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1.
J Exp Zool A Ecol Integr Physiol ; 341(5): 563-577, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38470019

RESUMO

Future climate change scenarios project that the increase in surface temperatures will affect ocean temperatures, inducing shifts in marine biodiversity. Sea turtles are species that are particularly vulnerable to the effects of climate change because temperature is a factor that influences embryonic development. We collected clutches of olive ridley turtles from a mass-nesting beach in the Mexican Pacific, which were incubated in ex situ conditions. When the hatchlings emerged, we measured the body condition index-which evaluates the weight-length relationship-and swim thrust, both were considered traits associated with fitness, termed "fitness proxies," and evaluated the effects of incubation temperature, maternal effects, and paternity on these fitness proxies. The body condition index was correlated positively and significantly with the arribada month and temperature during the last third of the incubation period but showed an inverse relationship with the maternal effect. While swim thrust was positively correlated with the maternal effect and the arribada month, there was an inverse relationship with incubation temperature during the first third of the period. Paternity, whether single or multiple, did not have a significant effect on either fitness proxies; however, it may have effects on the average fitness of a population of hatchlings. These results underscore the need to expand research on the sublethal effects of high incubation temperatures on the adaptation and survival of sea turtles, particularly in scenarios of rapid climate change.


Assuntos
Temperatura , Tartarugas , Animais , Tartarugas/fisiologia , Feminino , México , Masculino , Mudança Climática , Oceano Pacífico , Comportamento de Nidação/fisiologia
2.
Horm Res Paediatr ; 2023 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-37393897

RESUMO

INTRODUCTION: Cases and severity of presentation of youth-onset type 2 diabetes (Y-T2D) increased during the COVID-19 pandemic, yet the potential drivers of this rise remain unknown. During this time public health mandates paused in-person education and limited social interactions, resulting in radical lifestyle changes. We hypothesized that the incidence and severity of presentation of Y-T2D increased during virtual learning amidst the COVID-19 pandemic. MATERIALS AND METHODS: We conducted a single center retrospective chart review to identify all newly diagnosed cases of Y-T2D (n=387) at a pediatric tertiary care center in Washington, DC during three pre-determined learning periods as defined by learning modality in Washington, DC Public Schools: pre-pandemic in-person learning (3/11/2018-3/13/2020), pandemic virtual learning (3/14/2020-8/29/2021), and pandemic in-person learning (8/30/2021-3/10/2022) periods. RESULTS: Incident cases were stable during pre-pandemic in-person learning (3.9 cases/month, 95% CI: 2.8 - 5.4 cases/month), increased to a peak during virtual learning (18.7 cases/month, 95% CI: 15.9 - 22.1 cases/month), and declined with return to in-person learning (4.3 cases/month, 95% CI: 2.8 - 6.8 cases/month). Y-T2D incidence was 16.9 (95% CI: 9.8-29.1, p<0.001) and 5.1-fold higher (95% CI: 2.9-9.1, p<0.001) among non-Hispanic Black and Latinx youth, respectively, throughout the study period. Overall COVID-19 infection rates at diagnosis were low (2.5%) and were not associated with diabetes incidence (p=0.26). DISCUSSION/CONCLUSIONS: This study provides timely insights into an important and modifiable correlate of Y-T2D incidence, its disproportionate impact on underserved communities, and the need to consider the effects on long-term health outcomes and pre-existing healthcare inequities when designing public policy.

