Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 41
Filtrar
1.
Bioanalysis ; : 1-8, 2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39229648

RESUMEN

Introduction: FcγRIIa amplifies platelet activation and higher platelet FcγRIIa identifies patients at greater risk of subsequent cardiovascular events. We report the accuracy and precision of a modified test to quantify FcγRIIa on previously fixed platelets (pFCG test).Methods & results: An antibody clone (5G1) was developed after exposure of mice to formaldehyde treated FcγRIIa. Accuracy and precision of the modified test was evaluated with biologic specimens (platelets) and engineered synthetic cells conjugated with FcγRIIa (Slingshot Biosciences). The modified pFCG test on fixed platelets (using 5G1) consistently identified modestly more (∼300 molecules) of FcγRIIa on platelets compared with the pFCG test on nonfixed platelets (using clone FL18.26). With biologic specimens, the intra-assay coefficient of variation (CV) was 2.1 ± 0.1% (standard error of the mean, n = 750). The interassay CV was assessed intraday (4.5 ± 1%) and interday (up to 5 days after fixation, 6.5 ± 0.4%, n = 50). The pFCG test performed on Slingshot Synthetic cells conjugated with FcγRIIa demonstrated accuracy, linearity (R2 = 0.984) and similar interassay CV both intraday (2% ± 0.6%) and interday (20 nonconsecutive days, 9.9% ± 2.1%).Conclusion: In summary, modification of the pFCG test to be performed on fixed platelets allows accurate quantification of pFCG with high precision.


[Box: see text].

2.
Braz. j. biol ; 84: e254010, 2024. tab, graf
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1345561

RESUMEN

Abstract The impact of fish oil concentration on the oxidative stability of microcapsules through the spray drying process using chitosan and maltodextrin as wall material was studied. Emulsions were prepared with different Tuna fish oil (TFO) content (TFO-10%, TFO20%, TF030% TF0-40%) while wall material concentration was kept constant. Microencapsulated powder resulting from emulsion prepared with high fish oil load have high moisture content, wettability, total oil and low encapsulation efficiency, hygroscopicity and bulk tapped density. Oxidative stability was evaluated periodically by placing microcapsules at room temperature. Microcapsules prepared with TFO-10% presented high oxidative stability in terms of peroxide value (2.94±0.04) and anisidine value (1.54±0.02) after 30 days of storage. It was concluded that optimal amounts of fish oil for microencapsulation are 10% and 20% using chitosan and maltodextrin that extended its shelf life during study period.


Resumo Foi estudado o impacto da concentração de óleo de peixe na estabilidade oxidativa de microcápsulas por meio do processo de secagem por atomização, utilizando quitosana e maltodextrina como material de parede. As emulsões foram preparadas com diferentes teores de óleo de atum (TFO) (TFO-10%, TFO20%, TF030% TF0-40%), enquanto a concentração de material de parede foi mantida constante. O pó microencapsulado resultante da emulsão preparada com alta carga de óleo de peixe tem alto teor de umidade, molhabilidade e óleo total e baixa eficiência de encapsulação, higroscopicidade e densidade extraída a granel. A estabilidade oxidativa foi avaliada periodicamente colocando microcápsulas à temperatura ambiente. As microcápsulas preparadas com TFO-10% apresentaram alta estabilidade oxidativa em termos de valor de peróxido (2,94 ± 0,04) e valor de anisidina (1,54 ± 0,02) após 30 dias de armazenamento. Concluiu-se que as quantidades ideais de óleo de peixe para microencapsulação são de 10% e 20% usando quitosana e maltodextrina que prolongaram sua vida útil durante o período de estudo.


Asunto(s)
Animales , Aceites de Pescado , Quitosano , Polvos , Atún , Estrés Oxidativo
3.
Braz. j. biol ; 842024.
Artículo en Inglés | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469256

RESUMEN

Abstract The impact of fish oil concentration on the oxidative stability of microcapsules through the spray drying process using chitosan and maltodextrin as wall material was studied. Emulsions were prepared with different Tuna fish oil (TFO) content (TFO-10%, TFO20%, TF030% TF0-40%) while wall material concentration was kept constant. Microencapsulated powder resulting from emulsion prepared with high fish oil load have high moisture content, wettability, total oil and low encapsulation efficiency, hygroscopicity and bulk tapped density. Oxidative stability was evaluated periodically by placing microcapsules at room temperature. Microcapsules prepared with TFO-10% presented high oxidative stability in terms of peroxide value (2.94±0.04) and anisidine value (1.54±0.02) after 30 days of storage. It was concluded that optimal amounts of fish oil for microencapsulation are 10% and 20% using chitosan and maltodextrin that extended its shelf life during study period.


