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1.
Pediatric Infectious Disease Society of the Philippines Journal ; : 5-69, 2023.
Article in English | WPRIM | ID: wpr-984382

ABSTRACT

Executive Summary@#Leptospirosis is a disease prevalent mostly in tropical and subtropical countries. Its potential to be a concerning problem emerges with the onset of the rainy season, as flooding and heavy rainfall facilitate disease epidemics. Among those at risk of contracting the disease are field workers, veterinarians, sewer workers, military personnel and those who swim or wade in contaminated waters. In the absence of an existing evidence-based guideline for the pediatric age group, this first edition hopes to standardize approach to diagnosis, antibiotic management, and prevention of leptospirosis. The intended users are primary care physicians, family medicine physicians, pediatricians, and other healthcare workers involved in the management of leptospirosis in children. Ten priority questions were identified by a group of experts composed of an oversight committee, a guideline writing panel, and a technical review committee. The GRADE methodology was used to determine the quality of evidence of each recommendation. The draft recommendations (summarized below) were finalized after these were presented to and voted on by a panel of stakeholders.

2.
Journal of Cancer Prevention ; : 71-82, 2021.
Article in English | WPRIM | ID: wpr-891338

ABSTRACT

The Division of Cancer Prevention of the National Cancer Institute (NCI) and the Office of Disease Prevention of the National Institutes of Health co-sponsored the Translational Advances in Cancer Prevention Agent Development Meeting on August 27 to 28, 2020. The goals of this meeting were to foster the exchange of ideas and stimulate new collaborative interactions among leading cancer prevention researchers from basic and clinical research; highlight new and emerging trends in immunoprevention and chemoprevention as well as new information from clinical trials; and provide information to the extramural research community on the significant resources available from the NCI to promote prevention agent development and rapid translation to clinical trials. The meeting included two plenary talks and five sessions covering the range from pre-clinical studies with chemo/immunopreventive agents to ongoing cancer prevention clinical trials. In addition, two NCI informational sessions describing contract resources for the preclinical agent development and cooperative grants for the Cancer Prevention Clinical Trials Network were also presented.

3.
Asian Journal of Andrology ; (6): 236-239, 2021.
Article in English | WPRIM | ID: wpr-879758

ABSTRACT

Penile fracture (PF) is a surgical emergency. Given its rarity, we queried a national cohort over an 11-year period to study the temporal and demographic variations in presentation, evaluation, and management of patients with PF compared with a cohort of control patients. The National Inpatient Sample was queried between the years 2005 and 2016 for patients with a diagnosis of PF. Appendectomy patients were selected as a control cohort, given the non-discriminatory nature of this disease. Clinical and demographic data of the patients were compared with that of controls. Presenting symptoms, rates of surgical repair, and rates of associated surgical procedures were evaluated in the PF cohort. During the study period, 5802 patients were hospitalized for PF. The annual incidence of PF remained unchanged at 1.0-1.8 cases per 100 000 hospitalizations over the study period. Compared with the control cohort, PF patients were more likely to be younger (38.7 years vs 41.2 years, P ≤ 0.001), have lower rates of comorbidities except erectile dysfunction (1.4% vs 0.1%, P ≤ 0.001), and were more likely of Black race (25.4% vs 6.2%, P ≤ 0.001). Notably, PF patients had significantly higher rates of substance abuse (26.4% vs 18.1%, P ≤ 0.001), despite no difference in the diagnosed psychiatric disorders. PF rarely presented with hematuria (3.5%); however, urethral evaluation was performed in 23.1%, most commonly with cystoscopy (19.2%). PF occurs more commonly in a younger, healthier male population, and among minorities. Importantly, rates of substance abuse appear to be higher in the PF cohort compared with those of controls.

