scholarly journals Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Leonardo Bonini Fischetti ◽  
Julia Zaccarelli Magalhães ◽  
André Rinaldi Fukushima ◽  
Paula Waziry ◽  
Esther Lopes Ricci
Keyword(s):  
Systematic Review ◽  
Differential Diagnosis ◽  
Case Report ◽  
Animal Models ◽  
Case Reports ◽  
Accurate Diagnosis ◽  
Kabuki Syndrome ◽  
Live Births ◽  
Comparative Review ◽  
Secondary Phenotypes

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

Reticular erythematous mucinosis: Literature review and case report of a 24-year-old patient with systemic erythematosus lupus

Lupus ◽  
2020 ◽  
pp. 096120332096570
Author(s):  
Juliana P Ocanha-Xavier ◽  
Camila O Cola-Senra ◽  
Jose Candido C Xavier-Junior
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Literature Review ◽  
English Language ◽  
Case Reports ◽  
Histopathological Diagnosis ◽  
Skin Disorders ◽  
Histopathological Findings ◽  
Inflammatory Skin

Reticular erythematous mucinosis (REM) was first described 50 years ago, but only around 100 case reports in English have been published. Its relation with other inflammatory skin disorders is still being debated. We report a case of REM, including the clinical and histopathological findings. Also, a systematic review of 94 English-language reported cases is provided. The described criteria for clinical and histopathological diagnosis are highlighted in order to REM can be confidently diagnosed.

scholarly journals The clicking chest: what exactly did Hamman hear? A case report of a left-sided pneumothorax

2020 ◽  
Author(s):  
Nadeem Jimidar ◽  
Patrick Lauwers ◽  
Emmanuela Govaerts ◽  
Marc Claeys
Keyword(s):  
Computed Tomography ◽  
Differential Diagnosis ◽  
Case Report ◽  
Case Reports ◽  
Gunshot Wounds ◽  
Computed Tomography Scan ◽  
Imaging Studies ◽  
Left Chest ◽  
Case Summary ◽  
Tomography Scan

Abstract Background Hamman’s sign is a rare phenomenon. Louis Hamman described this pathognomonic clicking chest noise in association with pneumomediastinum in 1937. This typical noise can also be present in left-sided pneumothorax. Clinical cases already mention this pericardial knock in 1918 in gunshot wounds of the left chest and in 1928 in cases of spontaneous left-sided pneumothorax. However, the sound itself has only rarely been recorded. Case summary We describe a case of a young man with no significant medical history who was referred to the hospital with chest pain and audible clicks, documented with his smartphone. Imaging studies including chest radiograph and computed tomography scan revealed a left-sided pneumothorax. The patient underwent semi-urgent insertion of a thorax drain. His clinical outcome was excellent. Discussion In recent years only a few case reports describe Hamman’s sign, as it is rare and happens only transiently. This case report includes the audible clicks recorded by the patient with his smartphone. We stress the importance of thoracic clicking sounds as key symptom in the differential diagnosis of left-sided pneumothorax, pneumomediastinum, and valvular pathology such as mitral valve prolapse.

scholarly journals Dental Findings in Kabuki Syndrome: A Systematic Review for Dentistry

2020 ◽  
Vol 22 (2) ◽  
pp. 61-69
Author(s):  
Ricardo Barbosa-Lima ◽  
Amanda Lopes ◽  
Juliely N. F. De Moura ◽  
Sabrina N. Ribeiro ◽  
Matheus S. N. T. Cardoso
Keyword(s):  
Systematic Review ◽  
Clinical Case ◽  
Search Strategy ◽  
Case Reports ◽  
Kabuki Syndrome ◽  
Inclusion Criteria ◽  
Qualitative Synthesis ◽  
Genetic Condition ◽  
Language Data ◽  
Eleven Case

Kabuki syndrome consists in a series of congenital anomalies involving intellectual disability, hypotonia, and facial and body dysmorphism. In addition to these cardinal signs, craniofacial and dental changes are frequently observed, although they are not fully understood. Thus, the aim of this article is to present the dental findings in patients with Kabuki syndrome. This is a systematic review developed according to the PRISMA protocol. A search strategy with descriptors ("kabuki syndrome" AND "dentistry") was applied to six databases. As inclusion criteria, we selected clinical case reports that addressed dental findings in one or more patients with Kabuki syndrome between 1999 and 2019, without restrictions regarding gender, age or language. Data collection in all databases was performed by a calibrated evaluator and titles, abstracts and full-text studies were systematically analyzed. Eleven case reports that fit the proposed inclusion criteria were found. After the qualitative synthesis, teeth absence or agenesis were the most reported findings, being observed by nine authors. Less frequent dental findings in patients with this syndrome are taurodontism, microdontia, fusion, gemination and conical or screwdriver-shaped teeth. In fact, when any syndrome or genetic condition is related to manifestations of dental interest, the dental surgeon should be able to investigate them, especially teeth agenesis or absence. For this reason, the dentist should be aware of the manifestations of Kabuki syndrome, contributing to patients' understanding and management.

