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Hydatid disease or echinococcosis is a tapeworm infection that spreads by contact with animal contaminated faeces. Dogs, sheep, wolves and jackals are definitive hosts passing the eggs of these parasites in their faeces. Humans are accidental, intermediate hosts and become infected after ingesting

A 40-year-old Japanese woman developed malignant-phase hypertension complicated by thrombotic microangiopathy, progressing to end-stage renal disease. Five years later, she was diagnosed with pulmonary arterial hypertension and interstitial pneumonia. Despite a lack of overt skin sclerosis, nucleolar staining in our indirect immunofluorescence analysis and nailfold capillaroscopy facilitated the diagnosis of anti-PM/Scl antibody-positive systemic sclerosis. We observed the persistent presence of anti-PM/Scl antibodies throughout the clinical course, suggesting that her kidney disease was scleroderma renal crisis. Anti-PM/Scl antibodies can be associated with multiple organ diseases. Careful attention to a patient's antinuclear antibody pattern and dermatological findings may help clarify the etiology of undiagnosed diseases.

Graphical abstract, Highlights • Cardiac echinococcosis is a rare but potentially fatal manifestation of hydatid disease. • Antiparasitic agents with surgical cyst excision is the treatment of choice. • Heart team decision-based management is warranted in cases of other organ involvement.

Immunoglobulin G4-related disease (IgG4-RD) is an increasingly recognized syndrome which shares similar pathologic, serologic, and clinical features in the affected organs. Subacute development of a mass or diffuse enlargement of the organ is a common presenting feature. It is more commonly seen in middle-aged or older men. Lymphadenopathy is common in them. Tissue infiltration with lymphoplasmacytic collection, predominantly of IgG4-positive plasma cells, accompanied by “storiform” pattern of fibrosis, obliterative phlebitis, and increased tissue eosinophils are the hallmark histologic findings. Rapid response to systemic steroids is characteristic. If present, the typical cutaneous findings such as papulonodules or plaques in the head-and-neck region may serve as an initial clue to the underlying systemic involvement in IgG4-RD. Hence, dermatologists need to be aware of this entity for early recognition of underlying organ involvement and thus the prompt management.

Hypereosinophilic syndrome is a rare entity and heterogeneous group of disorders characterized by hypereosinophilia and organ involvement. In this study, we presented a 49-year-old woman with cardiac tamponade in the context of Hypereosinophilic syndrome. Identifying hypereosinophilia as the underlying cause can have tremendous clinical implications for rapid initiation of appropriate treatment to minimize further end organ damage.

Because of a similar organ involvement and histopathological features, IgG4-related disease (IgG4-RD) may mimic some forms of granulomatosis with polyangiitis (GPA). However, several cases of clear coexistence or overlap of both diseases have been reported. We describe a case of a 47-year-old man presenting with a renal mass and a nasal crusting showing histopathological features of IgG4-RD in both territories. Cytoplasmic/proteinase 3 (PR3) antineutrophil cytoplasmic antibodies (ANCA) were positive and the patient subsequently developed kidney failure and nephritic syndrome that led to a renal biopsy re-evaluation revealing changes compatible with segmental necrotising glomerulonephritis and GPA. Remission induction therapy with prednisone and rituximab was started and clinical and laboratory parameters returned to normal. After administering a maintenance regimen based in rituximab 500 mg every six month the patient remained asymptomatic during 4 years of follow-up and free of prednisone the last 18 months. Although coexistence or overlap of GPA and IgG4-RD may be established in some clinical scenarios, the possibility of widening the spectrum of a single disease is also postulated.

Angiotensin‐converting enzyme‐2 (ACE2) has been established as the functional host receptor for severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), the virus responsible for the current devastating worldwide pandemic of coronavirus disease 2019 (COVID‐19). ACE2 is abundantly expressed in a variety of cells residing in many different human organs. In human physiology, ACE2 is a pivotal counter‐regulatory enzyme to ACE by the breakdown of angiotensin II, the central player in the renin‐angiotensin‐aldosterone system (RAAS) and the main substrate of ACE2. Many factors have been associated with both altered ACE2 expression and COVID‐19 severity and progression, including age, sex, ethnicity, medication and several co‐morbidities, such as cardiovascular disease and metabolic syndrome. Although ACE2 is widely distributed in various human tissues and many of its determinants have been well recognised, ACE2‐expressing organs do not equally participate in COVID‐19 pathophysiology, implying that other mechanisms are involved in orchestrating cellular infection resulting in tissue damage. Reports of pathologic findings in tissue specimens of COVID‐19 patients are rapidly emerging and confirm the established role of ACE2 expression and activity in disease pathogenesis. Identifying pathologic changes caused by SARS‐CoV‐2 infection is crucially important as it has major implications for understanding COVID‐19 pathophysiology and the development of evidence‐based treatment strategies. Currently, many interventional strategies are being explored in ongoing clinical trials, encompassing many drug classes and strategies, including antiviral drugs, biological response modifiers and RAAS inhibitors. Ultimately, prevention is key to combat COVID‐19 and appropriate measures are being taken accordingly, including development of effective vaccines. In this review, we describe the role of ACE2 in COVID‐19 pathophysiology, including factors influencing ACE2 expression and activity in relation to COVID‐19 severity. In addition, we discuss the relevant pathological changes resulting from SARS‐CoV‐2 infection. Finally, we highlight a selection of potential treatment modalities for COVID‐19.

Angiotensin-converting enzyme 2 (ACE2) has been established as the functional host receptor for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for the current devastating worldwide pandemic of coronavirus disease 2019 (COVID-19). ACE2 is abundantly expressed in a variety of cells residing in many different human organs. In human physiology, ACE2 is a pivotal counter-regulatory enzyme to ACE by the breakdown of angiotensin II, the central player in the renin-angiotensin-aldosterone system (RAAS) and the main substrate of ACE2. Many factors have been associated with both altered ACE2 expression and COVID-19 severity and progression, including age, sex, ethnicity, medication, and several co-morbidities, such as cardiovascular disease and metabolic syndrome. Although ACE2 is widely distributed in various human tissues and many of its determinants have been well recognised, ACE2-expressing organs do not equally participate in COVID-19 pathophysiology, implying that other mechanisms are involved in orchestrating cellular infection resulting in tissue damage. Reports of pathologic findings in tissue specimens of COVID-19 patients are rapidly emerging and confirm the established role of ACE2 expression and activity in disease pathogenesis. Identifying pathologic changes caused by SARS-CoV-2 infection is crucially important as it has major implications for understanding COVID-19 pathophysiology and the development of evidence-based treatment strategies. Currently, many interventional strategies are being explored in ongoing clinical trials, encompassing many drug classes and strategies, including antiviral drugs, biological response modifiers, and RAAS inhibitors. Ultimately, prevention is key to combat COVID-19 and appropriate measures are being taken accordingly, including development of effective vaccines. In this review, we describe the role of ACE2 in COVID-19 pathophysiology, including factors influencing ACE2 expression and activity in relation to COVID-19 severity. In addition, we discuss the relevant pathological changes resulting from SARS-CoV-2 infection. Finally, we highlight a selection of potential treatment modalities for COVID-19. © 2020 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.

FDG PET/CT in an 18-year-old man with known familial hemophagocytic lymphohistiocytosis (HLH) type 2 demonstrated abnormally in the brain, liver, and lymph nodes. Pathology showed no sign of lymphoproliferative disease. The patient underwent the chemotherapy of HLH. Six months after chemotherapy, a follow-up FDG PET/CT did not show any abnormal 18F-FDG activity, suggesting a complete response. The present case shows FDG PET/CT might not only be useful in staging the familial HLH but also able to evaluate the therapy response.

Laser speckle contrast analysis (LASCA) is a non-contact technique able to quantify peripheral blood perfusion (PBP) over large skin areas. LASCA has been used to study hand PBP in several clinical conditions. These include systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) and LASCA showed that PBP was significantly lower in these conditions than in healthy subjects (HS). Moreover, it has been demonstrated that LASCA is a safe technique also able to monitor digital ulcer perfusion and their evolution in SSc patients, during systemic and local treatment. The use of LASCA, coupled with reactivity tests is commonplace in the field of microvascular function research. Post-occlusive hyperemia reactivity (POHR) and local thermal hyperemia, associated with laser techniques are reliable tests in the evaluation of perfusion in SSc patients. Other studies used laser speckled techniques, together with acetylcholine and sodium nitroprusside iontophoresis, as specific tests of endothelium function. In conclusion, LASCA is a safe, non-contact reliable instrument for the quantification of PBP at skin level and can also be associated with reactivity tests to monitor disease progression and response to treatment in different connective tissue diseases.

Granulomatosis with polyangiitis (GPA) and microscopic polyangiitis (MPA) are two major clinical entities recognized among ANCA-associated vasculitides. GPA and MPA differ in the presence or absence of granuloma, organ involvement, and risk of relapses. GPA is more often, but not exclusively

Sweet syndrome is rare in the pediatric population and usually responds well to treatment, resolving without sequelae. Marshall syndrome is a rare pediatric skin disease characterized by loss of elastic tissue (cutis laxa) secondary to acquired, localized neutrophilic dermatitis without any internal organ involvement. Only few cases of Marshall syndrome (acquired cutis laxa type II) have been reported. Systemic steroids and dapsone show excellent results in Sweet syndrome. Although there is no satisfactory treatment for cutis laxa, dapsone can be used in the acute phase for control of swelling.

A granulomatose com poliangiite (GPA), anteriormente chamada de granulomatose de Wegener, é uma vasculite necrotizante granulomatosa sistêmica, pauci-immune, que afeta predominantemente o trato respiratório superior, os pulmões e os rins. Os pacientes afetados por essa moléstia podem apresentar sintomas gerais e específicos do comprometimento respiratório alto ou pulmonar, renal, cutâneo ou de outros órgãos. O tratamento é realizado principalmente com drogas imunossupressoras e deve ser instituído o mais precocemente possível. Este relato descreve as características clínicas e laboratoriais e a evolução de paciente com GPA em acompanhamento ambulatorial.

Systemic amyloidosis can be hereditary or acquired. The autosomal dominant hereditary transthyretin amyloidosis and the acquired light-chain amyloidosis, the result of a plasma cell dyscrasia, are multisystem disorders with cardiovascular, autonomic and peripheral nerve involvement. There are numerous investigational modalities available to diagnose systemic amyloidosis and to assess the extent of organ involvement, but it is frequently misdiagnosed due to its heterogeneous clinical presentations and misleading investigation findings. An accurate and timely diagnosis of amyloid neuropathy can greatly impact on the outcomes for patients, especially as there will soon be new gene-silencing treatments for hereditary transthyretin amyloidosis.

Interstitial lung disease (ILD) associated with idiopathic inflammatory myopathy is a life-threatening organ involvement [1–4]. Particularly, anti-melanoma differentiation-associated gene 5 (MDA5) ...

To the Editor : We read with great interest the case report of Buglioni et al.,1 and report a similar one. [...]

The aim of this study is to evaluate the therapeutic effect of mesenchymal stem cells (MSCs) in a severe case of brain and multiple organ involvement in a patient with COVID-19. Here, a 51-year-old male patient with multi-organ involvement due to COVID-19 infection and developing cardiac arrest is presented. MSCs were transplanted to the patient four times systematically and once intrathecally. As a result, the application of MSCs has been found to have a healing effect on organs in this patient with severe COVID-19 infection. In addition, transplantation of MSCs both systematically and intrathecally is considered to be effective in the treatment of the central nervous system (Tab. 2, Fig. 2, Ref. 24). Keywords: mesenchymal stem cell, COVID-19, organ involvement.

A 55-year-old Japanese man was diagnosed with VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, which is a newly documented adult-onset autoinflammatory disease caused by somatic UBA1 mutations [1], after four years of symptoms. He had suffered from recurrent fever after the onset of systemic arthralgia, scleritis, periorbital/orbital inflammation, optic perineuritis (A, B, T1-weighted contrast-enhanced magnetic resonance imaging in C and D, arrow in D), and myelodysplastic syndrome.

Mixed connective tissue disease (MCTD) is a complex entity, which incorporates features of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), systemic sclerosis (SSc) and polymyositis/dermatomyositis (PM/DM). Nailfold videocapillaroscopy (NVC) is a simple, safe and non-invasive technique of capillary vessel assessment, allowing for qualitative and quantitative assessment of microcirculation. NVC plays a pivotal role in the diagnostic algorithm of connective tissue diseases, especially in systemic sclerosis (SSc). Numerous studies have shown a correlation between organ involvement and disease progression in SSc. In the current literature, there are limited data on relationship between NVC and organ involvement in MCTD patients. In the present article the relevant literature describing NVC examination in patients with MCTD and comparisons with some clinical situations are discussed.

Langerhans Cell Histiocytosis (LCH) is a rare proliferative disease of the mononuclear phagocyte system, characterised by tissue infiltration of CD1a+ CD207+ histiocytes. The clinical presentation is variable, ranging from unifocal asymptomatic bone involvement to life-threatening multisystem disease, requiring aggressive therapeutic approaches. Intraocular involvement is uncommon and associated to poor visual and general prognosis. Herein, we report a case of LCH in a newborn with ocular and multisystem risk organ involvement, unresponsive to several lines of chemotherapy. Off-label administration of vemurafenib led to dramatic improvement at systemic level; however, chronic sequelae of ocular involvement resulted in poor visual prognosis.

Systemic sclerosis (SSc) is a complex disease which consists of autoimmunity, fibrosis and vasculopathy. Most organ involvement in SSc patients is related to progressive fibrosis. Once fibrosis progresses, it becomes impossible to maintain a normal structure histologically. Therefore, treatment in cases with advanced fibrosis is quite difficult. On the other hand, the role of vasculopathy is clear in the pathogenesis of SSc. Lethal organ disorders of SSc, such as pulmonary arterial hypertension and scleroderma renal crisis, include severe signs of advanced vasculopathy. Nailfold videocapillaroscopy (NVC) is a safe and crucial method for evaluating microvasculopathy. The morphological changes and their progressions can be detected and scored by NVC. Indeed, the microvascular damage and dysfunction represent early markers of systemic sclerosis. Systemic sclerosis has clinical heterogeneity and the use of NVC has been validated to help with early diagnosis and even treatment. Finally, NVC may be useful in evaluating the pathogenesis of systemic sclerosis and its progression in connection with other early biomarkers and functional tools.

Miliary tuberculosis is a lethal form of disseminated tuberculosis (TB), deriving its name from the millet-seed-sized granulomas in multiple organs. As TB still remains a leading cause of morbidity and mortality in India, its disseminated forms need to be diagnosed early to ensure more aggressive treatment at the earliest possible time. However, a considerable number of cases are missed ante-mortem. We discuss the case of a 32-year-old immunocompromised, non-HIV patient with an ante-mortem diagnosis of pulmonary TB. However, multiple organ involvement by Mycobacterium tuberculosis was demonstrated on autopsy. This case highlights the role of autopsy as a research and learning tool, and prudential clinico-pathologic correlation, which will improve clinical outcomes in the future.

IgG4-related diseases represent a heterogeneous group of conditions characterised by elevated serum IgG4 levels and fibrotic or sclerosing changes in the affected organs or systems accompanied by IgG4-positive plasma cells. A disease associated with IgG4 may affect virtually any organ – salivary glands, periorbital tissue, kidneys, lungs, meninges, aorta, prostate, pericardium or skin. Histopathological findings are uniform, characterised by a major lymphoplasmocytic infiltrate and the presence of IgG4-producing plasma cells, irrespective of the affected site. It can be difficult to establish a correct diagnosis due to the lack of clinical symptoms. Treatment with immunosuppressive drugs provides good results and requires interdisciplinary cooperation.

Inflammatory idiopathic myopathies are a group of autoimmune diseases affecting predominantly the proximal skeletal muscles, with raised muscle enzymes, with or without skin involvement and extramuscular organ involvement. Autoantibodies help to characterize patients into different clinical phenotypes. Successful treatment necessitates controlling inflammation early with corticosteroids and invariably requires additional immunosuppressive therapy. This review focuses on the aetiology, pathogenesis, clinical presentation, investigations and management of patients presenting with inflammatory idiopathic myopathies, predominantly focusing on polymyositis and antisynthetase syndrome.

Nailfold capillaroscopy (NFC) is a simple, noninvasive, outpatient procedure that permits direct visualization of capillaries through the skin of terminal nailfold with the help of digital microscope. Autoimmune Rheumatic diseases (AIRDs) are associated with abnormalities of microcirculation (microangiopathy) that can be visualized with NFC. Among all AIRDs, systemic sclerosis (SSc) is known to have prominent microangiopathy that contributes to Raynaud's phenomenon, digital ulceration, and pulmonary hypertension in this disease. These microcirculation abnormalities are labeled “the scleroderma pattern”. They occur in a clearly defined sequence of “early”, “active”, and “late” pattern and correlate with internal organ involvement. Apart from SSc, microangiopathy can be seen in dermatomyositis and the scleroderma-spectrum disorders. NFC is invaluable in differentiating primary from secondary Raynaud's phenomenon. NFC despite being simple and noninvasive is underutilized in clinical practice.

Highlights • Patient with history of endometrial cancer presented with vaginal discharge. • Biopsy showed non-necrotizing granulomas, potentially sarcoidosis. • She responded to steroids with symptom resolution.

Objectives: In sarcoidosis, the definition of organ involvement with traditional means appears laborious and somewhat controversial, and phenotyping by the above overlapping. 18F-FDG PET/CT defines...

Contains fulltext : 208844.pdf (Publisher’s version ) (Open Access) This article presents a case of an HIV-infected paediatric patient with an unusual Mycobacterium genavense infection with predominantly abdominal organ involvement.

Background Reports of canine pyoderma gangrenosum (PG) are uncommon in the veterinary literature. Rarer still are cases describing dogs with both skin lesions and internal organ involvement. Objective To describe a case of canine PG with skin and internal organ involvement. Animals A client-owned dog. Methods and materials Complete blood count, serum chemistry, C-reactive protein and SNAP cPL tests, and abdominal ultrasonography and fine-needle aspiration of the spleen were performed. Results The dog was treated with oral prednisolone and ciclosporin. After three months of therapy, ultrasonography revealed normalization of the spleen and resolution of skin lesions. Conclusion and clinical importance Dogs with skin lesions compatible with PG should be screened carefully for internal organ involvement. Ciclosporin may be a useful treatment for the immediate and long-term management of canine PG.

Contains fulltext : 171578.pdf (Publisher’s version ) (Closed access) OBJECTIVE: LcSSc is associated with ACAs and a mild course, whereas dcSSc is associated with anti-topoisomerase antibodies (ATAs) and a more severe course. However, ATAs are also present in lcSSc. Little is known about survival and organ involvement in this subgroup. The aim of this study is to determine whether survival and organ involvement of lcSSc ATA-positive patients differs from lcSSc ATA-negative or dcSSc ATA-positive patients. Furthermore, transition from lcSSc to dcSSc was evaluated. METHODS: Data from The Nijmegen Systemic Sclerosis cohort were used, with up to 15 years of follow-up. Kaplan-Meier analysis was performed for survival and organ involvement, including interstitial lung disease, pulmonary arterial hypertension, cardiac involvement and Scleroderma Renal Crises. Cox proportional hazard modelling was performed to adjust for confounders. RESULTS: A total of 460 patients were included: 58 (13%) lcSSc ATA-positive patients, 237 (52%) lcSSc ATA-negative patients and 78 (17%) dcSSc ATA-positive patients. Cumulative survival in lcSSc ATA-positive patients was 75%, in lcSSc ATA-negative patients 58% and in dcSSc ATA-positive patients 53%. Interstitial lung disease was more prevalent in lcSSc ATA-positive patients (49%) than in lcSSc ATA-negative patients (25%), but less than in dcSSc ATA-positive patients (60%). Forty-eight patients developed dcSSc: 24 ATA-negative and 24 ATA-positive (P < 0.001). CONCLUSION: LcSSc ATA-positive patients differ from lcSSc ATA-negative patients and dcSSc ATA-positive patients concerning survival and organ involvement. LcSSc patients who are ATA-positive are more likely to develop dcSSc than lcSSc patients who are ATA negative.

Capillaroscopy is a non-invasive, easy and safe diagnostic technique designed to evaluate small vessels of the microcirculation in the nailfold. It can reveal both the general architecture of capillary rows and fine details of particular vessels. The most important indications for performing capillaroscopy include differential diagnosis of primary and secondary Raynaud’s phenomenon, as well as assessment of scleroderma spectrum disorders. In systemic sclerosis capillary abnormalities appear and evolve in a clearly defined sequence called the scleroderma pattern, which correlates with internal organ involvement. Capillaroscopy is also listed as a systemic sclerosis classification criterion recognized by the European League Against Rheumatism (EULAR). With digitized equipment, capillaroscopy allows for precise qualitative and quantitative evaluation of the microcirculation and is a valuable tool in the rheumatologists’ daily practice.

Multiple endocrine neoplasia (MEN) syndrome is a familial cancer syndrome characterized by neuroendocrine tumors. The syndrome encompasses four major subtypes: MEN1, MEN2A, MEN2B, and MEN4. MEN1 is caused by mutations in the MEN1 gene, MEN2A and MEN2B are caused by mutations in RET, and MEN4 is caused by mutations in CDKNB1. All are inherited in an autosomal dominant pattern, but de novo cases do arise. While all subtypes are associated with neuroendocrine tumors, each has characteristic organ involvement. Identifying patients with the syndrome can aid in proper screening and treatment.

Systemic scleroderma (systemic sclerosis) is a rare, autoimmune, collagen-vascular disease of unknown etiology that affects the connective tissues of the skin, internal organs, as well as the small blood vessels. There are 3 subclasses of systemic scleroderma: limited cutaneous, diffuse cutaneous, and sine scleroderma. Prognosis depends on the extent of organ involvement. Complications of systemic scleroderma can involve the cardiovascular, pulmonary, gastrointestinal, renal, integumentary, and the skeletal-muscular systems. Because systemic scleroderma is not common, many orthopaedic nurses may be unfamiliar with how to best provide care. This article provides information about the complexity of the different types of this disease and the basic nursing care of the patient with the most common subclass of systemic scleroderma, limited cutaneous systemic scleroderma.

Hydatid disease is a serious medical problem in Mediterranean and particularly among sheep farming countries, caused by larval stages of dog tapeworms belonging to the genus Echinococcus . Hydatid cysts may affect every organ in the human body; however, multiple organ involvement (spleen, adrenal gland, heart, pericardium, intravascular growth of hydatids and brain) without affecting the two major filters in the body liver and the lung was very rare. In this case, myocardial hydatid cyst is considered as primary and involvement of other organs such as brain, spleen, adrenal glands, and vascular involvement are considered as secondary involvement due to the rupture of hydatid in heart. Rarity of this atypical presentation of hydatid disease leads to this case report.

Intravascular large B cell lymphoma (IVBCL) is a rare subtype of extranodal large B-cell lymphoma with a distinct presentation. Anatomically the disease is characterized by the proliferation of clonal lymphocytes within small vessels with relative sparing of the surrounding tissue. The clinical symptoms of the disease are dependent on the specific organ involvement, which often includes the central nervous system and skin. Because of the various modes of presentation and the rarity of IVBCL, the diagnosis is challenging and made post-mortem in most cases. The tumor is often disseminated at the time of diagnosis and prognosis is poor, even with aggressive chemotherapy. The spectrum of neurological presentations of IVBCL can be heterogeneous. We report a case of intravascular lymphoma diagnosed on autopsy.

Lymphatic anomalies, including lymphatic malformations and lymphangiomatosis, result from the lymphatic system and have been classified by ISSVA, as described in Chap. 2 of this textbook. When functioning properly, the lymphatic system maintains fluid balance, produces lymphocytes which provide important defense against pathogens, and is crucial to the absorption of fats and fat-soluble vitamins (A, D, E, and K) from the small intestine into the bloodstream. Lymphatic channels develop early in gestation, and abnormalities of the lymphatic system often are present at the time of birth (Faul et al, Am J Respir Crit Care Med 161(3 Pt 1):1037–1046, 2000). The age of onset of clinical symptoms of a lymphatic anomaly varies widely, with some being identified on prenatal ultrasonography, and others occurring late in adulthood, depending on the type. The age of onset, degree of organ involvement, clinical course, and treatment options vary depending on the type.