3.
Horm Res Paediatr ; 94(7-8): 275-284, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34564073

RESUMO

INTRODUCTION: The impact of the COVID-19 pandemic on the incidence of pediatric type 1 (T1D) and type 2 diabetes (T2D) and severity of presentation at diagnosis is unclear. METHODS: A retrospective comparison of 737 youth diagnosed with T1D and T2D during the initial 12 months of the COVID-19 pandemic and in the preceding 2 years was conducted at a pediatric tertiary care center. RESULTS: Incident cases of T1D rose from 152 to 158 in the 2 years before the pandemic (3.9% increase) to 182 cases during the pandemic (15.2% increase). The prevalence of diabetic ketoacidosis (DKA) at T1D diagnosis increased over 3 years (41.4%, 51.9%, and 57.7%, p = 0.003); severe DKA increased during the pandemic as compared to the 2 years before (16.8% vs. 28%, p = 0.004). Although there was no difference in the mean hemoglobin A1c (HbA1c) between racial and ethnic groups at T1D diagnosis in the 2-years pre-pandemic (p = 0.31), during the pandemic HbA1c at T1D diagnosis was higher in non-Hispanic Black (NHB) youth (11.3 ± 1.4%, non-Hispanic White 10.5 ± 1.6%, Latinx 10.8 ± 1.5%, p = 0.01). Incident cases of T2D decreased from 54 to 50 cases (7.4% decrease) over the 2-years pre-pandemic and increased 182% during the pandemic (n = 141, 1.45 cases/month, p < 0.001). As compared to the 2-years pre-pandemic, cases increased most among NHB youth (56.7% vs. 76.6%, p = 0.001) and males (40.4% vs. 58.9%, p = 0.005). Cases of DKA (5.8% vs. 23.4%, p < 0.001) and hyperosmolar DKA (0 vs. 9.2%, p = 0.001) increased among youth with T2D during the pandemic. CONCLUSIONS: During the pandemic, the incidence and severity of presentation of T1D increased modestly, while incident cases of T2D increased 182%, with a nearly 6-fold increase in DKA and nearly a 10% incidence of hyperosmolar DKA. NHB youth were disproportionately impacted, raising concern about worsening of pre-existing health disparities during and after the pandemic.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Cetoacidose Diabética/epidemiologia , Adolescente , Criança , Pré-Escolar , Bases de Dados Factuais , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 2/diagnóstico , Cetoacidose Diabética/diagnóstico , Feminino , Humanos , Incidência , Masculino , Pandemias , Gravidade do Paciente , Prevalência , Estudos Retrospectivos
5.
PLoS One ; 14(10): e0222997, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31574129

RESUMO

The recent expansion of the invasive lionfish throughout the Western Hemisphere is one of the most extensively studied aquatic invasions. Molecular studies have improved our understanding of larval dispersal, connectivity, and biogeographical barriers among lionfish populations, but none have included Mexican localities, an important area for the larval dispersal of Pterois volitans through the Western Caribbean and the Gulf of Mexico. Here, we present a genetic analysis of lionfishes collected along Mexican coasts, examining their connectivity with other Caribbean localities (Belize, Cuba, Puerto Rico) and the role of ocean currents on population structure. We collected 213 lionfish samples from seven locations comprising four countries. To evaluate genetic structure, mitochondrial control region and nuclear inter-simple sequence repeat markers were used. We found that lionfish collected along Mexican coasts show a similar haplotype composition (H02 followed by H01 and H04) to other Caribbean locations, and the H03 rare haplotype was not found. Haplotype composition in the southwest Gulf of Mexico suggests a discontinuity between the southern and northern areas of the Gulf of Mexico. The southern area clustered more strongly to the Caribbean region, and this is supported by the complexity of water circulation in the semi-enclosed region of the Gulf of Mexico. Mitochondrial genetic diversity parameters show small values, whereas nuclear markers produce medium to high values. Only nuclear markers highlighted significant genetic differentiation between the southwest Gulf of Mexico and Caribbean region, confirming a phylogeographic break between both regions. Separate analysis of Caribbean locations indicates restricted larval exchange between southern and northern regions of the Mesoamerican Barrier Reef System, potentially in response to regional oceanographic circulation.


Assuntos
Espécies Introduzidas , Repetições de Microssatélites/genética , Perciformes/genética , Animais , Belize , Região do Caribe , Cuba , Golfo do México , México , Filogeografia , Porto Rico
6.
Appl Clin Genet ; 12: 87-93, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31239751

