Pulmonary manifestations in antisynthetase syndrome.

INTRODUCTION: Pulmonary manifestations are frequent in patients with antisynthetase syndrome which is a particular form of inflammatory myopathies. AIM: The aim of this study is to describe clinical features and long term outcome of interstitial lung disease in these patients. METHODS: This is a retrospective descriptive study in an internal medicine department. Patients with antisynthetase syndrome hospitalized from 2000 to 2014 were collected. RESULTS: There were nine patients; five women and four men. The mean age at diagnosis was 54.4 ±11.2 years. Interstitial lung disease was observed in all cases and revealed the disease in five cases. The more frequent aspect in high resolution computer thoracic scan was ground-glass opacities (n=8). Traction bronchiectasis and septal thickening were noted each one, in five cases. Honeycombing was observed in one case. Restrictive syndrome was noted in 4/4 cases. All patients received corticosteroids. Two patients were treated with methotrexate for myositis. Intravenous cyclophosphamide was used in five patients (at diagnosis for severe interstitial lung disease in three cases and after pulmonary function worsening in two other cases). Improvement was noted in seven patients. Two patients died after pulmonary symptom worsening and respiratory insufficiency. CONCLUSION: Interstitial lung disease in patients with antisynthetase syndrome may have a poor prognosis and should be treated at time. Altough the optimal therapy was not clearly established, corticosteroids are considered to be the first line therapy. Immunosuppressive agents as cyclophosphamide, azathioprine or methotrexate may be used in some cases.

Particularities of Sjögren Syndrome in elderly.

INTRODUCTION: Diagnosis of Sjögren syndrome (SS) can be difficult in the elderly in whom sicca syndrome can be related to senescence, comorbidities or to iatrogenesis. METHODS: We performed a retrospective study including of SS patients records (AECG criteria) in the internal medicine departement, La Rabta Hospital over 18 years. Epidemiological, clinical, biological and therapeutic features of elderly patients (EP) and young patients(YP) were compared Results: A total of 323 patients with SS were enrolled, 35 were over 65 years of age (33 females/2 males). The mean age at disease onset was 68.8±4.4 years. Comparative analysis showed that SS diagnosis was made earlier in elderly (p=0.02). Fatigue was more frequent in elderly (p<0.01). Positivity of anti-SSA was more frequent in YP (p=0.04). Anti-malarial agents were less prescribed in elderly (p=0.03). There was no significant differences concerning the other clinical features, laboratory findings, treatment and outcomes. CONCLUSION: The SS in elderly seems not to be a distinct subset of disease. However, treatment and follow-up of elderly patients with SS must obey to closer attention considering their vulnerability and the complexity of their management.

Erdheim-Chester disease: A multisystem disease case illustration with rare manifestations and treatment challenges.

Erdheim-Chester disease is a rare multisystemic disease. A 50-year-old woman, presented with a recurrent pain and swelling of the left knee. Bone scintigraphy showed increased tracer uptake of peripheral skeleton. The computed tomography showed tissular infiltration in the retroperitoneum, around the vessels. Immunohistochemistry showed CD68 (+) and CD1a (-).

Particularities of infectious complications in systemic lupus erythematosus.

AIM: To describe characteristics of systemic lupus erythematosus (SLE) patients with infectious complications and to determine frequency, clinical and microbiological features and outcomes of reported infections. METHODS: This is a descriptive, retrospective study conducted over an 11-year period at the Internal Medicine Department La Rabta Hospital Tunis, collecting medical records of SLE patients who had experienced infectious complications. RESULTS: Fifty-six patients were included, consisting of 52 females and 4 males (gender ratio M/F= 0.07). The mean age at SLE diagnosis was 35±13.8 years. The mean duration of the disease was 4.8±3.1 years. A total of seventy-eight infections were documented. Infection revealed the disease in 12 patients (21%) and occurred after an average delay of 36 months [1-156 months] of SLE diagnosis. Forty-three patients (74%) were receiving corticosteroid therapy, associated in 37.5% of cases with immunosuppressive treatment. Urinary and pleuro-pulmonary infections were most common infectious sites. An infectious agent was identified in 59 cases (76%). Bacterial infections were the most common (76%), dominated by the enterobacteria pathogen agent. Viral infections (n=12) were mainly caused by varicella-zoster virus and cytomegalovirus. Five patients required intensive care. Twenty patients experienced a lupus flare during the infectious episode. The outcome was favorable in 52 (93%) patients. Three patients died, two due to septic shock caused by pulmonary infection in two cases and cutaneous infection in one patient. One patient died from a probable pulmonary embolism. CONCLUSION: Infectious complications are responsible for significant morbidity and mortality during SLE. Hence the importance of early diagnosis and adequate management.