Resumo Foi estudado o impacto da concentração de óleo de peixe na estabilidade oxidativa de microcápsulas por meio do processo de secagem por atomização, utilizando quitosana e maltodextrina como material de parede. As emulsões foram preparadas com diferentes teores de óleo de atum (TFO) (TFO-10%, TFO20%, TF030% TF0-40%), enquanto a concentração de material de parede foi mantida constante. O pó microencapsulado resultante da emulsão preparada com alta carga de óleo de peixe tem alto teor de umidade, molhabilidade e óleo total e baixa eficiência de encapsulação, higroscopicidade e densidade extraída a granel. A estabilidade oxidativa foi avaliada periodicamente colocando microcápsulas à temperatura ambiente. As microcápsulas preparadas com TFO-10% apresentaram alta estabilidade oxidativa em termos de valor de peróxido (2,94 ± 0,04) e valor de anisidina (1,54 ± 0,02) após 30 dias de armazenamento. Concluiu-se que as quantidades ideais de óleo de peixe para microencapsulação são de 10% e 20% usando quitosana e maltodextrina que prolongaram sua vida útil durante o período de estudo.

4.
Cornea ; 42(11): 1451-1453, 2023 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-37267471

RESUMEN

PURPOSE: The aim of this study was to describe a case of herpes simplex virus (HSV) and varicella-zoster virus (VZV) corneal co-infection in a patient with systemic immunosuppression. METHODS: A 77-year-old White man who was recently administered pembrolizumab present with reduction in visual acuity in his left eye from 20/25 to 20/50. There was a known history of ocular HSV keratitis. Slit-lamp examination showed superficial dendritic lesions suggestive of VZV. RESULTS: Viral polymerase chain reaction testing was positive for both HSV and VZV, confirming clinical diagnosis of VZV keratitis in the setting of recurrent HSV keratitis. The infection responded to treatment with topical trifluridine. Two months later, he had another episode of keratitis based on his symptoms reported through telephone encounter which resolved with trifluridine. Unfortunately, the patient committed suicide 4 months after onset. CONCLUSIONS: This is the first case of keratitis with HSV and VZV co-infection likely related to systemic immunosuppression. Clinicians should have a high suspicion for viral co-infections in the setting of systemic immunosuppression.


Asunto(s)
Varicela , Coinfección , Herpes Simple , Herpes Zóster , Herpesvirus Humano 1 , Queratitis Herpética , Masculino , Humanos , Anciano , Herpesvirus Humano 3/genética , Coinfección/diagnóstico , Trifluridina/uso terapéutico , Queratitis Herpética/diagnóstico , Queratitis Herpética/tratamiento farmacológico , Herpesvirus Humano 1/genética , Herpes Simple/diagnóstico , Herpes Simple/tratamiento farmacológico
5.
Braz J Biol ; 84: e268551, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37018768

RESUMEN

The present work was to study the genetic variability between the major carps Labeo rohita and Cirrhinus mrigala and their hybrids of L. rohita (male♂) and C. mrigala (female♀). Genetic variability was studied by employing RAPD molecular markers. 25 samples of each target species having different sizes with the same age group for the determination of interspecific variation were collected. The morphometric parameters such as body weight, total length, tail length, and lengths of dorsal and anal fins of each individual were recorded and results showed that wet body weight, total length, dorsal fin, anal fin, and tail fin length are positively correlated and then the DNA was extracted using the inorganic salt-based method and conformed by Gel electrophoresis. Twenty-four arbitrary decamer primers were used to get species-specific RAPD analysis Distinct and highly reproducible RAPD profiles with significant genetic variability was detected among species. Only five primers showed amplification. The RAPAD primer OPB-05 produced a total of seven bands out of these 5 monomorphic and 2 polymorphic, so in this case, the percentage polymorphism was 28.57%. The Hybrid show more than a 50% difference from the Labeo rohita. This shows that the Hybrid more resembles C.mrigala. Phylogenetic analysis demonstrated that hybrid (L. rohita ♂ X Cirrhinus mrigala ♀) is the closest to C. mrigala and the farthest from L. rohita. Overall data are presented concerning the applications of RAPD markers for hybrid identification, genetic diversity assessment, and studying taxonomic relationships at a molecular level.


