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1.
Genet Med ; : 101216, 2024 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-39033378

RESUMO

PURPOSE: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). METHODS: We coupled phenotyping with exome or genome sequencing of 467 probands (550 affected and 1108 total individuals) with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions. Prioritized variants were classified for pathogenicity and evaluated for genotype/phenotype correlations. RESULTS: Analyses elucidated phenotypic subgroups, identified pathogenic/likely pathogenic variant(s) in 43/467 probands (9.2%), and prioritized variants of uncertain significance in 70/467 additional probands (15.0%). These included known and novel variants in established oCCDD genes, genes associated with syndromes that sometimes include oCCDDs (e.g., MYH10, KIF21B, TGFBR2, TUBB6), genes that fit the syndromic component of the phenotype but had no prior oCCDD association (e.g., CDK13, TGFB2), genes with no reported association with oCCDDs or the syndromic phenotypes (e.g., TUBA4A, KIF5C, CTNNA1, KLB, FGF21), and genes associated with oCCDD phenocopies that had resulted in misdiagnoses. CONCLUSION: This study suggests that unsolved oCCDDs are clinically and genetically heterogeneous disorders often overlapping other Mendelian conditions and nominates many candidates for future replication and functional studies.

2.
Pancreatology ; 24(5): 764-770, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38796308

RESUMO

BACKGROUND: Pancreatic cysts are often incidentally detected on routine imaging studies. Of these, mucinous cysts have a malignant potential. Several guidelines propose different management strategies, and implementation in patient care is inconsistent in the absence of dedicated infrastructure. METHODS: To address the challenges of pancreatic cyst diagnosis and management, we established a multidisciplinary pancreas cyst clinic (PCC) within our health system. This clinic encompasses both tertiary care academic centers and community hospitals, with leadership from surgical oncology, gastroenterology, and radiology. Our PCC's primary goal is to provide accurate diagnosis and tailored management recommendations for all patients with pancreatic cysts. Additionally, we maintain a prospective database to study the disease's natural history and the outcomes of various treatment strategies. CLINIC INFRASTRUCTURE: The clinic meets once per week for 45 min virtually via Zoom in the mornings. Patients are referred via electronic medical record (EMR) order, telephone call, or email from patient or referring provider. A dedicated advanced practice provider reviews referrals several times per day, calls patients to gather clinical data, ensures imaging is uploaded, and coordinates logistical aspects of the meeting during the dedicated time. Conferences are attended by representatives from surgery, radiology, medical pancreatology, and interventional gastroenterology. Each patient case is reviewed in detail and recommendations are submitted to referring providers and patients via an EMR message and letter. For patients requiring imaging surveillance, patients are followed longitudinally by the referring provider, gastroenterology team, or surgical team. For patients requiring endoscopic ultrasound (EUS) or surgical consultation, expedited referral to these services is made with prompt subsequent evaluation. RESULTS: A total of 1052 patients from our health system were evaluated between 2020 and 2021. Of these, 196 (18.6 %) underwent EUS, 41 (3.9 %) underwent upfront surgical resection, and the remainder were referred to gastroenterology (141-13.4 %), surgery (314-29.8 %), or back to their referring provider (597-56.7 %) for ongoing surveillance in collaboration with their primary care provider (PCP). Of cysts under surveillance, 61.3 % remained stable, 13.2 % increased in size, and 2 % decreased in size. A total of 2.3 % of patients were recommended to discontinue surveillance. CONCLUSIONS: The PCC provides infrastructure that has served to provide multidisciplinary review and consensus recommendations to patients with pancreatic cysts. This has served to improve the application of guidelines while providing individualized recommendations to each patient, while aiding non-expert referring providers throughout the region.


Assuntos
Cisto Pancreático , Humanos , Cisto Pancreático/terapia , Cisto Pancreático/diagnóstico , Cisto Pancreático/diagnóstico por imagem , Equipe de Assistência ao Paciente , Encaminhamento e Consulta
3.
medRxiv ; 2024 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-38585811

RESUMO

Purpose: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods: We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions. Prioritized variants were classified for pathogenicity and evaluated for genotype/phenotype correlations. Results: Analyses elucidated phenotypic subgroups, identified pathogenic/likely pathogenic variant(s) in 43/467 probands (9.2%), and prioritized variants of uncertain significance in 70/467 additional probands (15.0%). These included known and novel variants in established oCCDD genes, genes associated with syndromes that sometimes include oCCDDs (e.g., MYH10, KIF21B, TGFBR2, TUBB6), genes that fit the syndromic component of the phenotype but had no prior oCCDD association (e.g., CDK13, TGFB2), genes with no reported association with oCCDDs or the syndromic phenotypes (e.g., TUBA4A, KIF5C, CTNNA1, KLB, FGF21), and genes associated with oCCDD phenocopies that had resulted in misdiagnoses. Conclusion: This study suggests that unsolved oCCDDs are clinically and genetically heterogeneous disorders often overlapping other Mendelian conditions and nominates many candidates for future replication and functional studies.

