Acromegaly as an expression of a rare disease: description of an unusual clinical case of Carney Complex

Introduction: The Carney complex (CC) is an autosomal dominant syndrome, characterized by multiple endocrine neoplasms, pigmented skin lesions, endocrine hyper-activity and myxomas. Case study: C. E., 71 years old, was addressed to our center in August 1994, following the finding of a sellar enlargement in a skull radiography performed after an accident. A pituitary tomography showed the presence of a lesion extended up to the optic chiasm, a macroadenoma that was treated with transsphenoidal endoscopic surgery. A histological diagnosis of a “GH secreting macroadenoma” was performed. An echocardiographic study highlighted an atrial isolated myxoma that was subsequently removed. A contrast-enhanced abdominal magnetic resonance imaging (MRI) excluded adrenal lesions. In 2001, in relation to relapse of Acromegaly, the patient started therapy with somatostatin analogues which was replaced, in 2008, by Pegvisomant to obtain biochemical control of the disease. Conclusions: At the time of initial screening, it is important not to underestimate the possibility that certain clinical features fall within the context of more complex syndromes. The knowledge of how Acromegaly presents itself in relation to CC and its associated characteristics such as cardiac myxoma or typical skin lesions, will help clinicians to timely diagnose this rare disease and treat it appropriately

Atypical celiac disease as cause of increased need for thyroxine: a systematic study

Objective: Replacement T-4 dose in hypothyroid patients bearing both chronic autoimmune thyroiditis and atypical celiac disease (CD) has been analyzed. Design: Replacement T-4 dose has been analyzed in 35 hypothyroid patients with Hashimoto's thyroiditis (HT) and atypical CD, as defined by the American Gastroenterological Association. We have evaluated the ability of the same dose of T-4 to reach target TSH in 21 patients before and during gluten-free diet (GFD). In the remaining 14 patients, noncompliant with GFD, we analyzed replacement T-4 dose and compared it with that in a similar group consisting of 68 patients with hypothyroid HT but no evidence of celiac sprue or other conditions interfering with T-4 absorption. Results: In patients with isolated HT, the desired serum TSH (median = 1.02 mU/liter) was reached in all patients after 5 +/- 2 months of treatment at a median T-4 dose of 1.31 mu g/kg.d. After a similar period and dose of T-4, higher levels of TSH (median = 4.20 mU/liter) were observed in patients with HT and CD. In 21 CD patients, target TSH (median TSH = 1.25 mU/liter) has been attained after 11 +/- 3 months of GFD without increasing T-4 dose (1.32 mu g/kg.d). In the remaining 14 patients, who were noncompliant with GFD, target TSH has also been achieved but at a higher T-4 dose (median = 1.96 mu g/kg.d; + 49%; P = 0.0002) than in hypothyroid patients without CD. Conclusions: Atypical CD increases the need for T-4. The effect was reversed by GFD or by increasing T-4 dose. Malabsorption of T-4 may provide the opportunity to detect CD that was overlooked until the patients were put under T-4 therapy

La radioterapia stereotassica nel controllo dell'acromegalia

Elevati valori basali di GH e di IGF1 prima dell'intervento sono fattori predittivi dell'insuccesso chirurgico, scarsa riserva funzionale ipofisaria e iperprolattinemia. Un'obiezione al trattamento radiochirurgico piuttosto che radioterapico tradizionale è data dal fatto che la neoformazione debba sempre poter essere evidenziata attraverso le neuroimmagini. Qualora non si riesca a documentare l'estensione della lesione, la radioterapia stereotassica, particolarmente precisa non riuscirebbe a eradicare la malattia. E' da ritenere positiva l'esperienza qui riportata di sei pazienti acromegalici, di età compresa tra i 33 e i 55 anni, sottoposti a radiochirurgia stereotassica con apparecchiatura Gamma Knife dal 1982 al 2002

Eosinophilia – associated basal plasmacytosis: an early and sensitive histologic feature of inflammatory bowel disease

Basal plasmacytosis is an early-onset and highly predictive feature of inflammatory bowel disease (IBD), but may have several restrictions in routine histology. Considering evidences about cooperation between eosinophils and plasma cells in IBD pathogenesis, we investigated immunostain of these two cells as a marker of disease. 343 samplings from 83 patients (52 IBD, 31 non-IBD colitis) were evaluated. The sections were stained with monoclonal antibodies against plasma cells (CD138 and MUM1), and eosinophils (CD193). Eosinophilia-associated basal plasmacytosis (EBP) was related with the histologic diagnosis of IBD (90.3% IBD and 35.4% non-IBD colitides, p < 0.005, sensitivity 90.4%). A strong relation was detected between the occurrence of EBP and (i) the achieving of a complete endoscopic mapping; (ii) the presence of other characteristic lesions of IBD in single segmental sampling, although EBP was evident in more than 40% of samples without other IBD-related lesions. EBP is a sensitive histologic feature of IBD, especially at the first endoscopic sampling, even in the absence of the other characteristic histologic lesions, and may help in formulating a more precise diagnosis in this setting

Poliprotect vs Omeprazole in the Relief of Heartburn, Epigastric Pain, and Burning in Patients Without Erosive Esophagitis and Gastroduodenal Lesions: A Randomized, Controlled Trial