RESUMO

Purpose: The hypothalamic melanocortin-4 receptor (MC4R) pathway, a component of the central melanocortin pathway, regulates energy balance and satiety. Rare genetic disorders of obesity may be characterized by impaired MC4R pathway signaling, which results in early-onset severe obesity and insatiable hunger (hyperphagia). The TEMPO registry (NCT03479437) is a voluntary, prospective, open-ended registry of individuals with rare genetic disorders of obesity due to mutations in genes within the MC4R pathway who have early-onset severe obesity. The objective of the TEMPO registry is to evaluate the burden of rare genetic disorders of obesity on individuals, their parents/caregivers, health care providers, and the health care system. Patients and methods: Individuals with rare genetic disorders of obesity (adults aged ≥18 years and children and adolescents aged from 2 to 17 years) will be referred by their health care providers or by a genetic screening study. Individuals must meet age- and sex-specific body mass index values that define the clinical criteria for severe obesity and carry selected variants in MC4R or in one of several genes upstream or downstream of the MC4R. Online surveys will be completed by the individual, parent/caregiver, and health care provider at baseline and annually thereafter and will collect data on demographics, results of genetic testing, medical/family history, disease characteristics, resource utilization, eating habits/hunger episodes, social and emotional impacts, and interest in future clinical trial participation. Conclusions: The TEMPO registry will provide insights into the overall course and disease burden for individuals with rare genetic disorders of obesity. Health care providers may use this resource to improve the identification, diagnosis, and treatment of individuals with rare forms of genetic obesity.

7.
Endocrinol Diabetes Metab ; 2(2): e00055, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31008363

RESUMO

OBJECTIVE: Recently, our team transitioned to an outpatient diabetes education model for patients with newly diagnosed insulin-dependent diabetes mellitus (IDDM) after concerns arose regarding inconsistent education provided in the hospital, as well as additional emotional stress attributed to hospitalization. To optimize this model, an improvement initiative was implemented to redesign the outpatient care processes, refine patient education content and identify ideal educational strategies. Specific aims were to (a) achieve family self-management, (b) reduce stress and (c) ensure family and provider satisfaction with the outpatient pathway. RESEARCH DESIGN AND METHODS: Using a multidisciplinary team and formal quality improvement (QI) methods, we redesigned content and format of the pathway based on results from key measures and Plan-Do-Study-Act (PDSA) cycles. Primary outcome measures included self-efficacy, stress and satisfaction. RESULTS: We achieved our goal self-management skills, while maintaining high satisfaction for patients and providers throughout the implementation and refinement of the pathway. Key pathway components include refined education content, interactive educational tools and close collaboration with social work. Multiple PDSA cycles and pathway modifications were completed, including early social work involvement and simplification of education resources; however, we found modifying the stress experienced by parents to be a challenge. The majority of the stress relates to factors that are difficult to modify, specifically emotional burden and interpersonal distress, and is rarely attributed to regimen- or physician-related distress. CONCLUSION: During the transition to an outpatient pathway, we achieved our satisfaction and self-management goals but were unsuccessful in achieving our goals for minimizing stress associated with a new diagnosis of a chronic illness.

8.
Rev Med Inst Mex Seguro Soc ; 56(4): 424-428, 2018 11 30.
Artigo em Espanhol | MEDLINE | ID: mdl-30521157

RESUMO

Background: Male breast cancer is a rare entity, with an approximate rate of 1.1 / 100 000 in the US, with an average age of 67 years. In all cases a genetic study must be performed, in order to find mutations in known genes, and after the resolution of the disease, based on the results, a contralateral prophylactic mastectomy should be considered. Clinical case: 53 -year-old male diagnosed with right breast cancer, infiltrating ductal adenocarcinoma type, clinical stage IIB, breast cancer on 2 immediate family history, mutations of the BRCA1 gene and positive hormone receptors and Her2/Neu. He was treated with modified radical mastectomy in diseased side with subsequent neoadjuvant chemotherapy/radiotherapy. After a year of follow-up and a free behavior of disease, contralateral prophylactic mastectomy was performed. The patient progressed satisfactorily, following up to 18 months since the beginning, with no tumor activity data. Conclusions: Breast cancer in male patient has a worse prognosis than female patients, due to lower amount of tissue in breast exposed to an earlier chest spread and a different biological behavior, also a higher risk of prostate and pancreatic cancer is associated. Studies of adequate methodological quality are scarce, so that decisions are based on guidelines for breast cancer in women.