4.
J Surg Case Rep ; 2023(6): rjad342, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37309546

RESUMO

Deep endometriosis, defined as external adenomyosis, is a late stage of endometriosis. Associated with very severe pain, in addition to probably being a cofactor of infertility, with a low prevalence, the diagnosis is integrated by high clinical suspicion and confirmed with imaging studies. Deep infiltration can reach sigmoid colon, which would have surgical indication as resolving treatment. We report the case of deep infiltrating endometriosis affecting sigmoid colon of a 42-year-old woman, who was diagnosed with colicky pain in the left lower quadrant and chronic constipation. Colonoscopy revealed a 90% stenosis in the proximal portion of sigmoid colon, as well as mural thickening proximal to the site of stenosis, reported by computed tomography with oral contrast, for which it was decided to perform robot-assisted sigmoidectomy, with a 6-month follow-up and with imaging control, patient continues asymptomatic and without the presence of lesions suggestive of recurrence, and there is no functional impairment.

5.
Emerg Infect Dis ; 29(2): 456-459, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36692499

RESUMO

We assessed serum samples collected in Cauca Department, Colombia, from 486 persons for Orientia seroreactivity. Overall, 13.8% showed reactive IgG by indirect immunofluorescence antibody assay and ELISA. Of those samples, 30% (20/67) were confirmed to be positive by Western blot, showing >1 reactive band to Orientia 56-kD or 47-kD antigens.


Assuntos
Orientia tsutsugamushi , Infecções por Rickettsia , Tifo por Ácaros , Humanos , Tifo por Ácaros/epidemiologia , Colômbia/epidemiologia , População Rural , Sensibilidade e Especificidade , Imunoglobulina M , Anticorpos Antibacterianos , Ensaio de Imunoadsorção Enzimática , Orientia
6.
Acta Trop ; 238: 106773, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36417982

RESUMO

Some hard ticks' species can act as vectors of a wide variety of pathogens of human and animal importance such as Anaplasma, Ehrlichia and Rickettsia spp. In Colombia, a total of forty-six tick species have been described, and some of them have been implicated as vectors of some infectious agents. The department of Cauca is one of the thirty-two departments of Colombia. Most of its population lives in rural areas and depends on agriculture as the main economic activity, favoring exposure to ticks and tick-borne pathogens. Thus, the present study aimed to determine the tick species and tick-borne pathogens circulating in this region. From August to November 2017, ticks were collected from dogs, horses and cattle from eight rural areas of four municipalities in the department of Cauca. All collected ticks were classified according to taxonomic keys and organized in pools. DNA was extracted from all tick pools for molecular confirmation of tick species and detection of Anaplasma, Ehrlichia and Rickettsia spp. A total of 2809 ticks were collected which were grouped in 602 pools. Ticks were morphologically identified as Amblyomma cajennense sensu lato, Dermacentor nitens, Rhipicephalus microplus and Rhipicephalus sanguineus sensu lato. The molecular identity of A. cajennense s.l. was confirmed as Amblyomma patinoi. A total of 95% of the pools scored positive for members of the Anaplasmataceae family, of which, 7.8% and 7.3% were positive to Anaplasma and Ehrlichia spp., respectively, being identified as Anaplasma marginale, Ehrlichia minasensis and Ehrlichia canis; and 16.1% were positive for Rickettsia spp. with high identity for Rickettsia asembonensis, Rickettsia felis and Candidatus Rickettsia senegalensis. This is the first report describing the natural infection of ticks with rickettsial pathogens and the occurrence of A. patinoi ticks in Cauca department, Colombia.