5.
Journal of Cancer Prevention ; : 71-82, 2021.
Article in English | WPRIM | ID: wpr-899042

ABSTRACT

The Division of Cancer Prevention of the National Cancer Institute (NCI) and the Office of Disease Prevention of the National Institutes of Health co-sponsored the Translational Advances in Cancer Prevention Agent Development Meeting on August 27 to 28, 2020. The goals of this meeting were to foster the exchange of ideas and stimulate new collaborative interactions among leading cancer prevention researchers from basic and clinical research; highlight new and emerging trends in immunoprevention and chemoprevention as well as new information from clinical trials; and provide information to the extramural research community on the significant resources available from the NCI to promote prevention agent development and rapid translation to clinical trials. The meeting included two plenary talks and five sessions covering the range from pre-clinical studies with chemo/immunopreventive agents to ongoing cancer prevention clinical trials. In addition, two NCI informational sessions describing contract resources for the preclinical agent development and cooperative grants for the Cancer Prevention Clinical Trials Network were also presented.

8.
Article | IMSEAR | ID: sea-210051

ABSTRACT

The study is aimed atassessingthe knowledge, attitude and practice of peoplein Ija-Gwari and Kofa in Niger State towards onchocerciasis, structured questionnaires wereadministered to 300 respondents comprising 150 from each of the village, which is about 5% of the total population size of the two villages. The sampling technique used to administer the questionnaire was systemic sampling method. In Kofa and Ija-Gwari village, a high proportion 74 (49.3%) and 80 (53.3%) respectively thought it was both a blood and an eye infection while few of the respondents 8 (5.3%) and 2 (1.45%) respectively claimed to have no idea of river blindness. In Kofa village, out of 150 respondents, 146 (97.3%) said they accepted taking the drug and 4 (2.7%) did not accept taking the drug. In Ija-Gwari village out of 150 respondents, 144 (95.9%) said theyaccepted taking the drug and 6 (4.1%) did not accept taking the drug. In Kofa village, outof the 150 respondents, 148 (98.7%) use ivermectin as the type of treatment, while In Ija-Gwari village, out of the 150 respondents 149 (99.3%) use ivermectin as the type of treatment.Since lack of knowledge perpetuates disease, appropriate health education strategy will be necessary to improve the situation

9.
Pediatric Infectious Disease Society of the Philippines Journal ; : 37-46, 2019.
Article in English | WPRIM | ID: wpr-962188

ABSTRACT

Objective@#To determine the clinical profile, microbiology, management, and outcome of pediatric brain abscess at a tertiary hospital in the Philippines from 2012 to 2016.@*Methods@#A retrospective study and review of medical records of 50 patients aged 18 years old and below diagnosed with brain abscess from 2012 to 2016 was performed. @*Results@#Majority of patients affected were 10 years old and below (74%), with no gender predilection, and mostly underweight/wasted (68%). Coverage for common vaccine-preventable pathogens was low (38% for H. influenzae type b, 2% for S. pneumoniae). Most common signs and symptoms on admission were fever (62%), vomiting (50%), and headache (50%). The top pre-disposing condition was congenital heart disease (46%), mostly Tetralogy of Fallot (33%). Methicillin-resistant Staphylococcus aureus (MRSA) was isolated in 38%) of cases. Sterile cultures comprised 68% of cases. There were two cases of tuberculous abscess. Empiric antibiotics administered for patients seen in 2012 were penicillin G and chloramphenicol, with a shift to a third-generation cephalosporin and metronidazole in the succeeding years. Aspiration with or without drainage was performed in majority of cases (85%). Six underwent complete excision and had a shorter mean length of stay of 57 days, and a lower morbidity rate of 17% with no mortalities. The overall mean length of hospital stay was 65 days. Residual neurologic deficit was observed in 28%, mostly extremity weakness. Mortality rate was 6.8%. No statistical association was found between a predisposing condition and affectation of a particular area of the brain using the Fisher exact test. @*Conclusion@#There should be a high index of suspicion for brain abscess among patients with pre-disposing conditions (i.e. paracranial infection, cyanotic congenital heart disease) presenting with fever, headache, and vomiting. Common etiologic agents in this study were MRSA and Enterococcus. The isolates were sensitive to the antibiotics recommended for empiric therapy, particularly parenteral third generation cephalosporin + metronidazole for 6 to 8 weeks. Patients with sterile cultures were also continued on this regimen. With the high resistance rates to oxacillin, vancomycin should be considered for abscesses arising from paracranial infections and for those with breaks in the skull post-trauma. There was an overall reduction in mortality due to improved imaging studies andidentification of pathogens for definitive treatment, as well as improved surgical techniques over time. A considerable number of affected children however had neurologic deficits upon discharge.


