Development of a new patient-reported outcome measure assessing activities and participation in people with lumbar spinal stenosis: The Cochin Spinal Stenosis 19-item questionnaire.

BACKGROUND: Lumbar spinal stenosis (LSS) is the leading cause of spinal surgery in people over 65-years old. In people with LSS, generic self-administered questionnaires are the most commonly used PROs to assess health-related quality of life, global activity limitation, and low back pain-located activity limitation. AIM: The aim was to develop a new patient-reported outcome measure assessing activities and participation in people with LSS. DESIGN: Observation, prospective and qualitative study. SETTING: For the qualitative study, were enrolled in- and outpatients with LSS from 2 French tertiary care centers (Department of PRM of Cochin Hospital and Department of Rheumatology of Limoges Hospital). For the Internet E-survey, screened the electronic medical records of the Department of PRM of Cochin Hospital. POPULATION: From February to April 2018 were enrolled patients older than 50-years and symptomatic LSS. METHODS: We used a 2-step approach. In a first step, we conducted a qualitative study using in-depth semi-structured interviews in 20 patients with LSS to collect meaningful concepts and to develop a provisional questionnaire. In a second step, using the provisional questionnaire, we conducted an Internet E-survey in an independent sample of 200 patients with LSS. RESULTS: Concepts collected from patients generated a 48-item provisional questionnaire. Overall, 63/200 (31.5%) patients completed the provisional questionnaire. Item reduction resulted in a 19-item questionnaire, the Cochin Spinal Stenosis 19-item (CSS-19) questionnaire. Principal component analysis extracted 3 factors. In confirmatory analysis, factor 1 influenced all items. We found convergent validity with low back pain, LSS-specific disability and divergent validity with mental health-related quality of life. Cronbach α coefficient (95% CI) was 0.96 (0.94; 0.97). ICC was 0.90 (0.70; 0.97). Bland and Altman analysis found no systematic trend for test-retest. CONCLUSIONS: CSS-19 is a new patient-reported outcome measure assessing activities and participation in people with LSS. Its construction prioritized patients' perspectives at all stages. Its content and construct validities are good. CLINICAL REHABILITATION IMPACT: Instruments able to capture specific needs of people with LSS in terms of activities and participation are lacking.

Clinical and diagnostic aspects of gluten related disorders.

Gluten is one of the most abundant and widely distributed components of food in many areas. It can be included in wheat, barley, rye, and grains such as oats, barley, spelt, kamut, and triticale. Gluten-containing grains are widely consumed; in particular, wheat is one of the world's primary sources of food, providing up to 50% of the caloric intake in both industrialized and developing countries. Until two decades ago, celiac disease (CD) and other gluten-related disorders were believed to be exceedingly rare outside of Europe and were relatively ignored by health professionals and the global media. In recent years, however, the discovery of important diagnostic and pathogenic milestones led CD from obscurity to global prominence. In addition, interestingly, people feeding themselves with gluten-free products greatly outnumber patients affected by CD, fuelling a global consumption of gluten-free foods with approximately $2.5 billion in United States sales each year. The acknowledgment of other medical conditions related to gluten that has arisen as health problems, providing a wide spectrum of gluten-related disorders. In February 2011, a new nomenclature for gluten-related disorders was created at a consensus conference in London. In this review, we analyse innovations in the field of research that emerged after the creation of the new classification, with particular attention to the new European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for CD and the most recent research about non-celiac gluten sensitivity.

Fatigue and pruritus at onset identify a more aggressive subset of primary biliary cirrhosis.

