Generalized sarcoidosis and severe thrombocytopenic purpura: clinical observation and literature review

Sarcoidosis is a disease of an unknown etiology and is characterized by a wide range of clinical manifestations due to granulomatous damage of the lungs and other organs. Hematologic disorders in sarcoidosis are represented by different variants of pancytopenia, while autoimmune thrombocytopenic purpura is rare. Hemorrhagic syndrome with critical thrombocytopenia in blood of a patient with systemic sarcoidosis (damage to the lungs, nervous system, skin) coincided with an episode of a viral infection with symptoms of COVID-19 and the detection of an increased titer of antibodies to SARS-CoV-2 in the blood. In our paper we described the clinical features of the disease, medical treatment. The issues of managing patients with sarcoidosis during a pandemic time are discussed.

Download Full-text

Clinical experience of observation and tactics of management of a patient with ectodermal angydrotic dysplasia

Russian Journal of Skin and Venereal Diseases ◽

10.17816/dv64274 ◽

2021 ◽

Vol 24 (2) ◽

pp. 179-186

Author(s):

Elena Y. Startseva ◽

Olga V. Bobrova ◽

Olga I. Letyaeva ◽

Oleg R. Ziganshin ◽

Ksenia K. Zakomoldina

Keyword(s):

Nervous System ◽

Autosomal Recessive ◽

Clinical Observation ◽

Autosomal Dominant ◽

Clinical Manifestations ◽

Ectodermal Dysplasias ◽

Wide Range ◽

Epidermal Growth ◽

Mode Of Inheritance ◽

Autosomal Recessive Manner

The concept of ectodermal dysplasias covers a group of rare hereditary developmental anomalies that have a variety of phenotypic variants, but are characterized by common signs of underdevelopment or abnormal formation of organs and tissues derived from the ectodermal layer (skin and its derivatives - nails, hair, teeth, nervous system and sensory organs) ... Approximately 25% of ectodermal dysplasias known to date are inherited in an autosomal dominant or autosomal recessive manner; in other cases, the mode of inheritance is unclear. The syndrome is characterized by a wide range of clinical manifestations and may include additional symptoms of damage to other ectodermal, mesodermal, and endodermal structures. Ectodermal anomalies are a manifestation of disturbances in spatial-temporal coordination during the development of the epidermis. They involve genes such as EGF (epidermal growth factor), ED1 (ectodisplasin), EDAR (anhydrotic receptor ectodysplasin 1) and others that regulate the activity of genes involved in epidermal morphogenesis by activating or suppressing transcription factors (in particular, pb3; Koster). So far, only about 20% of genes have been identified that are responsible for about 200 ectodermal dysplasias of various symptoms and severity. This article describes the clinical observation of a patient with a rare disease - ectodermal anhydrotic dysplasia. The literature data on the clinical features of the course of this dermatosis, as well as the features of the course in this patient are presented.

Download Full-text

DIAGNOSTIC VALUE OF SPECIFIC ANTIBODY SYNTHESIS IN BRAIN OF PATIENTS WITH NEUROINFECTIONS

Wiadomości Lekarskie ◽

10.36740/wlek201908103 ◽

2019 ◽

Vol 72 (8) ◽

pp. 1437-1441

Author(s):

