Prolactin-producing pituitary carcinoma, hypopituitarism, and graves' disease-Report of a challenging case and literature review

Introduction: The diagnosis of pituitary carcinoma is very rare, requires the evidence of metastatic disease, and has a poor overall survival. Malignant prolactinoma frequently requires dopamine agonist therapy, pituitary surgery, radiotherapy, and even chemotherapy. Case description: A 19-year-old female presented with galactorrhea, primary amenorrhea, and left hemianopsia. Complementary study detected hyperprolactinemia and a pituitary macroadenoma with cavernous sinus invasion and suprasellar growth. She was treated with cabergoline and bromocriptine without clinical or analytical improvement. Resection of the pituitary lesion was programmed and a non-contiguous lesion of the nasal mucosa was detected during the approach. This metastasis led to the diagnosis of prolactin-producing pituitary carcinoma. After partial resection, the patient was submitted to radiotherapy for residual disease with persistent symptoms. She developed growth hormone deficiency, central hypothyroidism, hypogonadism, and permanent diabetes insipidus. Six years later she was admitted for the suspicion of secondary adrenal insufficiency and thyrotoxicosis. Physical findings, laboratory data, thyroid ultrasound, and scintigraphy achieved the diagnosis of Graves' disease and hypocortisolism. She was treated with hydrocortisone and methimazole, but central hypothyroidism recurred after antithyroid drug withdrawal. Nine years after the diagnosis of a pituitary carcinoma, she maintains treatment with bromocriptine, has a locally stable disease, with no metastases. Conclusion: This report highlights an unusual presentation of a prolactin-producing pituitary carcinoma in a young female. The patient had multiple hormone deficiencies due to a pituitary lesion and treatments. The posterior development of hyperthyroidism and adrenal insufficiency brought an additional difficulty to the approach

Noninvasive anatomical and functional assessment of coronary artery disease.

INTRODUCTION AND OBJECTIVE: In suspected coronary artery disease (CAD), invasive coronary angiography (ICA) is traditionally the diagnostic tool of choice. However, patients often have no significant disease. Moreover, assessment of fractional flow reserve (FFR) has been shown to have prognostic implications. Recently, coronary computed tomography angiography (CTA) and cardiac magnetic resonance (CMR) myocardial perfusion imaging (CMR-Perf) have gained increasing attention through their accurate anatomical and functional assessment, respectively. We studied the added value of integrating these tests (CT+CMRint) in the diagnosis of CAD, with FFR as the reference standard. METHODS: We included 101 patients consecutively referred for outpatient assessment of CAD who underwent CTA and CMR-Perf prior to ICA with FFR assessment. Lesions were considered positive by CT+CMRint only if positive in the two tests alone. The mean follow-up was 2.9±0.6 years. RESULTS: All patients completed the study protocol without adverse effects. Forty-four patients had CAD by FFR. CTA had excellent sensitivity and negative predictive value (100%) but, as expected, its specificity and positive predictive value were lower (61% and 67%, respectively). Diagnostic accuracy by FFR was 78% for CTA, 88% for CMR-Perf and 92% for CT+CMRint. Regarding diagnostic accuracy, CT+CMRint showed statistically significant superiority (AUC=0.917, 95% CI 0.845-0.963) compared with CTA (AUC=0.807, 95% CI 0.716-0.879, p=0.0057) or CMR-Perf (AUC=0.882, 95% CI 0.802-0.938, p=0.0398) alone. Regarding prediction of revascularization, the integrated protocol maintained its superior performance. CONCLUSIONS: CT+CMRint showed superior diagnostic accuracy and could thus lead to a considerable reduction in invasive procedures for CAD diagnosis, with less risk and greater patient comfort

Predictors of mortality and disability in stroke-associated pneumonia

Whilst stroke-associated pneumonia (SAP) is common and associated with poor outcomes, less is known about the determinants of these adverse clinical outcomes in SAP. To identify the factors that influence mortality and morbidity in SAP. Data for patients with SAP (n = 854) were extracted from a regional Hospital Stroke Register in Norfolk, UK (2003-2015). SAP was defined as pneumonia occurring within 7 days of admission by the treating clinicians. Mutlivariable regression models were constructed to assess factors influencing survival and the level of disability at discharge using modified Rankin Scale [mRS]. Mean (SD) age was 83.0 (8.7) years and ischaemic stroke occurred in 727 (85.0%). Mortality was 19.0% at 30 days and 44.0% at 6 months. Stroke severity assessment using National Institutes of Health Stroke Scale was not recorded in the data set although Oxfordshire Community Stroke Project was Classification. In the multivariable analyses, 30-day mortality was independently associated with age (OR 1.04, 95% CI 1.01-1.07, p = 0.01), haemorrhagic stroke (2.27, 1.07-4.78, p = 0.03) and pre-stroke disability (mRS 4-5 v 0-1: 6.45, 3.12-13.35, p < 0.001). 6-month mortality was independently associated with age (< 0.001), pre-stroke disability (p < 0.001) and certain comorbidities, including the following: dementia (6.53, 4.73-9.03, p < 0.001), lung cancer (2.07, 1.14-3.77, p = 0.017) and previous transient ischemic attack (1.94, 1.12-3.36, p = 0.019). Disability defined by mRS at discharge was independently associated with age (1.10, 1.05-1.16, p < 0.001) and plasma C-reactive protein (1.02, 1.01-1.03, p = 0.012). We have identified non-modifiable determinants of poor prognosis in patients with SAP. Further studies are required to identify modifiable factors which may guide areas for intervention to improve the prognosis in SAP in these patients