Subject(s)
Length of Stay , Methicillin-Resistant Staphylococcus aureus
10.
An. acad. bras. ciênc ; 90(1): 295-309, Mar. 2018. tab, graf
Article in English | LILACS | ID: biblio-886909

ABSTRACT

ABSTRACT Accurate forest inventory is of great economic importance to optimize the entire supply chain management in pulp and paper companies. The aim of this study was to estimate stand dominate and mean heights (HD and HM) and tree density (TD) of Pinus taeda plantations located in South Brazil using in-situ measurements, airborne Light Detection and Ranging (LiDAR) data and the non- k-nearest neighbor (k-NN) imputation. Forest inventory attributes and LiDAR derived metrics were calculated at 53 regular sample plots and we used imputation models to retrieve the forest attributes at plot and landscape-levels. The best LiDAR-derived metrics to predict HD, HM and TD were H99TH, HSD, SKE and HMIN. The Imputation model using the selected metrics was more effective for retrieving height than tree density. The model coefficients of determination (adj.R2) and a root mean squared difference (RMSD) for HD, HM and TD were 0.90, 0.94, 0.38m and 6.99, 5.70, 12.92%, respectively. Our results show that LiDAR and k-NN imputation can be used to predict stand heights with high accuracy in Pinus taeda. However, furthers studies need to be realized to improve the accuracy prediction of TD and to evaluate and compare the cost of acquisition and processing of LiDAR data against the conventional inventory procedures.


Subject(s)
Trees/growth & development , Models, Statistical , Pinus taeda/growth & development , Remote Sensing Technology/methods , Algorithms , Brazil , Environmental Monitoring/methods , Environmental Monitoring/statistics & numerical data , Forestry/methods , Data Accuracy
11.
Indian Heart J ; 2018 Jan; 70(1): 75-81
Article | IMSEAR | ID: sea-191744

ABSTRACT

Objective Diastolic dysfunction is common in hypertrophic cardiomyopathy (HCM) and hypertensive heart disease (HHD), but its relationships with left ventricular (LV) parameters have not been well studied. Our objective was to assess the relationship of various measures of diastolic function, and maximum left ventricular wall thickness (MLVWT) and left ventricular mass index (LVMI) in HCM, HHD and normal controls using cardiac magnetic resonance imaging (CMR). We also assessed LV parameters and diastolic function in relation to late gadolinium enhancement (LGE) and right ventricular (RV) hypertrophy in HCM. Methods 41 patients with HCM, 21 patients with HHD and 20 controls were studied. Peak filling rate (PFR), time to peak filling (TPF), MLVWT and LVMI were measured using CMR. LGE and RV morphology were assessed in HCM patients. Results MLVWT correlated with TPF in HCM (r = 0.38; p = 0.02), HHD (r = 0.58; p = 0.01) and controls (r = 0.54; p = 0.01); correlation between MLVWT and TPF was weaker in HCM than HHD. LVMI did not correlate with diastolic function. In HCM, LGE extent correlated with MLVWT (τ = 0.41; p = 0.002) and with TPF (τ = 0.29; p = 0.02). The HCM patients with RV hypertrophy had higher MLVWT (p < 0.001) and TPF (p = 0.03) than patients without RV hypertrophy. Conclusion MLVWT correlates with diastolic function (TPF) in HCM, HHD and controls. LVMI did not show significant correlation with TPF. The diastolic dysfunction in HCM is not entirely explained by wall thickening. LGE and RV involvement are associated with worse LV diastolic function, suggesting that these may be markers of more severe underlying myocardial disarray and fibrosis that contribute to diastolic dysfunction.