Pavel Dyachenko ◽

Igor Filchakov ◽

Anatoly Dyachenko ◽

Victoria Kurhanskaya

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Clinical Manifestations ◽

Diagnostic Value ◽

Diagnostic Challenge ◽

Specific Antibodies ◽

Intrathecal Synthesis ◽

Varicella Zoster ◽

Mrz Reaction ◽

Wide Range

Introduction: Viral encephalitis accounts for 40-70% of all cases worldwide, central nervous system infections pose a diagnostic challenge because clinical manifestations are not typically pathognomonic for specific pathogens, and a wide range of agents can be causative. The aim: To assess the diagnostic value of intrathecal synthesis of specific antibodies in patients with inflammatory lesions of the central nervous system. Materials and methods: Within the framework of the study, two groups of 90 people in each were formed from the patients with neuroinfections admitted to our Center. Intrathecal synthesis (ITS) of total (unspecific) IgG in members of one of group (group of compare) was determined. Brain synthesis of specific antibodies (Ab) to some neurotropic pathogens (herpes simplex virus 1/2, cytomegalovirus, Epstein-Barr virus, varicella zoster virus, rubella virus, Borrelies) was studied in the second group of patients (group of interest). There were no statistically significant differences between groups by gender and age. Encephalitis and encephalomyelitis prevailed among patients of both groups Results: ITS of total IgG was established in 30 (33.3 ± 6.1 %) patients of the first group with IgG index more than 0.6 indicating on inflammatory process in CNS and no marked changes of CSF. ITS of specific Ab was determined in 23 of 90 (25.6 ± 4.6 %) patients included into group of interest. In more than half of cases Ab to several infectious agents were detected simultaneously. ITS of various specificity, in particular, to measles and rubella viruses, and VZV, known as MRZ-reaction, is characteristic of some autoimmune lesions of CNS, multiple sclerosis first of all. In fact, further research of 5 patients with MRZ-reaction confirmed their autoimmune failure of CNS. Detection of ITS in the CSF samples didn’t depend on concentration of specific Ab in serum and CSF and wasn’t followed by HEB dysfunctions which were observed with the same frequency in patients with or without ITS (13.0 % and 13.6 % respectively). Conclusion: Specific Ab synthesis to several neurotropic pathogens in the CSF of significant part of examined patients was established. Thus, diagnostic value of ITS of specific immunoglobulins seems to be limited to cases in which autoimmune damage of the CNS is suspected.

Download Full-text

Quantification of platelet-bound IgG by 125I-Staphylococcal protein A in immune thrombocytopenic purpura and other thrombocytopenic disorders

Blood ◽

10.1182/blood.v63.1.154.154 ◽

1984 ◽

Vol 63 (1) ◽

pp. 154-161 ◽

Cited By ~ 16

Author(s):

GM Shaw ◽

J Axelson ◽

JG Maglott ◽

AF LoBuglio

Keyword(s):

Immune Thrombocytopenic Purpura ◽

Protein A ◽

Normal Subjects ◽

Unknown Etiology ◽

Staphylococcal Protein A ◽

Thrombocytopenic Purpura ◽

Clinical Criteria ◽

Staphylococcal Protein ◽

Wide Range ◽

Immune Hemolytic Anemia

Abstract In this report we describe the use of an 125I-Staphylococcal protein A (SPA) assay to measure platelet-bound IgG in the evaluation of 62 thrombocytopenic patients. Platelets from 150 normal subjects were found to bind 146 +/- 112 molecules of SPA per platelet (mean +/- 2 SD). Nineteen of 20 patients with untreated immune thrombocytopenia had platelet IgG values above this range, with 15 of 20 having values above 1,000 molecules of SPA per platelet. Patients with immune thrombocytopenic purpura by clinical criteria, but who had failed conventional therapy (corticosteroids or splenectomy), had a wide range of platelet IgG levels: 4 of 20 had normal values, 6 of 20 had minimally elevated levels in the range seen with nonimmune thrombocytopenia, and 10 of 20 had much higher values. Fifteen patients with thrombocytopenia of apparent nonimmune origin and 7 others with chronic stable thrombocytopenia of unknown etiology were found to have platelet IgG levels within or only slightly above the normal range. Because of its simplicity, accuracy, and clinical correlation, the 125I- SPA assay provides an important new approach for studying platelet IgG in thrombocytopenic states. The data obtained with this technique are similar to those found in immune hemolytic anemia and suggest that the platelet-bound IgG so measured has pathophysiologic relevance in immune thrombocytopenic purpura.

Download Full-text

Hepatic involvement in sarcoidosis

Terapevticheskii arkhiv ◽

10.26442/00403660.2019.04.000179 ◽

2019 ◽

Vol 91 (4) ◽

pp. 4-12

Author(s):

V V Fomin ◽

M Yu Brovko ◽

M V Kalashnikov ◽

V I Sholomova ◽

T P Rozina ◽

...