Assuntos
Rhipicephalus sanguineus , Rickettsia , Doenças Transmitidas por Carrapatos , Animais , Cães , Humanos , Bovinos , Cavalos , Animais Domésticos , Colômbia/epidemiologia , Rickettsia/genética , Anaplasma/genética , Rhipicephalus sanguineus/microbiologia , Doenças Transmitidas por Carrapatos/microbiologia
7.
Am J Trop Med Hyg ; 107(6): 1218-1225, 2022 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-36375460

RESUMO

Several arboviruses have emerged or reemerged into the New World during the past several decades, causing outbreaks of significant proportion. In particular, the outbreaks of Dengue virus (DENV), Zika virus, and Chikungunya virus (CHIKV) have been explosive and unpredictable, and have led to significant adverse health effects. These viruses are considered the leading cause of acute undifferentiated febrile illnesses in Colombia. However, Venezuelan equine encephalitis virus (VEEV) is endemic in Colombia, and arboviruses such as the Mayaro virus (MAYV) and the Oropouche virus (OROV) cause febrile illnesses in neighboring countries. Yet, evidence of human exposure to MAYV and OROV in Colombia is scarce. In this study, we conducted a serosurvey study in healthy individuals from the Cauca Department in Colombia. We assessed the seroprevalence of antibodies against multiple arboviruses, including DENV serotype 2, CHIKV, VEEV, MAYV, and OROV. Based on serological analyses, we found that the overall seroprevalence for DENV serotype 2 was 30%, 1% for MAYV, 2.6% for CHIKV, 4.4% for VEEV, and 2% for OROV. This study provides evidence about the circulation of MAYV and OROV in Colombia, and suggests that they-along with VEEV and CHIKV-might be responsible for cases of acute undifferentiated febrile illnesses that remain undiagnosed in the region. The study results also highlight the need to strengthen surveillance programs to identify outbreaks caused by these and other vector-borne pathogens.


Assuntos
Arbovírus , Febre de Chikungunya , Vírus Chikungunya , Infecção por Zika virus , Zika virus , Humanos , Estudos Soroepidemiológicos , Colômbia/epidemiologia , Anticorpos Antivirais , Infecção por Zika virus/epidemiologia , Febre
8.
Emerg Infect Dis ; 28(10): 2109-2111, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-36148977

RESUMO

Ehrlichia minasensis is a new pathogenic bacterial species that infects cattle, and Borrelia theileri causes bovine borreliosis. We detected E. minasensis and B. theileri DNA in cattle from southwestern Colombia by using PCR. E. minasensis and B. theileri should be considered potential etiologies of febrile syndrome in cattle from Colombia.


Assuntos
Infecções por Borrelia , Doenças dos Bovinos , Animais , Infecções por Borrelia/veterinária , Bovinos , Doenças dos Bovinos/epidemiologia , Doenças dos Bovinos/microbiologia , Colômbia/epidemiologia , DNA , Reação em Cadeia da Polimerase
9.
Nutrients ; 15(1)2022 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-36615804

RESUMO

Exclusive breastfeeding is recommended for the first six months of life to promote adequate infant growth and development, and to reduce infant morbidity and mortality. However, whenever some mothers are not able to breastfeed their infants, infant formulas mimicking human milk are needed, and the safety and efficacy of each formula should be tested. Here, we report the results of a multicenter, randomized, blinded, controlled clinical trial that aimed to evaluate a novel starting formula on weight gain and body composition of infants up to 6 and 12 months, as well as safety and tolerability. For the intervention period, infants were divided into three groups: group 1 received formula 1 (Nutribén® Innova 1 (Alter Farmacia S.A., Madrid, Spain) or INN (n = 70)), with a lower amount of protein, a lower casein to whey protein ratio by increasing the content of α-lactalbumin, and a double amount of docosahexaenoic acid/arachidonic acid than the standard formula; it also contained a thermally inactivated postbiotic (Bifidobacterium animalis subsp. lactis, BPL1TM HT). Group 2 received the standard formula or formula 2 (Nutriben® Natal (Alter Farmacia S.A., Madrid, Spain) or STD (n = 70)) and the third group was exclusively breastfed for exploratory analysis and used as a reference (BFD group (n = 70)). During the study, visits were made at 21 days and 2, 4, 6, and 12 months of age. Weight gain was higher in both formula groups than in the BFD group at 6 and 12 months, whereas no differences were found between STD and INN groups either at 6 or at 12 months. Likewise, body mass index was higher in infants fed the two formulas compared with the BFD group. Regarding body composition, length, head circumference and tricipital/subscapular skinfolds were alike between groups. The INN formula was considered safe as weight gain and body composition were within the normal limits, according to WHO standards. The BFD group exhibited more liquid consistency in the stools compared to both formula groups. All groups showed similar digestive tolerance and infant behavior. However, a higher frequency of gastrointestinal symptoms was reported by the STD formula group (n = 291), followed by the INN formula (n = 282), and the BFD groups (n = 227). There were fewer respiratory, thoracic, and mediastinal disorders among BFD children. Additionally, infants receiving the INN formula experienced significantly fewer general disorders and disturbances than those receiving the STD formula. Indeed, atopic dermatitis, bronchitis, and bronchiolitis were significantly more prevalent among infants who were fed the STD formula compared to those fed the INN formula or breastfed. To evaluate whether there were significant differences between formula treatments, beyond growth parameters, it would seem necessary to examine more precise health biomarkers and to carry out long-term longitudinal studies.