12.
The World Journal of Men's Health ; : 4-14, 2018.
Article in English | WPRIM | ID: wpr-742350

ABSTRACT

Ischemic priapism is a urological emergency that has been associated with long-standing and irreversible adverse effects on erectile function. Studies have demonstrated a linear relationship between the duration of critically ischemic episodes and the subsequent development of corporal fibrosis and irreversible erectile function loss. Placement of a penile prosthesis is a well-established therapeutic option for the management of erectile dysfunction secondary to ischemic priapism, and will be the focus of this review. Review of the current literature demonstrates a growing utilization of penile prostheses in the treatment of erectile dysfunction secondary to ischemic priapism. Unfortunately, there is a paucity of randomized-controlled trials describing the use of prosthesis in ischemic priapism. As a result, there is a lack of consensus regarding the type of prosthesis (malleable vs. inflatable), timing of surgery (acute vs. delayed), and anticipated complications for each approach. Both types of prostheses yielded comparable complication rates, but the inflatable penile prosthesis have higher satisfaction rates. Acute treatment of priapism was associated with increased risk of prosthetic infection, and could potentially cause psychological trauma, whereas delayed implantation was associated with greater corporal fibrosis, loss of penile length, and increased technical difficulty of implantation. The paucity of high-level evidence fuels the ongoing discussion of optimal use and timing of penile prosthesis implantation. Current guidance is based on consensus expert opinion derived from small, retrospective studies. Until more robust data is available, a patient-centered approach and joint decision-making between the patient and his urologist is recommended.


Subject(s)
Humans , Male , Consensus , Emergencies , Erectile Dysfunction , Expert Testimony , Fibrosis , Joints , Penile Implantation , Penile Prosthesis , Priapism , Prostheses and Implants , Psychological Trauma , Retrospective Studies
13.
Article in English | AIM | ID: biblio-1270845

ABSTRACT

Objectives: To investigate the prevalence of post-stroke depression (PSD), its associated factors and impact on quality of life (QoL) among outpatients in a Nigerian hospital. Methods: This cross-sectional study was carried out among 140 adults made up of 70 stroke survivors and matched controls with s table hypertension. Participants were administered questionnaires to profile their socio-demographic and clinical characteristics. Subsequently, they were assessed with the modified mini-mental state examination (MMSE), modified Rankin Scale (mRS), schedule for clinical assessment in neuropsychiatry (SCAN) and World Health Organization Quality of Life-BREF (WHOQoL-BREF). Results: The mean ages (± s.d.) of stroke survivors and controls were 57.43 (± 9.67) years and 57.33 (± 9.33) years, respectively. Majority of stroke survivors (n = 55 [78.6%]) had infarctive stroke, and 37 (52.9%) had right hemispheric lesion. Sixteen (22.9%) stroke survivors had PSD, with moderate to severe depression (F32.1) being the most prevalent, while none of the controls was clinically depressed. PSD correlated positively with monthly health bill above 10000 naira ($61), significant post-stroke disability and poorer scores on all QoL domains (p < 0.05). Conclusion: Depression was 20-fold prevalent in stroke survivors compared to controls with s table hypertension, and sevenfold the life-time prevalence reported among adult general population in Nigeria. Furthermore, increased health care bills per month, significant post-stroke disability and poorer QoL indicated survivors more likely to have depression. Findings in this study support the need to pay closer attention to psychosocial needs of stroke survivors to improve well-being. Future longitudinal study on psychosocial burden of stroke is warranted


Subject(s)
Adult , Depression , Nigeria , Outpatients , Patients , Quality of Life , Stroke
14.
An. acad. bras. ciênc ; 89(3): 1895-1905, July-Sept. 2017. tab, graf
Article in English | LILACS | ID: biblio-886731

ABSTRACT

ABSTRACT Basal area (BA) is a good predictor of timber stand volume and forest growth. This study developed predictive models using field and airborne LiDAR (Light Detection and Ranging) data for estimation of basal area in Pinus taeda plantation in south Brazil. In the field, BA was collected from conventional forest inventory plots. Multiple linear regression models for predicting BA from LiDAR-derived metrics were developed and evaluated for predictive power and parsimony. The best model to predict BA from a family of six models was selected based on corrected Akaike Information Criterion (AICc) and assessed by the adjusted coefficient of determination (adj. R²) and root mean square error (RMSE). The best model revealed an adj. R²=0.93 and RMSE=7.74%. Leave one out cross-validation of the best regression model was also computed, and revealed an adj. R² and RMSE of 0.92 and 8.31%, respectively. This study showed that LiDAR-derived metrics can be used to predict BA in Pinus taeda plantations in south Brazil with high precision. We conclude that there is good potential to monitor growth in this type of plantations using airborne LiDAR. We hope that the promising results for BA modeling presented herein will stimulate to operate this technology in Brazil.


Subject(s)
Forests , Pinus taeda/growth & development , Tropical Climate , Brazil , Biomass , Remote Sensing Technology , Models, Theoretical
15.
The World Journal of Men's Health ; : 134-145, 2017.
Article in English | WPRIM | ID: wpr-222840

ABSTRACT

Peyronie's disease (PD) is an inflammatory disorder characterized by an abnormal collagen deposition in the tunica albuginea of the penis, leading to fibrous and non-compliant plaques that can impede normal erection. Although pharmacological treatments are available, only intralesional injection therapy and surgical reconstruction have demonstrated tangible clinical efficacy in the management of this condition. Intralesional injection of collagenase clostridium histolyticum (CCH) has come to the forefront of minimally invasive treatment of PD. In this review, the authors provide an update on the safety, efficacy, and indications for CCH. The efficacy of CCH will be assessed on the basis of improvement in the severity of penile fibrosis, curvature, and pain. Numerous well-designed clinical trials and post-approval studies involving more than 1,500 patients have consistently demonstrated the efficacy and tolerability of CCH in the treatment of PD. CCH significantly decreases penile curvature and plaque consistency, as well as improves quality of life. Post-approval studies continue to demonstrate the efficacy of CCH despite broader inclusion criteria for treatment, such as the case with acute phase disease and atypical plaque deformities (i.e., ventral plaques, hourglass narrowing). CCH continues to be the gold standard for non-surgical management of stable phase PD, in the absence of strong evidence supporting oral therapy agents and ongoing evaluation of extracorporeal shockwave therapy. However, recent studies are beginning to provide precedent for the use of CCH in the management of acute phase and atypical PD.


Subject(s)
Humans , Male , Collagen , Collagenases , Congenital Abnormalities , Fibrosis , Injections, Intralesional , Microbial Collagenase , Penile Induration , Penis , Quality of Life , Treatment Outcome , Urologic Diseases
16.
Clinics in Orthopedic Surgery ; : 131-134, 2015.
Article in English | WPRIM | ID: wpr-119046

ABSTRACT

Acromioclavicular (AC) and sternoclavicular (SC) septic arthritis with contiguous pyomyositis are rare, especially in immunocompetent individuals. We report a case of septic AC joint with pyomyositis of the deltoid and supraspinatus muscles and a separate case with septic SC joint with pyomysitis of the sternocleidomastoid muscle. Both patients had similar presentations of infections with Staphylococcus aureus and were successfully treated with surgical incision and drainage followed by prolonged antibiotic therapy.