Nonnecrotizing granulomas in the affected organ are the hallmark of sarcoidosis. This review summarizes most recent genetic findings in sarcoidosis with a focus on genes that might influence granuloma formation or resolution. Specific results in multiple ethnic groups and certain clinical subphenotypes, such as extra-pulmonary organ involvement, are discussed.Associations of genetic variants in antigen-presenting molecules (HLA-DRB1) were shown to confer risk to sarcoidosis and certain disease phenotypes in populations of different ethnic origins. Specific DRB1 alleles, such as *0301 and *0302, appear to confer protection against chronic disease, but in an ethnic-specific manner illustrating the extensive genetic heterogeneity and complexity at this locus. Mechanistic studies of putative sarcoid antigens lend further credence to a role of HLA-DRB1 in disease pathogenesis. With relevance to granuloma formation, genes involved in apoptotic processes and immune cell activation were further confirmed (ANXA11 and BTNL2) in multiple ethnicities; others were newly identified (XAF1). Linking mechanism to clinical application, a TNF variant was shown to correlate with anti-TNF response in sarcoidosis patients.The investigation of known and novel risk variants for sarcoidosis and specific clinical phenotypes in various ethnicities highlights the genetic complexity of the disease. Detailed subanalysis of disease phenotypes revealed the potential for prediction of extra-pulmonary organ involvement and therapy response based on the patient's genotype.

Hypereosinophilic syndrome (HES) encompasses numerous diverse conditions resulting in peripheral hypereosinophilia that cannot be explained by hypersensitivity, infection, or atopy and that is not associated with known systemic diseases with specific organ involvement. HES is often attributed to neoplastic or reactive causes, such as chronic eosinophilic leukemia, although a majority of cases remains unexplained and are considered idiopathic. Here, we review the current diagnosis and management of HES and present a unique case of profound hypereosinophilia associated with warm autoimmune hemolytic anemia requiring intensive management. This case clearly illustrates the limitations of current knowledge with respect to hypereosinophilia syndrome as well as the challenges associated with its classification and management.

Objective In this study it is aimed to contribute in determination of geographic distribution of Hydatid Cysts in Turkey and to emphasize the clinic chaos of Hydatid Cysts cases found in various localizations, by indicating the prevalence of Hydatid Cysts in our region. Methods It is evaluated that the cases diagnosed as Hydatid Cysts in Ataturk University Medical Faculty Pathology Depatment/Erzurum laboratories between 2003-2013; in terms of their age, gender, organ involvement and histopathologic detail. Results In our study, 459 Hydatid Cysts cases are defined. The most common localizations of cases are determined as liver (n:280, 61%) and lung (n:86, 18,7%). Those are followed by the kidney (n:12, 2,6%), brain (n:12, 2,6%) and spleen (n:9, 2.3%). Multi-organ involvement is observed in 31 cases (6.7%), in 10 (2.2%) cases co-occurence of liver and lung is determined. Unusual organ involvement is observed in 64 cases (13.9%) while the liver and lung is not involved. Conclusion Hydatid Cysts is an important health issue which is endemically seen in our region. It can be observed in various localizations of human body, other than the liver and lung. Those various localizations lie behind the serious diagnostic problems in endemic regions.

Autologous hematopoietic stem cell transplant (HSCT) for rapidly progressive disease has not been reported in localized scleroderma. Our patient, a 16-year-old girl had an aggressive variant of localized scleroderma, mixed subtype (linear-generalized) with Parry Romberg syndrome, with no internal organ involvement, that was unresponsive to immunosuppressive therapy and was causing rapid disfigurement. She was administered autologous HSCT in June 2011 and has maintained drug-free remission with excellent functional status at almost 3.5 years of follow-up.

Churg–Strauss syndrome is a necrotizing vasculitis of small vessels characterized by upper and lower airway disease followed by peripheral eosinophilia and multiple organ involvement. Herein we present the case of a 45-year-old female patient with Churg–Strauss syndrome and myopericardial disease who improved upon cyclophosphamide treatment. Apart from discussing the characteristics of myopericardial disease in eosinophilic syndromes, we highlight the crucial role of cardiac imaging in the prompt recognition and management of such patients.

Diffuse alveolar hemorrhage (DAH) is a rare but devastating complication of systemic lupus erythematosus (SLE) with a high early mortality rate. DAH seldom occurs without active organ involvement. Recently, rituximab (RTX), a B cell-targeted therapy, has been reported to be effective for life-threatening autoimmune diseases. We describe a SLE patient who presented with acute respiratory failure due to DAH without other active organ involvement. This condition was dramatically improved with RTX without cyclophosphamide.