scholarly journals Associations of MC4R, LEP, and LEPR Polymorphisms with Obesity-Related Parameters in Childhood and Adulthood

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 949
Author(s):  
Asta Raskiliene ◽  
Alina Smalinskiene ◽  
Vilma Kriaucioniene ◽  
Vaiva Lesauskaite ◽  
Janina Petkeviciene
Keyword(s):  
Gene Polymorphisms ◽  
Energy Homeostasis ◽  
Anthropometric Measurements ◽  
Gene Variants ◽  
Chain Reaction ◽  
Fat Level ◽  
Mc4r Rs17782313 ◽  
Polymerase Chain ◽  
Lep Gene

MC4R, LEP, and LEPR genes are involved in the hypothalamic leptin-melanocortin regulation pathway, which is important for energy homeostasis. Our study aimed to evaluate the associations between the MC4R rs17782313, LEP rs7799039, and LEPR rs1137101 polymorphisms with obesity-related parameters in childhood and adulthood. The data were obtained from the Kaunas Cardiovascular Risk Cohort study, which started in 1977 with 1082 participants aged 12–13 years. In 2012–2014, the follow-up survey was carried out. Genotype analysis of all respondents (n = 509) aged 48–49 years was performed for the gene polymorphisms using Real-Time Polymerase Chain Reaction. Anthropometric measurements were performed in childhood and adulthood. In childhood, only skinfold thicknesses were associated with gene variants being the lowest in children with MC4R TT genotype and LEP AG genotype. In adulthood, odds of obesity and metabolic syndrome was higher in MC4R CT/CC genotype than TT genotype carriers (OR 1.8; 95% CI 1.2–2.8 and OR 1.6; 95% CI 1.1–2.4, respectively). In men, physical activity attenuated the effect of the MC4R rs17782313 on obesity. The LEP GG genotype was associated with higher BMI, waist circumference, and visceral fat level only in men. No associations of the LEPR rs1137101 polymorphisms with anthropometric measurements and leptin level were found. In conclusion, the associations of the MC4R and LEP gene polymorphisms with obesity-related parameters strengthened with age.

scholarly journals Persistent SARS-CoV-2-positive over 4 months in a COVID-19 patient with CHB

Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 749-753
Author(s):  
Wenyuan Li ◽  
Beibei Huang ◽  
Qiang Shen ◽  
Shouwei Jiang ◽  
Kun Jin ◽  
...  
Keyword(s):  
The Novel ◽  
Chain Reaction ◽  
Health Crisis ◽  
Public Health Crisis ◽  
Oxygen Inhalation ◽  
New Strategy ◽  
Polymerase Chain ◽  
Novel Coronavirus ◽  
Specific Symptoms

Abstract In recent months, the novel coronavirus disease 2019 (COVID-19) pandemic has become a major public health crisis with takeover more than 1 million lives worldwide. The long-lasting existence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has not yet been reported. Herein, we report a case of SARS-CoV-2 infection with intermittent viral polymerase chain reaction (PCR)-positive for >4 months after clinical rehabilitation. A 35-year-old male was diagnosed with COVID-19 pneumonia with fever but without other specific symptoms. The treatment with lopinavir-ritonavir, oxygen inhalation, and other symptomatic supportive treatment facilitated recovery, and the patient was discharged. However, his viral PCR test was continually positive in oropharyngeal swabs for >4 months after that. At the end of June 2020, he was still under quarantine and observation. The contribution of current antivirus therapy might be limited. The prognosis of COVID-19 patients might be irrelevant to the virus status. Thus, further investigation to evaluate the contagiousness of convalescent patients and the mechanism underlying the persistent existence of SARS-CoV-2 after recovery is essential. A new strategy of disease control, especially extending the follow-up period for recovered COVID-19 patients, is necessary to adapt to the current situation of pandemic.

