Mutación DGAT1 en dos hermanas con falla de medro: reporte de caso / DGAT1 mutation in two sisters with failure to thrive: a case report

Las diarreas y enteropatías congénitas (CODE por su sigla en inglés) son un grupo de trastornos monogénicos que se han descrito en los últimos años. Dentro de las CODE, la mutación del gen de la diacilglicerol o-aciltransferasa 1 (DGAT1) es un trastorno enzimático poco común asociado con diarrea crónica grave de aparición temprana. El objetivo es presentar a dos hermanas que consultaron por diarrea crónica, retraso en el crecimiento, vómitos e hipoalbuminemia en la primera infancia. En ambas pacientes se encontró un compuesto heterocigota de la mutación del DGAT1. Esta mutación se describió previamente en la población asiática; sin embargo, estas son las dos primeras pacientes en tener esta mutación en la población latinoamericana. Estos dos casos pueden ampliar nuestro conocimiento sobre las diarreas congénitas en general y las características clínicas de los pacientes con mutaciones en DGAT1 en particular.

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and hypoalbuminemia in early childhood. A compound heterozygous DGAT1 mutation was found in both patients. This mutation was previously described in the Asian population; however, these are the first 2 patients to show this mutation in the Latin American population. These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular.

DGAT1 mutation in two sisters with failure to thrive: a case report. / Mutación DGAT1 en dos hermanas con falla de medro: reporte de caso.

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that have been described in recent years. Within the CODEs, the mutation in the diacylglycerol O-acyltransferase 1 (DGAT1) gene is a rare enzyme disorder associated with severe, early-onset chronic diarrhea. Our objective is to describe the case of 2 sisters who consulted for chronic diarrhea, growth retardation, vomiting, and hypoalbuminemia in early childhood. A compound heterozygous DGAT1 mutation was found in both patients. This mutation was previously described in the Asian population; however, these are the first 2 patients to show this mutation in the Latin American population. These 2 cases may expand our knowledge about congenital diarrhea in general and the clinical characteristics of patients with DGAT1 mutations in particular.

Las diarreas y enteropatías congénitas (CODE por su sigla en inglés) son un grupo de trastornos monogénicos que se han descrito en los últimos años. Dentro de las CODE, la mutación del gen de la diacilglicerol o-aciltransferasa 1 (DGAT1) es un trastorno enzimático poco común asociado con diarrea crónica grave de aparición temprana. El objetivo es presentar a dos hermanas que consultaron por diarrea crónica, retraso en el crecimiento, vómitos e hipoalbuminemia en la primera infancia. En ambas pacientes se encontró un compuesto heterocigota de la mutación del DGAT1. Esta mutación se describió previamente en la población asiática; sin embargo, estas son las dos primeras pacientes en tener esta mutación en la población latinoamericana. Estos dos casos pueden ampliar nuestro conocimiento sobre las diarreas congénitas en general y las características clínicas de los pacientes con mutaciones en DGAT1 en particular.

Changing patterns of buccal manifestations in AIDS.

INTRODUCTION: Since the new antiviral drugs, e.g. protease inhibitors, arrived for the treatment of HIV-infected patients, the main oral infections associated with HIV disease have been brought under wider control. MATERIAL AND METHOD: We examined 214 HIV-1 infected patients, that were in-patients or presented for consultation at the ENT department of the Hospital das Clinicas (São Paulo, University Medical School), between January 1996 and November 1998. We review the different disorders which may affect the buccal cavity of HIV patients, 57 patients (26.6%). We divided the patients into two groups to compare the differences in appearance of oral lesions in those ones receiving two or three antiviral drugs. We had 53 patients presenting with oral lesions, the majority of them from the group receiving two drugs. RESULTS: The "P" value test was used and we concluded that there was a significant correlation between the use of triple antiviral therapy and a decrease of buccal lesions in HIV-infected patients.

The use of ultrasound evaluation in the diagnosis of peritonsillar abscess.

Peritonsillar Abscess (PTA) and Peritonsillar Cellulitis (PTC) are very similar clinical conditions. The differential diagnosis between them is made by needle aspiration, a very painful and invasive method. This study was performed at the Department of Otolaryngology at the Clinical Hospital of São Paulo University Medical School. It's aim was to evaluate the use of ultrasound as a noninvasive and inexpensive method of diagnosis, differentiating abscess from cellulitis. Twenty-one consecutive patients with a clinical diagnosis of peritonsillar infection were evaluated in the emergency service with a probable diagnosis of PTA. These patients were evaluated with intraoral and percutaneous ultrasound. Needle aspiration was used to compare and confirm the diagnosis. The sensitivity was 92.3% and specificity was 62.3%. The authors conclude that ultrasound is a good method to evaluate the differences between PTA and PTC.

Use of itraconazole in the treatment of mucocutaneous leishmaniasis: a pilot study.

OBJECTIVE: Mucocutaneous leishmaniasis is widely distributed in Brazil, with Leishmania (Viannia) braziliensis being the major etiologic agent. The currently recommended therapy is limited by its parenteral use, high toxicity, and variable efficacy. A clinical pilot study was conducted to analyze itraconazole as an oral alternative for the treatment of mucocutaneous leishmaniasis. METHODS: Ten patients were enrolled to receive 4 mg/kg per day (up to 400 mg/d) itraconazole for 6 weeks on an outpatient regimen. Diagnosis was based on clinical otorhinolaryngologic examination, followed by a specific serologic reaction, the Montenegro test and pathologic analysis with immunohistochemical reaction. Healing of the lesions was confirmed by clinical otorhinolaryngologic examination. Side effects were monitored by general clinical assessment, hemoglobin determination, leukocyte counts, and liver function tests, all performed before, during, and 1 month after the end of treatment. RESULTS: Six of 10 patients presented healed lesions 3 months after treatment, with a sustained therapeutic response for at least a median period of 14.5 months (range, 12-18 mo). Side effects were not observed. CONCLUSIONS: This pilot study demonstrated that itraconazole can be an effective and well-tolerated alternative for the treatment of mucocutaneous leishmaniasis. Further randomized studies and double blind controlled trials are needed to assess the benefits of this drug in the treatment of mucocutaneous leishmaniasis.