Video games are exciting: a European study of videogame‐induced seizures and epilepsy.

Epileptic Disord. 2002 Jun;4(2):121-8. Video games are exciting: a European study of video game-induced seizures and epilepsy. Kasteleijn-Nolst Trenité DG, Martins da Silva A, Ricci S, Rubboli G, Tassinari CA, Lopes J, Bettencourt M, Oosting J, Segers JP. Department of Neurology, Medical Centre Alkmaar, PO Box 501, 1800 AM, The Netherlands. [email protected] Abstract BACKGROUND: Video game seizures have been reported in photosensitive and non-photosensitive patients with epilepsy. The game Super Mario World, has led to many cases of first seizures. We examined whether this game was indeed more provocative than other programs and whether playing the game added to this effect. METHODS: We prospectively investigated 352 patients in four European cities, using a standard protocol including testing of a variety of visual stimuli. We correlated historical data on provocative factors in daily life with electroencephalographic laboratory findings. RESULTS: The video game, Super Mario World proved more epileptogenic than standard TV programs and as provocative as programs with flashing lights and patterns. Most striking was the fact that video game-viewing and-playing on the 50 and 100 Hz TV was significantly more provocative than viewing the standard program (P < 0.001, P < 0.05 respectively). Playing the video game Mario World on a 50 Hz TV, appeared to be significantly more provocative than playing this game on the 100 Hz TV (P < 0.001). Of 163 patients with a history of TV-, VG- or CG-seizures, 85% of them showed epileptiform discharges in response to photic stimulation, 44% to patterns, 59% to 50 Hz TV and 29% to 100 Hz TV. CONCLUSIONS: Children and adolescents with a history of video game seizures are, in the vast majority, photosensitive and should be investigated with standardised photic stimulation. Games and programs with bright background or flashing images are specifically provocative. Playing a video game on a 100 Hz TV is less provocative [published with videosequences]. PMID: 12105074 [PubMed - indexed for MEDLINE

Complete Distal Rupture of the Rectus Femoris in an Elite Football Player: A Non-operative Treatment

info:eu-repo/semantics/publishedVersio

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance, suggesting the involvement of other factors, namely genetic modifiers, whose identification remains limited. Our aim was to find novel genetic modifiers, analyse their epistatic effects and identify disease-modifying pathways contributing to MJD variable expressivity. We performed whole-exome sequencing in a discovery sample of four age at onset-concordant and four discordant first-degree relative pairs of Azorean patients, to identify candidate variants which genotypes differed for each discordant pair but were shared in each concordant pair. Variants identified by this approach were then tested in an independent multi-origin cohort of 282 MJD patients. Whole-exome sequencing identified 233 candidate variants, from which 82 variants in 53 genes were prioritized for downstream analysis. Eighteen disease-modifying pathways were identified; two of the most enriched pathways were relevant for the nervous system, namely the neuregulin signaling and the agrin interactions at neuromuscular junction. Variants at PARD3, NFKB1, CHD5, ACTG1, CFAP57, DLGAP2, ITGB1, DIDO1 and CERS4 modulate age at onset in MJD, with those identified in CFAP57, ACTG1 and DIDO1 showing consistent effects across cohorts of different geographical origins. Network analyses of the nine novel MJD modifiers highlighted several important molecular interactions, including genes/proteins previously related with MJD pathogenesis, namely between ACTG1/APOE and VCP/ITGB1. We describe novel pathways, modifiers, and their interaction partners, providing a broad molecular portrait of age at onset modulation to be further exploited as new disease-modifying targets for MJD and related diseases

Effect of Weight Loss after Bariatric Surgery on Thyroid-Stimulating Hormone Levels in Patients with Morbid Obesity and Normal Thyroid Function