Esophageal motor abnormalities on high-resolution manometry in patients with scleroderma.

BACKGROUND: Systemic sclerosis (SS) is an autoimmune disorder that may result in diverse esophageal motor disorders. Typical manometric disorders include decreased lower esophageal sphincter (LES) pressure, absent contractility and ineffective peristalsis. AIMS: The aims of the study were to assess esophageal motor abnormalities in SS patients using high resolution manometry and to evaluate clinical and endoscopic features that are associated with manometric findings. METHODS: Patients with SS who underwent esophageal high-resolution manometry (HRM) between December 2016 and August 2020 were enrolled in the study. Data regarding demographics and symptom frequency were obtained through a questionnaire. Chicago classification criteria (V3.0.) were used for defining esophageal dysmotility. RESULTS: A total of 49 patients were enrolled in the study. Median age was 56 ±13.4 years. High-resolution manometry showed that absent contractility (n= 24; 49%) and ineffective motility (n=14; 28.6%) were the most frequent motor abnormalities. One case of esophageal gastric junction (EGJ) outflow obstruction was observed in a female patient. A hypotensive LES was observed in 18 patients (36.7%). Absent contractility was associated with regurgitations (=0.013), and erosive esophagitis (p=0.003). CONCLUSION: Absent contractility and ineffective motility were the most common esophageal contractile patterns among our patients. Patients with absent contractility experienced more frequently regurgitations and had more often erosive esophagitis.

Efficacy of low-dose oral sulodexide in the management of diabetic nephropathy.

BACKGROUND: Diabetic nephropathy (DN) is the single greatest cause of end-stage renal disease (ESRD). Without specific interventions, microalbuminuria (incipient nephropathy) gradually progresses to macroalbuminuria (overt nephropathy) within 10-15 years in about 80% of type 1 and 30% of type 2 diabetic patients, and to ESRD within further 20 years in about 75% and 20%, respectively. A primary alteration in DN consists of decreased concentration of glycosaminoglycans (GAGs) in the glomerular extracellular matrix. This evidence has prompted interest in using exogenous GAGs and specifically sulodexide in DN treatment. PATIENTS AND METHODS: In this uncontrolled multicenter study, diabetic patients with albumin excretion rate (AER) >or=30 mg/24 hours were treated with oral sulodexide 50 mg/day for 6 months, while receiving concomitant medication as required. Two hundred thirty-seven patients (54% males and 46% females, mean age 55 years, mean diabetes duration 11 years) were evaluated; 89% had type 2 and 11% type 1 diabetes mellitus, 67% microalbuminuria and 33% macroalbuminuria. RESULTS: AER was significantly and progressively reduced during sulodexide treatment (p<0.0001): geometric mean after 3 and 6 months was 63.7% (95% confidence interval [95% CI], 59.3%-68.4%) and 42.7% (95% CI, 37.8%-48.2%) of baseline, respectively. The reduction was similar in type 1 and type 2 diabetes and was slightly greater in macroalbuminuric than in microalbuminuric patients. Blood pressure was slightly lowered, while fasting glucose and glycosylated hemoglobin were moderately reduced. Adverse effects were observed in 5.5% of patients, including gastrointestinal in 3.8%. CONCLUSIONS: Sulodexide therapy was shown to reduce AER in patients with DN.

