scholarly journals Pachyonychia Congenita Type PC-K6a: The first report in the Vietnamese population

2021 ◽  
Vol 8 (6) ◽  
pp. 4434-4438
Author(s):  
Ha Thi Chu ◽  
Doanh Huu Le ◽  
Thieu Van Le ◽  
Binh Bui Nguyen ◽  
Janice Schwartz ◽  
...  
Keyword(s):  
Clinical Features ◽  
Molecular Level ◽  
Genetic Disorders ◽  
Oral Candidiasis ◽  
Clinical Impression ◽  
Nail Dystrophy ◽  
Case Presentation ◽  
First Report ◽  
Vietnamese Population ◽  
Pachyonychia Congenita

Background: Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratosis, and oral leukokeratosis. It is associated with mutations in five differentiationspecific keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The case is being reported for its rarity. To the best of our knowledge, this is the first report of PC, from Vietnam, confirmed by genetic analysis. Case presentation: A four-year-old Vietnamese girl presented with a thickened nail and oral leukokeratosis soon after birth. She was diagnosed with onychomycosis and chronic oral candidiasis and was treated with systemic anti-fungals in children's hospitals and dermatology departments multiple times; however, no treatments were effective. In collaboration with the International Pachyonychia Congenita Research Registry (IPCRR), the clinical features were consistent with a diagnosis of PC type PC-K6a. The genetic testing, performed through the IPCRR, shows a K6a N171K mutation. Conclusions: The IPCRR helps screen PC's clinical features and confirm a diagnosis at the molecular level, which is beneficial and crucial for validating the condition's clinical impression.

scholarly journals Pachyonychia Congenita - Can a Specific Phenotype be a Clue to a Genetic Defect? - a Case Report and Literature Review

2017 ◽  
Vol 9 (3) ◽  
pp. 119-123
Author(s):  
Jovan Lalošević ◽  
Mirjana Gajić-Veljić ◽  
Jelena Stojković-Filipović ◽  
Martina Bosić ◽  
Miloš Nikolić
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Clinical Features ◽  
Genetic Defect ◽  
New Classification ◽  
Nail Dystrophy ◽  
Clinical Presentations ◽  
Keratin Proteins ◽  
Pachyonychia Congenita ◽  
Mutation Type

Abstract Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterized by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. These pathological clinical features are resulting from mutations in keratin proteins including KRT6A, KRT6B, KRT6C, KRT16, and KRT17. We present a 6-year-old girl with hypertrophic nail dystrophy, follicular hyperkeratosis, circumscribed plantar keratoderma and oral leukokeratosis. The features were consistent with the diagnosis of PC. The patient has been registered in the International Pachyonychia Congenita Research Registry (IPCRR) and is waiting for a detailed genetic analysis. The IPCRR has contributed to publication of numerous papers which emphasized the importance of the mutation type affecting various clinical presentations of PC. Based on recent data, a new classification system has been developed for PC, and it is gradually replacing the earlier classifications. It is based almost exclusively on the mutated genes. In this report we have raised the hypothesis that distinctive clinical features may be highly suggestive of a specific keratin mutation.

scholarly journals First report of urinary tract infection caused by Comamonas kerstersii in a goat

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Silvia Pavone ◽  
Roberto Rinoldo ◽  
Elisa Albini ◽  
Alessandro Fiorucci ◽  
Biagio Caponi ◽  
...  
Keyword(s):  
Urinary Tract Infection ◽  
Urinary Tract ◽  
Tract Infection ◽  
Histopathological Examination ◽  
Severe Depression ◽  
Renal Infarction ◽  
Case Presentation ◽  
First Report ◽  
Flight Mass Spectrometry ◽  
Abdominal Organs

Abstract Background Comamonas kerstersii is rarely associated with infections in humans and has never been reported in animals until now. Case presentation Herein, we describe a case of urinary tract infection caused by C. kerstersii in a young goat. A seven-month-old male goat showed lethargy, generalised weakness and anorexia and in the last hours before its death, severe depression, slight abdominal distention, ruminal stasis, and sternal recumbency. Grossly, multifocal haemorrhages in different organs and tissues, subcutaneous oedema and hydrocele, serous fluid with scattered fibrin deposition on the serosa of the abdominal organs and severe pyelonephritis with multifocal renal infarction were detected. Histopathological examination confirmed severe chronic active pyelonephritis with renal infarcts, multi-organ vasculitis and thrombosis suggestive of an infectious diseases of bacterial origin. The bacterium was identified using routine methods, matrix assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF-MS), and sequencing of the gyrB gene. Conclusions To the best of our knowledge, this is the first report of C. kerstersii infection in animals (goat). Our findings support the possibility of C. kerstersii isolation from extraintestinal sites and suggest this organism as a possible cause of urinary tract infection.