scholarly journals Sugammadex in systemic mastocytosis

2021 ◽  
Author(s):  
A. Becerra-Bolaños ◽  
V. Muiño-Palomar ◽  
S. Cabrera-Doreste ◽  
A. Rodríguez-Pérez
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Search Strategy ◽  
Perioperative Management ◽  
Systemic Mastocytosis ◽  
Case Reports ◽  
Anesthetic Management ◽  
Google Scholar ◽  
Current Evidence

AbstractPerioperative management in patients suffering from systemic mastocytosis is challenging. Most recommendations regarding anesthetic management in these patients are based on clinical reports, and there are controversies about the use of rocuronium and sugammadex. We present a case report of a patient with systemic mastocytosis who was given sugammadex for rocuronium reversal. Tryptase levels were monitored during the first postoperative 24 h, without evidence of elevation. We also performed a systematic review to provide an overview of current evidence regarding the safety of using sugammadex in patients suffering from systemic mastocytosis. The search strategy included PubMed and Google Scholar. All studies published up to and including January 2021 concerning anesthetic management in systemic mastocytosis were included. Of the 122 articles located, 9 articles were included: 2 reviews and 7 case reports. Data from reviewed studies confirm that sugammadex can safely be administered in patients suffering from systemic mastocytosis.

Thrombotic microangiopathy in the course of catastrophic antiphospholipid syndrome successfully treated with eculizumab: case report and systematic review of the literature

Lupus ◽  
2020 ◽  
Vol 29 (6) ◽  
pp. 631-639 ◽  
Author(s):  
Marta Skoczynska ◽  
Mark A Crowther ◽  
Malgorzata Chowaniec ◽  
Monika Ponikowska ◽  
Shruti Chaturvedi ◽  
...  
Keyword(s):  
Systematic Review ◽  
Case Report ◽  
Antiphospholipid Syndrome ◽  
Lupus Erythematosus ◽  
Single Case ◽  
Case Reports ◽  
Review Of The Literature ◽  
Catastrophic Antiphospholipid Syndrome ◽  
Total Remission

Objective The purpose of this study was to characterize the role of eculizumab, a monoclonal antibody against the terminal complement component C5, in patients with catastrophic antiphospholipid syndrome (CAPS). Methods We present a case report of a patient with systemic lupus erythematosus (SLE) and CAPS treated with eculizumab, as well as results of a systematic review of the literature. Results Including our patient, we identified 11 case reports of patients with CAPS treated with eculizumab. All of them had partial or total remission of symptoms. Conclusion Data on eculizumab efficacy in CAPS are promising but are limited to single case reports. More studies are needed to develop evidence-based recommendations for eculizumab use in CAPS.

scholarly journals Advancing Mandibular Swelling: A Diagnostic Dilemma

2013 ◽  
Vol 14 (4) ◽  
pp. 754-758
Author(s):  
KF Basavaraj ◽  
AU Madihalli ◽  
Abdul Mujeeb ◽  
Samir Mansuri ◽  
Mohammed Abid Hussain
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Early Diagnosis ◽  
Treatment Planning ◽  
Malignant Tumors ◽  
Accurate Diagnosis ◽  
Illustrative Case ◽  
Diagnostic Dilemma ◽  
Radiological Features ◽  
The Face

ABSTRACT Asymmetrical swelling of the mandible in adolescence may pose a significant diagnostic dilemma. The differential diagnosis ranges from traumatic, infectious, and metabolic processes to benign and malignant tumors. Also may present with similar clinical and radiological features, making an accurate diagnosis quite difficult. This is an illustrative case involving a 30-year-old female who initially presented with complaint of pain and swelling in the lower left side of the face for 2 months. Multiple investigations and several biopsies were required to arrive at a diagnosis. This paper deals with a case report of a fibrosarcoma involving the mandible highlighting the importance of early diagnosis and treatment planning. How to cite this article Basavaraj KF, Madihalli AU, Mujeeb A, Mansuri S, Hussain MA. Advancing Mandibular Swelling: A Diagnostic Dilemma. J Contemp Dent Pract 2013;14(4):754-758.

scholarly journals Ectodermal dysplasia: case report of aesthetic and functional rehabilitation

2017 ◽  
Vol 20 (1) ◽  
pp. 110
Author(s):  
Nattália Di Lanaro ◽  
Khawana Faker ◽  
Viviane Andrade Cancio Paula ◽  
Mônica Almeida Tostes
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Undergraduate Students ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Descriptive Study ◽  
Prosthetic Rehabilitation ◽  
Functional Rehabilitation ◽  
Rehabilitative Treatment ◽  
Removable Prosthesis