Case Report: Progressive Dysphonia and Dysphagia due to Laryngeal Leishmaniasis

2021 ◽  
Author(s):  
Laura Renard ◽  
Adrien Lemaignen ◽  
Guillaume Desoubeaux ◽  
David Bakhos
Keyword(s):  
Polymerase Chain Reaction ◽  
Weight Loss ◽  
Case Report ◽  
Amphotericin B ◽  
Laryngeal Cancer ◽  
Complete Resolution ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Histopathology Examination

Laryngeal leishmaniasis is an unusual form of the disease. We report the case of a patient who consulted for dysphonia and dysphagia in a context of asthenia and weight loss. The patient had lesions that were suggestive of laryngeal cancer but were revealed to be leishmaniasis by histopathology examination and polymerase chain reaction. Treatment with amphotericin B and miltefosine permitted complete resolution of the lesions and no recurrence during the 18-month follow-up period.

scholarly journals Role of plasminogen activator inhibitor-1 gene polymorphisms in osteoporosis: A study in Chinese post-menopausal women

2018 ◽  
Vol 16 ◽  
pp. 205873921876729
Author(s):  
An Wan ◽  
Daodong Liu
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Women ◽  
Plasminogen Activator Inhibitor ◽  
Plasminogen Activator Inhibitor 1 ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Post Menopausal ◽  
Activator Inhibitor ◽  
Pai 1

Osteoporosis is a chronic multifactorial disease characterized by deterioration of bone mass and is vulnerable to bone fracture. Plasminogen activator inhibitor-1 (PAI-1) is an important molecule for maintenance of optimum bone mass. Several single-nucleotide polymorphisms (SNPs) in PAI-1 have been reported to alter PAI-1 expression and/or the translational level. In this report, we explored the possible role of common PAI-1 gene polymorphisms on predisposition to osteoporosis in a Chinese cohort. A total of 364 post-menopausal Chinese women diagnosed of having osteoporosis and 350 healthy females hailing from similar areas were enrolled in this study. Five common SNPs (−844G > A, −6754G/5G, +43G > A, +9785G > A and +11053T > G) were genotyped by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Relative expression of PAI-1 mRNA and plasma PAI-1 levels were quantified by reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA), respectively. Prevalence of homozygous mutant (5G/5G) and minor allele (5G) of PAI-1 (−675 4G/5G) polymorphism was significantly more frequent in patients than in healthy controls (5G/5G: P < 0.0001, odds ratio (OR) = 3.18; 5G: P < 0.0001, OR = 1.65). Both plasma PAI-1 and relative mRNA expression levels were significantly lower in patients compared to healthy controls. Interestingly, the quantity of plasma PAI-1 and mRNA expression was correlated with PAI-1 (−675 4G/5G) polymorphism: subjects with 4G/4G genotype had elevated PAI-1 in comparison to homozygous mutant, and displayed lower quantity of PAI-1 protein and mRNA values. PAI-1 (−675 4G/5G) mutant is associated with susceptibility to development of osteoporosis in post-menopausal Chinese women. Furthermore, this variant in the promoter region alters plasma protein levels and relative expression of PAI-1.

scholarly journals A serological and molecular investigation of American cutaneous leishmaniasis in dogs, three years after an outbreak in the Northwest of Paraná State, Brazil

2009 ◽  
Vol 25 (1) ◽  
pp. 97-104 ◽  
Author(s):  
Gustavo Kiyoshi Massunari ◽  
Evandra Maria Voltarelli ◽  
Demilson Rodrigues dos Santos ◽  
Ademar Rodrigues dos Santos ◽  
Luiz Paschoal Poiani ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Cutaneous Leishmaniasis ◽  
Control Measures ◽  
Transmission Control ◽  
Chain Reaction ◽  
American Cutaneous Leishmaniasis ◽  
Molecular Investigation ◽  
Polymerase Chain ◽  
Pcr Techniques

Classic and molecular (polymerase chain reaction - PCR) techniques were used to diagnose American cutaneous leishmaniasis in 149 dogs from an area in the northwest of Paraná State, Brazil, where an American cutaneous leishmaniasis outbreak occurred in 2002. The results were compared to a set of previously obtained results. Twenty-five dogs had positive indirect immunofluorescence (IIF) (titers > 40), including two animals with suggestive lesions. The percentage of dogs with positive IIF was similar to that found in a previous study. The cultures of the lesion, blood and bone marrow were negative for Leishmania. A direct search for the parasite in the lesions proved negative, although PCR tests were positive. The PCR did not detect the DNA of Leishmania (Viannia) in the blood, even for those that had positive PCR in a previous study. The follow up of the 27 dogs showed that the majority of them had maintained the same levels of antibodies that had been detected previously. There was a reduction in the number of dogs with lesions, probably due to the transmission control measures that were adopted after the outbreak.

