms of depression, all of which improved after cessation of therapy [P<0.0001, analysis of variance (ANOVA)]. Nonetheless, the frequency of cognitive impairment did not increase during the first 24 weeks of treatment in 177 patients (34% versus 32%, P=0.64) nor in the 57 patients completing 48 weeks of treatment (P=0.48, ANOVA)., Conclusion: Retreatment of prior non-responders with peginterferon and ribavirin was not associated with objective evidence of cognitive impairment as measured by a comprehensive battery of neuropsychological tests. The lack of cognitive impairment is reassuring and suggests that self-reported symptoms of cognitive dysfunction are more likely related to the systemic and psychiatric side effects of antiviral treatment rather than measurable changes in cognition.

Background & Aims: Hepatic steatosis often is observed in patients with chronic hepatitis C and has been reported to be associated with hepatic fibrosis and impaired treatment response in some studies. Our aim was to determine the prevalence of and risk factors for hepatic steatosis among Hepatitis C Antiviral Long-term Treatment against Cirrhosis patients, and to determine the relationship between steatosis, fibrosis, and sustained virologic response (SVR) to re-treatment with pegylated interferon and ribavirin., Methods: Baseline data from 1143 Hepatitis C Antiviral Long-term Treatment against Cirrhosis patients, with a mean body mass index of 30, 5% with genotype 3, 38% with cirrhosis, and 24% with diabetes were analyzed., Results: Steatosis scores of 0, 1, 2, 3, and 4 were observed in 19%, 42%, 30%, 8%, and 1% of patients, respectively. High body mass index, triglyceride and alanine aminotransferase levels, and genotype 3 were associated with higher grades of steatosis. Among nondiabetic patients, steatosis scores of 0-2 but not scores of 3-4 were associated significantly with cirrhosis. For diabetic patients, there was no association between steatosis and cirrhosis. Similarly, steatosis scores of 2-4 were associated with a lack of SVR among nondiabetic but not among diabetic patients., Conclusions: In this cohort with predominantly hepatitis C virus genotype 1 infection, steatosis was associated strongly with metabolic factors that contribute to nonalcoholic fatty liver disease. Steatosis correlated with increasing stages of fibrosis up to but not including cirrhosis. Steatosis had a negative impact on SVR among nondiabetic but not diabetic patients. The discordant findings between nondiabetic and diabetic patients indicate that these 2 groups should be considered separately when analyzing metabolic factors and liver disease outcomes.

Mild neuropsychological impairment has previously been reported in chronic hepatitis C (CHC) patients. The aim of this study was to assess the presence and severity of cognitive impairment among a cohort of CHC patients with advanced fibrosis using clinician ratings compared to classification based upon statistical methods. In addition, we set out to determine the relationship between cognitive scores and functional status. Two experienced neuropsychologists provided "clinician ratings" on a battery of 10 neuropsychological tests performed in 100 randomly selected patients participating in the HALT-C clinical trial. The overall kappa between the 2 graders on level of impairment was 0.59. Clinician ratings (the gold standard) were similarly sensitive to identifying cognitive impairment as was classification based on standard scores (44% vs. 40%). Global Deficit Scores (GDS), derived from pooling standard scores, also identified 44% of patients as having mild impairment and were highly correlated with clinician ratings (r = .81 p = < 0.0001). Neither clinician ratings nor deficit scores correlated with SF-36 subscale or summary scores but did correlate with depression scores (p < .0007). In summary, clinician ratings and deficit scores identified a similar prevalence of cognitive impairment amongst CHC patients with advanced fibrosis. There was a significant correlation between cognitive impairment and self-reported depression.

Background/aims: Prior studies have demonstrated neuropsychological abnormalities in chronic hepatitis C (CHC) patients even with mild fibrosis. The aim of this study was to determine the frequency, type, and severity of cognitive impairment in a large group of CHC patients with advanced fibrosis., Methods: Ten validated neuropsychological tests were administered to 201 CHC patients. Standard scores for individual tests were calculated using normative population data that controlled for age, gender, and/or education. Lifetime psychiatric history, alcohol consumption, and mood status were also determined., Results: 33% of patients met criteria for cognitive impairment (i.e. standard score <40 on at least 4 tests). Mild impairment in verbal recall and working memory were noted with other domains remaining intact. Liver disease severity and lifetime psychiatric/substance abuse history did not correlate with group mean cognitive test results or the presence of cognitive impairment. In contrast, IQ and depression scores were significant and independent predictors of cognitive impairment (ROC = 0.84)., Conclusions: 33% of patients entering the HALT-C trial have evidence of a mild, non-focal subcortical processing deficit which was highly correlated with IQ, education, and occupation. Future studies of cognitive function in CHC patients should control for general cognitive ability.

Factor XIII deficiency is a rare cause of early abortion. The obstetrical outcome of four pregnancies in two women with factor XIII deficiency is reported. Both women were treated with substitution therapy using locally-prepared cryoprecipitate. The outcome in these two women demonstrated the need for substitution therapy in early pregnancy leading to an increased chance of obstetrical success.

Hyperthyroidism can occur secondary to gestational trophoblastic disease. The clinical and biochemical data of four women who had hyperthyroidism secondary to gestational trophoblastic disease was analyzed. The parity ranged from primi to gravida four and the period of amenorrhoea from six weeks to sixteen weeks. Three women had vomiting, two had bleeding per vaginum and two had tachycardia and minimal thyromegaly. The betahCG was more than 5,00,000 mlu/ml in all the cases. Three women required treatment for the hypermetabolic status and one woman had biochemical hyperthyroidism. Two of them had molar pregnancy, one had partial mole and one had persistent trophoblastic disease.

The purpose of this study was to assess HIV-infected patients' discontinuation of their primary care. One hundred ninety-eight consecutive outpatients were interviewed on initial HIV primary care presentation, assessed after six months about their discontinuation from primary care, and had characteristics associated with discontinuation determined. Primary care was not continued in 20 percent (40/198) of the cases. Cohort characteristics included 25 percent women; 44 percent black, 28 percent white, 25 percent Hispanic; 69 percent with highest yearly income < or = $16,000; 47 percent injection drug users; and median CD4 count 285/microL. Characteristics significantly associated (p < or = 0.05) with discontinuation were higher CD4 count, less education, no history of victimization, previous jail time, and site of medical care. One-fifth of HIV-infected patients did not remain engaged in primary care after establishing this essential link to treatment.

The activity of beta-glucuronidase was studied in the gastric aspirate from normal individuals, cases of duodenal ulcer with pyloric stenosis and carcinoma of the stomach. The optimum pH for the activity of this enzyme in the gastric aspirate is 4.0 to 5.5. Cimetidine, a H2-receptor antagonist, was administered orally to obtain the optimum pH for the enzyme activity, when the pH of the gastric aspirate was less than 4.0. It is observed that the enzyme activity in cases of carcinoma of the stomach is markedly elevated (p less than 0.01), when compared with other cases in this study. It is suggested that the elevated enzyme activity in the gastric aspirate could be used as a biochemical marker in the diagnosis of carcinoma of the stomach.