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1.
AACE Clin Case Rep ; 9(4): 125-127, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37520764

RESUMO

Background/Objective: Wolfram syndrome (WS) is a rare genetic disorder, in which patients develop early-onset diabetes mellitus (DM), optic nerve atrophy, and neurodegeneration, which has no specific treatment available. Here, we report 2 brothers treated with an insulin pump to manage the alterations of the glycemic levels due to the DM. Case Report: We present the case of 2 siblings diagnosed with Wolfram syndrome 1, they presented with typical endocrinological and neurodegenerative early manifestations, one brother was treated with a sensor-augmented insulin infusion system, and the other with an insulin pump. Both reached a better metabolic state and had improved quality of life. Discussion: The management of WS is still a challenge; however, the use of a sensor-augmented insulin infusion system and the information that it provides may offer better care to patients who require frequent monitoring and adjustments in their treatment. It has been reported that the neurodegenerative progression of WS is also associated with high glucose peaks; therefore, it is necessary to control it, even when it is hard due to the difficult-to-manage DM. There is only 1 previous case report of WS with insulin pump that describes the benefits of continuous subcutaneous insulin infusion and tight metabolic control during pregnancy. Conclusion: The use of insulin pumps may be an effective treatment for DM in WS patients, mainly in terms of improving the prognosis of difficult-to-manage DM.

2.
Surg Technol Int ; 31: 273-275, 2017 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-29301169

RESUMO

Pediatric septic arthritis can be a devastating disease. Often, the diagnosis can be challenging as autoimmune and infectious causes may present in a similar fashion. Thus, we present the case of a five-year-old male patient, from the Pacific coast of Colombia, with chronic morning knee pain and stiffness thought to be caused by an autoimmune disease. He presented with a mild effusion of the left knee, a flexed posture, and limited extension to 25°. Inflammatory markers demonstrated an infectious pattern. Autoimmune markers were negative. A diagnostic arthrotomy and lavage was conducted followed by microbial cultures, cell count, and gram staining. Polymerase chain reaction (PCR) of the joint fluid demonstrated mycobacterium tuberculosis. The patient was treated according to the national protocols and continued on to complete resolution.


Assuntos
Artrite Infecciosa , Mycobacterium tuberculosis , Tuberculose Osteoarticular , Antibacterianos/uso terapêutico , Artrite Infecciosa/diagnóstico por imagem , Artrite Infecciosa/tratamento farmacológico , Artrite Infecciosa/microbiologia , Humanos , Lactente , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/microbiologia , Articulação do Joelho/fisiopatologia , Masculino , Tuberculose Osteoarticular/diagnóstico por imagem , Tuberculose Osteoarticular/tratamento farmacológico , Tuberculose Osteoarticular/microbiologia
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