RUBINSTEIN-TEIBI SYNDROME

2021 ◽  
Vol 100 (6) ◽  
pp. 97-104
Author(s):  
O.R. Ismagilova ◽  
◽  
T.S. Beskorovainaya ◽  
T.A. Adyan ◽  
◽  
...  
Keyword(s):  
Mental Retardation ◽  
Literature Review ◽  
Clinical Manifestations ◽  
Physical Development ◽  
Differential Diagnostics ◽  
Phenotypic Correlations

Rubinstein-Teibi syndrome (RTS) is a multisystem pathology characterized by mental retardation and delayed physical development combined with characteristic external manifestations that make up a recognizable picture of the disease. The literature review highlights the clinical manifestations of RTS, considers the issues of geno-phenotypic correlations and differential diagnostics, describes the possibilities and prospects of diagnostics and treatment, taking into account the results of modern research.

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

Investigating Diseases and Chemicals in COVID-19 Literature with Text Mining (Preprint)

2020 ◽  
Author(s):  
Amir Karami ◽  
Brandon Bookstaver ◽  
Melissa Nolan
Keyword(s):  
Text Mining ◽  
Literature Review ◽  
Topic Modeling ◽  
Large Scale ◽  
Clinical Manifestations ◽  
International Health ◽  
Research Papers ◽  
Strategic Plans ◽  
Funding Agencies ◽  
The Relationship

BACKGROUND The COVID-19 pandemic has impacted nearly all aspects of life and has posed significant threats to international health and the economy. Given the rapidly unfolding nature of the current pandemic, there is an urgent need to streamline literature synthesis of the growing scientific research to elucidate targeted solutions. While traditional systematic literature review studies provide valuable insights, these studies have restrictions, including analyzing a limited number of papers, having various biases, being time-consuming and labor-intensive, focusing on a few topics, incapable of trend analysis, and lack of data-driven tools. OBJECTIVE This study fills the mentioned restrictions in the literature and practice by analyzing two biomedical concepts, clinical manifestations of disease and therapeutic chemical compounds, with text mining methods in a corpus containing COVID-19 research papers and find associations between the two biomedical concepts. METHODS This research has collected papers representing COVID-19 pre-prints and peer-reviewed research published in 2020. We used frequency analysis to find highly frequent manifestations and therapeutic chemicals, representing the importance of the two biomedical concepts. This study also applied topic modeling to find the relationship between the two biomedical concepts. RESULTS We analyzed 9,298 research papers published through May 5, 2020 and found 3,645 disease-related and 2,434 chemical-related articles. The most frequent clinical manifestations of disease terminology included COVID-19, SARS, cancer, pneumonia, fever, and cough. The most frequent chemical-related terminology included Lopinavir, Ritonavir, Oxygen, Chloroquine, Remdesivir, and water. Topic modeling provided 25 categories showing relationships between our two overarching categories. These categories represent statistically significant associations between multiple aspects of each category, some connections of which were novel and not previously identified by the scientific community. CONCLUSIONS Appreciation of this context is vital due to the lack of a systematic large-scale literature review survey and the importance of fast literature review during the current COVID-19 pandemic for developing treatments. This study is beneficial to researchers for obtaining a macro-level picture of literature, to educators for knowing the scope of literature, to journals for exploring most discussed disease symptoms and pharmaceutical targets, and to policymakers and funding agencies for creating scientific strategic plans regarding COVID-19.

