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1.  Healthcare cost of type 1 diabetes mellitus in new-onset children in a hospital compared to an outpatient setting 
BMC Pediatrics  2013;13:55.
Type 1 diabetes is among the most prevalent chronic childhood diseases in the US. Initial type 1 diabetes management education and care can take place in different clinical settings. This study assessed metabolic outcomes (i.e. hemoglobin A1C), healthcare utilization and costs among new-onset type 1 diabetic children who received initial diabetes education and care in a hospital compared to those children in an outpatient pediatric endocrinology clinic.
A retrospective cross-sectional study was conducted from the payer’s perspective. New-onset type 1 diabetic children, aged 1–18, presented at Baystate Children’s Hospital (Massachusetts) from 2008–2009 were included in the study if lab test confirmed diagnosis and there was one year of follow-up. Inpatients spent at least one night in the hospital during a 10-day diagnosis period and received all or part of diabetes education there. Outpatients were diagnosed and received all diabetes education in a pediatric endocrinology clinic. Metabolic outcomes were measured at diagnosis and at one year post-diagnosis. Healthcare charges and electronic medical records data were reviewed from 2008–2010. Healthcare costs components included diagnostic test, pediatric, endocrinology and hospitalists care, critical and emergency care, type 1 diabetes related supplies, prescription drugs, and IV products.
Study sample included 84 patients (33 inpatient and 51 outpatients). No statistically significant differences in patient demographic characteristics were found between groups. There were no statistically significant differences in metabolic outcomes between groups. Total cost at one year post-diagnosis per new-onset type 1 diabetic child was $12,332 and $5,053 in the inpatient and outpatient groups, respectively. The average healthcare cost for pediatric endocrinology care was $4,080 and $3,904 per child in the inpatient and outpatient groups, respectively.
Provision of initial type 1 diabetes education and care to new-onset non-critically ill children in a hospital setting increases healthcare costs without improving patient’s glycemic control in the first year post-diagnosis.
PMCID: PMC3637533  PMID: 23587308
Diabetes; Healthcare costs; Healthcare utilization; Healthcare delivery; Pediatric population; Economic evaluation
2.  Trends in diagnostic and therapeutic criteria in Graves' disease in the last 10 years 
Postgraduate Medical Journal  2000;76(896):340-344.
A questionnaire describing a typical clinical case of Graves' disease and 10 variations on it was mailed to 70 Spanish units of endocrinology with the aim of assessing the new diagnostic and therapeutic trends for hyperthyroidism caused by Graves' disease in Spain and to compare the results obtained from previous studies carried out in Europe and Spain 10 years previously.
  Responses indicated that thyrotrophin (98%) and free thyroxine (88%) were the most used tests in the in vitro diagnosis of Graves' disease with a significant decrease in the use of total thyroxine, total triiodothyronine, and thyroglobulin in comparison with the surveys conducted 10 years previously in Europe and Spain. The presence of antibodies against the thyrotrophin receptor was the most frequently used immune marker in the diagnosis (78%) and the new use of antithyroperoxidase antibodies (36%) in diagnosis is noteworthy. Antithyroid drugs remain the treatment of choice (98%). Surgery was used mainly for large size goitres (33%) and radioiodine for recurrences after medical (61%) or surgical (80%) treatment.
  In conclusion, the responses obtained from this questionnaire provide insight into current specialist diagnostic and therapeutic practices with respect to Graves' disease and which could be of value to non-specialist units of endocrinology.

Keywords: Graves' disease; antithyroid drugs; radioiodine; surgery
PMCID: PMC1741609  PMID: 10824047
3.  Hormonal activity in clinically silent adrenal incidentalomas 
The rapid development of modern imaging techniques, has led to an increase in accidentally discovered adrenal masses without clinically apparent hormonal abnormalities. Such tumours have been termed “incidentalomas”. The diagnostic work-up in patients with adrenal incidentalomas is aimed at the determination of hormonal activity of the tumour and identification of patients with potentially malignant tumours. The aim of our study was a retrospective analysis of selected clinical characteristics and hormonal studies in accidentally discovered adrenal tumours.
Material and methods
Fourty hundred sixty-three patients with serendipitously discovered adrenal masses, diagnosed and treated in the Department of Endocrinology and Internal Diseases, Medical University of Gdansk as well as in the affiliated Endocrinology Clinic between 1993 and October of 2009 were included in the analysis. Out of all patients, 245 were referred for adrenalectomy.
We found that clinically “silent” tumours often demonstrate subclinical hormonal activity. In our report, increased 24-h urinary excretion of cortisol correlated positively with tumour size (p < 0.001). Moreover, a statistical relationship was demonstrated between tumour size and serum cortisol concentration assessed in the 1 mg dexamethasone suppression test (p < 0.001). Increased values of dehydroepiandrosterone/dehydroepiandrosterone sulphate were more often found in malignant than in benign tumours (p < 0.01). Urinary concentrations of 17-ketosteroids correlate positively with diagnosis of adrenocortical cancer (p = 0.02).
We found that clinically “silent” tumours often demonstrate subclinical hormonal activity (subclinical Cushing syndrome, subclinical pheochromocytoma, low-symptomatic adrenocortical cancer).
