Introduction: Multinodular and Vacuolating Neuronal Tumors (MVNTs) are clinically benign lesions and was recently included in the last World Health Organization Classification of Tumors of the Central Nervous System (WHO – 2016). Recent studies have discovered specific immunomarkers that classifies the MVNTs as a new neoplasm group placed within the section covering "Neuronal and mixed neuronal-glial tumors” as a WHO grade I lesion. Case report: We present a case of a probable MVNT in a 55-year old woman, who presented with chronic pattern seizures. Conventional MRI revealed an infiltrative and multinodular pattern lesion localized in the deep left cerebral hemisphere compromising the ventral posteromedial and pulvinar surfaces of thalamus, lateral geniculate body, choroidal fissure, mammillothalamic tract, fornix and septum pellucidum, anterior commissure, extending to contralateral globus pallidus and internal capsule. Dynamic susceptibility contrast-enhanced MR perfusion and Arterial Spin Labeling (ASL) technique didn’t show any abnormalities. MR spectroscopy demonstrated a mild increase in Choline (Cho) and mild reduction in N-acetyl aspartate (NAA). No substantial difference both clinically and radiologically was observed on five years follow up. Conclusion: The diagnosis of MVNT was made considering the extremally benign biological behavior of this tumor and the typical imaging features, despite of deep localization of the lesion, and once this kind of lesion was previously described as a “don’t touch lesion” the histological, biopsy was not performed.
{"title":"Multinodular and Vacuolating Neuronal Tumor in the Brain Depth - Atypical Presentation of a New Tumor: A Case Report","authors":"Narvaez Eo, Marussi Vhr, Junior Cls, Hatano Nt, Maluf Fc, Amaral Llf","doi":"10.37421/jmgm.2020.14.453","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.453","url":null,"abstract":"Introduction: Multinodular and Vacuolating Neuronal Tumors (MVNTs) are clinically benign lesions and was recently included in the last World Health Organization Classification of Tumors of the Central Nervous System (WHO – 2016). Recent studies have discovered specific immunomarkers that classifies the MVNTs as a new neoplasm group placed within the section covering \"Neuronal and mixed neuronal-glial tumors” as a WHO grade I lesion. Case report: We present a case of a probable MVNT in a 55-year old woman, who presented with chronic pattern seizures. Conventional MRI revealed an infiltrative and multinodular pattern lesion localized in the deep left cerebral hemisphere compromising the ventral posteromedial and pulvinar surfaces of thalamus, lateral geniculate body, choroidal fissure, mammillothalamic tract, fornix and septum pellucidum, anterior commissure, extending to contralateral globus pallidus and internal capsule. Dynamic susceptibility contrast-enhanced MR perfusion and Arterial Spin Labeling (ASL) technique didn’t show any abnormalities. MR spectroscopy demonstrated a mild increase in Choline (Cho) and mild reduction in N-acetyl aspartate (NAA). No substantial difference both clinically and radiologically was observed on five years follow up. Conclusion: The diagnosis of MVNT was made considering the extremally benign biological behavior of this tumor and the typical imaging features, despite of deep localization of the lesion, and once this kind of lesion was previously described as a “don’t touch lesion” the histological, biopsy was not performed.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/jmgm.2020.14.454
Allon I, Silenikov I, Schaffer M, Forer B, Livoff A
We present a case of a 64-year-old man with a bilateral nasal obstruction. An endoscopic biopsy taken from the mass revealed a vascular clear cell tumor underneath an intact Schneiderian membrane compatible with a renal cell carcinoma. Following inquiry, it was revealed that the patient had gone through right radical nephrectomy for renal cell carcinomas 17 years prior to admission, a fact that was not known when the biopsy was taken. A following workup showed areas suspicious for metastases in lungs and maxillary sinuses. The patient started treatment with Sunitinib. On five months follow- up, the lung lesions had regressed.
