Primary coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

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Hereditary angioedema type III (estrogen-dependent) report of three cases and literature review*

Anais Brasileiros de Dermatologia ◽

10.1590/abd1806-4841.20131818 ◽

2013 ◽

Vol 88 (4) ◽

pp. 578-584 ◽

Cited By ~ 10

Author(s):

Amanda Rodrigues Miranda ◽

Ana Paula Fusel de Ue ◽

Dominique Vilarinho Sabbag ◽

Wellington de Jesus Furlani ◽

Patricia Karla de Souza ◽

...

Keyword(s):

Literature Review ◽

Clinical Features ◽

Oral Contraceptives ◽

Hereditary Angioedema ◽

Genetic Alterations ◽

C1 Inhibitor ◽

Type Iii ◽

Triggering Factors ◽

Encoding Gene ◽

And Control

In this article, three cases of hereditary angioedema (HAE) type III (estrogen-dependent or with normal C1 inhibitor) are reported. The HAE was initially described in women of the same family in association with high-leveled estrogenic conditions such as the use of oral contraceptives and pregnancy. There is no change in the C1 inhibitor as happens in other types of hereditary angioedema, and mutations are observed in the encoding gene of the XII factor of coagulation in several patients. The current diagnosis is mainly clinical and treatment consists in the suspension of the triggering factors and control of acute symptoms. A brief review of physiopathology, clinical features, genetic alterations and treatment are also presented.

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Clinical features of idiopathic portal hypertension in China: A retrospective study of 338 patients and literature review

Journal of Gastroenterology and Hepatology ◽

10.1111/jgh.14552 ◽

2018 ◽

Cited By ~ 3

Author(s):

Yongliang Sun ◽

Xu Lan ◽

Chen Shao ◽

Tailing Wang ◽

Zhiying Yang

Keyword(s):

Portal Hypertension ◽

Retrospective Study ◽

Literature Review ◽

Clinical Features ◽

Idiopathic Portal Hypertension

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COVID-19 associated delirium: pathogenetic mechanisms of induction and clinical features

Medical Herald of the South of Russia ◽

10.21886/2219-8075-2021-12-1-33-37 ◽

2021 ◽

Vol 12 (1) ◽

pp. 33-37

Author(s):

L. V. Tsoy

Keyword(s):

Older Adults ◽

Literature Review ◽

Clinical Features ◽

Systematic Literature Review ◽

Clinical Studies ◽

Present Review ◽

Google Scholar ◽

Pathogenetic Mechanisms ◽

Potential Factors

The present review describes pathogenetic mechanisms and clinical features of COVID-19 associated delirium. Potential factors leading to the named condition and pathophysiological chains were described elaborately, including older adults’ manifestation analysis based on the latest clinical studies. A systematic literature review was conducted in the following databases: PubMed, Scopus, e-library, Google Scholar and others.

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Agenesis of Maxillary Lateral Incisors: Treatment Involves Much More Than Just Canine Guidance

The Open Dentistry Journal ◽

10.2174/1874210601610010019 ◽

2016 ◽

Vol 10 (1) ◽

pp. 19-27 ◽

Cited By ~ 2

Author(s):

Giordani Santos Silveira ◽

José Nelson Mucha

Keyword(s):

Decision Making ◽

Literature Review ◽

Clinical Features ◽

Congenital Absence ◽

Term Stability ◽

Long Term Stability ◽

Canine Guidance ◽

The Individual ◽

Inform Decision Making

Objective: In this study, we aimed highlight some clinical features present in patients whose maxillary lateral incisors are missing, and proposed more logical, rational and predictable solutions to inform decision making in rehabilitation procedures. Methods: Literature review and discussion. Conclusion: Choosing the best possible treatment for congenital absence of maxillary lateral incisors depends on the multidisciplinary diagnosis of facial, occlusal, functional and periodontal features. It also depends on the individual long-term stability, and it does not only rely on canine-guided disocclusion.

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