PMCID: PMC3309444  PMID: 22457682
adrenal incidentaloma; subclinical Cushing syndrome; subclinical Conn syndrome; subclinical pheochromocytoma; low-symptomatic adrenocortical cancer
4.  Brain death in ICU patients: Clinical significance of endocrine changes 
Numerous studies have been carried out among patients admitted in intensive care unit (ICU) having primary endocrine pathology, endocrine manifestations of systemic diseases or post-endocrine tissue surgery. However, minimal literary evidence is available highlighting the endocrine changes occurring during brain death in critically ill patients. A precise and timely diagnosis of brain death is required to convey the relatives about the prognosis and also to possibly plan for organ retrieval for transplantation purposes. The diagnosis of this condition as of today remains largely a clinical one. Brain death is associated with a multitude of endocrinological alterations which are yet to be completely unraveled and understood. Evaluating these endocrinological modifications lends us an added vista to add to the existing clinical parameters which might help us to confirm the diagnosis of brain death with a higher degree of precision. Moreover, since the efficacy of hormone replacement therapy to benefit in organ retrieval remains yet unproven, newer diagnostic modalities and research studies are definitely called for to strategize the optimal dosage and duration of such therapies.
PMCID: PMC3987277  PMID: 24741523
Brain death; blood glucose; catecholamines; thyroid hormones
5.  Physiologic assessment of fetal compromise: biomarkers of toxic exposure. 
Understanding the physiologic and endocrinologic basis of fetal development is a major goal of perinatal biology. During the past decade a number of technological developments have allowed more precise evaluation of the fetus in utero and diagnosis of abnormalities. Despite these methodological achievements, however, there are no specific biological markers currently available to indicate that exposure to a given xenobiotic is associated with a cellular, subcellular, or pharmacodynamic event. This paper evaluates the following issues: What are some of the unique physiologic and endocrinologic features of the fetal milieu intérieur? What problems are peculiar to fetal assessment? Of what value are techniques such as ultrasonography, amniocentesis, chorionic villus sampling, fetoscopy, and fetal blood and tissue sampling for obtaining appropriate biomarkers? What are some examples of validated biomarkers and their applicability? What promising biomarkers are on the horizon? What are some of the promising techniques such as the evaluation of fetal body movements, breathing activity, electronic heart rate monitoring, and nuclear magnetic resonance? How may molecular probes be of value as biological markers of fetal compromise? What are some of the major research gaps and needs, and how should research priorities be set? Some of these topics are addressed. Moreover, the more general role(s) that various diagnostic methods and biological markers can have in an understanding of the regulation of fetal growth and differentiation and the role of xenobiotics in affecting the normal course of events are discussed.
PMCID: PMC1474518  PMID: 3319557
6.  Thyroid B-flow twinkling sign: a new feature of papillary cancer 
European Journal of Endocrinology  2008;159(4):447-451.
Microcalcifications (aggregated with psammoma bodies), detected by ultrasound (US), are the most specific feature of papillary thyroid cancer (PTC). Using B-flow imaging (BFI), we identified a new sign (the twinkling sign; BFI-TS) in ‘suspect’ PTC nodules, which appeared to be generated by microcalcifications.
To evaluate whether the BFI-TS was predictive of malignancy, we correlated the BFI-TS with the results of fine needle aspiration cytology and histology.
Cross-sectional cohort study from September 2006 to April 2008.
Department of Radiology and Endocrinology, University of Naples Federico II, and Department of Endocrinology, Second University of Naples.
A total of 306 consecutive patients with 539 thyroid nodules >8 mm in diameter.
Main outcome measure
US and BFI examinations were performed with the Logiq 9 system (General Electric Company, Milan, Italy); all patients underwent cytological examination.
Cytology revealed 455 (84.4%) benign nodules and 84 (15.6%) malignant nodules; the latter were confirmed by postsurgical histological examination (76 cases of PTC, 7 follicular carcinoma, and 1 Hürthle cell carcinoma). All suspect nodules, namely, nodules with potential predictors of thyroid malignancy (e.g., microcalcifications and intra-nodal vascularity), were analyzed by cytology or histology (or both). Of 84, 68 (80.9%) of malignant nodules had ≥4 or more BFI-TSs in at least one scan versus only 12 of 455 (2.6%) of benign lesions.
Our results indicate that the BFI-TS could be a reliable diagnostic technique in the management of suspect thyroid nodules.
PMCID: PMC2754342  PMID: 18644823
7.  Differences in Statin Usage and Target-Goal Achievement between Departments at the Same Hospital 
PLoS ONE  2012;7(12):e50466.
To compare use of statins and target-goal achievement in patients with type 2 diabetes mellitus (T2DM), with or without stable coronary artery disease (CAD), between cardiology and endocrinology departments at a tertiary hospital.
A total of 966 patients with T2DM were enrolled, including 553 with stable CAD, from the departments of endocrinology and cardiology. Baseline characteristics, prescription of statins, and target-goal achievement of low-density lipoprotein cholesterol (LDL-C) during a 6-month follow-up period were analyzed.