Assuntos
Fórmulas Infantis , Infecções Sexualmente Transmissíveis , Feminino , Criança , Humanos , Lactente , Aleitamento Materno , Aumento de Peso , Composição Corporal
10.
Am J Trop Med Hyg ; 104(5): 1771-1776, 2021 03 22.
Artigo em Inglês | MEDLINE | ID: mdl-33755584

RESUMO

Ehrlichia canis infections have been reported in humans in Venezuela and Costa Rica. In this study, 506 healthy residents and 114 dogs from four municipalities (Cauca, Colombia) were surveyed and blood samples collected. Antibodies to E. canis in human and canine sera were evaluated using the Tandem repeat protein 19 (TRP19) peptide ELISA and indirect immunofluorescence assay (IFA). Ehrlichia canis TRP19 antibodies were detected in only 1/506 human sera, but the single positive sample was negative by IFA. The majority (75/114; 66%) of dogs surveyed had antibodies to the E. canis TRP19 peptide by ELISA, and eight randomly selected sera were further confirmed by E. canis IFA. Genomic DNA samples obtained from 73 E. canis TRP19 ELISA-positive dog blood samples were examined by PCR targeting the 16S ribosomal ribonucleic acid (rRNA) gene. Ehrlichia canis 16S rRNA was amplified in 30 (41%) of the dogs, and 16 amplicons were selected for DNA sequencing, which confirmed that all were E. canis. A second PCR was performed on the 16 confirmed E. canis 16S rRNA PCR-positive samples to determine the TRP36 genotype by amplifying the trp36 gene. TRP36 PCR amplicon sequencing identified nine dogs infected with the U.S. E. canis TRP36 genotype (56%), one dog with the Brazilian genotype (6%), and six dogs with the Costa Rican genotype (38%). Moreover, these molecular genotype signatures were consistent with serologic analysis using TRP36 genotype-specific peptides. Notably, there was no serologic evidence of E. canis infection in humans, suggesting that E. canis infection in dogs in Cauca is not associated with zoonotic human infection.


Assuntos
Anticorpos Antibacterianos/sangue , Doenças do Cão/imunologia , Ehrlichia canis/genética , Ehrlichia canis/imunologia , Ehrlichiose/epidemiologia , Ehrlichiose/imunologia , Genótipo , Animais , Colômbia/epidemiologia , Estudos Transversais , Doenças do Cão/epidemiologia , Cães/microbiologia , Ehrlichia canis/classificação , Ehrlichiose/sangue , Ehrlichiose/veterinária , Ensaio de Imunoadsorção Enzimática , Humanos , Filogenia , RNA Ribossômico 16S/genética , Análise de Sequência de DNA , Estudos Soroepidemiológicos
11.
J Infect Dev Ctries ; 14(10): 1155-1163, 2020 10 31.
Artigo em Inglês | MEDLINE | ID: mdl-33175711

RESUMO

INTRODUCTION: Rickettsioses are zoonotic diseases caused by pathogenic bacteria of the genus Rickettsia and transmitted to man by means of arthropod vectors such as ticks, fleas, mites and lice. Historically, Caldas Department has reported a significant number of cases of murine typhus to the Colombian national health surveillance system, and consequent studies of flea-borne rickettsiosis identified the circulation of Rickettsia typhi and Rickettsia felis in multiple municipalities. Our aim was to genotype species of Rickettsia detected in fleas collected from domestic and wild mammals in Caldas. METHODOLOGY: Flea samples were taken by convenience sampling from dogs, cats and wild mammals (rodents and marsupials) in 26 municipalities. Specimens were classified by current taxonomic keys and pooled for DNA extraction and molecular screening for Rickettsia spp. by PCR amplification of gltA, htrA and sca5 genes. Positive samples were genotyped by enzyme digestion (htrA) and sequencing. RESULTS: A total of 1388 flea samples were collected. Rickettsia DNA was amplified in 818 (gltA), 883 (htrA) and 424 (sca5) flea pools. Alignment analysis with available Rickettsia DNA sequences showed greater similarity with R. asembonensis (gltA) and with R. felis (sca5 and htrA). Restriction pattern was compatible with R. felis. R. typhi was not identified. CONCLUSION: The present study confirms the presence and high prevalence of R. asembonensis and R. felis in fleas from domestic and wild animals in different municipalities from Caldas Department.