scholarly journals Primary Osteosarcoma of the Breast: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Anna Rizzi ◽  
Alberto Soregaroli ◽  
Claudia Zambelli ◽  
Fausto Zorzi ◽  
Stefano Mutti ◽  
...  
Keyword(s):  
Case Report ◽  
Adjuvant Chemotherapy ◽  
Soft Tissue ◽  
Clinical Features ◽  
Optimal Treatment ◽  
Skeletal System ◽  
Case Presentation ◽  
Primary Osteosarcoma ◽  
Haematogenous Spread ◽  
Tissue Form

Introduction. Primary osteosarcoma of the breast is a rare soft-tissue form of osteosarcoma without involvement of the skeletal system. Due to the rarity of the disease, its clinical features and optimal treatment remain unclear.Case Presentation. This case report deals with a 62-year-old woman with pure osteosarcoma of the breast.Conclusions. The prognosis of primary osteosarcoma of the breast is poor. Recurrence is frequent, and it is often associated with haematogenous spread of the disease to the lung. Treatment follows the model of sarcomas affecting other locations and must be planned in a multidisciplinary fashion. Adjuvant chemotherapy should be considered for patients with tumors showing aggressive features.

scholarly journals Seroprevalence of human immunodeficiency virus infection among tuberculosis patients at tertiary care combined hospital

2015 ◽  
Vol 3 (3) ◽  
pp. 130-135
Author(s):  
Rakesh Basavareddy ◽  
Asha Basavareddy ◽  
Shimoga Laxman Ravi ◽  
Bilagumba Ramu Kiran ◽  
Gadwalkar R. Srikant
Keyword(s):  
Human Immunodeficiency Virus ◽  
Hiv Infection ◽  
Clinical Features ◽  
Oral Candidiasis ◽  
Tertiary Care ◽  
Chi Square ◽  
Cross Sectional ◽  
Hiv Seroprevalence ◽  
Adequate Knowledge ◽  
Immunodeficiency Virus

Abstract Background and Objectives: Tuberculosis (TB) and the human immunodeficiency virus (HIV) infection have reached epidemic proportions in our country. This study was undertaken to know the seroprevalence of HIV infection among TB patients and to evaluate the various clinical features of TB in seropositive and seronegative patients. This study was undertaken in Vijayanagara Institute of Medical Sciences, Bellary. It was cross-sectional comparative observational study conducted from December 2010 to May 2012. Materials and Methods: A total of 100 consecutive patients diagnosed with TB satisfying inclusion criteria were selected for the study. All patients went through a detailed evaluation along with testing for HIV seroprevalence. Chi-square and Student’s t-tests used to find the significance between two groups. Results: The overall HIV seroprevalence among TB patients was 8%. Seroprevalence was highest in the age group between 31 and 40 years at 29.41% (odds ratio [OR] = 11.11, P = 0.003). It was found that seropositive TB patients were more likely to present with significant weight loss (OR = 19.25, P= 0.000), and have lymphadenopathy OR = 13.24, P = 0.002) and oral candidiasis (OR = 49.44, P = 0.000) on examination. Bilateral chest radiographic involvement (OR = 57.40, P = 0.000) and the disseminated variety of the disease (OR = 29.67, P = 0.001) are also more probable. Conclusions: Human immunodeficiency virus seroprevalence is quite high among TB patients in Bellary. During the evaluation of TB patients, the possibility of HIV co-infection should be kept in mind, and thus adequate knowledge of the likely clinical features is absolutely necessary.

Genetics of cardiomyopathies: cardiac manifestations of genetic mitochondrial diseases

ESC CardioMed ◽  
2018 ◽  
pp. 705-710
Author(s):  
Abdallah Fayssoil
Keyword(s):  
Prognostic Factors ◽  
Clinical Features ◽  
Respiratory Chain ◽  
Genetic Counselling ◽  
Genetic Disorders ◽  
Mitochondrial Diseases ◽  
Mitochondrial Disorders ◽  
First Case ◽  
Life Threatening ◽  
Cardiac Manifestations

Mitochondrial disorders are multisystemic and heterogeneous diseases. Their clinical phenotype is a consequence of a defect in the respiratory chain due to genetic disorders. The first case was reported by Luft and colleagues in 1960. Today, the prevalence of mitochondrial diseases is estimated to be 1:5000. Symptoms may appear at any age and the disease may affect any organ. The heart can be involved in different ways from cardiomyopathy to life-threatening arrhythmia. The management is based on a multidisciplinary approach with genetic counselling being fundamental. This chapter reviews the mitochondrial physiology, the clinical features, and diagnosis of mitochondrial disorders, with a particular focus on cardiac involvement, its management, and prognostic factors.