<p><strong>Objective: </strong>The aim of this study is<strong> </strong>to report a case of aesthetic and prosthetic rehabilitation of a male 6-year-old patient diagnosed with Hipohidrotic Ectodermal Dysplasia, attended at the clinic of special patients held in the extension project of the Federal Fluminense University. <strong>Methods: </strong>This is a clinical, observational and descriptive study where the restorative and rehabilitative treatment was conducted and reported corresponding to the functional and aesthetic needs of the patient. <strong>Results: </strong>It was  realized the reconstruction of the anatomical shape of the teeth 51 and 61 and also was made a partial removable prosthesis to cover the absence of the teeth 71, 72, 74, 81 and 82, offering function, aesthetics and satisfaction reported by the patient. <strong>Conclusion: </strong>This case reports contributed to the increase of knowledge about the forms of Ectodermal Dysplasia on the importance of the differential diagnosis of the same, as well as to the teaching of the extension project of undergraduate students.</p>

scholarly journals Retained radicular/ residual cyst- A case report

2019 ◽  
pp. 18-22
Author(s):  
R. Muthunagai ◽  
Mudit Agarwal ◽  
R.Siva Sankary
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Early Detection ◽  
Key Words ◽  
Accurate Diagnosis ◽  
Odontogenic Cysts ◽  
Radicular Cyst ◽  
Proper Treatment ◽  
Surrounding Bone

Inflammatory odontogenic cysts are benign osteolytic asymptomatic lesions, but that, depending on the size, they can destroy the surrounding bone and let it infected. The term residual cyst is used most often for retained radicular cyst from teeth that has been removed. Residual cysts are among most common cysts of the jaws. This article aims to report characteristics and main aspects and highlighting the importance of the differential diagnosis for the treatment of these lesions. It can be concluded that early detection and accurate diagnosis are essential for the proper treatment of the residual cysts. Key Words- Residual cyst, radicular cyst, enucleation

scholarly journals Cushing's, Dilated Cardiomyopathy and Stroke: Case Report and Literature Review

1970 ◽  
Vol 11 (2) ◽  
Author(s):  
Aasha Gill MBBS ◽  
Naeem Dean MBBS ◽  
Rany Al-Agha MD
Keyword(s):  
Coronary Artery Disease ◽  
Differential Diagnosis ◽  
Case Report ◽  
Dilated Cardiomyopathy ◽  
Case Reports ◽  
Rare Complication ◽  
Screening Tests ◽  
Idiopathic Dilated Cardiomyopathy ◽  
Non Invasive ◽  
Artery Disease

Dilated cardiomyopathy(DC) is a rare complication of Cushing ’s syndrome. Hypertension and coronary artery disease tend to persist even after treatment of source of hypercortisolism as evidenced by previous studies. Based on a few case reports, Dilated Cardiomyopathy appears to be completely reversible with treatment of Cushing’s. We suggest that, in patients with idiopathic dilated cardiomyopathy, Cushing’s syndrome should be considered in the differential diagnosis. In patients with clinical features of Cushing’s, appropriate screening tests for Cushing’s should be carried out, which are inexpensive, non-invasive and readily available.

scholarly journals Case Reports of a New Method for Differential Diagnosis of Calcified Carotid Artery Atheroma

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Guilherme Augusto Alves de Oliveira ◽  
Cleiterson Rezende de Sá ◽  
Omar Ribeiro Santos Junior ◽  
Rafael Pereira da Mata Santos ◽  
Flávio Ricardo Manzi
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Cardiovascular Diseases ◽  
Carotid Artery ◽  
Panoramic Radiography ◽  
Case Reports ◽  
Cervical Region ◽  
Dental Practice ◽  
Radiographic Technique ◽  
Precise Diagnosis

Introduction. Early diagnosis of calcified atheromas may decrease morbidity and mortality caused by brain and cardiovascular diseases, in which atherosclerosis is the main etiological factor of these pathologies. Dental examinations with the aim of detecting this pathology have been in progress since 1981, such as panoramic radiography, considered the most widely studied method for this diagnosis. However, some limitations of this exam have been reported with reference to inability to visualize the cervical region and difficulty of establishing a precise diagnosis because of many structures and calcifications that have similar radiographic characteristics. Case Report. The present study to describe a dental radiographic technique for establishing the differential diagnosis of calcified atheromas regarding other calcifications and reporting 3 clinical cases that demonstrate its effectiveness in different clinical situations. Discussion. Manzi Projection can promote a differential diagnosis of calcified atheromas in dental practice and consequently subsidize the clinician for referring the patient to the physician.

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