Giant cell arteritis with ocular involvement successfully treated with tocilizumab and very short-course glucocorticoids: A case report.

PURPOSE: To report the case of a patient with arteritic anterior ischemic optic neuropathy (AAION) with a history of glucocorticoids (GC) hypersensitivity treated with monthly intravenous tocilizumab (IV TCZ) and short course of GC. CASE REPORT: A 71-year-old Caucasian patient presented with AAION related to giant cell arteritis (GCA) confirmed by temporal artery biopsy. Past medical history was significant for GC hypersensitivity proven by allergy evaluation and the patient was managed with IV TCZ and very short-course GC. CONCLUSION: TCZ therapy with very short-course GC could be effective in GCA with ophthalmic involvement as a first-line strategy. Clinical trials are needed for thorough evaluation of the efficiency of TCZ as a first-line treatment to induce and maintain remission in patients with GCA and ocular involvement.

Vogt-Koyanagi-Harada disease: a retrospective and multicentric study of 41 patients.

BACKGROUND: East and South East Asian subjects as well as Amerindians and Hispanic subjects are predominantly affected by Vogt-Koyanagi-Harada disease. In Europe, only few studies have described the clinical features and treatment of this disease, especially in France. METHODS: This retrospective case series was based on data collected from patients with a VKH disease diagnosed from January 2000 to March 2017, provided by three French Tertiary Centers. RESULTS: Forty-one patients (16 men and 25 women) were diagnosed: average age at diagnosis was 38.7 years. Patients were mainly from Maghreb (58%), but ethnic origins were multiple. Pleiocytosis was observed in 19 cases (63%) and 17 out of 41 patients showed audio vestibular signs (41%), and 11 showed skin signs (27%). Thirty-four were treated with corticosteroids (83%), 11 with an immunosuppressant treatment (27%) and 5 with biological therapy drugs (13%). Relapse was observed in 41% patients, even though final average visual acuity had improved. We did not find any significant clinical difference in the population from Maghreb compared to other populations, but for age and sex trends, since there was a majority of younger women. CONCLUSION: We report here the second largest French cohort reported to date to our knowledge. The multiethnicity in our study suggests that VKH disease should be evoked whatever patients' ethnicity.

[Management of orbital inflammatory disorders in internal medicine: New findings resulting from a retrospective study of 31 consecutive patients]. / Prise en charge des orbitopathies inflammatoires en médecine interne : nouvelles données issues de l'étude d'une série de 31 patients consécutifs.

PURPOSE: To describe a case series of patients investigated in internal medicine for orbital inflammation (OI) since the individualization of the clinical entity of the IgG4-related orbital disease (IgG4 ROD). PATIENTS AND METHODS: Thirty four patients were consecutively referred by a specialized center where orbital biopsy was performed when the lesion was surgically accessible. Fourteen patients were excluded in case of missing data or lymphoma, periocular xanthogranuloma or Graves' orbitopathy. Patients with systemic or auto-immune disease according to the international criteria, or presenting with idiopathic orbital inflammation syndrome (IOIS), were included. Knowing the histological similarities between IOIS and IgG4 ROD, immunohistochemical assessment of plasma cells for IgG4 positivity was performed for every patient with available biopsy. Clinical and biological characteristics, treatment and response to treatment of included patients are reported. RESULTS: Among 22 included patients, 10 presented with orbital manifestation of a systemic or autoimmune disease including 2 sarcoidosis (9%) and 8 (36%) cases of non specific OI which were reclassified in IgG4 ROD. Finally, IOIS of various clinicopathological presentation was diagnosed for 12 patients including 10 with histological documentation. Whereas relapse and resistance were not found to be related to IgG4 positivity (50% in both IOIS and IgG4 ROD groups), another treatment in addition to corticosteroids was more often necessary in IgG4 ROD patients (50%) than in IOIS patients (25%). CONCLUSION: After ruling out auto-immune orbital diseases, especially IgG4 ROD, IOIS should be discussed. Factors conditioning the corticosteroid response are yet to be determined.

[Delays in the management of ocular complications of giant cell arteritis: A retrospective monocentric study of 33 patients]. / Délais de prise en charge des complications visuelles d'artérite à cellules géantes : étude rétrospective monocentrique de 33 patients.

INTRODUCTION: Ocular complications of giant cell arteritis (GCA) can lead to irreversible bilateral blindness and represent a therapeutic emergency. Recommendations for the management of GCA have recently been updated. The objective of the study was to evaluate delays in appropriate management of the ocular complications of GCA and its determinants. METHOD: Retrospective, monocentric study, conducted over the period January 2013-November 2018. All consecutive patients with a final diagnosis of GCA and related visual impairment (permanent visual loss and/or alteration of visual field) were included. RESULTS: Thirty-three patients were included (women: 21, men: 12; mean age at diagnosis: 79). Twenty-seven patients (82%) presented with symptoms suggestive of ACG prior to the visual complication, ranging from a few weeks to several months. Seventeen patients (52%) had a known biological inflammatory syndrome (median CRP at 64 mg/L) prior to hospital consultation. The median time from the onset of permanent ophthalmologic manifestations to appropriate corticosteroid management was 3 days (range: 0-134). Two of the 21 patients who consulted an out-of-hospital ophthalmologist received corticosteroid therapy before referral to hospital. Three patients (9%) were treated within 24 h of the onset of the disorders. CONCLUSION: There is a significant delay in the appropriate management of ophthalmological complications of ACG and deviations from current recommendations. Numerous actions must therefore be taken to improve the visual prognosis of patients with ACG, both preventively (i.e. early diagnosis and treatment of ACG before the possible occurrence of visual complications), and curatively (rapid recognition and immediate treatment of ocular complications). These elements support the relevance of specific fast-track pathways for GCA.

Increase in sexually transmitted infections in a cohort of outpatient HIV-positive men who have sex with men in the Parisian region.

OBJECTIVE: To describe the increased incidence of sexually transmitted infections (STIs) in a cohort of HIV-infected men who have sex with men (MSM), followed in a tertiary hospital of the Île-de-France region. MATERIALS AND METHODS: We performed a monocentric, retrospective, and prospective study. We included symptomatic HIV-infected MSM patients who consulted for their annual consultation. RESULTS: One hundred and eighty patients were seen between 2008-2011 and 215 between 2012-2015. We observed an increased incidence of STIs between the two periods (14 and 29.3%, respectively). These STIs includes: syphilis, hepatitis C, urethritis, and proctitis due to Chlamydia trachomatis and Neisseria gonorrhea. CONCLUSION: A better management of symptomatic and asymptomatic STIs is needed for HIV-infected MSM patients.

[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients]. / Transplantation combinée cœur­rein au cours de la maladie de Fabry : suivi à long terme de deux patients.

INTRODUCTION: Fabry disease is a lysosomal storage disorder linked to an alpha-galactosidase A deficiency that can lead to heart and kidney failure. There is little data about the prognosis of patients who undergo a combined heart and kidney transplantation. CASE REPORTS: Two brothers who were diagnosed with Fabry disease after the age of 30 years underwent a combined heart and kidney transplantation at respectively 49 and 42 years of age because of a severe hypertrophic cardiomyopathy with end stage renal failure. They are alive respectively 4 and 9 years after the transplantation. No recurrence of the disease in the transplanted organs has been found. CONCLUSION: Combined heart and kidney transplantation in Fabry disease is an efficient therapy for the cardiomyopathy and kidney failure. Its prognosis can be good when the patients are carefully selected. However, an early diagnosis is critical in order to avoid a procedure associated with a high perioperative mortality.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]. / Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes.

INTRODUCTION: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease type B, NP-B). METHODS: Retrospective multicentric analysis of French adult patients with ASMD over the period 1985-March 2015. Clinical, biological, and imaging data were analyzed. RESULTS: Twenty-eight patients (19 males, 9 females) were analyzed. Diagnosis was made before the age of 10 years in 16 cases. Main symptoms at diagnosis were spleen/liver enlargement and interstitial lung disease. Biological abnormalities included: thrombocytopenia (platelet count <150 000/mm3) in 24 cases including 4 patients with platelet count <60 000/mm3, constantly low high-density lipoprotein (HDL) cholesterol, polyclonal hypergammaglobulinemia (n=6), monoclonal gammopathy of unknown significance (n=5), normal prothrombin level discordant with low factor V (n=5), elevated chitotriosidase level (n=11). The diagnosis was confirmed in all cases by deficient acid sphingomyelinase enzyme activity. SMPD1 gene sequencing was performed in 25 cases. The frequent p.R610del mutation was largely predominant, constituting 62% of the non-related alleles. During the follow-up period, three patients died before 50 years of age from cirrhosis, heart failure and lung insufficiency, respectively. CONCLUSION: ASMD in adulthood (NP-B) associates spleen/liver enlargement and interstitial lung disease. Early diagnosis and appropriate management are essential for reducing the risk of complications, improving quality of life, and avoiding inappropriate procedures such as splenectomy. To date, only symptomatic therapy is available. A phase 2/3 therapeutic trial with IV infusion of recombinant enzyme is on-going.

[What's new in internal medicine?]. / Quoi de neuf en médecine interne?

Among diagnostic progress over the last three years in internal medicine, Antisynthetase Syndrome is now more easily recognised with the diffusion of laboratory tests for research of antibodies against tRNA synthetases (Anti JO1, anti PL7, Anti PL12). In two third of cases, these antibodies are found despite absence of antinuclear antibodies. Hence, we have to search them specifically in patients with polyarthritis associated with myositis, cutaneous manifestations (Raynaud phenomenom and "mechanic'hands") and interstitial lung disease. Discovery of asymptomatic mutation in the L ferritin coding sequence help us to better understand the "unexplained" hyperferritinemia. Initially described by japonese gastroenterologists, auto immune pancreatitis in fact a part of a systemic sclerosing disease with a biochemical hallmark: in crease of a subclass of immunoglobulins G (IgG4). A new pediatric disease due to a deficiency of the interleukin1 receptor antagonist (multifocal aseptic osteitis, periostitis, stomatitis, disseminated pustulosis) help us to better understand unexplained auto inflammatory diseases. The therapeutic progress is primarily due to an explosion of biological therapies, particularly four of them very useful for internists (in an off label use) : Interleukin 1 inhibitors (anakinra, Canakinumab) to treat some auto inflammatory diseases (cryopirin associated periodic syndromes and deficency of interleukin 1 receptor antagonist), monoclonal antibody against interleukin 5 (mepolizumab) to treat some hypereosinophilic syndromes and Churg and Strauss angiitis, interleukin 6 inhibitiors to treat multifocal Castleman's disease and adult Still disease, a monoclonal antibody against vascular endothelial growth factor (Bevacizumab) to treat hereditary hemorrhagic telangiectasia.

Scanning electron microscope examination of scale-like spines on the rostellumm of five Davaineinae (Cestoda, Cyclophyllidea).

The study by scanning electron microscope of the scolex of Cotugnia polyacantha, Raillietina (R.) echinobothrida, R (R.) tetragona, R. (R.) tunetensis and R. (Skrjabinia) cesticillus allowed us to demonstrate the presence, on the rostellum of each individual, of scale-like spines. We believe that these scale-like spines represent a new character of diagnosis for the whole of the Davaineidae.