[Esophageal motility abnormalities in systemic sclerosis: frequency and predictive factors]. / Les troubles moteurs oesophagiens au cours de la sclerodermie systemique: frequence et facteurs predictifs.

BACKGROUND: Esophageal involvement is frequent during systemic sclerosis. It consists on esophageal motor abnormalities. Esophageal manometry is the gold standard for the diagnosis. AIM: To determine the frequency and the type of the esophageal motor abnormalities among patients presenting a systemic sclerosis; and to look for factors associated with a greater risk of theses disorders. METHODS: A retrospective study relating to all the esophageal manometries carried out among patients presenting a systemic sclerosis was undertaken. RESULTS: During a 12 years period, 128 cases were studied. Esophageal motor abnormalities were found among 97 patients (76%). Specific esophageal involvement was found among 52 patients (42%), and non specific motor abnormalities among 31 patients (24%). The only associated factor with a specific esophageal involvement is occurrence of dysphagia. CONCLUSION: Esophageal motor abnormalities are frequent in patients with systemic sclerosis. They can be specific and nonspecific. Esophageal manometry should be systematically performed among these patients, even in the absence of dysphagia.

Protracted superficial Wegener granulomatosis in a child.

Wegener granulomatosis is a rare, chronic, multisystemic vasculitis affecting mainly the upper and lower respiratory tracts together with glomerulonephritis, but the disease may involve any other organ. Protracted superficial form is a rare variant of the disease. We report a case of protracted superficial Wegener granulomatosis in a 16-year-old boy in whom the disease started with recurrent digital ulcers at age 7 years. Later, he developed nodules and papules associated with upper airway involvement and ocular keratitis without lung or renal involvement. C-ANCA was positive. The patient was treated with oral prednisone. Similar cutaneous and mucosal lesions developed during two relapses of the disease without renal or respiratory involvement.

[Cutaneous manifestations as the initial presentation of Wegener's granulomatosis]. / Atteintes cutanées révélatrices d'une granulomatose de Wegener.

INTRODUCTION: Wegener's granulomatosis is a rare systemic vasculitis, characterized by involvement of the upper airways, lungs and kidneys; other organs may also be affected. Cutaneous lesions occur frequently during the disease course but seldom as its initial presentation. Digital necrosis and splinter hemorrhages of fingernails are described, but very rarely. CASE: We report the case of a 55-year-old man presenting multisystemic Wegener's granulomatosis with mucosal and cutaneous involvement at initial presentation: tongue and labial ulcers, digital necrosis, splinter hemorrhages of fingernails, and purpura. The PR3-ANCA titer was high. Imaging and the histological findings of both cutaneous and renal biopsies suggest a diagnosis of Wegener's granulomatosis. He was treated with prednisone, cyclophosphamide, and cotrimoxazole. Cutaneous and mucosal symptoms disappeared 6 weeks after treatment began. DISCUSSION: The particularity of this case is the association of four separate cutaneous manifestations of Wegener's granulomatosis - two of them very rare - as the initial presentation of this multisystemic disease.

[Salivary gland biopsy : experience of La Rabta Hospital's pathology departement]. / Biopsie des glandes salivaires accessoires : experience du laboratoire d'anatomie pathologique de l'hopital la Rabta de tunis.

BACKGROUND: The minor salivary glands biopsy is a very common diagnostic procedure in oral medicine rather its efficiency has not been statistically proved. AIM: Assessment of Rabta pathologic department experience METHODS: 297 biopsies have been studied with special attention to the suspected diagnosis before biopsy and the final histologic result. RESULTS: The minor salivary gland biopsy confirmed the initial diagnosis in 78 cases. Although if the minor salivary gland biopsy is in most cases not contributively, it is a very simple procedure which gives the diagnosis of Gougerot-Sjogren disease, amylosis and sarcoidosis.

Does lowering hyperhomocysteinemia by folic acid beneficial for oculo-Behcet's disease? A pilot study.