BACKGROUND & AIMS: In recent years, primary biliary cirrhosis is mostly diagnosed in patients who are asymptomatic; however, a proportion of cases still present with typical complaints such as fatigue and/or pruritus. We compared biochemical, histological and immunological features of patients with or without fatigue and/or pruritus at onset to see whether the different clinical presentation may eventually impact on disease progression. METHODS: We analysed the Bologna cohort of 216 patients with primary biliary cirrhosis referred to our Centre between 1997 and 2007, according to symptomatic (fatigue and/or pruritus) or asymptomatic presentation. Clinical, biochemical, histological and immunological feature at diagnosis, response to ursodeoxycholic acid and progression of the disorder were compared after a mean follow-up of 81 ± 75 months. RESULTS: At diagnosis, symptomatic patients were significantly more often women (98.6% vs. 87.2%, P = 0.004), younger (mean age 49 ± 12 vs. 55 ± 12 years, P = 0.003) and with more pronounced biochemical activity, as indicated by higher alkaline phosphatase (mean 2.93 ± 2 vs. 2.12, P = 0.002) and aminotransferase (mean 1.92 ± 1 vs. 1.47 ± 1.27, P = 0.014) levels, whereas histological stage and autoantibody profile were similar. Symptomatic patients were less likely to respond to ursodeoxycholic acid therapy (63% vs. 81%, P = 0.006) and developed more often cirrhosis and its complications (31% vs. 13%, P = 0.004). CONCLUSIONS: Fatigue and/or pruritus at onset identify a subset of patients with primary biliary cirrhosis who preferentially are women, younger, with a particularly active disease, less responsive to ursodeoxycholic acid treatment, and more inclined to evolve to cirrhosis and its complications.

Nailfold capillaroscopy in primary biliary cirrhosis: a useful tool for the early diagnosis of scleroderma.

BACKGROUND & AIM: Primary biliary cirrhosis (PBC) is frequently associated with other autoimmune diseases, including systemic sclerosis (SSc). In the last years many efforts have been dedicated to the research of widely accepted criteria for the early diagnosis of SSc. Since studies on the prevalence of early SSc in PBC patients are lacking, our aim was to investigate its hitherto unknown prevalence in a large cohort of PBC patients. METHODS: We studied 80 PBC patients and 72 patients with other chronic liver diseases. Diagnostic workup included research into signs of connective tissue disease, determination of autoantibody profile, and examination of capillary abnormalities through nailfold videocapillaroscopy. RESULTS: Ten PBC patients (12.5%) satisfied diagnostic criteria for early SSc and 5 (6.3%) had definite SSc. None of the patients in the control group were diagnosed either with early or definite SSc. No differences were observed in terms of aminotransferases, alkaline phosphatase, and liver function tests between PBC patients with and without associated SSc. CONCLUSIONS: Early SSc is significantly frequent in PBC patients. The detection of early SSc in PBC patients may lead to a prompt treatment of its complications, preventing inabilities and preserving the chance of liver transplantation.

Sequential presentation of primary biliary cirrhosis and autoimmune hepatitis.

BACKGROUND: Primary biliary cirrhosis (PBC)-autoimmune hepatitis (AIH) overlap syndrome is used to describe the coexistence of both diseases, with either a sequential or a simultaneous presentation in the same patient. Available studies have focused on the simultaneous form, whereas there is limited information on sequential PBC-AIH. We carried out a retrospective study of patients who sequentially developed PBC-AIH overlap syndrome. METHODS: The medical data of 1065 patients diagnosed with PBC (n=483) and AIH (n=582) were retrospectively analyzed. RESULTS: A sequential development of PBC-AIH was observed in 19 (1.8%) patients after a mean of 6.5 (1-14) years of follow-up. AIH developed in 12 (2.5%) PBC patients, whereas PBC occurred in seven (1.2%) patients with AIH. The baseline serologic and histological findings of patients who developed PBC-AIH were similar to those of patients with typical PBC or AIH. Eighteen patients were treated with a combination of ursodeoxycholic acid (UDCA) and immunosuppression after the diagnosis of PBC-AIH was established. One patient showed a spontaneous resolution of hepatitic flare under UDCA therapy. Biochemical remission was achieved in 16 patients, whereas three progressed to decompensated cirrhosis and required liver transplantation. CONCLUSION: The sequential overlap of PBC-AIH can occur during the follow-up of patients with pure PBC or AIH. In our cohort, we could not identify any factors that predicted the development of this rare condition. The combination of UDCA and immunosuppression seems to be an appropriate therapy in the setting of PBC-AIH.