Asunto(s)
Carpas , Cyprinidae , Animales , Filogenia , Técnica del ADN Polimorfo Amplificado Aleatorio , Cyprinidae/genética , Polimorfismo Genético , Variación Genética
6.
Braz J Biol ; 84: e269043, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36700587

RESUMEN

Camel milk was obtained from A-block UVAS Ravi Campus Pattoki. After pasteurization at 72 °C (15 sec) it was cooled to 42 °C, then glutathione treated transglutaminase enzyme was added with the concentration of 0.5 g/300 mL, 1 g/300 mL, 1.5 g/300 mL, 2 g/300 mL while control sample with the addition of 1.5 g/300 mL gelatin. Then inoculation of milk was done with standard cultures of Yoghurt Lactobacillus delbrueckii subsp bulgaricus and Streptococcus thermophilus at the rate of 2% for 3-4 hours at 42 °C. Samples were stored at 4 °C and were analyzed on 1st day and 28th day of storage. In our findings, there was slight increase in sensorial properties of all the samples. It was also observed that syneresis was reduced with the increase of enzyme quantity.


Asunto(s)
Lactobacillus delbrueckii , Leche , Animales , Yogur , Camelus , Fermentación
7.
Braz. j. biol ; 83: 1-9, 2023. tab, graf, ilus
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1468896

RESUMEN

Previous studies have suggested that arsenic crosses the placenta and affects the fetus development. The study under consideration aims to show comparative ameliorative effect of Moringa oleifera leaf and flower extracts against sodium arsenate induced fetus toxicity of mice. Pregnant mice (N=44) were kept in lab and divided into eleven group from (A to K) and were orally administered the doses 6 mg/kg, 12 mg/kg for sodium arsenate, 150 mg/kg and 300 mg/kg for Moringa oleifera leaf extracts (MOLE) and 150 mg/kg and 300 mg/kg for Moringa oleifera flower extracts (MOFE) comparing with control. The investigation revealed evident reduction in the fetuses weight, hind limb, fore limb, tail and snout length, crown rump and head circumferences well as malformations in tail, feet, arms, legs, skin and eyes in the negative control group (only administered with sodium arsenate). Co-administration of sodium arsenate with MOLE and MOFE ameliorate the reversed effect of sodium arsenate on the shape, length, body weight and DNA damage of fetus significantly at 95% confidence interval. However, Moringa oleifera leaf extract showed more significant results in comparison to Moringa oleifera flower extract. Hence concluded that Moringa oleifera leaf extract ameliorated the embryo toxic effects of sodium arsenate and can be used against environmental teratogens.


Estudos anteriores sugeriram que o arsênio atravessa a placenta e afeta o desenvolvimento do feto. O estudo em consideração visa mostrar o efeito melhorador comparativo de extratos de folhas e flores de Moringa oleifera contra a toxicidade fetal induzida por arseniato de sódio em camundongos. Camundongos grávidas (N = 44) foram mantidos em laboratório e divididos em 11 grupos (de A a K) e foram administrados por via oral nas doses de 6 mg/kg, 12 mg/kg para arseniato de sódio, 150 mg/kg e 300 mg/kg para extratos de folhas de Moringa oleifera (MOLE) e 150 mg/kg e 300 mg/kg para extratos de flores de Moringa oleifera (MOFE) em comparação com o controle. A investigação revelou redução evidente no peso do feto, membro posterior, membro anterior, comprimento da cauda e focinho, coroa, nádega e circunferência da cabeça, bem como malformações na cauda, pés, braços, pernas, pele e olhos no grupo de controle negativo (apenas administrado com arseniato de sódio). A coadministração de arseniato de sódio com MOLE e MOFE melhora significativamente o efeito reverso do arseniato de sódio na forma, comprimento, peso corporal e dano ao DNA do feto, com intervalo de confiança de 95%. No entanto, o extrato da folha da Moringa oleifera apresentou resultados mais significativos em comparação ao extrato da flor da Moringa oleifera. Portanto, concluiu que o extrato da folha de Moringa oleifera melhorou os efeitos tóxicos do arseniato de sódio para o embrião e pode ser usado contra teratógenos ambientais.