{"title":"Metastatic Renal Cell Carcinoma to the Nasal Cavity, but after 17 Years","authors":"Allon I, Silenikov I, Schaffer M, Forer B, Livoff A","doi":"10.37421/jmgm.2020.14.454","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.454","url":null,"abstract":"We present a case of a 64-year-old man with a bilateral nasal obstruction. An endoscopic biopsy taken from the mass revealed a vascular clear cell tumor underneath an intact Schneiderian membrane compatible with a renal cell carcinoma. Following inquiry, it was revealed that the patient had gone through right radical nephrectomy for renal cell carcinomas 17 years prior to admission, a fact that was not known when the biopsy was taken. A following workup showed areas suspicious for metastases in lungs and maxillary sinuses. The patient started treatment with Sunitinib. On five months follow- up, the lung lesions had regressed.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/jmgm.2020.14.459
J. Sung, Wumesh Kc, Choi Mc, M. Chy, Lai Atl, J. Lin, Kwong Kwy
Stem cells are a group of undifferentiated cells capable of regenerating somatic cells through cell division and differentiation. Among the lineage of stem cells, human mesenchymal stem cells (hMSCs) are adult stem cells that can be isolated from human tissues such as bone marrow, adipose tissues and amniotic fluids. Due to the ability of high differentiability into multiple lineages of different cell types, it is highly valuable in regenerative medicine. However, low consistent maintenance of differentiability and potency of stem cells, as well as expensive cultivation of stem cells impede the research and application of hMSCs in current medical fields. Hence, it is urging to find a more defined, low cost culture media in expansion of hMSCs without reducing its differentiability and potency. In this study, we demonstrated a well-defined xeno-free conditioned medium containing human basic fibroblast growth factor (FGF2) for hMSCs cultivation. Our results showed enhanced proliferation activity and successful maintenance of the elongated and spiral morphologies of hMSCs cultured in our conditioned medium supplemented with 100 ng/mL FGF2. More importantly, the undifferentiability of hMSCs was also validated by FACS, microscopy, qPCR and Western Blotting. We believe the present finetuned growth medium could be utilized for mass production of hMSCs.
{"title":"Development of a Cost-effective Xeno-free Conditioned Medium Containing Human Basic Fibroblast Growth Factor for the Expansion of Human Mesenchymal Stem Cell","authors":"J. Sung, Wumesh Kc, Choi Mc, M. Chy, Lai Atl, J. Lin, Kwong Kwy","doi":"10.37421/jmgm.2020.14.459","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.459","url":null,"abstract":"Stem cells are a group of undifferentiated cells capable of regenerating somatic cells through cell division and differentiation. Among the lineage of stem cells, human mesenchymal stem cells (hMSCs) are adult stem cells that can be isolated from human tissues such as bone marrow, adipose tissues and amniotic fluids. Due to the ability of high differentiability into multiple lineages of different cell types, it is highly valuable in regenerative medicine. However, low consistent maintenance of differentiability and potency of stem cells, as well as expensive cultivation of stem cells impede the research and application of hMSCs in current medical fields. Hence, it is urging to find a more defined, low cost culture media in expansion of hMSCs without reducing its differentiability and potency. In this study, we demonstrated a well-defined xeno-free conditioned medium containing human basic fibroblast growth factor (FGF2) for hMSCs cultivation. Our results showed enhanced proliferation activity and successful maintenance of the elongated and spiral morphologies of hMSCs cultured in our conditioned medium supplemented with 100 ng/mL FGF2. More importantly, the undifferentiability of hMSCs was also validated by FACS, microscopy, qPCR and Western Blotting. We believe the present finetuned growth medium could be utilized for mass production of hMSCs.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"99 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77201937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/1747-0862.2020.14.469
B. Rita
{"title":"Editorial Note for Journal of Molecular Medicine","authors":"B. Rita","doi":"10.37421/1747-0862.2020.14.469","DOIUrl":"https://doi.org/10.37421/1747-0862.2020.14.469","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70041095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/1747-0862.2020.14.468
Eduardo Insignares-Carrione, B. Gómez, Andreas Ludwig Kalcker
Introduction: The aim of this review is to hypothesize the mechanism of action of chlorine dioxide in COVID-19 by studying its mechanism of action in the structure of SARS-CoV-2. Methods: Reviews of research on the mechanism of action of chlorine dioxide in viruses, particularly SARS-CoV-2and influenza viruses at the amino acid level in the viral spike were conducted and these data were transferred to the same structural amino acids of SARS-CoV-2. We used 3D computer reconstructions, use of data through cryo-electronic studies, and previous work based on ChimeraX (UCSF) augmented reality software. Results: The projection and simulation of chlorine dioxide oxidation in structural amino acids of SARS-CoV-2 allows inferring the sites in which chlorine dioxide exerts a denaturalizing action on viral structure and on human ACE2 as well as it is possible to understand the extreme speed with which it acts, which could explain the first findings of clinical observational studies of chlorine dioxide use in COVID-19 carried out by the authors in Bolivia under strict compliance of ethics committee. Conclusion: The oxidation by chlorine dioxide of critical amino acids in the spike of the coronavirus SARS-CoV-2 and in the structure of ACE2 allows us to understand the potentially therapeutic actions of chlorine dioxide dissolved in water by oral way in the COVID-19. We hope to publish clinical application trials of this promising systemic virucide soon.