OBJECTIVE: To determine the effect of folic acid supplementation in Behçet's disease (BD) patients with ocular involvement associated with hyperhomocysteinemia (Hhcys). PATIENTS AND METHODS: 19 BD patients, all with uveitis and/or retinal vasculitis associated with Hhcys (plasma hcy > 15 micromol/l) were prospectively included. Patients were divided into 2 groups. Group 1 consisted of 11 patients that received folic acide (15 mg/d) in addition to their previous standard treatment. Group 2 included 8 patients treated only with their previous standard treatment. Visual acuity and uveitis attacks were assessed initially and monthly at each visit in all groups. Mean Visual acuity and frequency of uveitis attacks were evaluated quarterly. RESULTS: In group 1, the mean plasma hcys level was significantly lower after than before the treatment period (27.7 vs 13.1 micromol/l; p= 0.04) while it did not vary significantly in the same period in Group 2 patients. Frequency of uveitis attacks was significantly lower after than before treatment at each quarter in groupl and mean visual acuity in this group increased from 4.33 to 5.44 decimals. During the treatment period, the mean number of uveitis attacks, converted to frequency per 12 months were significantly lower in group 1 than in group 2. During this period, the VA slightly increased in group 1 and decreased in group 2 but the difference was not significant. CONCLUSION: Our results indicate that folates supplementation is useful for BD patients with Hhcys.

[Ureteral stenosis in Wegener's granulomatosis. Case report]. / Sténose urétérale au cours de la granulomatose de Wegener. Une observation.

INTRODUCTION: Ureteral stenoses in Wegener's granulomatosis are rare. They usually involve the pelvic portion of the ureter and are caused by vasculitic lesions or granulomatous inflammation. CASE: A 38-year-old woman with Wegener's granulomatosis was treated with corticosteroids and monthly intravenous cyclophosphamide pulses. After 4 months, urinary retention developed, accompanied by lumbar pain, associated with protenuria and hematuria, and related to bilateral ureteral stenoses. Treatment by endoscopic dilatation and double J stents led to with clinical and radiological improvement, while the medical treatment continued. CONCLUSION: Hematuria in patients with Wegener's granulomatosis suggests renal involvement, but ureteral stenoses must also be considered when these patients present hematuria or urinary tract infections. Surgery should be reserved for those patients in whom medical treatment is not rapidly effective.

[Shulman syndrome. A report of 4 cases and review of the literature]. / Syndrome de Shulman. A propos de 4 cas avec revue de la litterature.

The goal of this study is to report four cases of Shulman syndrome with a literature review. Shulman syndrome is a rare disorder recently considered a systemic disease. Our first case shows woody induration of the buttock and trunk with features of morphea. The diagnosis of eosinophilic fasciitis, suspected on hypereosinophilia, was confirmed by histological findings of muscle biopsy. In the second and the third case, the induration affected arms and legs. Obiouvs streneous exercise was noted in the third patient. Those patients fullfiled the criteria of eosinopfilic fasciitis. Visceral involvement consisted on restrictive lung function defects on the second case and oesophageal hypokinesia in the third case. In the fourth case, there was a scleroderma-like on the extremitis with extension to abdomen. Erythrocyte sedimentation rate was normal. Histological findings confirm the diagnosis of eosinophilic fasciitis. All patients were treated with general steroids at high doses associated to cimetidine in the second patient. Once therapy ended, relapses occur in escond and third cases.

Central Retinal Vein Occlusion Revealing Coeliac Disease.

INTRODUCTION: Thrombosis has been widely reported in coeliac disease (CD) but central retinal vein occlusion (CRVO) is rarely described. CASE PRESENTATION: A 27-year-old woman presented with acute visual loss and was diagnosed with CRVO. Her protein S and protein C levels were low and CD was diagnosed on the basis of endoscopic, immunological and histological results. A gluten-free diet resulted in favourable evolution. CONCLUSION: CD should be considered in young patients with thrombosis, especially if in an unusual location. Treatment is based on a gluten-free diet. LEARNING POINTS: Coeliac disease (CD) should be considered in young patients with central retinal vein occlusion (CRVO).Several mechanisms can cause thrombosis in CD.CRVO in CD is often reversible with a gluten-free diet.