Assuntos
Infestações por Pulgas/veterinária , Genótipo , Infecções por Rickettsia/veterinária , Rickettsia/genética , Sifonápteros/microbiologia , Animais , Animais Domésticos/microbiologia , Animais Selvagens/microbiologia , Gatos , Colômbia , Cães , Mamíferos , Rickettsia/classificação , Rickettsia/isolamento & purificação , Infecções por Rickettsia/microbiologia , Roedores , Zoonoses/microbiologia , Zoonoses/transmissão
12.
Food Res Int ; 130: 108904, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32156359

RESUMO

The objective of this study was to propose a novel method to determine residues of the bio-insecticide spinetoram, which is a mixture of two components (spinetoram J and L), in honey from multifloral, rosemary and heather botanical origins; liquid chromatography coupled to quadrupole time-of-flight mass spectrometry was the technique employed. An efficient sample treatment (recoveries between 82% and 95%) involving a solid-phase extraction with a polymeric sorbent has been recommended, and no matrix effect was observed. Chromatographic analysis (4 min) was performed in reverse phase mode by using a fused-core column (Kinetex® EVO C18) with acetonitrile and ammonium formate as the mobile phase components, which was applied in isocratic elution mode. Method was validated according to the current European legislation. Not only was it selective, but it also displayed a wide linear range, good precision (relative standard deviation values lower than 9%) and sensitivity (low limits of detection (spinetoram J, 0.1-0.3 µg/kg; spinetoram L, 0.1-0.2 µg/kg) and quantification (spinetoram J, 0.3-1.2 µg/kg; spinetoram L, 0.4-0.7 µg/kg)). Several honey samples were analyzed with this method and no spinetoram residues were found above the limits of detection.


Assuntos
Cromatografia Líquida/métodos , Mel/análise , Macrolídeos/análise , Extração em Fase Sólida/métodos , Espectrometria de Massas em Tandem/métodos , Reprodutibilidade dos Testes
13.
Nutrients ; 12(2)2020 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-32033484

RESUMO

An excess of fat mass has been associated with adverse cardiometabolic risk factors. Different anthropometric measures have been proposed as alternative non-invasive measures for obesity-related cardiometabolic risk. To evaluate the magnitude of association between waist circumference (WC) and waist-to-height ratio (WtHR) with cardiometabolic risk factors and metabolic syndrome and to determine the WtHR cutoff associated with a more favorable cardiometabolic risk profile in Spanish children, data were taken from a cross-sectional survey conducted in 2010 among 848 schoolchildren aged 8-11 years from 20 public schools in the province of Cuenca (Spain). Anthropometric variables, glucose, insulin, triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), systolic (SBP) and diastolic blood pressure (DBP) and metabolic syndrome (MetS) were also analyzed. WtHR and WC had a good accuracy for TG, insulin, and MetS. The diagnostic odds ratio ranged from 2.95 to 9.07 for WtHR and from 5.30 to 27.40 for WC. The main result of the present study suggests that both WtHR and WC could be used as a screening tool to identify children with cardiometabolic abnormalities.


Assuntos
Doenças Cardiovasculares/etiologia , Programas de Rastreamento/estatística & dados numéricos , Síndrome Metabólica/etiologia , Circunferência da Cintura , Razão Cintura-Estatura , Antropometria/métodos , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Programas de Rastreamento/métodos , Razão de Chances , Obesidade Infantil/complicações , Obesidade Infantil/fisiopatologia , Valor Preditivo dos Testes , Valores de Referência , Medição de Risco , Fatores de Risco , Espanha
14.
J Med Entomol ; 57(2): 382-387, 2020 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-31617911