There was lower ratio of statin use in patients with T2DM, with or without CAD, in the department of endocrinology than in the department of cardiology (all P<0.05). At the 6-month follow-up, compared to patients with T2DM in the endocrinology department, target-goal achievement among patients with T2DM in the department of cardiology was higher (52.90% vs. 41.46%, P<0.01), indicating a significant improvement among patients in the department of cardiology but not for those in the department of endocrinology when compared to baseline. According to the new Chinese guidelines, the goal attainment rate was higher among patients with T2DM combined with CAD in the department of cardiology than in the department of endocrinology (27.62% vs. 19.05%, P<0.05). However, with regard to ATP III 2004, the goal attainment rate was similar for patients with T2DM combined with CAD in both departments during the 6-month follow-up (9.21% vs. 8.84%, P>0.05), with no apparent improvement compared to baseline.
There was differential and sub-optimal use of statins as well as low target-goal achievement among patients with T2DM, with or without CAD, in the departments of cardiology and endocrinology at the same tertiary hospital, with a lower rate of statin prescription and target-goal achievement of LDL-C in the department of endocrinology.
PMCID: PMC3519451  PMID: 23251371
8.  Medically Underserved Girls Receive Less Evaluation for Short Stature 
Pediatrics  2011;127(4):696-702.
To determine if gender is associated with diagnostic evaluation by primary care pediatricians caring for children with growth-faltering.
This was a retrospective study of children who were attending 4 urban pediatric primary care practices affiliated with a tertiary pediatric hospital. Growth-faltering was defined as height at the <5th percentile or a z-score decrease of ≥1.5 SDs before 18 months of age or ≥1 SD thereafter. For each child, height z score, age, gender, race, insurance, diagnostic tests, and subspecialist appointments were examined.
Of 33 476 children, 3007 had growth-faltering (mean height: −1.5 ± 1.0 vs 0.3 ± 0.9 SDs in those without growth-faltering). Boys comprised 53% of the growth-faltering group (vs 51% of the nonfaltering group; P < .01). Among children with growth-faltering, 2.8% had endocrinology appointments (vs 0.8% of others; P < .0001) and 6% had gastroenterology appointments (vs 1.5% of others; P < .0001). Subspecialty care was not associated with gender. Pediatricians ordered diagnostic tests for a significantly greater proportion of children with growth-faltering than others. In multivariate analysis of height z score among children with growth-faltering, tests for chromosomes (1.4% of short girls vs 0.4% of short boys; P < .005) and growth hormone/insulin-like growth factor axis (0.9% of short girls vs 1.8% of short boys; P < .05) were associated with gender. Thirty-five percent of the girls for whom chromosome testing was performed were 12 years old or older.
Patterns in diagnostic testing of children with growth-faltering by their pediatricians may lead to underdiagnosis of Turner syndrome and growth hormone deficiency among girls.
PMCID: PMC3065076  PMID: 21422085
growth-faltering; gender; race; pediatric primary care; diagnostic testing; subspecialist referrals
9.  The demand for pregnancy testing: The Aschheim–Zondek reaction, diagnostic versatility, and laboratory services in 1930s Britain 
•Reconsiders pregnancy diagnosis alongside other laboratory services.•Shows how diagnostic versatility was made into a major selling point of the Aschheim-Zondek test.•Explains demand in terms of medical entrepreneurs and diagnostic consumers.
The Aschheim–Zondek reaction is generally regarded as the first reliable hormone test for pregnancy and as a major product of the ‘heroic age’ of reproductive endocrinology. Invented in Berlin in the late 1920s, by the mid 1930s a diagnostic laboratory in Edinburgh was performing thousands of tests every year for doctors around Britain. In her classic history of antenatal care, sociologist Ann Oakley claimed that the Aschheim–Zondek test launched a ‘modern era’ of obstetric knowledge, which asserted its superiority over that of pregnant women. This article reconsiders Oakley’s claim by examining how pregnancy testing worked in practice. It explains the British adoption of the test in terms less of the medicalisation of pregnancy than of clinicians’ increasing general reliance on laboratory services for differential diagnosis. Crucially, the Aschheim–Zondek reaction was a test not directly for the fetus, but for placental tissue. It was used, less as a yes-or-no test for ordinary pregnancy, than as a versatile diagnostic tool for the early detection of malignant tumours and hormonal deficiencies believed to cause miscarriage. This test was as much a product of oncology and the little-explored world of laboratory services as of reproductive medicine.
PMCID: PMC4275600  PMID: 24388014
Aschheim–Zondek test; Pregnancy hormone; Reproductive endocrinology; Diagnostic laboratory; Clinical pathology; Edinburgh
10.  Low and Normal IGF-1 Levels in Patients with Chronic Medical Disorders (CMD) is Independent of Anterior Pituitary Hormone Deficiencies: Implications for Treating IGF-1 Abnormal Deficiencies with CMD 
Over time, based on evidence–based medicine, a number of hormonal test levels including IGF-1 had been raised or lowered to meet new criteria standards. In particular, IGF-1 plasma levels have been shown in several studies to be an independent diagnostic tool in Adult Growth Hormone Deficiency (AGHD). Many endocrinology studies link low IGF-1 plasma levels with low levels of other anterior pituitary hormones (i.e., LH, FSH, and TSH). Low IGF-1 is considered by most to be between 84–100 µ/l and numerous studies recommend that raising IGF-1 to high normal range reverses Chronic Medical Diseases (CMD), improves bone mineral density (BMD), and fibromyalgia. Moreover, some studies suggest that low levels of IGF-1 by itself independent of anterior pituitary deficiencies is sufficient to determine AGHD in humans. In order to determine the relationship of low IGF-1 with that of LH, FSH, and TSH levels in subjects with CMD, we evaluated these levels (± SD) in 944 patients. Patients with IGF-1 below 84 µ/l, 100 µ/l, and 150 µ/l were accessed. 9.22% had less than 84 µ/l (SD ± 12.52); 19.9% had less than 100 µ/l (SD ± 9.54); and 51.6 had less than 150 µ/l (SD ± 26.0). Specifically, the percentages found for low LH, FSH, and TSH were only 4.2%, 4.8%, and 6.5%. We conclude that IGF-1 deficiencies occur independent of comorbid deficiencies of LH, FSH, and TSH. Finally, we propose that based on the present investigation, IGF-1 low levels between the range of 84–100 µ/l may be too low to be considered as an independent diagnostic marker to treat AGHD with CMD.