Introduction: In the treatment of upper GI endoscopy-negative patients with heartburn and epigastric pain or burning, antacids, antireflux agents, and mucosal protective agents are widely used, alone or as add-on treatment, to increase response to proton-pump inhibitors, which are not indicated in infancy and pregnancy and account for significant cost expenditure. Methods: In this randomized, controlled, double-blind, double-dummy, multicenter trial assessing the efficacy and safety of mucosal protective agent Poliprotect (neoBianacid, Sansepolcro, Italy) vs omeprazole in the relief of heartburn and epigastric pain/burning, 275 endoscopy-negative outpatients were given a 4-week treatment with omeprazole (20 mg q.d.) or Poliprotect (5 times a day for the initial 2 weeks and on demand thereafter), followed by an open-label 4-week treatment period with Poliprotect on-demand. Gut microbiota change was assessed. Results: A 2-week treatment with Poliprotect proved noninferior to omeprazole for symptom relief (between-group difference in the change in visual analog scale symptom score: [mean, 95% confidence interval] -5.4, -9.9 to -0.1; -6.2, -10.8 to -1.6; intention-to-treat and per-protocol populations, respectively). Poliprotect's benefit remained unaltered after shifting to on-demand intake, with no gut microbiota variation. The initial benefit of omeprazole was maintained against significantly higher use of rescue medicine sachets (mean, 95% confidence interval: Poliprotect 3.9, 2.8-5.0; omeprazole 8.2, 4.8-11.6) and associated with an increased abundance of oral cavity genera in the intestinal microbiota. No relevant adverse events were reported in either treatment arm. Discussion: Poliprotect proved noninferior to standard-dose omeprazole in symptomatic patients with heartburn/epigastric burning without erosive esophagitis and gastroduodenal lesions. Gut microbiota was not affected by Poliprotect treatment. The study is registered in Clinicaltrial.gov (NCT03238534) and the EudraCT database (2015-005216-15)

Bloating is associated with worse quality of life, treatment satisfaction, and treatment responsiveness among patients with constipation-predominant irritable bowel syndrome and functional constipation

Background: The management of bloating is unclear and its relationship with patients' well-being and treatment satisfaction independent of other abdominal symptoms is uncharacterized. We evaluated the association of bloating with patient-reported outcomes. Methods: Thirty-nine centers for functional gastrointestinal disorders joined the laxative inadequate relief survey. We enrolled 2203 consecutive outpatients with functional constipation (FC) or constipation-predominant irritable bowel syndrome (IBS-C) in two cross-sectional waves. Both wave 1 and 2 included the SF-12, the patient assessment of constipation-symptoms (PAC-SYM), and the treatment satisfaction questionnaire for medication (TSQM-2). Wave 2 only included a global rating of change (GRC) scale to assess patients' assessment of efficacy concerning treatment switches occurred in the 3 months prior to the interview. Bloating in the abdomen was defined on the basis of PAC-SYM item 3. Key Results: The average age was 50.1 years (SD, 16.7) and 82.1% of patients were women. The prevalence of bloating was 91.6% (n = 1970). Bloating was associated with SF-12 Physical Composite Score (p &lt; 0.01), SF-12 Mental Composite Score (p &lt; 0.01), GRC (p &lt; 0.01), Satisfaction with treatment effectiveness (p &lt; 0.01), convenience of administration (p &lt; 0.01), and side effects (p &lt; 0.01) after adjustment for possible confounders. Conclusions &amp; Inferences: Our data suggest that patients regard bloating as a key element in assessing clinical changes and treatments' efficacy as this symptom exerts a strong influence on patient-reported outcomes independent of possible confounders and other symptoms of constipation. Our data provide the rationale to investigate the efficacy and tolerability of new treatments specifically addressing this important, yet disregarded, patients' complain

Confirmatory factor analysis of the Patient Assessment of Constipation-Symptoms (PAC-SYM) among patients with chronic constipation

Background and aim: PAC-SYM is widely adopted to asses constipation severity. However, it has been validated in a small sample, few items have been included based on expert opinion and not on empirical grounds, and its factor structure has never been replicated. We aimed at evaluating the psychometric properties of PAC-SYM in patients with chronic constipation. Methods: We enrolled 2,203 outpatients with chronic constipation in two waves. We used wave I sample to test the psychometric properties of the PAC-SYM and wave II sample to cross-validate its factor structure, to assess criterion validity, responsiveness to clinical change, and its minimal clinically important difference. Results: Only a minority of patients reported any rectal tearing (38 %). Deletion of such item leads to a 11-item version (M:PAC-SYM). The remaining items in the rectal domain were moderately correlated with the stool domain. Exploratory factor analysis and confirmatory factor analysis revealed a bifactor structure with two subscales (stool and abdominal symptoms) and a general severity factor. The M:PAC-SYM demonstrated excellent reliability, moderate correlation with SF-12 and treatment satisfaction (r = 0.28-0.45), discrimination across Rome III criteria for functional constipation and abdominal pain, and responsiveness to clinical change (β = -0.49; ω2 = 0.25). M:PAC-SYM minimal clinically important difference was 0.24. Conclusion: Our analysis shows that the rectal domain may not represent a relevant cluster of symptoms for patients with chronic constipation. We developed a modified version of the PAC-SYM which might better represent symptom severity of most patients seeking care in gastroenterology referral centers