Keyword(s):

Clinical Manifestations ◽

Normal Liver ◽

Liver Function Tests ◽

Pathological Process ◽

Unknown Etiology ◽

Primary Biliary Cholangitis ◽

Treatment Protocols ◽

Hepatic Involvement ◽

Wide Range ◽

Hepatic Sarcoidosis

Sarcoidosis is a multisystem granulomatous disease of unknown etiology. Liver is frequently involved in the pathological process. Wide range of clinical manifestations can be seen: from asymptomatic lesion with normal liver function tests to cirrhosis with portal hypertension. Biopsy plays the key role in diagnosis of the hepatic sarcoidosis. It is essential for morphological diagnosis to exclude other causes of granulomatous liver disease, most often - primary biliary cholangitis. Nowadays there are no standard treatment protocols for patients with hepatic sarcoidosis.

Download Full-text

NEUROPSYCHIC POLYMORPHISM OF JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS

Clinical Medicine and Pharmacology ◽

10.12737/2409-3750-2021-7-3-28-34 ◽

2021 ◽

Vol 7 (3) ◽

pp. 28-34

Author(s):

Yu. Minakova ◽

M. Silenko ◽

O. Ivanova

Keyword(s):

Systemic Lupus Erythematosus ◽

Nervous System ◽

Lupus Erythematosus ◽

Neuropsychiatric Symptoms ◽

Clinical Manifestations ◽

Pathogenetic Mechanism ◽

Systemic Lupus ◽

Juvenile Systemic Lupus Erythematosus ◽

Wide Range ◽

Prognostic Criterion

Damage to the nervous system (neurolupus) is one of the most common clinical manifestations of systemic lupus erythematosus (SLE) in childhood, and is also considered as an unfavorable prognostic criterion for the course of this disease. Neurolupus is characterized by a wide range of clinical manifestations in both children and adult patients, which is due in most cases to a common pathogenetic mechanism - the formation of systemic microvasculitis. The non-specificity and variability of neuropsychiatric symptoms, which may appear already at the onset of the disease, significantly complicate the early diagnosis of SLE and necessitate a close acquaintance of the pediatrician with neurolupus polymorphism in children.

Download Full-text

Modulation of gut microbiota through nutritional interventions in Behçet's syndrome patients (the MAMBA study): study protocol for a randomized controlled trial

10.21203/rs.2.19500/v1 ◽

2019 ◽

Author(s):

Giuditta PAGLIAI ◽

Monica DINU ◽

Claudia FIORILLO ◽

Matteo BECATTI ◽

Silvia TURRONI ◽

...

Keyword(s):

Gut Microbiota ◽

Mediterranean Diet ◽

Clinical Manifestations ◽

Unknown Etiology ◽

Processed Meat ◽

Behçet’S Syndrome ◽

Behçet's Syndrome ◽

Wide Range ◽

Behcet’S Syndrome ◽

Behcet's Syndrome

Abstract Background Behçet's syndrome (BS) is a systemic inflammatory disorder of unknown etiology, characterized by a wide range of potential clinical manifestations. Recent evidences suggest that the gut microbiota (GM) in BS shows low biodiversity with a significant depletion in butyrate producers. The aim of the present project is to investigate whether a dietary intervention could ameliorate the clinical manifestations and modulate the GM of patients with BS.Methods This is a randomized, open, cross-over study involving 90 BS patients who will be randomized to follow a 3-months dietary profile with either: lacto-ovo-vegetarian diet (VD), Mediterranean diet (MD) or Mediterranean diet supplemented with butyrate (MD-Bt). The VD will contain inulin and resistant starch-rich foods, eggs and dairy, in addition to plant-based food, but will not contain meat, poultry or fish. The MD will contain all food categories and will provide 2 portions per week of fish and 3 portions per week of fresh and processed meat. The MD-Bt will be similar to the MD but supplemented with 1.8 g/day of oral butyrate. The three different dietary patterns will be isocaloric and related to subject’s nutritional requirements. Anthropometric measurements, body composition, blood and fecal samples will be obtained from each participant at the beginning and at the end of each intervention phase. The primary outcomes will be represented by the change from baseline of the BS gastrointestinal and systemic symptoms. Changes from baseline of GM composition, SCFA production, inflammatory and antioxidant profile will be considered as secondary outcomes.Discussion BS is a rare disease, and, actually, not all the available treatments are target therapies. A supportive treatment based on dietary and lifestyle issues, able to restore immune system homeostasis, could have a high impact on costs sustainability for the treatment of such a chronic and disabling inflammatory condition.