Introducción: el cáncer de mama en varones es una entidad poco frecuente, con una tasa aproximada de 1.1/100 000 habitantes en los Estados Unidos de América, con una edad media de presentación de 67 años. En todos los casos se aconseja realizar un estudio genético al paciente en búsqueda de mutaciones conocidas y después de la resolución de la enfermedad, con base en los resultados, considerar realizar una mastectomía profiláctica contralateral. Caso clínico: paciente masculino de 53 años de edad, con diagnóstico de cáncer de mama derecha, tipo adenocarcinoma canalicular infiltrante, estadio clínico IIB, con antecedentes de cáncer de mama en 2 familiares directos, mutaciones del gen BRCA1 y positivo tanto a receptores hormonales como para el gen Her2/Neu. Fue tratado con mastectomía radical modificada en lado enfermo con neoadyuvancia subsecuente a base de quimio/radioterapia, tras un año de seguimiento y con un comportamiento libre de enfermedad se realizó mastectomía profiláctica contralateral. El paciente evolucionó satisfactoriamente, en seguimiento a 18 meses sin datos de actividad tumoral. Conclusiones: el cáncer de mama en el paciente varón tiene un pronóstico peor respecto al paciente de sexo femenino, esto por la menor cantidad de tejido en mama que lo expone a una diseminación torácica más temprana y por su comportamiento más agresivo, además de asociarse a un mayor riesgo de desarrollar cáncer de próstata y páncreas, respecto a la población general. Los estudios de adecuada calidad metodológica son escasos, por lo que la toma decisiones se fundamenta en las directrices para el cáncer de mama en mujeres.

9.
Child Obes ; 14(7): 443-452, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29791184

RESUMO

Severe obesity defined as an age- and gender-specific body mass index ≥120% of the 95th percentile in children younger than 5 years is well recognized as a significant challenge for prevention and treatment. This article provides an overview of the prevalence, classification of obesity severity, patterns of weight gain trajectory, medical and genetic risk factors, and comorbid disorders among young children with an emphasis on severe obesity. Studies suggest rapid weight gain trajectory in infancy, maternal smoking, maternal gestational diabetes, and genetic conditions are associated with an increased risk for severe obesity in early childhood. Among populations of young children with severe obesity seeking care, co-morbid conditions such as dyslipidemia and fatty liver disease are present and families report behavioral concerns and developmental delays. Children with severe obesity by age 5 represent a vulnerable population of children at high medical risk and need to be identified early and appropriately managed.


Assuntos
Predisposição Genética para Doença , Obesidade Mórbida/epidemiologia , Obesidade Infantil/epidemiologia , Índice de Massa Corporal , Pré-Escolar , Comorbidade , Diabetes Gestacional , Dislipidemias/epidemiologia , Etnicidade , Feminino , Humanos , Lactente , Resistência à Insulina , Masculino , Comportamento Materno , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Obesidade Mórbida/prevenção & controle , Obesidade Mórbida/terapia , Obesidade Infantil/prevenção & controle , Obesidade Infantil/terapia , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Fatores de Risco , Fumar/efeitos adversos , Fatores Socioeconômicos , Aumento de Peso
10.
Child Obes ; 11(5): 630-7, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26440387

RESUMO

BACKGROUND: There are no existing multisite national data on obese youth presenting for pediatric weight management. The primary aim was to describe BMI status and comorbidities among youth with obesity presenting for pediatric weight management (PWM) at programs within the Pediatric Obesity Weight Evaluation Registry (POWER). METHODS: Data were collected from 2009-2010 among 6737 obese patients ages 2-17. Patients were classified in three groups by BMI (kg/m(2)) cutoffs and percent of the 95th percentile for BMI: (1) obesity; (2) severe obesity class 2; and (3) severe obesity class 3. Weighted percentages are presented for baseline laboratory tests, blood pressure, and demographics. Generalized logistic regression with clustering was used to examine the relationships between BMI status and comorbidities. RESULTS: Study youth were 11.6 ± 3.4 years of age, 56% female, 31% black, 17% Hispanic, and 53% publicly insured. Twenty-five percent of patients had obesity (n = 1674), 34% (2337) had severe obesity class 2, and 41% (2726) had severe obesity class 3. Logistic regression revealed that males (odds ratio [OR], 1.8; 95% confidence interval [CI], 1.5-2.0), blacks (OR, 1.7; 95% CI, 1.5-2.0), age <6 years (OR, 2.0; 95% CI, 1.5-2.6), and public insurance (OR, 1.8; 95% CI, 1.5-2.0) had a higher odds of severe obesity class 3. Severe obesity class 3 was associated with higher odds of laboratory abnormalities for hemoglobin A1c (OR, 1.7; 95% CI, 1.3-2.2), alanine aminotransferase ≥40 U/L (OR, 1.9; 95% CI, 1.3-2.6), and elevated systolic blood pressure (OR, 2.5; 95% CI, 2.0-3.0). CONCLUSIONS: Youth with obesity need earlier access to PWM given that they are presenting when they have severe obesity with significant comorbidities.