Asunto(s)
Femenino , Animales , Embarazo , Ratones , Arseniatos/toxicidad , Ensayo Cometa/veterinaria , Feto/anomalías , Feto/efectos de los fármacos , Lesiones Prenatales/veterinaria , Moringa oleifera/embriología
8.
Braz. j. biol ; 832023.
Artículo en Inglés | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469112

RESUMEN

Abstract Previous studies have suggested that arsenic crosses the placenta and affects the fetus development. The study under consideration aims to show comparative ameliorative effect of Moringa oleifera leaf and flower extracts against sodium arsenate induced fetus toxicity of mice. Pregnant mice (N=44) were kept in lab and divided into eleven group from (A to K) and were orally administered the doses 6 mg/kg, 12 mg/kg for sodium arsenate, 150 mg/kg and 300 mg/kg for Moringa oleifera leaf extracts (MOLE) and 150 mg/kg and 300 mg/kg for Moringa oleifera flower extracts (MOFE) comparing with control. The investigation revealed evident reduction in the fetuses weight, hind limb, fore limb, tail and snout length, crown rump and head circumferences well as malformations in tail, feet, arms, legs, skin and eyes in the negative control group (only administered with sodium arsenate). Co-administration of sodium arsenate with MOLE and MOFE ameliorate the reversed effect of sodium arsenate on the shape, length, body weight and DNA damage of fetus significantly at 95% confidence interval. However, Moringa oleifera leaf extract showed more significant results in comparison to Moringa oleifera flower extract. Hence concluded that Moringa oleifera leaf extract ameliorated the embryo toxic effects of sodium arsenate and can be used against environmental teratogens.


Resumo Estudos anteriores sugeriram que o arsênio atravessa a placenta e afeta o desenvolvimento do feto. O estudo em consideração visa mostrar o efeito melhorador comparativo de extratos de folhas e flores de Moringa oleifera contra a toxicidade fetal induzida por arseniato de sódio em camundongos. Camundongos grávidas (N = 44) foram mantidos em laboratório e divididos em 11 grupos (de A a K) e foram administrados por via oral nas doses de 6 mg/kg, 12 mg/kg para arseniato de sódio, 150 mg/kg e 300 mg/kg para extratos de folhas de Moringa oleifera (MOLE) e 150 mg/kg e 300 mg/kg para extratos de flores de Moringa oleifera (MOFE) em comparação com o controle. A investigação revelou redução evidente no peso do feto, membro posterior, membro anterior, comprimento da cauda e focinho, coroa, nádega e circunferência da cabeça, bem como malformações na cauda, pés, braços, pernas, pele e olhos no grupo de controle negativo (apenas administrado com arseniato de sódio). A coadministração de arseniato de sódio com MOLE e MOFE melhora significativamente o efeito reverso do arseniato de sódio na forma, comprimento, peso corporal e dano ao DNA do feto, com intervalo de confiança de 95%. No entanto, o extrato da folha da Moringa oleifera apresentou resultados mais significativos em comparação ao extrato da flor da Moringa oleifera. Portanto, concluiu que o extrato da folha de Moringa oleifera melhorou os efeitos tóxicos do arseniato de sódio para o embrião e pode ser usado contra teratógenos ambientais.

9.
Braz J Biol ; 84: e263534, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35857954

RESUMEN

Honey is one of the best nutritious substances in the world, having different services in the body functions regulation. Ten elements (K, Na, Ca, Co, Cr, Mn, Mo, Ni, Pb, Se) from honey samples were analyzed from 80 different locations of Punjab and ten floras. The aim of the present study was to determine the quality and quantity of minerals and Physico-chemical analysis in honey. A flame photometer was used to measure the concentration of major minerals (K, Ca and Na). The concentration of micro minerals (Co, Cr, Mn, Mo, Ni, Pb and Se) was analyzed using Atomic Absorption Spectrometer. The concentration of macro-elements obtained was as follow (in ppm): K (166-1732), Na (107-418) and Ca (07-99), while the concentration of microelements (in ppm) Co (1-2), Cr (>1), Mn (<1), Mo (1.818), Ni (1.911), Pb (<1) and Se (1.968). The most abundant minerals were potassium, calcium and sodium, ranging between 396-810.5, 17.5-640.63 and 169.88-238.62 ppm, respectively. However, the trace mineral elements of honey were obtained in the order of decreasing Se > Co > Ni > Pb > Cr > Mo > Mn. The findings showed that all the heavy metals like Co, Cr, Ni and Pb were present in trace amounts and close to International Honey Quality Standard. The result of given honey samples represented highest value of moisture (31.23%), color (80 mm pfund), pH (8.23), acidity (72.02 meq/kg), electrical conductivity (0.85 ms/cm) and ash contents (0.83%).