PMCID: PMC3632344  PMID: 23616929
Adult Growth Hormone Deficiency (AGHD); IGF-1 plasma levels; Chronic Medical Diseases (CMD); Anterior pituitary hormones; Luteinizing Hormone (LH); Thyroid-Stimulating Hormone (TSH); Follicle-Stimulating Hormone (FSH)
11.  Pediatric Gastroenterology Evaluation of Overweight and Obese Children Referred from Primary Care for Suspected Nonalcoholic Fatty Liver Disease 
Alimentary pharmacology & therapeutics  2013;38(10):1267-1277.
Screening overweight and obese children for nonalcoholic fatty liver disease (NAFLD) is recommended by pediatric and endocrinology societies. However, gastroenterology societies have called for more data before making a formal recommendation.
To determine whether the detection of suspected NAFLD in overweight and obese children through screening in primary care and referral to pediatric gastroenterology, resulted in a correct diagnosis of NAFLD.
Information generated in the clinical evaluation of 347 children identified with suspected NAFLD through screening in primary care and referral to pediatric gastroenterology was captured prospectively. Diagnostic outcomes were reported. The diagnostic performance of two times the upper limit of normal for alanine aminotransferase (ALT) was assessed.
NAFLD was diagnosed in 55% of children identified by screening and referral. Liver disease other than NAFLD was present in 18% of those referred. Autoimmune hepatitis was the most common alternate diagnosis. Children with NAFLD had significantly (p<0.05) higher screening ALT (98±95) than children with liver disease other than NAFLD (86±74). Advanced fibrosis was present in 11% of children. For the diagnosis of NAFLD, screening ALT two times the clinical upper limit of normal had a sensitivity of 57% and a specificity of 71%.
Screening of overweight and obese children in primary care for NAFLD with referral to pediatric gastroenterology has the potential to identify clinically relevant liver pathology. Consensus is needed on how to value the risk and rewards of screening and referral in order to identify children with liver disease in the most appropriate manner.
PMCID: PMC3984047  PMID: 24117728
12.  Paediatric gastroenterology evaluation of overweight and obese children referred from primary care for suspected non-alcoholic fatty liver disease 
Alimentary Pharmacology & Therapeutics  2013;38(10):1267-1277.
Screening overweight and obese children for non-alcoholic fatty liver disease (NAFLD) is recommended by paediatric and endocrinology societies. However, gastroenterology societies have called for more data before making a formal recommendation.
To determine whether the detection of suspected NAFLD in overweight and obese children through screening in primary care and referral to paediatric gastroenterology resulted in a correct diagnosis of NAFLD.
Information generated in the clinical evaluation of 347 children identified with suspected NAFLD through screening in primary care and referral to paediatric gastroenterology was captured prospectively. Diagnostic outcomes were reported. The diagnostic performance of two times the upper limit of normal (ULN) for alanine aminotransferase (ALT) was assessed.
Non-alcoholic fatty liver disease was diagnosed in 55% of children identified by screening and referral. Liver disease other than NAFLD was present in 18% of those referred. Autoimmune hepatitis was the most common alternative diagnosis. Children with NAFLD had significantly (P < 0.05) higher screening ALT (98 ± 95) than children with liver disease other than NAFLD (86 ± 74). Advanced fibrosis was present in 11% of children. For the diagnosis of NAFLD, screening ALT two times the clinical ULN had a sensitivity of 57% and a specificity of 71%.
Screening of overweight and obese children in primary care for NAFLD with referral to paediatric gastroenterology has the potential to identify clinically relevant liver pathology. Consensus is needed on how to value the risk and rewards of screening and referral, to identify children with liver disease in the most appropriate manner.
PMCID: PMC3984047  PMID: 24117728
13.  Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease. 
Archives of Disease in Childhood  1996;75(2):115-119.
AIM--To assess the value and safety of fasts for investigating hypoglycaemia or suspected metabolic disease. STUDY DESIGN--Review of all diagnostic fasts performed over a 2.5 year period. SETTING--The neonatal intensive care unit and programmed investigation unit at a tertiary referral centre for endocrinology and metabolic disease. RESULTS--138 diagnostic fasts were performed during the study period. Hypoglycaemia (< 2.6 mmol/l) occurred in 54 cases but in only four did the blood glucose concentration fall below 1.5 mmol/l. One patient became unwell as a result of a fast, but prompt treatment averted any sequelae. Specific endocrine or metabolic defects were identified in 30 cases, the most common being hyperinsulinism and beta-oxidation defects. CONCLUSIONS--Fasting is safe if conducted on an experienced unit with appropriate guidelines. It continues to provide useful information for diagnosis and management, particularly in cases of hyperinsulinism. Diagnoses should, however, be established by lower risk procedures whenever possible. Thus specimens for metabolic and endocrine studies should be obtained during the presenting episode and blood acylcarnitine species should be analysed prior to fasting.