Background: Several studies have reported that morbid obesity is associated with increased thyroid-stimulating hormone (TSH) levels. However, it is not clear what is the impact of bariatric surgery on postoperative thyroid function. The aim of this study was to evaluate the effect of weight loss after bariatric surgery on TSH levels in euthyroid patients with morbid obesity. Methods: We performed a retrospective observational study of 949 euthyroid patients (86.1% female; age 42.0 ± 10.3 years, BMI 44.3 ± 5.7 kg/m2) with morbid obesity submitted to bariatric surgery (laparoscopic adjustable gastric band, Roux-en-Y gastric bypass, or sleeve gastrectomy). Patients were subdivided in two groups: normal TSH group (TSH <2.5 mU/L) and high-normal TSH group (TSH ≥2.5 mU/L). The impact of anthropometric parameters, comorbidities, TSH, free thyroxine (FT4), free triiodothyronine (FT3), type of surgery, and excessive body weight loss (EBWL) on TSH variation 12 months after surgery was evaluated. Results: The high-normal TSH group (24.3% of patients) included more women, presented a higher BMI, higher systolic blood pressure, and higher FT3 levels. There was a significant decrease of TSH 12 months after surgery that was more marked in the high-normal TSH group (normal TSH group: 1.57 ± 0.49 to 1.53 ± 0.69 mIU/L, p = 0.063; high-normal TSH group: 3.23 ± 0.59 to 2.38 ± 0.86 mIU/L, p < 0.001). In a multivariate analysis, after adjusting for relevant covariates, EBWL, baseline BMI, and baseline FT3 were significantly associated with TSH decrease 12 months after bariatric surgery. Conclusion: Bariatric surgery promotes a decrease of TSH that is significantly greater in patients with high-normal TSH and is independently associated with EBWL after surgery

Impact of HIV on inpatient mortality and complications in stroke in Thailand: A National Database Study

The co-existence of stroke and HIV has increased in recent years, but the impact of HIV on post-stroke outcomes is poorly understood. We examined the impact of HIV on inpatient mortality, length of acute hospital stay and complications (pneumonia, respiratory failure, sepsis and convulsions), in hospitalized strokes in Thailand. All hospitalized strokes between 1 October 2004 and 31 January 2013 were included. Data were obtained from a National Insurance Database. Characteristics and outcomes for non-HIV and HIV patients were compared and multivariate logistic and linear regression models were constructed to assess the above outcomes. Of 610 688 patients (mean age 63·4 years, 45·4% female), 0·14% (866) had HIV infection. HIV patients were younger, a higher proportion were male and had higher prevalence of anaemia (P < 0·001) compared to non-HIV patients. Traditional cardiovascular risk factors, hypertension and diabetes, were more common in the non-HIV group (P < 0·001). After adjusting for age, sex, stroke type and co-morbidities, HIV infection was significantly associated with higher odds of sepsis [odds ratio (OR) 1·75, 95% confidence interval (CI) 1·29–2·4], and inpatient mortality (OR 2·15, 95% CI 1·8–2·56) compared to patients without HIV infection. The latter did not attenuate after controlling for complications (OR 2·20, 95% CI 1·83–2·64). HIV infection is associated with increased odds of sepsis and inpatient mortality after acute stroke

Impact of anaemia on acute stroke outcomes depends on the type of anaemia: Evidence from a UK stroke register

Background: Previous research has demonstrated an association between anaemia and poor outcomes in acute stroke. This study aimed to assess the impact of anaemia on stroke by anaemia subtype. Methods: Data from a prospective UK Regional Stroke Register were used to assess the association between hypochromic microcytic and normochromic normocytic anaemia on inpatient-mortality, length of stay (LOS) and discharge modified Rankin scale (mRS). Analysis was stratified by stroke subtypes and multivariable logistic regression, adjusting for potential confounders, was used to quantify this association. Patients who were not anaemic were the reference category. Results: A total of 8167 stroke patients (admitted between 2003 and 2015) were included, mean age (SD) 77.39 ± 11.90 years. Of these, 3.4% (n = 281) had hypochromic microcytic anaemia and 15.5% (n = 1262) had normochromic normocytic anaemia on admission. Normochromic normocytic anaemia was associated with increased odds of in-patient mortality OR 1.48 (1.24–1.77), 90-day mortality OR 1.63 (1.38–1.92), longer LOS OR 1.21 (1.06–1.40), defined as > 7 days, and severe disability defined as discharge mRS ≥ 3 OR 1.31 (1.06–1.63), in patients with ischaemic stroke. Hypochromic microcytic anaemia was associated with 90-day mortality OR 1.90 (1.40–2.58) and a longer LOS OR 1.57 (1.20–2.05) in patients with ischaemic stroke. Conclusions: Hypochromic microcytic and normochromic normocytic anaemia are associated with differing outcomes in terms of inpatient mortality and post stroke disability. While it is unclear if anaemia per se or another underlying cause is responsible for adverse outcomes, subtype of anaemia appears to be relevant in stroke prognosis