Asunto(s)
Miel , Metales Pesados , Oligoelementos , Animales , Abejas , Miel/análisis , Plomo , Minerales/análisis , Oligoelementos/análisis
10.
Braz J Biol ; 82: e263354, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35674614

RESUMEN

The majority of the birds in different habitats are stressed due to alteration in multiple climate factors contributing to their loss. The present study has been planned to find the roosts composition of passerine birds in different major and sub-habitats of Punjab, Pakistan. In Faisalabad, of the four species, the higher number of exits was almost comparable, while Passer domesticus and Pastor roseus were more abundant than Tachycinet bicolor and Lanius cristatus. For the three remaining birds, total exits and returns were 180 for P. roseus, 181 for T. bicolor, and 179 for L. cristatus, respectively. Considering the exits in morning hours, a total of 314, 256, 246 and 210, were recorded from Sheikhupura. In Khanewal, of the four species, the highest exits and returns were that of P. domesticus (407; 451), followed by that of the P. roseus (273; 336), T. bicolor (242; 319) and L. cristatus (220; 397). The temperature imposed serious effects on roost exits for the four birds. The varied P-values which were higher (< 0.001***, < 0.001***, 0.002 **, <0.001***) appeared to limit the roost exits for them. Nonetheless, the impact of relative humidity exerted a strong influence on the T. bicolor (0.003**). In roosts return, it was seen that roost returns were even likely in warm temperatures and precipitation did not impose seriously on returns, and even in light rainfall. Nonetheless, relative humidity (RH) strongly impacted the sparrow. The T. bicolor and L. cristatus were adversely affected with the slopes (1.37) and (2.06), indicated with each percentage increase of relative humidity, and slope variations became least.


Asunto(s)
Ecosistema , Gorriones , Animales , Pakistán , Temperatura
12.
Braz J Biol ; 84: e254010, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34730703

RESUMEN

The impact of fish oil concentration on the oxidative stability of microcapsules through the spray drying process using chitosan and maltodextrin as wall material was studied. Emulsions were prepared with different Tuna fish oil (TFO) content (TFO-10%, TFO20%, TF030% TF0-40%) while wall material concentration was kept constant. Microencapsulated powder resulting from emulsion prepared with high fish oil load have high moisture content, wettability, total oil and low encapsulation efficiency, hygroscopicity and bulk tapped density. Oxidative stability was evaluated periodically by placing microcapsules at room temperature. Microcapsules prepared with TFO-10% presented high oxidative stability in terms of peroxide value (2.94±0.04) and anisidine value (1.54±0.02) after 30 days of storage. It was concluded that optimal amounts of fish oil for microencapsulation are 10% and 20% using chitosan and maltodextrin that extended its shelf life during study period.


Asunto(s)
Quitosano , Aceites de Pescado , Animales , Estrés Oxidativo , Polvos , Atún
13.
Braz J Biol ; 83: e248022, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34468531

RESUMEN

Previous studies have suggested that arsenic crosses the placenta and affects the fetus development. The study under consideration aims to show comparative ameliorative effect of Moringa oleifera leaf and flower extracts against sodium arsenate induced fetus toxicity of mice. Pregnant mice (N=44) were kept in lab and divided into eleven group from (A to K) and were orally administered the doses 6 mg/kg, 12 mg/kg for sodium arsenate, 150 mg/kg and 300 mg/kg for Moringa oleifera leaf extracts (MOLE) and 150 mg/kg and 300 mg/kg for Moringa oleifera flower extracts (MOFE) comparing with control. The investigation revealed evident reduction in the fetuses weight, hind limb, fore limb, tail and snout length, crown rump and head circumferences well as malformations in tail, feet, arms, legs, skin and eyes in the negative control group (only administered with sodium arsenate). Co-administration of sodium arsenate with MOLE and MOFE ameliorate the reversed effect of sodium arsenate on the shape, length, body weight and DNA damage of fetus significantly at 95% confidence interval. However, Moringa oleifera leaf extract showed more significant results in comparison to Moringa oleifera flower extract. Hence concluded that Moringa oleifera leaf extract ameliorated the embryo toxic effects of sodium arsenate and can be used against environmental teratogens.