PMCID: PMC1511644  PMID: 8869190
14.  UK Audit of Childhood Growth Hormone Prescription, 1998 
Archives of Disease in Childhood  2001;84(5):387-389.
AIMS—To identify all young people prescribed growth hormone in the UK as of 1 October 1998 and to determine their age, sex, and the indication for therapy.
METHODS—Cross sectional national postal audit through members of the British Society for Paediatric Endocrinology and Diabetes (BSPED) and other paediatricians identified as potential prescribers of growth hormone. Main outcome measures were age, sex, and numbers of children receiving growth hormone by diagnostic category, analysed throughout the UK and by NHS region.
RESULTS—A total of 3228 children (aged 0.3 to 23.9 years) receiving growth hormone were identified by contacting 171 paediatricians (149 BSPED members). Of these, 2395 (74%) were identified who were under 16 years—representing 19.8/100 000 children in that age range in the UK—and in whom full data concerning diagnostic category were available. In the under 16s, there were 1209 (50.4%) boys and 1186 (49.6%) girls (excluding the 477 girls with Turner's syndrome: 63% boys and 37% girls). A total of 78% of the prescriptions were for licensed indications (primary and secondary growth hormone deficiency, Turner's syndrome, and chronic renal disease); 22% were for unlicensed indications (intrauterine growth restriction, bony dysplasia, Noonan syndrome, and other "short normals"). These proportions are similar to those reported in previous audits and by postmarketing surveillance from Pharmacia & Upjohn Ltd in the year 2000. Patterns of treatment were relatively uniform between regions.
CONCLUSIONS—A national audit of UK growth hormone prescription indicates uniform prescribing practice between regions, low levels of prescription beyond licensed indications, and stable patterns of prescribing practice over the past two years.

PMCID: PMC1718761  PMID: 11316678
15.  Medical apps in endocrine diseases – hide and seek 
Quantitative review and categorization of available endocrinology related mobile apps for the iOS platform (Apple®) and outline of search strategies to identify appropriate mobile apps for this field.
A total of 80 endocrinology related search terms were collected and grouped into 8 main categories covering different areas of endocrinology. These terms were then used to perform comprehensive searches in three categories of Apple’s app store, namely ‘Medicine’, ‘Health and Fitness’, and ‘Reference’.
Altogether, matches were found for only 33 of the 80 collected endocrinology related search terms; the majority of matches were found in the medical category, followed by matches for the health and fitness (27/33), and reference (16/33) categories. Restricting the search to these categories significantly helped in discriminating between health related apps and those having another purpose. The distribution of apps per category roughly matches what one can expect considering available data for incidence and prevalence of corresponding endocrinological conditions. Apps matching terms belonging to the spectrum of glucose homeostasis disorders are the most common. For conditions where patients do not have to constantly monitor their condition, apps tend to have a reference or educational character, while for conditions that require a high level of involvement from patients, there are proportionally more apps for self-management. With a single exception, the identified apps had not undergone regulation, and information about the data sources, professional backgrounds, and reliability of the content and integrated information sources was rare.
While applying a good search strategy is important for finding apps for endocrinology related problems, users also need to consider whether the app they have found respects all necessary criteria regarding reliability, privacy and data protection before they place their trust in it.
PMCID: PMC4141527  PMID: 25152809
endocrinology; mobile apps
16.  Interpretation and Use of Natriuretic Peptides in Non-Congestive Heart Failure Settings 
Yonsei Medical Journal  2010;51(2):151-163.
Natriuretic peptides (NPs) have been found to be useful markers in differentiating acute dyspneic patients presenting to the emergency department (ED) and emerged as potent prognostic markers for patients with congestive heart failure (CHF). The best-established and widely used clinical application of BNP and NT-proBNP testing is for the emergent diagnosis of CHF in patients presenting with acute dyspnea. Nevertheless, elevated NPs levels can be found in many circumstances involving left ventricular (LV) dysfunction or hypertrophy; right ventricular (RV) dysfunction secondary to pulmonary diseases; cardiac inflammatory or infectious diseases; endocrinology diseases and high output status without decreased LV ejection fraction. Even in the absence of significant clinical evidence of volume overload or LV dysfunction, markedly elevated NP levels can be found in patients with multiple comorbidities with a certain degree of prognostic value. Potential clinical applications of NPs are expanded accompanied by emerging reports regarding screening the presence of secondary cardiac dysfunction; monitoring the therapeutic responses, risk stratifications and providing prognostic values in many settings. Clinicians need to have expanded knowledge regarding the interpretation of elevated NPs levels and potential clinical applications of NPs. Clinicians should recognize that currently the only reasonable application for routine practice is limited to differentiation of acute dyspnea, rule-out-diagnostic-tests, monitoring of therapeutic responses and prognosis of acute or decompensated CHF. The rationales as well the potential applications of NPs in these settings are discussed in this review article.
PMCID: PMC2824858  PMID: 20191004
Natriuretic peptides; acute coronary syndrome; cardiac dysrhythmia; pulmonary embolism; pulmonary hypertension; hyperthyroidism; cirrhosis of liver; renal failure; sepsis; stroke; carbon monoxide intoxication
17.  Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team 
The Gender Medicine Team (GMT), comprised of members with expertise in endocrinology, ethics, genetics, gynecology, pediatric surgery, psychology, and urology, at Texas Children's Hospital and Baylor College of Medicine formed a task force to formulate a consensus statement on practice guidelines for managing disorders of sexual differentiation (DSD) and for making sex assignments. The GMT task force reviewed published evidence and incorporated findings from clinical experience. Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) was used to assess the quality of evidence presented in the literature for establishing evidence-based guidelines. The task force presents a consensus statement regarding specific diagnostic and therapeutic issues in the management of individuals who present with DSD. The consensus statement includes recommendations for (1) laboratory workup, (2) acute management, (3) sex assignment in an ethical framework that includes education and involvement of the parents, and (4) surgical management.
PMCID: PMC2963131  PMID: 20981291
18.  Endocrinology of Hirsutism 
Hirsutism represents a primary clinical indicator of androgen excess. The most common endocrine condition causing hirsutism is polycystic ovary syndrome (PCOS). Diagnosing PCOS is not easy as the signs and symptoms are heterogenous. The newest diagnostic guideline made by the Androgen Excess and PCOS Society in 2006, claims the presence of hyperandrogenism, and ovarian dysfunction (oligo / anovulation and / or polycystic ovaries). Obesity associated reproductive and metabolic dysfunctions may aggravate the symptoms of PCOS. PCOS might be underdiagnosed in non obese women because lean PCOS phenotypes might be underestimated for the syndrome. Effective medical treatment of PCOS and associated hirsutism depends on the endocrinological expertise and experience of the therapist in each individual case. An algorithm for the treatment has not been established yet.
PMCID: PMC3002408  PMID: 21188021
Endocrinology; hirsutism; medical treatment; polycystic ovary syndrome
19.  Extracorporal hemodialysis with acute or decompensated chronical hepatic failure 
Conventional diagnostic procedures and therapy of acute liver failure (ALF) and acute-on-chronic liver failure (ACLF) focus on to identify triggering events of the acute deterioration of the liver function and to avoid them. Further objectives are to prevent the development respectively the progression of secondary organ dysfunctions or organ failure. Most of the times the endocrinological function of the liver can to a wide extent be compensated, but the removal of toxins can only marginally be substituted by conventional conservative therapy. To improve this component of the liver function is the main objective of extracorporal liver support systems. The following principles of liver support systems can be differentiated: Artificial systems, bioartifical systems and extracorporal liver perfusion systems. This HTA report focuses on artificial systems (e.g. BioLogic-DT/-DTPF, MARS, Prometheus), because only these approaches currently are relevant in the German health care system. In 2004 a category "Extracorporal liver assist device" was introduced in the list of "additional payments" in the German DRG-system, which makes reimbursement for hospitals using the technology in inpatient care possible, based on an hospital's individual contract with statutory sickness funds.
To report the present evidence and future research need on medical efficacy and economic effectiveness of extracorporal liver support devices for treatment of patients with ALF or ACLF based on published literature data. Are artificial liver support systems efficient and effective in the treatment of ALF or ACLF?
An extensive, systematic literature search in medical, economic, and HTA literature data bases was performed. Relevant data were extracted and synthesised.
Relevant controlled trials were detected for BioLogic-DT and MARS. No randomised controlled trial on Prometheus was found. None of the included studies on BioLogic-DT showed advantages of the technology compared with standard conventional therapy concerning survival, clinical scores or clinical surrogate parameter like laboratory tests of liver function. Some studies reported complications and side effects of BioLogic-DT. All studies were methodologically insufficient. Concerning the use of MARS overall five studies - three of them randomised - were identified. Two studies reported a significant higher 30d-survival after MARS compared to controls, one study showed a non-significant trend to a better survival probability after one year. The studies showed statistically significant advantages in severity of hepatic encephalopathy, routine lab tests and hemodynamic parameter of the MARS group. None of the studies reported relevant complications or side effects. Although the methodological quality of the studies is seen as slightly better than in the studies on BioLogic-DT, there are methodological limitations: The largest sample size of the randomised trials was twelve patients per group and the study population was highly selected. Because of the methodological limitations the results can hardly be generalised. Only two economic publications presenting analyses of MARS could be de-tected. One publication shows major methodological mistakes which make a further interpretation of the results impossible. The other publication presents an incremental cost-effectiveness of MARS of 29,719 EUR per life year gained after one year from a payer's perspective (German statutory sickness fund, neglecting the intervention costs because of lacking reimbursement at this time), respectively 79,075 EUR per life year gained from a societal perspective. Including health related quality of life aspects the incremental costs per QALY (Quality adjusted life years) gained were calculated to be 44,784 EUR from a payer's perspective respectively 119,162 EUR from a societal perspective. The authors state that prolonging the time horizon of the calculations would improve cost-effectiveness ratios. The limitations of the study design also limit the scientific evidence of the results.
The results of the detected publications do not give any evidence for a positive medical efficacy of BioLogic-DT. Concerning MARS there is some evidence for positive effects on 30d-survival, clinical parameter, and some lab tests, although the evidence is limited by the small number of studies and their methodological weakness. The currently strongly limited evidence shows a trend to an acceptable cost-effectiveness of MARS, although the results are based on only one non-randomised trial.
To give valid recommendations concerning the medical efficacy as well as the cost-effectiveness of artificial liver support systems further studies are necessary.
PMCID: PMC3011342  PMID: 21289959
extracorporal liver perfusion; hemodialysis; liver insufficiency; liver injury; hepatitic injury
20.  Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients 
Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly variable degrees of craniofacial and midline anomalies. HPE is a classic example of a complex genetic trait with “pseudo”-autosomal dominant transmission showing incomplete penetrance and variable expressivity. Clinical suspicion of HPE is typically based upon compatible craniofacial findings, the presence of developmental delay or seizures, or specific endocrinological abnormalities, and is then followed up by confirmation with brain imaging. Once a clinical diagnosis is made, a thorough genetic evaluation is necessary. This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g. Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular studies of the most common HPE associated genes (e.g. SHH, ZIC2 and SIX3). In this review, we provide current step-by-step recommendations that are medically indicated for the genetic evaluation of patients with newly diagnosed HPE. Moreover, we provide a brief review of several available methods used in molecular diagnostics of HPE and describe the advantages and limitations of both currently available and future tests as they relate to high throughput screening, cost, and the results that they may provide.
PMCID: PMC2815008  PMID: 20104604
holoprosencephaly; HPE; disease genes; multi-factorial inheritance; molecular diagnostics
21.  Multidisciplinary Reference Centers: The Care of Neuroendocrine Tumors 
Journal of Oncology Practice  2010;6(6):e11-e16.
As providers at a neuroendocrine tumor multidisciplinary reference center, the authors believe these centers have a positive effect on patient and provider experience, and the creation of specialty centers with a focus on improving outcomes and quality of care should be a goal of health care systems.
The purpose of this study was to review the need for and benefits of multidisciplinary care in patients with cancer, to describe our experience setting up a multidisciplinary reference center (MRC) dedicated to the treatment of the uncommon cancer neuroendocrine tumors (NETs), and to present the perspective of a patient seeking treatment at our center.
The literature was searched to review the outcomes of patients with cancer treated by a multidisciplinary team.
Multidisciplinary care for patients with more common cancers has been associated with improvements in diagnosis, treatment planning, survival, patient satisfaction, and clinician satisfaction. Similar benefits have been seen in patients with NETs receiving treatment at a specialty center. The establishment of our NETs MRC allows us to offer integrated care, providing surgical oncology and medical oncology disciplines; nurses well experienced in the treatment of NETs; and the expertise of endocrinology, diagnostic radiology, and interventional radiology specialists. Since our clinic was established, we have increased our availability to see patients and have received positive feedback from those attending.
MRCs have been associated with improved patient outcomes. As providers at a dedicated NETs MRC, we feel that these centers have a positive effect on both patient and provider experience. The creation of specialty centers with a focus on improving outcomes and quality of care should be a goal of health care systems and are especially important for patients with NETs and other rare cancers.
PMCID: PMC2988672  PMID: 21358944
22.  Giant adrenal cyst: case study  
Journal of Medicine and Life  2010;3(3):308-313.
One of the rarest situations regarding an adrenal incidentaloma is an adrenal cyst. We present the case of a 61Z–year old male patient diagnosed with peritonitis. During surgery, a right adrenal tumor of 2 cm is discovered. The patient was referred to endocrinology. 6 months later the diameter of the tumor is 7 times bigger than the initial stage. It has no secretory phenotype, except for the small increase of serum aldosterone and the 24–h 17–ketosteroids. Open right adrenalectomy is performed and a cyst of 15 cm is removed. The evolution after surgery is good. The pathological exam reveals an adrenal cyst with calcifications and osteoid metaplasia. The immunohistochemistry showed a positive reaction for CD34 and ACT in the vessels and VIM in the stroma. The adrenal cysts are not frequent and represent a challenge regarding the preoperative diagnostic and surgical procedure of resection. The pathological exam highlights the major aspects.
PMCID: PMC3018989  PMID: 20945822
adrenal cyst; adrenalectomy
23.  Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes 
Molecular Vision  2011;17:2072-2079.
Optic nerve aplasia (ONA, OMIM 165550) is a very rare unilateral or bilateral condition that leads to blindness in the affected eye, and is usually associated with other ocular abnormalities. Although bilateral ONA often occurs in association with severe congenital anomalies of the brain, nonsyndromic sporadic forms with bilateral ONA have been described. So far, no autosomal-dominant nonsyndromic ONA has been reported. The genetic basis of this condition remains largely unknown, as no developmental genes other than paired box gene 6 (PAX6) are known to be implicated in sporadic bilateral ONA.
The individuals reported underwent extensive ophthalmological, endocrinological, and neurologic evaluation, including neuroimaging of the visual pathways. In addition genomewide copy number screening was performed.
Here we report an autosomal-dominant form of nonsyndromic ONA in a Belgian pedigree, with unilateral microphthalmia and ONA in the second generation (II:1), and bilateral ONA in two sibs of the third generation (III:1; III:2). No PAX6 mutation was found. Genome wide copy number screening revealed a microdeletion of maximal 363 kb of chromosome 10q23.33q23.33 in all affected individuals (II:1, III:1; III:2) and in unaffected I:1, containing three genes: exocyst complex component 6 (EXOC6), cytochrome p450, subfamily XXVIA, polypeptide 1 (CYP26A1), and cytochrome p450, subfamily XXVIC, polypeptide 1 (CYP26C1). The latter two encode retinoic acid-degrading enzymes.
This is the first study reporting an autosomal-dominant form of nonsyndromic ONA. The diagnostic value of neuroimaging in uncovering ONA in microphthalmic patients is demonstrated. Although involvement of other genetic factors cannot be ruled out, our study might point to a role of CYP26A1 and CYP26C1 in the pathogenesis of nonsyndromic ONA.
PMCID: PMC3156792  PMID: 21850183
24.  Accuracy of ultrasound-guided fine-needle aspiration cytology for diagnosis of carcinoma in patients with multinodular goiter 
Fine-needle aspiration (FNA) is a useful method for evaluating multinodular goiter; however, its role is still controversial. The aim of this study was to assess the utility of ultrasound-guided thyroid FNA in detecting malignancy in patients with multinodular goiter in Oman.
Materials and Methods:
This was a retrospective study where all patients with multinodular goiter seen at the Sultan Qaboos University Hospital endocrinology clinic in Oman in 2005 were evaluated. The thyroid FNA results were grouped into either malignancy (positive result) or others (negative result). They were compared to those of final histopathological examination in order to calculate the value of the test in diagnosing malignancy. Analyses were evaluated using descriptive statistics.
A total of 272 patients were included in the study. The mean age was 39΁13 years with an age range from 5 to 85 years. The majority of the patients were females (n=236; 87%). The results of thyroid FNA revealed that 6% (n=15) of the patients had malignancies while histopathological results showed that the proportion of subjects with malignancies was 18% (n=49). Out of the 15 cases identified to have malignances by thyroid FNA, only 53% (n=8) of the subjects were confirmed to have malignancy by biopsy. Overall, the results of the tests were poor, revealing a sensitivity of 16%, specificity of 97% and a diagnostic accuracy of 82%, with a positive predictive value of 53% and a negative predictive value of 84%.
Thyroid FNA is not a useful test in differentiating multinodular goiter from malignancy, as more than 80% of the malignancies go unnoticed.
PMCID: PMC3169873  PMID: 21966650
Fine-needle aspiration; malignancy; multinodular goiter
25.  P36 - Severe Osteoporosis in Cushing’s Syndrome 
Cushing’s syndrome is characterised by a series of clinical manifestations due to hypersecretion of cortisol. These include: arterial hypertension, diabetes mellitus (DM), asthenia, amenorrhea, osteoporosis and pathological fractures. We describe the case of a 70-year-old woman with Cushing’s syndrome with right adrenal adenoma, vertebral compression fractures (VCFs) and severe secondary osteoporosis. This patient had been diagnosed with Cushing’s syndrome in May 2008, three years after the onset of arterial hypertension and type II DM, treated with insulin; in July 2008, she underwent right adrenalectomy and replacement therapy with cortisone acetate, 37.5 mg/day, in association with a multiple drug regimen for hypertension and DM; she also had an at least 10-year history of dorso-lumbar pain with multiple disc protrusions. As part of a series of investigations for Cushing’s syndrome the patient underwent femoral bone mineral densitometry, recording a T-score <−3, radiographic examination of the dorso-lumbar spine, which revealed collapse of the superior endplate of D7 and a wedge fracture of D8. At the endocrinology centre of reference for Cushing’s syndrome, she began treatment with alendronate 70 mg/day without undergoing blood chemistry tests of bone metabolism and without calcium and vitamin D supplementation. At the end of August 2009, she experienced worsening spinal pain due to a new severe fracture of D9, which was confirmed on MRI as a recent fracture. At the end of December 2009 she received kyphoplasty of D9, antiresorptive therapy and a CAMP-C35 brace.
In January 2010 she was admitted to the specialist rehabilitation unit for functional recovery, in view of her comorbidities, and bone disease investigation, with collection of history relating to osteoporosis risk factors. First- and second-level blood chemistry analyses revealed the presence of iron-deficiency anaemia, mild chronic renal insufficiency, and secondary hyerparathyroidism (PTH 101ng/ml); spinal radiography revealed severe VCFs of D7, D8 and D9, treated with kyphoplasty; the patient was also assessed using the VAS for pain, the FIM to evaluate independence in activities of daily living, and the SF-36 to investigate quality of life. The alendronate treatment was suspended and the patient was given cholecalciferol 300,000 IU, administered as an oral bolus, followed by a maintenance dose of 800 IU/day. When PTH values had returned to normal, she began treatment with teriparatide 20 mcg/day s.c. (therapeutic plan in compliance with Note 79 issued by the AIFA - Italian Drug Agency).
In conclusion, this case underlines the importance of a correct diagnostic and therapeutic approach in patients with severe osteoporosis. Over time, we will evaluate the efficacy of the treatment in preventing new fractures and the whether the use of a bone anabolic agent might be the correct choice also in order to control pain and improve quality of life. There are no reports in the literature of patients with Cushing’s syndrome treated with teriparatide.
PMCID: PMC3213844

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