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

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.

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

2020 ◽  
Vol 1 (2) ◽  
pp. 6-10
Author(s):  
L.A. Ponomareva ◽  
◽  
L.A. Panchenko ◽  
A.B. Ponomarev ◽  
E.N. Popova ◽  
...  
Keyword(s):  
Nervous System ◽  
Literature Review ◽  
Clinical Observation ◽  
Clinical Manifestations ◽  
Unknown Etiology ◽  
Thrombocytopenic Purpura ◽  
Hematologic Disorders ◽  
Autoimmune Thrombocytopenic Purpura ◽  
Wide Range ◽  
Systemic Sarcoidosis

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.

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

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.

NEUROPSYCHIC POLYMORPHISM OF JUVENILE SYSTEMIC LUPUS ERYTHEMATOSUS

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.

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

scholarly journals Neuregulins in Neurodegenerative Diseases

2021 ◽  
Vol 13 ◽  
Author(s):  
Guan-yong Ou ◽  
Wen-wen Lin ◽  
Wei-jiang Zhao
Keyword(s):  
Nervous System ◽  
Neurodegenerative Diseases ◽  
Therapeutic Potential ◽  
Neuronal Loss ◽  
Structural Features ◽  
Wide Range ◽  
Erbb Signaling ◽  
The Central Nervous System ◽  
Epidermal Growth ◽  
Erbb Signaling Pathway

Neurodegenerative diseases, including Alzheimer’s disease (AD), Parkinson’s disease (PD) and amyotrophic lateral sclerosis (ALS), are typically characterized by progressive neuronal loss and neurological dysfunctions in the nervous system, affecting both memory and motor functions. Neuregulins (NRGs) belong to the epidermal growth factor (EGF)-like family of extracellular ligands and they play an important role in the development, maintenance, and repair of both the central nervous system (CNS) and peripheral nervous system (PNS) through the ErbB signaling pathway. They also regulate multiple intercellular signal transduction and participate in a wide range of biological processes, such as differentiation, migration, and myelination. In this review article, we summarized research on the changes and roles of NRGs in neurodegenerative diseases, especially in AD. We elaborated on the structural features of each NRG subtype and roles of NRG/ErbB signaling networks in neurodegenerative diseases. We also discussed the therapeutic potential of NRGs in the symptom remission of neurodegenerative diseases, which may offer hope for advancing related treatment.

scholarly journals Modern aspects of neuropathogenesis and neurological manifestations of COVID-19

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.

scholarly journals Genetic testing for ocular coloboma

2017 ◽  
Vol 1 (s1) ◽  
pp. 29-31 ◽  
Author(s):  
Andi Abeshi ◽  
Carla Marinelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Fundus Examination ◽  
Live Births ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZD5 genes and in an autosomal recessive manner associated with variations in the SALL2 gene. Overall prevalence is 1 per 100,000 live births. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, fundus examination and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature

2018 ◽  
Vol 154 (4) ◽  
pp. 181-186 ◽  
Author(s):  
Elifcan Taşdelen ◽  
Ceren D. Durmaz ◽  
Halil G. Karabulut
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Rare Condition ◽  
Clinical Findings ◽  
Homozygous Mutation ◽  
Nasal Bridge ◽  
Oculodentodigital Dysplasia ◽  
Autosomal Recessive Manner

Oculodentodigital dysplasia (ODDD) is a rare condition characterized by a typical facial appearance and variable findings of the eyes, teeth, and fingers. ODDD is caused by mutations in the GJA1 gene in chromosome 6q22 and inherited in an autosomal dominant manner in the majority of the patients. However, in recent clinical reports, autosomal recessive ODDD cases due to by GJA1 mutations were also described. Here, we report on a 14-year-old boy with microphthalmia, microcornea, narrow nasal bridge, hypoplastic alae nasi, prominent columnella, hypodontia, dental caries, and partial syndactyly of the 2nd and 3rd toes. These clinical findings were concordant with the diagnosis of ODDD, and a novel homozygous mutation (c.442C>T, p.Arg148Ter) was determined in the GJA1 gene leading to a premature stop codon. His phenotypically normal parents were found to be carriers of the same mutation. This is the third family in the literature in which ODDD segregates in an autosomal recessive manner.

scholarly journals Split-hand/split-foot malformation (SHFM)

2014 ◽  
Vol 6 (1) ◽  
pp. 122-123
Author(s):  
Monojit Mondal ◽  
Kriti Sundar Rana ◽  
Nayan Banerji ◽  
Sayan Bose ◽  
Tanmoy Biswas ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Mode ◽  
Medical Sciences ◽  
Limb Malformation ◽  
Median Cleft ◽  
Congenital Limb ◽  
Mode Of Inheritance

 Split-hand/split-foot malformation (SHFM), also known as ectrodactyly or lobster claw hand is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays of the autopod. It may occur singly or in association with syndromes, former being mostly autosomal dominant but autosomal recessive variety is rare. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance DOI: http://dx.doi.org/10.3126/ajms.v6i1.10018   Asian Journal of Medical Sciences Vol.6(1) 2015 122-123  

scholarly journals Genetic testing for Stargardt macular dystrophy

2017 ◽  
Vol 1 (s1) ◽  
pp. 105-107 ◽  
Author(s):  
Andi Abeshi ◽  
Alessandra Zulian ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Field Testing ◽  
Macular Dystrophy ◽  
Ophthalmological Examination ◽  
Visual Field Testing ◽  
Autosomal Recessive Manner

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Stargardt macular dystrophy (STGD). STGD is mostly inherited in an autosomal recessive manner and rarely in an autosomal dominant manner, with an overall prevalence of 1-5 per 10 000 live births. It is caused by variations in the ABCA4, CNGB3, ELOVL4, PRPH2 and PROM1 genes. Clinical diagnosis is based on ophthalmological examination, fluorescein angiography, electroretinography, visual field testing, optical coherence tomography and color testing. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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