Asunto(s)
Moringa oleifera , Animales , Arseniatos , Daño del ADN , Ratones , Extractos Vegetales/farmacología , Hojas de la Planta
14.
Artículo en Inglés | MEDLINE | ID: mdl-33884056

RESUMEN

The extreme academic and social disruption caused by COVID-19 in the spring and summer of 2020 led to the loss of many student internships. We report here our creation of a novel internship for students majoring in the biological sciences. Student interns worked together to systematically categorize multiple episodes of This Week in Microbiology (TWiM). They annotated episodes by labeling relevant ASM fundamental curricular guidelines and the microbiology techniques described in several podcast episodes. Interns worked together, which advanced their written and oral communication skills while improving their scientific thinking skills. Faculty then enhanced each annotation by adding short figure-reading exercises that can be used in a variety of educational settings to teach science literacy. When surveyed, students reported greater confidence in analyzing and interpreting results from a variety of microbiological methods, improved communication of fundamental microbiology concepts in written and oral form, and enhanced ability to collaborate with others. Combined, this digital internship provided a unique opportunity for students to develop critical technical and scientific thinking skills and generated useful open education resources for teaching general microbiology in the form of annotated podcasts.

15.
Artículo en Inglés | MEDLINE | ID: mdl-33884091

RESUMEN

The onset of the COVID-19 pandemic in the spring of 2020 thrust instructors into a world of frenzy, presenting unique challenges to delivering course content. A particular challenge was determining suitable substitutes for wet lab experiments that are often comprised in science labs. Recognizing that this problem was not short-term, I started to look into virtual substitutions to be implemented in the 2020-2021 academic year. Virtual simulations can replace labs, be incorporated as pre-lab assignments, or used as active-learning or experiential learning exercises in a traditional classroom setting while providing low-cost, safe, and acceptable solutions to the current problem. Virtual simulations were examined on different platforms, including Labster, McGraw Hill Connect Virtual Labs, HHMI BioInteractive, Learn.Genetics, Virtual Interactive Bacteriology Laboratory, and Biology Corner. The goal was to provide faculty around the world with a reference list of virtual simulations that are aligned to specific AAAS and ASM student learning outcomes. These simulations are discussed in terms of content, features, and advantages of use. A list of lab exercises aligned to biology courses (microbiology, genetics, and cell biology) is also provided.

16.
J AAPOS ; 25(2): 119-121, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33675960

RESUMEN

A 19-year-old man with Loeys-Dietz syndrome and right exotropic Duane syndrome after bilateral lateral rectus recessions at age 22 months presented with recurrent progressive exotropia 17 years after his initial surgery. Surgical correction was aborted intraoperatively when extreme atrophy of the right medial rectus, lateral rectus, and superior rectus muscles was observed, later corroborated by orbital magnetic resonance imaging.


Asunto(s)
Síndrome de Retracción de Duane , Exotropía , Síndrome de Loeys-Dietz , Atrofia , Síndrome de Retracción de Duane/cirugía , Exotropía/etiología , Exotropía/cirugía , Humanos , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/cirugía , Masculino , Músculos Oculomotores/diagnóstico por imagen , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Adulto Joven
20.
J Postgrad Med ; 64(3): 180-182, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29992913

RESUMEN

Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid breathing, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Genetic analysis revealed a novel compound heterozygous mutation in FBP1 gene confirming the diagnosis of FBP1 deficiency. The patient was managed with treatment of acute episodes and preventive long-term dietary modifications. Long-term prognosis of FBP1 deficiency is excellent underlining the importance of early recognition of clinical signs, prompt diagnosis, and avoidance of fasting in this disease. FBP1 gene mutations have been described from various ethnic backgrounds, but there is limited data available from Indian population, hence the importance of this case.


Asunto(s)
Mutación/genética , Vómitos/genética , Femenino , Fructosa-Bifosfatasa/genética , Humanos , India , Lactante , Recurrencia , Población Blanca/genética
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA