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1.
Ann Med Surg (Lond) ; 86(4): 2253-2255, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38576978

ABSTRACT

Introduction and importance: Amyloidosis is an infiltrative disease caused by the deposition of abnormal proteins. While cardiac amyloidosis is relatively common, gastrointestinal (GI) tract involvement is less frequent. In this case, the authors report a delayed diagnosis of systemic amyloidosis presenting mainly with digestive symptoms. Case presentation: An 81-year-old male presented with the complaint of persistent diarrhoea for over a year and the progressive development of edemas during the last 4 months. Echocardiogram findings revealed the presence of the characteristic sparkling sign. The diagnosis of amyloidosis was confirmed by histopathological biopsies taken from the duodenum. Serum electrophoresis findings strongly suggested the possibility of plasma cell dyscrasia. Clinical discussion: What distinguishes this case is that the suspicion of amyloidosis as the underlying cause of the diarrhoea did not arise until an incidental echocardiogram revealed cardiac hypertrophy and a sparkling appearance. Conclusion: This case reminds us to consider amyloidosis as a possible underlying cause for unexplained gastrointestinal symptoms such as diarrhoea, especially in bad economic situations where the diagnosis of rare diseases may be delayed.

2.
BMC Pediatr ; 23(1): 166, 2023 04 11.
Article in English | MEDLINE | ID: mdl-37038158

ABSTRACT

BACKGROUND: This case report describes a cystic fibrosis case after 7 years of a presumed diagnosis of celiac disease without confirming laboratory tests and biopsies. Both cystic fibrosis and celiac disease cause malnutrition, malabsorption, and failure to thrive. Also, the occurrence of cystic fibrosis in celiac disease patients is higher than in the normal population. Therefore, the differentiation between the two diseases might be challenging. This article highlights the reason for the confusion between cystic fibrosis and celiac disease and emphasizes the importance of not skipping the necessary investigations no matter how difficult it is to perform them. CASE PRESENTATION: This report details the case history of a patient presumed to have celiac disease for 7 years without confirming investigations. He developed multiple respiratory infections and weight loss throughout the 7 years but was only diagnosed with cystic fibrosis after hospitalization for gradual abdominal distension and productive cough. Chest CT showed atelectasis in the right upper lobe, tree-in-bud sign on both sides, and right periumbilical mass with several enlargements in the mediastinal nodes. Ascites paracentesis revealed a high SAAG gradient and low-protein fluid. The sweat chloride test resulted in a chloride level of 90 mEq/L, which confirmed the cystic fibrosis diagnosis. Subsequent genetic testing revealed the rare G85E mutation. CONCLUSION: This report highlights the potential for diagnostic confusion between cystic fibrosis and celiac disease. Also, it reminds physicians about the importance of taking a detailed medical history and performing the essential investigations no matter how difficult it is to do them. Finally, it emphasizes the need to verify the patient's previous medical history in case there is no official documentation of his case. This should be considered particularly in rural areas in low-income countries where the possibility of medical malpractice should not be forgotten.


Subject(s)
Celiac Disease , Cystic Fibrosis , Male , Humans , Cystic Fibrosis/complications , Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , Celiac Disease/complications , Celiac Disease/diagnosis , Chlorides/analysis , Syria , Cystic Fibrosis Transmembrane Conductance Regulator/genetics
3.
J Mol Model ; 28(10): 320, 2022 Sep 17.
Article in English | MEDLINE | ID: mdl-36114900

ABSTRACT

A group of aromatic compounds (benzene, naphthalene, anthracene, and tetracene) was selected to design four sheets of graphene based on quantum mechanics calculations using the density function theory (DFT), leaning on the cyclic polymerization mechanism. Theoretical results offer that graphene-I is the most stable depending on the values of EHOMO (- 4.91601 eV), gap energy (2.76549 eV), and total energy (- 3447.42377654 a.u.). The thermodynamic theoretical outcome showed that all reactions are exothermic and spontaneous. Graphene is a two-dimensional plane, so the nanotube design process is with two possibilities: the first about the x-axis (horizontal (H)) and the second about the y-axis (vertical (V)). The theoretical results gave two groups: the first gave more stability to graphene at the expense of the nanotubes prepared from it, namely, graphene-I and the second gave less stability to graphene compared to the nanotubes prepared from it, namely, graphene-II, graphene-III, and graphene-IV), depending on the energy of HOMO and gap energy. The value of gap energy ranged (from 1.10370 to 1.79922 eV) for the following compounds (graphene-II, nanotube-II-V, nanotube-III-H, and nanotube-IV-V), making those important compounds in solar cells. These theoretical results showed the possibility of preparing graphene and then nanotubes from aromatic compounds, giving the benefit of doubling the preparation of new compounds with important applications and at the same time eliminating aromatic compounds harmful to the environment.

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