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

TRANSIENT ISCHEMIC ATTACKS: ETIOPATHOGENESIS, CLINIC. (Literature review)

Vestnik ◽  
2021 ◽  
pp. 91-96
Author(s):  
Г.Ж. Жакенова ◽  
Р.Б. Нуржанова ◽  
К.Б. Сраилова ◽  
Ж.С. Шерияздан ◽  
А.Б. Ташманова ◽  
...  
Keyword(s):  
Risk Factors ◽  
Differential Diagnosis ◽  
Literature Review ◽  
Clinical Manifestations ◽  
Transient Ischemic Attacks ◽  
Review Of The Literature ◽  
Imaging Signs

В данной статье представлен обзор литературы по транзиторным ишемическим атакам: эпидемиология, этиология, патогенез, классификация, основные характеристики с учетом факторов риска, визуализационных признаков МРТ и КТ, клинических проявлений и дифференциальной диагностики данного заболевания на основе современных исследований. This article presents a review of the literature on transient ischemic attacks: epidemiology, etiology, pathogenesis, classification, main characteristics taking into account risk factors, imaging signs of MRI and CT, clinical manifestations and differential diagnosis of this disease based on modern research.

Epidermoid brain cysts: a case report and a literature review

2021 ◽  
pp. 358-371
Author(s):  
Maksim Vladimirovich Shpagin ◽  
Anton Viktorovich Yarikov ◽  
Denis Nikolaevich Nikitin ◽  
Igor Anatolievich Lobanov ◽  
Ivan Aleksandrovich Laganin ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Cerebellopontine Angle ◽  
Clinical Manifestations ◽  
Complex Treatment ◽  
Brain Pathology ◽  
Epidermoid Cysts ◽  
Histological Picture ◽  
Clinical Observations ◽  
Brain Cysts

The article is devoted to rare brain pathology, i.e. epidermoid cysts. The histological picture of the tumor is described; the classification is given. On the basis of our own clinical observations and a literature review, the features of the clinical manifestations of cholesteatoma of the cerebellopontine angle, modern approaches to the diagnosis and tactics of complex treatment are presented.

Screening Patients with Mental Retardation for Polydipsia

1996 ◽  
Vol 41 (8) ◽  
pp. 523-527 ◽  
Author(s):  
Jonathan Hayfron-Benjamin ◽  
Claudia A Peters ◽  
Rosamund A Woodhouse
Keyword(s):  
Mental Retardation ◽  
Interrater Reliability ◽  
Chart Review ◽  
Preventive Measures ◽  
Clinical Manifestations ◽  
Primary Caregivers ◽  
Water Intoxication ◽  
Chronic Complications ◽  
Appropriate Care ◽  
Screening Question

Objectives: To determine whether caregiver responses to a screening question are a reliable method of identifying polydipsia (excessive water drinking) in institutionalized residents with mental retardation. To review the etiology, acute and chronic clinical manifestations, and care of polydipsia and water intoxication. Method: This paper presents an assessment of interrater reliability for a screening question for polydipsia using responses of primary caregivers of preidentified polydipsia cases (n = 32) and matched controls (n = 33) in a large Canadian institution for developmentally handicapped adults. A chart review of all cases of identified water intoxication is also provided. The behavioural outcomes of preventive measures for water intoxication are described. Results: The screening instrument was reliable, having a κ (interrater reliability) of 0.73. Several case descriptions illustrate typical presentations of water intoxication in this population. Conclusions: Polydipsia is reliably identified by caregiver responses to a screening question. It should be screened for regularly to ensure appropriate care to prevent important acute and chronic complications.

scholarly journals Ornidazole-Induced Recurrent Encephalopathy in a Chinese Man: A Rare Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Rong Tang ◽  
Jia Liang ◽  
Yuanfang Li ◽  
Tingting Wu ◽  
Yuhao Zhang ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Corpus Callosum ◽  
Cerebellar Ataxia ◽  
Drug Withdrawal ◽  
Clinical Manifestations ◽  
Good Prognosis ◽  
Drug Discontinuation ◽  
Imaging Features ◽  
Mental Symptoms