scholarly journals Subacute Thyroiditis from COVID-19 Infection: A Case Report and Review of Literature

2020 ◽  
pp. 1-5
Author(s):  
Akshay Khatri ◽  
Esti Charlap ◽  
Angela Kim
Keyword(s):  
Clinical Features ◽  
Clinical Laboratory ◽  
Early Recognition ◽  
Subacute Thyroiditis ◽  
The Novel ◽  
Review Of Literature ◽  
Successful Management ◽  
Case Presentation ◽  
Radiologic Findings ◽  
History Of

<b><i>Introduction:</i></b> The novel severe-acute-respiratory-syndrome-coronavirus-2 (SARS-CoV-2) virus has led to the ongoing Coronavirus disease 2019 (COVID-19) disease pandemic. There are increasing reports of extrapulmonary clinical features of COVID-19, either as initial presentations or sequelae of disease. We report a patient diagnosed with subacute thyroiditis precipitated by COVID-19 infection, as well as review the literature of similar cases. <b><i>Case Presentation:</i></b> A 41-year-old female with no significant personal or family history of endocrinologic disorders presented with clinical features of thyroiditis that began after COVID-19 infection. Clinical, laboratory, and radiologic findings were indicative of subacute thyroiditis. Workup for potential triggers other than SARS-CoV-2 was negative. <b><i>Discussion/Conclusion:</i></b> We compared the clinical and diagnostic findings of our patient with other well-documented cases of subacute thyroiditis presumed to be triggered by SARS-CoV-2 viral infection. We also reviewed the literature related to the potential mechanisms leading to thyroiditis. Clinicians must be aware of the possibility of thyroid dysfunction after COVID-19 infection. Early recognition and timely anti-inflammatory therapy help in successful management.

scholarly journals Spinal Osteosarcoma

2013 ◽  
Vol 7 ◽  
pp. CMO.S10099 ◽  
Author(s):  
P. Katonis ◽  
G. Datsis ◽  
A. Karantanas ◽  
A. Kampouroglou ◽  
S. Lianoudakis ◽  
...  
Keyword(s):  
Adjuvant Radiotherapy ◽  
Molecular Level ◽  
Genetic Disorders ◽  
Diagnostic Procedures ◽  
Tumor Removal ◽  
Primary Bone Tumor ◽  
Histopathological Classification ◽  
Genetic Complexity ◽  
Primary Bone ◽  
Almost All

Although osteosarcoma represents the second most common primary bone tumor, spinal involvement is rare, accounting for 3%–5% of all osteosarcomas. The most frequent symptom of osteosarcoma is pain, which appears in almost all patients, whereas more than 70% exhibit neurologic deficit. At a molecular level, it is a tumor of great genetic complexity and several genetic disorders have been associated with its appearance. Early diagnosis and careful surgical staging are the most important factors in accomplishing sufficient management. Even though overall prognosis remains poor, en-block tumor removal combined with adjuvant radiotherapy and chemotherapy is currently the treatment of choice. This paper outlines histopathological classification, epidemiology, diagnostic procedures, and current concepts of management of spinal osteosarcoma.

scholarly journals Needle Stick Injury by Aqueous Humor of a 31 Year Old PCR-Positive HIV Patient, a Case Report

2021 ◽  
Author(s):  
Bahram Bohrani Sefidan ◽  
Amin Dehghani Sanij
Keyword(s):  
Case Report ◽  
Health Worker ◽  
Aqueous Humor ◽  
Hiv Transmission ◽  
Body Fluids ◽  
Needle Stick Injury ◽  
Case Presentation ◽  
Needle Stick ◽  
First Report ◽  
Internal Body

Abstract Background Health worker Needle-stick injury (NSI) by internal body fluids can transmit serious pathogens like HIV. Considering Principles of personal and occupational care, plays an important role in prevention of such events. Case presentation A health worker suffered needle stick injury by aqueous humor of a PCR-positive HIV patient while he was recapping needle despite necessary preparations. Conclusions NSI by Aqueous humor which is secreted from blood, can theoretically transmit blood borne pathogens like HIV. Nevertheless, there is neither any report of aqueous humor NSI nor HIV transmission in this way. Based on our best knowledge this case is the first report represents HIV+ aqueous humor NSI and further evidence is required. Considering literature, we can not conclude whether there was a need for PEP in our case.

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