scholarly journals A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2012 ◽  
Vol 12 (1) ◽  
Author(s):  
Antonio Pisani ◽  
Massimo Imbriaco ◽  
Carmela Zizzo ◽  
Giuseppe Albeggiani ◽  
Paolo Colomba ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Female Patient ◽  
Gla Gene

scholarly journals Myeloid bodies caused by COQ2 mutation: a case with the coincidence of COQ2 nephropathy and IgA nephropathy

2021 ◽  
Author(s):  
Hai-Feng Ni ◽  
Yan Yang ◽  
Chun-Qing Li ◽  
Tong-Zhou Zhou ◽  
Bi-Cheng Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Iga Nephropathy ◽  
Curative Effect ◽  
Myeloid Bodies ◽  
Cationic Amphiphilic Drugs ◽  
First Case ◽  
Amphiphilic Drugs ◽  
Gla Gene ◽  
Coq10 Supplementation

Abstract IgA nephropathy (IgAN) combined with myeloid bodies have been reported in Fabry disease (FD). However, we excluded the diagnosis of FD by no mutation in GLA gene. And she denied the use of cationic amphiphilic drugs. Interestingly, we identified a novel missense mutation for COQ2, which can cause COQ2 mutation associated nephropathy. The patient we reported also had heteromorphic mitochondria, and a good curative effect after CoQ10 supplementation. Combined these, this patient was diagnosed with COQ2 nephropathy and IgAN. To our knowledge, this is the first case report that COQ2 nephropathy with pathologic manifestations of myeloid body in podocytes.

Healing Of A Large Osteolytic Mandibular Lesion – A Case Report

2018 ◽  
Author(s):  
Ingrid Różyło-Kalinowskav ◽  
Karolina Sidor
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Surgical Approach ◽  
Orthodontic Treatment ◽  
Incidental Finding ◽  
Osteolytic Lesion ◽  
Panoramic Radiograph ◽  
Endodontic Treatment ◽  
Osteolytic Lesions

The purpose of this article was to present a case report of 11–year old female patient with a large osteolytic mandibular lesion which healed after endodontic treatment. The patient was referred for radio diagnostics due to an incidental finding of a large osteolytic lesion of the area of the left lower first and second premolars in the panoramic radiograph taken before orthodontic treatment. CBCT was performed and the patient asked to have teeth 33-35 treated by endodontics before surgery. The patient missed the surgical appointment and when she reappeared several months later, the lesion showed signs of healing thus surgery were aborted. The presented case testifies to the observation that even large osteolytic lesions can heal after endodontic treatment without surgical approach.

A Diagnosed Case of COVID-19 Treated with Homoeopathy: A Case Report

2020 ◽  
Vol 33 (03) ◽  
pp. 241-243
Author(s):  
Rajesh Kovilacar ◽  
Pankhuri Misra
Keyword(s):  
Public Health ◽  
Case Report ◽  
Sore Throat ◽  
Female Patient ◽  
Public Health Emergency ◽  
Positive Patient ◽  
Number Of Patients ◽  
Precautionary Measures ◽  
Day By Day

Abstract Introduction The outbreak of coronavirus disease 2019 (COVID-19) has been declared as public health emergency of international concern. India is also facing this crisis with increasing number of patients being reported day by day. Here, we present a case report of COVID-19-positive patient treated with homoeopathy. Case Profile A 60-year-old female patient with fever for 4 days, cough and difficulty in breathing, headache, sore throat, loose stools and frequent urination with burning and generalised weakness for 7 days was considered for treatment in the present study. Based on the symptomatology, Arsenicum album 30 and Bryonia alba 30 were prescribed to her. Conclusion A patient of COVID-19 was successfully treated by homoeopathic medicines based on symptom similarity. Individualised homoeopathic intervention with precautionary measures can be an answer to the ongoing crisis.

scholarly journals A rare case of eight multiple primary malignant neoplasms in a female patient: A case report and review of the literature

2014 ◽  
Vol 9 (2) ◽  
pp. 587-590 ◽  
Author(s):  
JIEMIN ZHAO ◽  
YAN TAN ◽  
YUGANG WU ◽  
WEI ZHAO ◽  
JUN WU ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Rare Case ◽  
Malignant Neoplasms ◽  
Review Of The Literature ◽  
Multiple Primary

scholarly journals Ulnar Nerve Compression in Guyon’s Canal by Ulnar Artery Cystic Adventitial Disease: A Case Report

2021 ◽  
pp. 33-38
Author(s):  
João Ribeiro Afonso ◽  
João Carvas ◽  
Miguel Quesado ◽  
João Vasconcelos ◽  
José Vidoedo ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Ulnar Nerve ◽  
Upper Limb ◽  
Popliteal Artery ◽  
Ulnar Artery ◽  
Work Activities ◽  
Ulnar Nerve Compression ◽  
History Of ◽  
Mucinous Cyst

Cystic adventitial disease is a condition where mucinous cyst(s) develop within the adventitia of blood vessels, especially arteries. The most affected vessel is the popliteal artery while the upper limb vasculature is seldom involved. To our knowledge, there are only 2 articles reporting this disease in the ulnar artery. We present a case of a 52-year-old female patient, a manual worker in a clothing factory, with a month history of increasing pain in her right wrist and gradual weakness that incapacitated her for work activities. She was finally treated surgically and an adventitial cyst of the ulnar artery compressing the ulnar nerve was diagnosed.

Female child with Fabry disease and two other genetic diseases, spherocytosis, and congenital hypothyroidism, A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Congenital Hypothyroidism ◽  
Genetic Diseases ◽  
Female Child

scholarly journals Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology

2016 ◽  
Vol 311 (5) ◽  
pp. F1015-F1024 ◽  
Author(s):  
Ester M. Pereira ◽  
Anatália Labilloy ◽  
Megan L. Eshbach ◽  
Ankita Roy ◽  
Arohan R. Subramanya ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Human Kidney ◽  
Premature Death ◽  
Antibody Array ◽  
Cell Models ◽  
Lysosomal Storage ◽  
Protein Levels ◽  
Gla Gene ◽  
Fabry Nephropathy ◽  
And Control

Fabry nephropathy is a major cause of morbidity and premature death in patients with Fabry disease (FD), a rare X-linked lysosomal storage disorder. Gb3, the main substrate of α-galactosidase A (α-Gal A), progressively accumulates within cells in a variety of tissues. Establishment of cell models has been useful as a tool for testing hypotheses of disease pathogenesis. We applied CRISPR/Cas9 genome editing technology to the GLA gene to develop human kidney cell models of FD in human immortalized podocytes, which are the main affected renal cell type. Our podocytes lack detectable α-Gal A activity and have increased levels of Gb3. To explore different pathways that could have distinct patterns of activation under conditions of α-gal A deficiency, we used a high-throughput antibody array to perform phosphorylation profiling of CRISPR/Cas9-edited and control podocytes. Changes in both total protein levels and in phosphorylation status per site were observed. Analysis of our candidate proteins suggests that multiple signaling pathways are impaired in FD.

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