Factors associated with response to therapy and outcome of patients with primary biliary cirrhosis with features of autoimmune hepatitis.

BACKGROUND & AIMS: For patients with primary biliary cirrhosis (PBC) with features of autoimmune hepatitis (AIH), treatment with ursodeoxycholic acid (UDCA) alone or in combination with immunosuppression is controversial. Little is known about the factors associated with initial response to therapy or outcome. We performed a retrospective analysis of treatment strategies and factors associated with outcomes of patients with PBC-AIH. METHODS: We analyzed data from 88 patients who were diagnosed with PBC-AIH according to Paris criteria, from 7 centers in 5 countries. First-line therapies included UDCA alone (n = 30) or a combination of UDCA and immunosuppression (n = 58). RESULTS: Of patients who received UDCA alone as the first-line therapy, 37% did not respond to treatment. Severe interface hepatitis was independently associated with lack of response to treatment (P = .024; odds ratio, 0.05; 95% confidence interval, 0.004-0.68). The combination of UDCA and immunosuppression was effective in 73% of patients who had not been previously treated or had not responded to UDCA. The presence of advanced fibrosis was associated with lack of response to the combination of UDCA and immunosuppression (P = .003; odds ratio, 0.13; 95% confidence interval, 0.03-0.48). Second-line immunosuppressive agents (cyclosporine, tacrolimus, and mycophenolate mofetil) led to biochemical remission in 54% of patients who did not respond to initial immunosuppression. Liver transplants were given to 4 patients with PBC-AIH. Five patients died during follow-up (3 from liver-related causes). CONCLUSIONS: In a retrospective study of a large cohort of patients with PBC-AIH, UDCA alone did not produce a biochemical response in most patients with severe interface hepatitis; these patients require additional therapy with immunosuppression. Second-line immunosuppressive agents are effective in controlling disease activity in patients who do not respond to conventional immunosuppression.

Fulminant type 1 autoimmune hepatitis in a recently diagnosed celiac disease patient.

Celiac disease (CD) is a small intestine immune-mediated disorder triggered by gluten ingestion in genetically predisposed patients. This condition can also affect many extraintestinal tissues, including the liver. We report a patient presenting with a marked increase of transaminases at diagnosis of CD. The immune markers for autoimmune hepatitis (AIH) were negative. Following a few months of a strict gluten-free diet (GFD), aminotransferase levels decreased significantly (< 2.5x U/L). The response to GFD suggested that the liver damage was due to a gluten-dependent celiac hepatitis, the most common liver abnormality in CD. Despite the fact that the patient never stopped the GFD, yet, in a few months, the aminotransferase levels raise again to high values (> 50x U/L). At this time, the liver autoantibodies turned to be positive thus confirming the development of a type 1 AIH. The hepatic damage progressed to a late onset liver failure requiring liver transplantation.

Eosinophilic granulomatosis with polyangiitis of the major salivary glands: a case of sialadenitis in a young patient.

A 23-year-old man was referred to our Emergency Department due to an acute-onset hemoptysis and the associated bilateral swelling of all of his major salivary glands. The elevated levels of systemic inflammatory markers with hypereosinophilia and the concurrent presence of multiple lung infiltrates made it difficult to perform a differential diagnosis, as these symptoms can also be indicative of infectious, autoimmune or hematologic disorders. A histological examination of the patient's left submandibular gland revealed strong clues as to the final diagnosis of eosinophilic granulomatosis with polyangiitis with an atypical clinical presentation, thus allowing for the administration of early and successful conservative therapy. The outcome of our case suggests that systemic vasculitis represents a rare but possible cause of acute bilateral sialadenitis in young patients.