RESUMO

Rickettsia typhi and Rickettsia felis (Rickettsiales: Rickettsiaceae) are flea-transmitted pathogens. They are important causes of acute febrile illness throughout the world. We, therefore, sought to identify the rickettsial species present in the fleas of dogs and cats in the department of Cauca, Colombia. In this study, we collected 1,242 fleas from 132 dogs and 43 fleas from 11 cats. All fleas were morphologically identified as Ctenocephalides felis (Bouché) adults and organized in pools for DNA extraction (234 pools from dogs and 11 from cats). The gltA gene from rickettsiae was targeted for screening amplification using conventional PCR. In total, 144 of the 245 pools (58.7%) were positive. The positive samples were then processed for the amplification of the 17kDa antigen gene (144/144; 100% positive) and sca5 gene (140/144; 97.2% positive). In addition, restriction enzyme length polymorphism analysis using NlaIV on the amplified product of the sca5 gene demonstrated several organisms: 21/140 (15%) were R. felis, 118/140 (84.3%) were Rickettsia asemboensis, and 1/140 (0.7%) were Candidatus Rickettsia senegalensis. Subsequent sequencing confirmed Candidatus Rickettsia senegalensis in C. felis collected from dogs the first reported from Colombia.


Assuntos
Doenças do Gato/microbiologia , Ctenocephalides/microbiologia , Doenças do Cão/microbiologia , Infecções por Rickettsia/veterinária , Rickettsia/isolamento & purificação , Animais , Doenças do Gato/parasitologia , Gatos , Colômbia , Doenças do Cão/parasitologia , Cães , Infestações por Pulgas/parasitologia , Infestações por Pulgas/veterinária , Rickettsia/classificação , Infecções por Rickettsia/microbiologia
15.
Eur J Pediatr ; 178(12): 1813-1822, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31522316

RESUMO

The aim of this study was to perform a systematic review and meta-analysis of cut-off points of Homeostasis Model Assessment (HOMA-IR) to determine metabolic syndrome (MetS) in children and adolescents. A literature search was conducted in MEDLINE (via PubMed), EMBASE, Web of Science, Proquest, and Scopus databases from their inception to June 2018. Random effects models for the diagnostic odds ratio (dOR) value computed by Moses' constant for a linear model and 95% confidence intervals (CIs) were used to calculate the accuracy of the test. Hierarchical summary receiver operating characteristic curves (HSROC) were used to summarize the overall test performance. Six published studies were included in the meta-analysis that included 8732 children and adolescents. The region of HOMA-IR (i.e., dOR) associated with MetS range from 2.30 to 3.54. The pooled accuracy parameters from the studies that evaluated the diagnostic odds ratio of HOMA-IR ranged from 4.39 to 37.67.Conclusion: the HOMA-IR test may be useful for early evaluating children and adolescents with insulin resistance (IR). Furthermore, they present a good diagnostic accuracy independently of the definition of MetS used. According to the studies, the HOMA-IR cut point to avoid MetS risk ranged from 2.30 to 3.59.What is Known:• There is no consensus to define the optimal cut-off point of Homeostasis Model Assessment-Insulin Resistance in children and adolescents associated with Metabolic Syndrome.What is New:• The Homeostasis Model Assessment-Insulin Resistance test may be useful for early evaluations in children and adolescents with insulin resistance and presents a good diagnostic accuracy independently of the definition of Metabolic Syndrome used.• The Homeostasis Model Assessment-Insulin Resistance cut point to avoid Metabolic Syndrome risk ranged from 2.30 to 3.59.


Assuntos
Homeostase , Síndrome Metabólica/diagnóstico , Adolescente , Criança , Humanos
16.
Hum Mol Genet ; 28(18): 3113-3125, 2019 09 15.
Artigo em Inglês | MEDLINE | ID: mdl-31211835

RESUMO

Oculomotor synkinesis is the involuntary movement of the eyes or eyelids with a voluntary attempt at a different movement. The chemokine receptor CXCR4 and its ligand CXCL12 regulate oculomotor nerve development; mice with loss of either molecule have oculomotor synkinesis. In a consanguineous family with congenital ptosis and elevation of the ptotic eyelid with ipsilateral abduction, we identified a co-segregating homozygous missense variant (c.772G>A) in ACKR3, which encodes an atypical chemokine receptor that binds CXCL12 and functions as a scavenger receptor, regulating levels of CXCL12 available for CXCR4 signaling. The mutant protein (p.V258M) is expressed and traffics to the cell surface but has a lower binding affinity for CXCL12. Mice with loss of Ackr3 have variable phenotypes that include misrouting of the oculomotor and abducens nerves. All embryos show oculomotor nerve misrouting, ranging from complete misprojection in the midbrain, to aberrant peripheral branching, to a thin nerve, which aberrantly innervates the lateral rectus (as seen in Duane syndrome). The abducens nerve phenotype ranges from complete absence, to aberrant projections within the orbit, to a normal trajectory. Loss of ACKR3 in the midbrain leads to downregulation of CXCR4 protein, consistent with reports that excess CXCL12 causes ligand-induced degradation of CXCR4. Correspondingly, excess CXCL12 applied to ex vivo oculomotor slices causes axon misrouting, similar to inhibition of CXCR4. Thus, ACKR3, through its regulation of CXCL12 levels, is an important regulator of axon guidance in the oculomotor system; complete loss causes oculomotor synkinesis in mice, while reduced function causes oculomotor synkinesis in humans.