Subject(s)
Adult , Female , Humans , Acromioclavicular Joint/microbiology , Anti-Bacterial Agents/administration & dosage , Arthritis, Infectious/diagnosis , Magnetic Resonance Imaging , Pyomyositis/diagnosis , Staphylococcal Infections/complications , Staphylococcus aureus , Sternoclavicular Joint/microbiology
17.
Asian Pacific Journal of Tropical Biomedicine ; (12): 1010-1017, 2015.
Article in Chinese | WPRIM | ID: wpr-950857

ABSTRACT

Objective: To evaluate the efficacy of deferiprone (DFP), 1-(N-acetyl-6-aminohexyl)-3-hydroxy-2-methylpyridin-4-one (CM1) or green tea extract (GTE) in enhancing expression of hepatic hepcidin1 (Hamp1) mRNA and relieving iron overload in β-globin knockout thalassemic mice. Methods: The β-globin knockout thalassemic mice were fed with a ferrocene-supplemented diet for 2 months and oral administration of deionized water, DFP (50 mg/kg), CM1 (50 mg/kg), GTE (50 mg epigallocatechin 3-gallate equivalent/kg), GTE along with DFP (50 mg/kg), and GTE along with CM1 (50 mg/kg) every day for 3 months. Levels of hepatic Hamp1 mRNA, plasma non-transferrin bound iron, plasma alanine aminotransferase activity and tissue iron content were determined. Results: All chelation treatments could reduce plasma non-transferrin bound iron concentrations. Additionally, hepatic Hamp1 mRNA expression was significantly up-regulated in the mice in a GTE + DFP combined treatment, correlating with a decrease in the plasma alanine aminotransferase activity and tissue iron deposition. Conclusions: The GTE + DFP treatment could ameliorate iron overload and liver oxidative damage in non-transfusion dependent β-thalassemic mice, by chelating toxic iron in plasma and tissues, and increasing hepcidin expression to inhibit duodenal iron absorption and iron release from hepatocytes and macrophages in the spleen. There is probably an advantage in giving GTE with DFP when treating patients with iron overload.

18.
Protein & Cell ; (12): 712-725, 2011.
Article in English | WPRIM | ID: wpr-757048

ABSTRACT

Spliceosomal RNAs are a family of small nuclear RNAs (snRNAs) that are essential for pre-mRNA splicing. All vertebrate spliceosomal snRNAs are extensively pseudouridylated after transcription. Pseudouridines in spliceosomal snRNAs are generally clustered in regions that are functionally important during splicing. Many of these modified nucleotides are conserved across species lines. Recent studies have demonstrated that spliceosomal snRNA pseudouridylation is catalyzed by two different mechanisms: an RNA-dependent mechanism and an RNA-independent mechanism. The functions of the pseudouridines in spliceosomal snRNAs (U2 snRNA in particular) have also been extensively studied. Experimental data indicate that virtually all pseudouridines in U2 snRNA are functionally important. Besides the currently known pseudouridines (constitutive modifications), recent work has also indicated that pseudouridylation can be induced at novel positions under stress conditions, thus strongly suggesting that pseudouridylation is also a regulatory modification.


Subject(s)
Animals , Base Sequence , Molecular Sequence Data , Nucleic Acid Conformation , Nucleotides , Metabolism , Oocytes , Cell Biology , Metabolism , Pseudouridine , Metabolism , RNA Precursors , Metabolism , RNA Splice Sites , RNA Splicing , RNA, Messenger , Genetics , Metabolism , RNA, Small Nuclear , Genetics , Metabolism , Ribonucleoproteins, Small Nuclear , Genetics , Metabolism , Saccharomyces cerevisiae , Genetics , Metabolism , Saccharomyces cerevisiae Proteins , Genetics , Metabolism , Spliceosomes , Genetics , Metabolism , Uridine , Metabolism , Xenopus , Genetics , Metabolism
19.
Genomics & Informatics ; : 63-69, 2010.
Article in English | WPRIM | ID: wpr-199711