Ornidazole-induced encephalopathy (OIE) is seldom seen in the clinic. In this study, we report a new case of a patient who had taken 1,000 mg ornidazole daily for nearly 4 years because of suspected diarrhea and proctitis and presented with subacute symptoms such as unsteady gait, slurred speech, and psychiatric disorder. These symptoms were significantly relieved 3 days after the patient stopped taking ornidazole. When he took this medicine again, however, similar symptoms occurred 4 months later, which were again reduced after 4 days of drug discontinuation. After the second onset, abnormal signals were identified around the aqueduct of the midbrain, around the fourth ventricle, and in the dentate nuclei of the cerebellum bilaterally. After 9 days of drug discontinuation, lesions disappeared in the magnetic resonance imaging (MRI) results. According to the clinical manifestations, imaging features, and the reduced symptoms after drug withdrawal, we clinically diagnosed the patient with OIE. This paper also reviews the literature on OIE. Only five cases (including our case) have been reported, all of whom presented with cerebellar ataxia and dysarthria and three with additional mental symptoms such as agitation and irritability. All five patients had abnormal lesions in the dentate nucleus of the cerebellum bilaterally, among whom four also had lesions in the corpus callosum and three around the periaqueduct of the midbrain. After withdrawal of ornidazole, the symptoms in all patients vanished or were alleviated, and three of them showed reduced or disappeared lesions in a head MRI reexamination. Overall, OIE has rarely been reported. Our case report and literature review show that the lesions in the cerebellum, corpus callosum, and brainstem can be reversed. The main manifestations of the lesions—cerebellar ataxia, dysarthria, and mental symptoms—quickly weaken or disappear after drug withdrawal, with good prognosis. Nevertheless, clear pathogenesis has yet to be further investigated.

scholarly journals Clinical manifestations of chronic subdural hematoma in the elderly: Literature Review

2021 ◽  
Author(s):  
Gabriela Ferreira Kalkmann ◽  
Carlos Umberto Pereira ◽  
Francisco de Assis Pereira ◽  
Débora Moura da Paixão Oliveira ◽  
Nicollas Nunes Rabelo
Keyword(s):  
Early Diagnosis ◽  
Literature Review ◽  
Subdural Hematoma ◽  
Elderly Population ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Chronic Subdural Hematoma ◽  
Signs And Symptoms ◽  
The Elderly ◽  
Study Results

Introduction: The clinical manifestations of chronic subdural hematoma (CSDH) are often confused with other medical entities in the elderly, making their early diagnosis difficult or difficult. Early diagnosis is important, since its prognosis is directly associated with the preoperative neurological state, thus resulting in a worse vital and functional prognosis. Objectives: Report through a literature review the clinical manifestations of CSDH in the elderly population. Methods: Literature review, with the search terms: “Signs and Symptoms”, “Chronic Subdural Hematoma”, Aged, Diagnosis and Prognosis. In which PubMed, Lilacs, Scielo, Cochrane and TripDataBase data platforms were used. The inclusion criteria were: original studies published in any language. Articles in which full reading was prevented were excluded. With the application of the inclusion and exclusion criteria, 110 articles were included in the study. Results: Clinical presentation depends on the location, volume of the hematoma, rapid growth, the location of the CSDH, whether unilateral or bilateral, and the clinical conditions of the patient. Because the forms of clinical presentation of CSDH are variable, it is necessary that health professionals linked to the elderly (geriatrician, psychiatrist, general practitioner) have knowledge of this clinical entity. Conclusions: The recognition of classic forms as well as the identification of risk factors in the elderly favors the timely diagnosis and treatment of CSDH in the elderly population.

scholarly journals ATRIOVENTRICULAR CONDUCTION DISORDERS (A LITERATURE REVIEW)

2018 ◽  
pp. 17-23 ◽  
Author(s):  
I. Y. Lukianova
Keyword(s):  
Literature Review ◽  
Clinical Manifestations ◽  
Atrioventricular Conduction ◽  
Diagnosis And Management ◽  
Conduction Disorders ◽  
Av Conduction ◽  
Ecg Interpretation

This review discusses the electrophysiological causes of AV conduction disorders, evolution of the classifications of AV blocks, epidemiology, clinical manifestations, diagnosis and management of patients with AV conduction disorders. Indications for electrotherapy are considered. Typical mistakes in ECG interpretation related to AV blocks are analyzed.

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