Diagnosis and follow-up of Bartonella henselae infection in the spleen of an immunocompetent patient by real-time quantitative PCR

2013 ◽  
Vol 62 (7) ◽  
pp. 1081-1085 ◽  
Author(s):  
Maria Carla Liberto ◽  
Giovanni Matera ◽  
Angelo G. Lamberti ◽  
Angela Quirino ◽  
Giorgio S. Barreca ◽  
...  
Keyword(s):  
Real Time ◽  
Bartonella Henselae ◽  
Quantitative Polymerase Chain Reaction ◽  
Immunocompetent Patient ◽  
Chain Reaction ◽  
Real Time Quantitative Pcr ◽  
Novel Method ◽  
Polymerase Chain ◽  
Immunocompetent Adults

Systemic Bartonella henselae infections are unusual in immunocompetent adults. However, here we report one such case of bartonellosis in a 34-year-old patient, who presented with fever and multinodular splenomegaly. We also describe a novel method of identifying Bartonella henselae by real-time quantitative polymerase chain reaction and sequencing of amplified products. This could prevent splenic bartonellosis being mistaken for lymphoma and thereby avert unnecessary splenectomy.

scholarly journals Autologous Bone Marrow Transplantation for Acute Promyelocytic Leukemia in Second Remission: Prognostic Relevance of Pretransplant Minimal Residual Disease Assessment by Reverse-Transcription Polymerase Chain Reaction of the PML/RARα Fusion Gene

Blood ◽  
1997 ◽  
Vol 90 (3) ◽  
pp. 1321-1325 ◽  
Author(s):  
Giovanna Meloni ◽  
Daniela Diverio ◽  
Marco Vignetti ◽  
Giuseppe Avvisati ◽  
Saveria Capria ◽  
...  
Keyword(s):  
Median Time ◽  
Fusion Gene ◽  
Autologous Bone Marrow Transplantation ◽  
Autologous Bone Marrow ◽  
Promyelocytic Leukemia ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Autologous Bone

Abstract Reverse-transcription polymerase chain reaction (RT-PCR) of the PML/RARα fusion gene may predict relapse in acute promyelocytic leukemia (APL) patients in hematologic complete remission (CR). We have prospectively studied by RT-PCR 15 PML/RARα+ APL patients undergoing autologous bone marrow transplantation (ABMT) in second CR. The median time of first CR duration was 12 months (range, 6 to 40). All patients were reinduced with all-trans retinoic acid (ATRA), followed in 12 of 15 cases by mitoxantrone and Ara-C as consolidation. Fourteen patients received the BAVC (BCNU, Ara-C, m-AMSA, and VP-16) schedule as conditioning regimen. Unpurged marrows were collected immediately before conditioning treatment, analyzed by RT-PCR, and reinfused at median of 2 months (range, 2 to 7) from the achievement of second CR. Seven patients were PCR+ and eight PCR− for PML/RARα in their pretransplant marrows. All seven patients of the former group remained PCR+ during the follow-up and relapsed at a median time of 5 months (range, 2 to 9) from ABMT and 9 months (range, 4 to 14) from second CR. Of the eight PCR− patients, all remained PCR− during the follow-up controls. One patient relapsed at 10 months from ABMT, one died of a secondary (PML/RARα−) leukemia, and six are in hematologic and molecular remission at a median time of 28 months (range, 15 to 60) after ABMT and 32 months (range, 17 to 62) from second CR. Our results indicate that, in APL patients in second CR, ABMT with PML/RARα− marrow cells is likely to result in prolonged clinical and molecular remissions. Conversely, patients who test PCR+ after reinduction necessitate the use of alternative aggressive approaches, including unrelated allogeneic transplant.

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