{"title":"Chlorine Dioxide in COVID-19: Hypothesis about the Possible Mechanism of Molecular Action in SARS-CoV-2","authors":"Eduardo Insignares-Carrione, B. Gómez, Andreas Ludwig Kalcker","doi":"10.37421/1747-0862.2020.14.468","DOIUrl":"https://doi.org/10.37421/1747-0862.2020.14.468","url":null,"abstract":"Introduction: The aim of this review is to hypothesize the mechanism of action of chlorine dioxide in COVID-19 by studying its mechanism of action in the structure of SARS-CoV-2. Methods: Reviews of research on the mechanism of action of chlorine dioxide in viruses, particularly SARS-CoV-2and influenza viruses at the amino acid level in the viral spike were conducted and these data were transferred to the same structural amino acids of SARS-CoV-2. We used 3D computer reconstructions, use of data through cryo-electronic studies, and previous work based on ChimeraX (UCSF) augmented reality software. Results: The projection and simulation of chlorine dioxide oxidation in structural amino acids of SARS-CoV-2 allows inferring the sites in which chlorine dioxide exerts a denaturalizing action on viral structure and on human ACE2 as well as it is possible to understand the extreme speed with which it acts, which could explain the first findings of clinical observational studies of chlorine dioxide use in COVID-19 carried out by the authors in Bolivia under strict compliance of ethics committee. Conclusion: The oxidation by chlorine dioxide of critical amino acids in the spike of the coronavirus SARS-CoV-2 and in the structure of ACE2 allows us to understand the potentially therapeutic actions of chlorine dioxide dissolved in water by oral way in the COVID-19. We hope to publish clinical application trials of this promising systemic virucide soon.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-10"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70041499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/1747-0862.2020.14.460
P. Lancia, T. DeBeaumais, C. Dossier, Baudouin, T. Ulinski, G. Deschênes, É. Jacqz-Aigrain
Purpose: The objective of this study was to investigate the factors involved in mycophenolate mofetil (MMF) disposition on the risk of diarrhoea in renal transplanted children. Methods: Patients’ characteristics, immunosuppression and polymorphisms of UGT1A8, UGT1A9, UGT2B7, ABCC2, IMPDH1, and IMPDH2 genes were explored. Statistical analyses were performed using logistic regression. Results: Eighty three renal transplanted patients were included and 28/83 (33%) developed diarrhoea requiring MMF discontinuation or switched to the enteric-coated formulation EC-MPS during follow-up. In the multivariate analysis, the risk of diarrhoea was significantly higher in ABCC2 -24CC wild-type patients carrying IMPDH2 IVS7 + 10 T>C variant. Conclusion: IMPDH2 (IVS7+10T>C) and ABCC2 (c.-24C>T) are biomarkers associated with diarrhoea in children treated with MMF.
{"title":"Influence of Polymorphisms on Mycophenolate Mofetil - Induced Diarrhoea in Renal Transplanted Children","authors":"P. Lancia, T. DeBeaumais, C. Dossier, Baudouin, T. Ulinski, G. Deschênes, É. Jacqz-Aigrain","doi":"10.37421/1747-0862.2020.14.460","DOIUrl":"https://doi.org/10.37421/1747-0862.2020.14.460","url":null,"abstract":"Purpose: The objective of this study was to investigate the factors involved in mycophenolate mofetil (MMF) disposition on the risk of diarrhoea in renal transplanted children. Methods: Patients’ characteristics, immunosuppression and polymorphisms of UGT1A8, UGT1A9, UGT2B7, ABCC2, IMPDH1, and IMPDH2 genes were explored. Statistical analyses were performed using logistic regression. Results: Eighty three renal transplanted patients were included and 28/83 (33%) developed diarrhoea requiring MMF discontinuation or switched to the enteric-coated formulation EC-MPS during follow-up. In the multivariate analysis, the risk of diarrhoea was significantly higher in ABCC2 -24CC wild-type patients carrying IMPDH2 IVS7 + 10 T>C variant. Conclusion: IMPDH2 (IVS7+10T>C) and ABCC2 (c.-24C>T) are biomarkers associated with diarrhoea in children treated with MMF.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-9"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70041046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/1747-0862.2020.14.S5
Choi Mc, M. Chy, Lai Atl, J. Lin, Kwong Kwy
Different approaches are used to express recombinant proteins without the requirement of post-translational modification in Escherichia coli (E. coli). Though E. coli may have a drawback in producing endotoxin, its short division time and high expression of the final product are significant in making use as a host to produce various recombinant proteins. Inteins have been discovered in multiples microorganisms in facilitating the expression of homologous proteins and it has been used as one of the crucial tools for the production of recombinant proteins due to its unique feature in auto-excising its fusion partner, which also known as exteins. In this communication, we employed a well-established gp41-1 mini-intein to facilitate the expression of epidermal growth factor (EGF). The study revealed that though the epidermal growth factor cannot be excised from the gp41-1 mini intein during the expression, it showed the capability of gp41-1 mini intein in processing intracellular expression of soluble EGF fusion protein. Different conditions for inducing the cleavage of exteins from inteins has been studied by many research groups, and reducing condition by using the DTT works well on the C-terminal cleavage of EGF from the gp41-1 mini intein. The final purified, different concentration of EGF was mixed with homemade aqueous cream and showed to be highly active in accelerating the healing rate of patients suffering from bedsores, diabetic foot ulcers and skin rupture.