Assuntos
Aconselhamento Diretivo/métodos , Obesidade Infantil/prevenção & controle , Atenção Primária à Saúde/organização & administração , Encaminhamento e Consulta/organização & administração , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Obesidade Infantil/epidemiologia , Guias de Prática Clínica como Assunto , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Estados Unidos/epidemiologia
11.
Child Obes ; 10(4): 292-303, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25055134

RESUMO

BACKGROUND: Type 2 diabetes mellitus (T2DM) and prediabetes have increased in prevalence among overweight and obese children, with significant implications for long-term health. There is little published evidence on the best approaches to care of prediabetes among overweight youth or the current practices used across pediatric weight management programs. METHODS: This article reviews the literature and summarizes current practices for screening, diagnosis, and treatment of prediabetes at childhood obesity treatment centers. Findings regarding current practice were based on responses to an online survey from 28 pediatric weight management programs at 25 children's hospitals in 2012. Based on the literature reviewed, and empiric data, consensus support statements on prediabetes care and T2DM prevention were developed among representatives of these 25 children's hospitals' obesity clinics. RESULTS: The evidence reviewed demonstrates that current T2DM and prediabetes diagnostic parameters are derived from adult-based studies with little understanding of clinical outcomes among youth. Very limited evidence exists on preventing progression of prediabetes. Some evidence suggests that a significant proportion of obese youth with prediabetes will revert to normoglycemia without pharmacological management. Evidence supports lifestyle modification for children with prediabetes, but further study of specific lifestyle changes and pharmacological treatments is needed. CONCLUSION: Evidence to guide management of prediabetes in children is limited. Current practice patterns of pediatric weight management programs show areas of variability in practice, reflecting the limited evidence base. More research is needed to guide clinical care for overweight youth with prediabetes.


Assuntos
Diabetes Mellitus Tipo 2/prevenção & controle , Obesidade Infantil/prevenção & controle , Estado Pré-Diabético/prevenção & controle , Programas de Redução de Peso , Adolescente , Terapia Comportamental , Criança , Pré-Escolar , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/etiologia , Medicina Baseada em Evidências , Feminino , Humanos , Lactente , Masculino , Programas de Rastreamento , Obesidade Infantil/complicações , Obesidade Infantil/diagnóstico , Guias de Prática Clínica como Assunto , Estado Pré-Diabético/diagnóstico , Estado Pré-Diabético/etiologia , Avaliação de Programas e Projetos de Saúde
12.
Child Obes ; 10(4): 304-17, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25019404

RESUMO

BACKGROUND: Childhood obesity and overweight affect approximately 30% of US children. Many of these children have obesity-related comorbidities, such as hypertension, dyslipidemia, fatty liver disease, diabetes, polycystic ovary syndrome (PCOS), sleep apnea, psychosocial problems, and others. These children need routine screening and, in many cases, treatment for these conditions. However, because primary care pediatric providers (PCPs) often are underequipped to deal with these comorbidities, they frequently refer these patients to subspecialists. However, as a result of the US pediatric subspecialist shortage and considering that 12.5 million children are obese, access to care by subspecialists is limited. The aim of this article is to provide accessible, user-friendly clinical consensus statements to facilitate the screening, interpretation of results, and early treatment for some of the most common childhood obesity comorbidities. METHODS: Members of the Children's Hospital Association (formerly NACHRI) FOCUS on a Fitter Future II (FFFII), a collaboration of 25 US pediatric obesity centers, used a combination of the best available evidence and collective clinical experience to develop consensus statements for pediatric obesity-related comorbidities. FFFII also surveyed the participating pediatric obesity centers regarding their current practices. RESULTS: The work group developed consensus statements for use in the evaluation and treatment of lipids, liver enzymes, and blood pressure abnormalities and PCOS in the child with overweight and obesity. The results of the FFFII survey illustrated the variability in the approach for initial evaluation and treatment as well as pattern of referrals to subspecialists among programs. CONCLUSIONS: The consensus statements presented in this article can be a useful tool for PCPs in the management and overall care of children with overweight and obesity.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Dislipidemias/epidemiologia , Hipertensão/epidemiologia , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Obesidade Infantil/epidemiologia , Síndrome do Ovário Policístico/epidemiologia , Síndromes da Apneia do Sono/epidemiologia , Criança , Pré-Escolar , Comorbidade , Consenso , Diabetes Mellitus Tipo 2/etiologia , Diabetes Mellitus Tipo 2/prevenção & controle , Dislipidemias/etiologia , Dislipidemias/prevenção & controle , Feminino , Humanos , Hipertensão/etiologia , Hipertensão/prevenção & controle , Lactente , Masculino , Hepatopatia Gordurosa não Alcoólica/etiologia , Hepatopatia Gordurosa não Alcoólica/prevenção & controle , Obesidade Infantil/complicações , Obesidade Infantil/prevenção & controle , Síndrome do Ovário Policístico/etiologia , Síndrome do Ovário Policístico/prevenção & controle , Síndromes da Apneia do Sono/etiologia , Síndromes da Apneia do Sono/prevenção & controle , Estados Unidos/epidemiologia
13.
Can J Cardiol ; 28(6): 759.e9-759.e11, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22857901

RESUMO

Prader-Willi syndrome (PWS) is a syndrome characterized in babies by small birth weight, hypogonadism, flaccid muscle tone, and skeletal abnormalities, and in older children by intense food cravings leading to morbid obesity, hypoxemia, and right heart failure. To our knowledge, PWS has not been associated with coronary artery dissection. We report a 17-year-old woman with PWS who suffered an inferior myocardial infarction secondary to dissection of her right coronary artery.


Assuntos
Dissecção Aórtica/complicações , Aneurisma Coronário/complicações , Síndrome de Prader-Willi/complicações , Adolescente , Dissecção Aórtica/diagnóstico , Aneurisma Coronário/diagnóstico , Angiografia Coronária , Diagnóstico Diferencial , Ecocardiografia , Eletrocardiografia , Feminino , Seguimentos , Humanos
14.
Am J Med Genet A ; 155A(3): 626-33, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21344632

RESUMO

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis.


Assuntos
Raquitismo Hipofosfatêmico Familiar/complicações , Raquitismo Hipofosfatêmico Familiar/genética , Hipercalciúria/complicações , Hipercalciúria/genética , Mutação/genética , Nefrolitíase/complicações , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética , Sequência de Bases , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Dados de Sequência Molecular , Nefrolitíase/genética , Linhagem , Polimorfismo de Nucleotídeo Único/genética , Gravidez , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Mapeamento por Restrição , Reação em Cadeia da Polimerase Via Transcriptase Reversa
16.
J Pharm Pharmacol ; 59(5): 719-25, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17524238

RESUMO

Among the eight Calophyllum species found on the American continent, Calophyllum brasiliense is the most widely distributed. Chemical analysis of this species has shown the presence of xanthones with cancer chemopreventive properties and antifungal activity. Recently, three new coumarins with antineoplastic properties have been found. In this study, we have evaluated the biological effects of the antiproliferative activity of coumarins isolated from C. brasiliense on the survival, cell cycle and apoptosis of cells in-vitro and their antitumour effects in mice. The cytological study showed that coumarins from C. brasiliense reduce the survival of BMK cells (baby mouse kidney cells) by inducing apoptosis and, to a lesser degree, necrosis. The cell cycle was arrested in S-phase and the division of BMK cells was inhibited. Coumarins had caused a reduction of experimental tumours in 83% of animals by the end of the treatment. Therefore, coumarins have the potential to be used alone or in combination with other antineoplastic drugs, and they might increase the effectiveness of other treatments for cancer.