Download Full-text

Modern aspects of neuropathogenesis and neurological manifestations of COVID-19

INTERNATIONAL NEUROLOGICAL JOURNAL ◽

10.22141/2224-0713.17.2.2021.229887 ◽

2021 ◽

Vol 17 (2) ◽

pp. 6-15

Author(s):

L.A. Dziak ◽

O.S. Tsurkalenko ◽

K.V. Chekha ◽

V.M. Suk

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Psychiatric Symptoms ◽

Clinical Manifestations ◽

The Body ◽

Altered Level ◽

Wide Range ◽

The Central Nervous System ◽

The Brain

Coronavirus infection is a systemic pathology resulting in impairment of the nervous system. The involvement of the central nervous system in COVID-19 is diverse by clinical manifestations and main mechanisms. The mechanisms of interrelations between SARS-CoV-2 and the nervous system include a direct virus-induced lesion of the central nervous system, inflammatory-mediated impairment, thrombus burden, and impairment caused by hypoxia and homeostasis. Due to the multi-factor mechanisms (viral, immune, hypoxic, hypercoagulation), the SARS-CoV-2 infection can cause a wide range of neurological disorders involving both the central and peripheral nervous system and end organs. Dizziness, headache, altered level of consciousness, acute cerebrovascular diseases, hypogeusia, hyposmia, peripheral neuropathies, sleep disorders, delirium, neuralgia, myalgia are the most common signs. The structural and functional changes in various organs and systems and many neurological symptoms are determined to persist after COVID-19. Regardless of the numerous clinical reports about the neurological and psychiatric symptoms of COVID-19 as before it is difficult to determine if they are associated with the direct or indirect impact of viral infection or they are secondary to hypoxia, sepsis, cytokine reaction, and multiple organ failure. Penetrated the brain, COVID-19 can impact the other organs and systems and the body in general. Given the mechanisms of impairment, the survivors after COVID-19 with the infection penetrated the brain are more susceptible to more serious diseases such as Parkinson’s disease, cognitive decline, multiple sclerosis, and other autoimmune diseases. Given the multi-factor pathogenesis of COVID-19 resulting in long-term persistence of the clinical symptoms due to impaired neuroplasticity and neurogenesis followed by cholinergic deficiency, the usage of Neuroxon® 1000 mg a day with twice-day dosing for 30 days. Also, a long-term follow-up and control over the COVID-19 patients are recommended for the prophylaxis, timely determination, and correction of long-term complications.

Download Full-text

A Case of Subcutaneous Sarcoidosis Occurring along the Superficial Veins of the Forearms: A Distinctive Cutaneous Manifestation Masquerading Venous Tropic Action in the Underlying Systemic Disease

Case Reports in Dermatology ◽

10.1159/000469656 ◽

2017 ◽

Vol 9 (1) ◽

pp. 108-113 ◽

Cited By ~ 1

Author(s):

Haruka Koizumi ◽

Noritaka Oyama ◽

Yukinori Hayakawa ◽

Minoru Hasegawa

Keyword(s):

Clinical Presentation ◽

Systemic Disease ◽

Clinical Manifestations ◽

Skin Lesions ◽

Underlying Disease ◽

Unknown Etiology ◽

Multisystem Disease ◽

Old Japanese ◽

Skin Nodules ◽

Systemic Sarcoidosis

Sarcoidosis is a multisystem disease of unknown etiology, developing granulomas in any tissues and organs. Approximately 25% of sarcoidosis patients have cutaneous involvement with various clinical manifestations, which are categorized into specific or nonspecific diseases based on the histopathology; the former represents the typical sarcoid granulomas. Subcutaneous sarcoidosis is one of the specific skin lesions and often affects extremities, to a much lesser extent with other anatomical sites. Herein, we report the case of an 82-year-old Japanese man with subcutaneous sarcoidosis whose skin nodules exclusively overlay the lines of superficial veins on the forearms. This rare clinical presentation was discussed with the literature reported thus far to access the underlying disease pathophysiology from the viewpoint of tropic response to the venous system in systemic sarcoidosis.