ABSTRACT

Monofunctional biosynthetic peptidoglycan transglycosylase (MBPT) catalyzes the formation of the glycan chain in bacterial cell walls from peptidoglycan subunits: N-acetylglucosamine (NAG) and acetylmuramic acid (NAM). Bifunctional glycosyltransferases such as the penicillin binding protein (PBP) have peptidoglycan glycosyltransferase (PGT) on their C terminal end which links together the peptidoglycan subunits while transpeptidase (TP) on the N terminal end cross-links the peptide moieties on the NAM monosaccharide of the peptide subunits to create the bacterial cell wall. The singular function of MBPT resembles the C terminal end of PBP as it too contains and utilizes a similar PGT domain. In this article we analyzed the infectious and non infectious protein sequences of MBPT from 31 different strains of bacteria using a variety of bioinformatic tools. Motif analysis, dot-plot comparison, and phylogenetic analysis identified a number of significant differences between infectious and non-infectious protein sequences. In this paper we have made an attempt to explain, analyze and discuss these differences from an evolutionary perspective. The results of our sequence analysis may open the door for utilizing MBPT as a new target to fight a variety of infectious bacteria.


Subject(s)
Bacteria , Cell Wall , Glycosyltransferases , Muramic Acids , Penicillin-Binding Proteins , Penicillins , Peptidoglycan , Peptidoglycan Glycosyltransferase , Sequence Analysis
20.
Arq. bras. endocrinol. metab ; 52(8): 1350-1355, Nov. 2008. ilus, graf
Article in English | LILACS | ID: lil-503304

ABSTRACT

Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (PNDM) and several cases have been successfully treated with oral sulfonylureas. We report on the attempted transfer of insulin therapy to glibenclamide in a 4-year old child with PNDM and DEND syndrome, bearing a C166Y mutation in KCNJ11. An inpatient transition from subcutaneous NPH insulin (0.2 units/kg/d) to oral glibenclamide (1 mg/kg/d and 1.5 mg/kg/d) was performed. Glucose and C-peptide responses stimulated by oral glucose tolerance test (OGTT), hemoglobin A1c levels, the 8-point self-measured blood glucose (SMBG) profile and the frequency of hypoglycemia episodes were analyzed, before and during treatment with glibenclamide. Neither diabetes control nor neurological improvements were observed. We concluded that C166Y mutation was associated with a form of PNDM insensitive to glibenclamide.


As mutações ativadoras, heterozigóticas do gene KCNJ11 (Kir6.2) são a causa mais freqüente de diabetes melito neonatal permanente (DMNP) e a terapêutica oral com sulfoniluréias tem sido bem sucedida em muitos destes casos. Relatamos o processo de substituição da insulinoterapia convencional para o tratamento oral com glibenclamida em uma paciente de 4 anos, portadora de DMNP e síndrome DEND devido a uma mutação C166Y no gene KCNJ11. A insulina NPH (0,2 U/kg/dia) foi substituída pela glibenclamida (1 mg/kg/dia e 1,5 mg/kg/dia) durante internação hospitalar. As respostas de glicose e peptídeo-C no teste de tolerância oral à glicose (OGTT), os níveis de hemoglobina glicada, o perfil de glicemias capilares de 8 pontos e a freqüência de hipoglicemias foram comparados antes e durante o tratamento com glibenclamida. Não houve melhora no controle glicêmico, nem no quadro neurológico. Concluímos que a mutação C166Y associa-se a uma forma de DMNP insensível à glibenclamida.


Subject(s)
Child, Preschool , Female , Humans , Diabetes Mellitus , Epilepsy/genetics , Glyburide/therapeutic use , Hypoglycemic Agents/therapeutic use , Mutation , Potassium Channels, Inwardly Rectifying/genetics , Brazil , Developmental Disabilities/genetics , Diabetes Mellitus/drug therapy , Diabetes Mellitus/genetics , Diabetes Mellitus/metabolism , Syndrome
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