Assuntos
Atividade Motora/genética , Desempenho Psicomotor , Receptores CXCR/genética , Receptores CXCR/metabolismo , Sincinesia/etiologia , Sincinesia/metabolismo , Alelos , Sequência de Aminoácidos , Substituição de Aminoácidos , Animais , Animais Geneticamente Modificados , Biomarcadores , Análise Mutacional de DNA , Modelos Animais de Doenças , Imunofluorescência , Expressão Gênica , Estudos de Associação Genética , Ligação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Imuno-Histoquímica , Camundongos , Mutação , Linhagem , Polimorfismo de Nucleotídeo Único , Transporte Proteico , Receptores CXCR/química , Sincinesia/diagnóstico , Sincinesia/fisiopatologia
17.
Nutrition ; 60: 170-174, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30611079

RESUMO

OBJECTIVE: The aim of the study was to examine the combined associations between handgrip strength (HGS) and adherence to a Mediterranean diet with blood pressure (BP) in Chilean children. METHODS: This cross-sectional study enrolled 1140 children (794 boys and 346 girls) 8 to 12 y of age. HGS was measured using a hand dynamometer with an adjustable grip. Adherence to a Mediterranean diet was assessed with the Kidmed score. Resting BP was measured by an automated monitor using an appropriately sized cuff. Elevated BP was defined as ≥90th percentile, and high HGS was defined as sex- and age-specific normative ≥80th percentile for the HGS. RESULTS: The prevalence of elevated systolic BP, diastolic BP, and overall BP were 16.6%, 12.9%, and 8.1%, respectively. HGS was negatively associated with BP parameters in an unadjusted and adjusted model after considering potential confounders (age, sex, body mass index z-score, and HGS). Regarding diet adherence, the unadjusted model reveals that children with high adherence to the Mediterranean diet showed lower BP levels (systolic, diastolic, and mean arterial pressure) compared with children with low-medium adherence; however, these differences disappear after considering potential confounders. The combination of high HGS and optimal adherence to a Mediterranean diet was negatively associated with BP. CONCLUSIONS: Children with a high HGS levels (i.e., ≥80th percentile) may somewhat overcome the deleterious effects of low adherence to a Mediterranean diet. Therefore, these findings suggest that the combination of these two components of a healthy lifestyle, especially HGS may be beneficial to children's BP.


Assuntos
Pressão Sanguínea/fisiologia , Dieta Mediterrânea/estatística & dados numéricos , Força da Mão/fisiologia , Cooperação do Paciente/estatística & dados numéricos , Criança , Chile/epidemiologia , Estudos Transversais , Feminino , Humanos , Hipertensão/epidemiologia , Hipertensão/etiologia , Masculino , Prevalência
18.
Am J Hum Biol ; 29(4)2017 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-28120433

RESUMO

OBJECTIVE: The aim of this study was to examine the trends in cardiometabolic risk factors among schoolchildren in Cuenca, Spain, from 2006 to 2010. METHODS: Data were taken from two cross-sectional surveys conducted in 2006 and 2010 among schoolchildren aged 8-12 years from 20 public schools in the province of Cuenca. The final sample consisted of 2148 participants with measured anthropometric variables, biochemical assessment, and blood pressure. RESULTS: We observed an increase in mean serum total cholesterol (8.5 mg/dL and 10.7 mg/dL), LDL-cholesterol (13.7 mg/dL and 17.3 md/dL), triglycerides (3.6 mg/dL and 2.6 md/dL), fasting insulin (1.2 µU/mL and 0.3 µU/mL) and HOMA-IR (0.2 and 0.02) and a decrease in mean serum HDL-cholesterol (4.4 mg/dL and 5.7 mg/dL), systolic blood pressure (3.8 mmHg and 5.4 mmHg) and diastolic blood pressure (0.8 mmHg and 2.0 mmHg) in both sexes. In girls, mean arterial pressure (3.2 mmHg) also decreased in this period. In addition, we found an increase in the prevalence of adverse total cholesterol concentration (≥200 mg/dL) (7.8% and 8.9%), HDL-cholesterol concentration (<40 mg/dL) (1.9% in boys and 3.5% in girls) and LDL cholesterol concentration (≥130mg/dL) (4.8% and 5.8%) in boys and girls, respectively. CONCLUSIONS: There has been a worsening of the lipid profile in schoolchildren from Cuenca, independent of weight status and age.