Download Full-text

Keratosis Lichenoides Chronica – a Case Report and Literature Review

Serbian Journal of Dermatology and Venerology ◽

10.2478/sjdv-2014-0011 ◽

2014 ◽

Vol 6 (3) ◽

pp. 120-137

Author(s):

Mirjana Paravina ◽

Predrag Cvetanović ◽

Miloš Kostov ◽

Slađana Živković ◽

Ivana Dimovski ◽

...

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Literature Review ◽

Rare Disease ◽

Clinical Picture ◽

Treatment Options ◽

Clinical Manifestations ◽

Poor Response ◽

Unknown Etiology ◽

Distinct Entity

Abstract Keratosis lichenoides chronica represents a distinct entity, a rare disease of unknown etiology and pathogenesis, with clinical manifestations which, although typical, require extensive differential diagnosis. The course of the disease is chronic, progressive, and it is resistant to various treatment options, so despite variations in the clinical picture it is really easier to diagnose than to treat. This is a case report of a male patient in whom the diagnosis of keratosis lichenoides chronica was based on typical clinical picture, repeated biopsies and histopathological findings, course of the disease and poor response to any therapy.

Download Full-text

Modulation of gut microbiota through nutritional interventions in Behçet's syndrome patients (the MAMBA study): study protocol for a randomized controlled trial

10.21203/rs.2.19500/v2 ◽

2020 ◽

Author(s):

Giuditta PAGLIAI ◽

Monica DINU ◽

Claudia FIORILLO ◽

Matteo BECATTI ◽

Silvia TURRONI ◽

...

Keyword(s):

Gut Microbiota ◽

Mediterranean Diet ◽

Clinical Manifestations ◽

Unknown Etiology ◽

Processed Meat ◽

Behçet’S Syndrome ◽

Behçet's Syndrome ◽

Wide Range ◽

Behcet’S Syndrome ◽

Behcet's Syndrome

Abstract Background: Behçet's syndrome (BS) is a systemic inflammatory disorder of unknown etiology, characterized by a wide range of potential clinical manifestations. Recent evidences suggest that the gut microbiota (GM) in BS shows low biodiversity with a significant depletion in butyrate producers. The aim of the present project is to investigate whether a dietary intervention could ameliorate the clinical manifestations and modulate the GM of individuals with BS. Methods: This is a randomized, open, cross-over study involving 90 BS individuals who will be randomized to follow a 3-months dietary profile with either: lacto-ovo-vegetarian diet (VD), Mediterranean diet (MD) or Mediterranean diet supplemented with butyrate (MD-Bt). The VD will contain inulin and resistant starch-rich foods, eggs and dairy, in addition to plant-based food, but will not contain meat, poultry or fish. The MD will contain all food categories and will provide 2 portions per week of fish and 3 portions per week of fresh and processed meat. The MD-Bt will be similar to the MD but supplemented with 1.8 g/day of oral butyrate. The three different dietary patterns will be isocaloric and related to participants’ nutritional requirements. Anthropometric measurements, body composition, blood and fecal samples will be obtained from each participant at the beginning and at the end of each intervention phase. The primary outcomes will be represented by the change from baseline of the BS gastrointestinal and systemic symptoms. Changes from baseline of GM composition, SCFA production, inflammatory and antioxidant profile will be considered as secondary outcomes. Discussion: BS is a rare disease, and, actually, not all the available treatments are target therapies. A supportive treatment based on dietary and lifestyle issues, able to restore immune system homeostasis, could have a high impact on costs sustainability for the treatment of such a chronic and disabling inflammatory condition.

Download Full-text