Assuntos
Antineoplásicos/farmacologia , Calophyllum/química , Cumarínicos/farmacologia , Extratos Vegetais/farmacologia , Animais , Antineoplásicos/isolamento & purificação , Apoptose/efeitos dos fármacos , Ciclo Celular/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Cumarínicos/isolamento & purificação , Modelos Animais de Doenças , Relação Dose-Resposta a Droga , Ensaios de Seleção de Medicamentos Antitumorais , Feminino , Camundongos , Camundongos Endogâmicos BALB C , Mitose/efeitos dos fármacos , Necrose , Neoplasias/tratamento farmacológico , Extratos Vegetais/isolamento & purificação , Plantas Medicinais/química , Vincristina/farmacologia
17.
J Pediatr Endocrinol Metab ; 17(3): 361-4, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15112913

RESUMO

A 13 year-old boy with Prader-Willi syndrome and steatohepatitis presented with diabetic ketoacidosis 4 weeks after the initiation of growth hormone (GH) treatment. He did not have signs or symptoms of type 2 diabetes mellitus (DM2) before the initiation of GH treatment. Hyperglycemia resolved 2 months after discontinuation of GH. He redeveloped DM2 6 months later associated with excessive weight gain. Diabetic ketoacidosis as a rare complication of GH therapy emphasizes the importance of screening for carbohydrate intolerance before and during GH treatment in patients with Prader-Willi syndrome. Steatohepatitis may be the only manifestation of insulin resistance and warrants further evaluation.


Assuntos
Cetoacidose Diabética/induzido quimicamente , Fígado Gorduroso/tratamento farmacológico , Hormônio do Crescimento/efeitos adversos , Hormônio do Crescimento/uso terapêutico , Síndrome de Prader-Willi/tratamento farmacológico , Adolescente , Cuidados Críticos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/terapia , Cetoacidose Diabética/complicações , Cetoacidose Diabética/diagnóstico , Dieta , Esquema de Medicação , Fígado Gorduroso/complicações , Fígado Gorduroso/diagnóstico , Previsões , Hormônio do Crescimento/administração & dosagem , Hospitalização , Humanos , Hipoglicemia/induzido quimicamente , Hipoglicemia/complicações , Insulina/uso terapêutico , Masculino , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/genética , Fatores de Tempo , Falha de Tratamento , Aumento de Peso
18.
J Clin Endocrinol Metab ; 88(10): 4848-56, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14557464

RESUMO

Resistin is a novel adipocyte-secreted hormone proposed to link obesity with diabetes. Studies in mice have revealed conflicting data however, and the physiological role of circulating resistin in humans remains unknown. We conducted cross-sectional studies in 123 middle-aged women and 120 healthy young subjects and found that serum resistin levels did not correlate with markers of adiposity, including body mass index, waist-to-hip ratio, or fat mass, or insulin resistance assessed by homeostasis model, lipid profile, or serum leptin levels; but females had higher resistin levels than males (P < 0.02). We also found no difference in serum resistin levels between lean healthy and obese insulin-resistant nondiabetic and type 2 diabetic adolescents. Finally, to evaluate the effect of food deprivation and/or leptin administration on resistin levels, we performed interventional studies that revealed no significant difference in resistin levels after 48 h of fasting and/or leptin administration at either physiological or pharmacological doses. We conclude that circulating resistin is unlikely to play a major role in insulin resistance or energy homeostasis in humans.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Hormônios Ectópicos/sangue , Resistência à Insulina/fisiologia , Peptídeos e Proteínas de Sinalização Intercelular , Leptina/administração & dosagem , Obesidade/sangue , Adolescente , Adulto , Índice de Massa Corporal , Estudos Transversais , Diabetes Mellitus Tipo 2/tratamento farmacológico , Ingestão de Energia , Jejum , Feminino , Homeostase , Humanos , Leptina/sangue , Masculino , Pessoa de Meia-Idade , Obesidade/tratamento farmacológico , Resistina
19.
J Pediatr ; 141(2): 280-2, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12183729

RESUMO

Type 2 diabetes mellitus and associated long-term complications have become a significant health problem in adolescents. We report a 16-year-old girl with poorly controlled type 2 diabetes mellitus who had recurrent necrobiosis lipoidica diabeticorum associated with venous insufficiency.


Assuntos
Diabetes Mellitus Tipo 2/complicações , Perna (Membro)/irrigação sanguínea , Necrobiose Lipoídica/etiologia , Insuficiência Venosa/etiologia , Adolescente , Feminino , Humanos , Recidiva
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