Assuntos
Doenças Cardiovasculares/epidemiologia , Antropometria , Análise Química do Sangue , Pressão Sanguínea , Doenças Cardiovasculares/etiologia , Criança , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Prevalência , Fatores de Risco , Espanha/epidemiologia
19.
Gynecol Obstet Invest ; 69(4): 274-80, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20110726

RESUMO

BACKGROUND/AIMS: Polycystic ovary syndrome (PCOS) has been found to affect 4-8% of women of reproductive age; however, in Mexican-Americans a prevalence of 12.8% has been reported. This study determines the prevalence of PCOS in a sample of Mexican women. METHODS: This prospective cross-sectional study included 150 female Mexican volunteers aged 20-45 years. Menstrual cycles were recorded and hirsutism was graded. Pelvic ultrasound was performed and androgen levels were measured. PCOS was diagnosed by hyperandrogenism and/or hyperandrogenemia, and oligo-ovulation (NIH 1990 criteria), and also by 2 of 3 findings: oligo-ovulation, clinical and/or biochemical hyperandrogenism and polycystic ovaries (PCO) (Rotterdam 2003 criteria), excluding other disorders. RESULTS: Nine of the 150 women were diagnosed with PCOS, a prevalence of 6.0% (95% CI: 1.9-10.1%), according to NIH criteria. The ultrasound morphology added one patient to give ten PCOS patients, a prevalence of 6.6% (95% CI: 2.3-10.9%) according to Rotterdam criteria. All PCOS patients presented oligo-ovulation, 9 had hirsutism and 7 of them had acne. Eight of the 10 PCOS patients had morphologic characteristics of PCO. CONCLUSION: The prevalence of PCOS in Mexican women is approximately 6.0%, similar to other populations, but lower than 12.8% reported in Mexican-American women.


Assuntos
Síndrome do Ovário Policístico/epidemiologia , Acne Vulgar/epidemiologia , Adulto , Androgênios/sangue , Índice de Massa Corporal , Estudos Transversais , Feminino , Hirsutismo/epidemiologia , Humanos , Hiperandrogenismo/epidemiologia , Americanos Mexicanos , México/epidemiologia , México/etnologia , Pessoa de Meia-Idade , Ovário/diagnóstico por imagem , Ovulação , Síndrome do Ovário Policístico/diagnóstico , Estudos Prospectivos , Ultrassonografia , Estados Unidos
20.
Rev. chil. cienc. méd. biol ; 8(2): 69-72, dic. 1998. tab
Artigo em Espanhol | LILACS | ID: lil-269533

RESUMO

Para conocer la situación nutricional en nuestro medio, hemos realizado un estudio retrospectivo y descriptivo del estado nutricional de los niños de 0 a 6 años que acudieron a "Control de Niño Sano", durante 1997 en el Consultorio Alemania de la Ciudad de Angol, Chile. Los resultados mostraron 23 por ciento de niños obesos y con sobrepeso y un 2,6 por ciento de niños desnutridos y en riesgo de desnutrición. Se estudió también la relación de la malnutrición con algunas patologías, observándose un mayor número de infecciones respiratorias altas (IRA) y diarreas, en los niños con sobrepeso y obesos, respecto a los niños en riesgo de desnutrición y desnutrido. A su vez, estos últimos presentan más infecciones respiratorias bajas (IRB) que los primeros. De nuestro estudio podemos concluir que el principal problema nutricional en Consultorio Alemania, ya no es la desnutrición sino la obesidad. Este estudio permitirá medir el impacto de las medidas adoptadas por el Equipo de Salud en la prevención de la obesidad


Assuntos
Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Nutrição da Criança , Transtornos da Nutrição do Lactente/epidemiologia , Nutrição do Lactente , Avaliação Nutricional , Transtornos da Nutrição Infantil/epidemiologia , Obesidade/epidemiologia
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