{"title":"Expression of Human Epidermal Growth Factor in Escherichia coli by Intein Approach","authors":"Choi Mc, M. Chy, Lai Atl, J. Lin, Kwong Kwy","doi":"10.37421/1747-0862.2020.14.S5","DOIUrl":"https://doi.org/10.37421/1747-0862.2020.14.S5","url":null,"abstract":"Different approaches are used to express recombinant proteins without the requirement of post-translational modification in Escherichia coli (E. coli). Though E. coli may have a drawback in producing endotoxin, its short division time and high expression of the final product are significant in making use as a host to produce various recombinant proteins. Inteins have been discovered in multiples microorganisms in facilitating the expression of homologous proteins and it has been used as one of the crucial tools for the production of recombinant proteins due to its unique feature in auto-excising its fusion partner, which also known as exteins. In this communication, we employed a well-established gp41-1 mini-intein to facilitate the expression of epidermal growth factor (EGF). The study revealed that though the epidermal growth factor cannot be excised from the gp41-1 mini intein during the expression, it showed the capability of gp41-1 mini intein in processing intracellular expression of soluble EGF fusion protein. Different conditions for inducing the cleavage of exteins from inteins has been studied by many research groups, and reducing condition by using the DTT works well on the C-terminal cleavage of EGF from the gp41-1 mini intein. The final purified, different concentration of EGF was mixed with homemade aqueous cream and showed to be highly active in accelerating the healing rate of patients suffering from bedsores, diabetic foot ulcers and skin rupture.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"1 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70041312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/JMGM.2020.14.449
Shi-Wen Jiang
{"title":"Editorial Note for Journal of Molecular and Genetic Medicine","authors":"Shi-Wen Jiang","doi":"10.37421/JMGM.2020.14.449","DOIUrl":"https://doi.org/10.37421/JMGM.2020.14.449","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-1"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.37421/jmgm.2020.14.452
A LLamos-Paneque, O Gomez-GarciaAriel, C Rivas-Iglesias, M Garzon-Castro, Hern, P ez-Iniguez, Recalde-Baez Ma
Schaf-Yang Syndrome is a rare genetic condition, produced by a mutation in the MAGEL2 gene, located at the level of chromosome 15, in the Prader-Willi Syndrome region, with which it shares some physical similarity. The phenotype is variable and ranges from fetal akinesia to an important neurobehavioral phenotype and contractures of the small finger joints that are very characteristic. The gene has a maternal imprint and the phenotype will only be expressed when the mutated allele has been transmitted parentally. We present the case of a 2-and-a-half-year-old male from Ecuador, whose most prominent signs were in the beginning a marked macroglossia that gave a certain rough facial appearance, as well as bilateral camptodactyly of the 3rd and 4th fingers. The history of a previous sister who died at age 8 with a diagnosis of hypothyroidism, and clinical similarity to this new baby, led the clinical orientation to the screening of a potentially autosomal recessive condition. The genetic tests performed as part of the differential diagnosis where to pathologies such as Becwith-Wiedeman Syndrome, Mucopolysaccharidosis and Congenital Hypothyroidism. The clinical elements of this case are compared with those described in the literature with this rare genetic syndrome, and the clinical evolution of dysmorphic patterns in young children is emphasized in order to achieve a better diagnostic certainty. We emphasize the features of macroglossia as a probably expanding phenotype in this rare condition. The presentation of this clinical case shows that the factors that alter the segregation of simple mutations such as the case of the genetic imprint, found in this patient, constitute an event that hinders the interpretation of inheritance patterns and should always be taken into account in genetic counseling.
{"title":"Schaaf-Yang Syndrome: An Example of Genomic Imprinting and Expanding Phenotype","authors":"A LLamos-Paneque, O Gomez-GarciaAriel, C Rivas-Iglesias, M Garzon-Castro, Hern, P ez-Iniguez, Recalde-Baez Ma","doi":"10.37421/jmgm.2020.14.452","DOIUrl":"https://doi.org/10.37421/jmgm.2020.14.452","url":null,"abstract":"Schaf-Yang Syndrome is a rare genetic condition, produced by a mutation in the MAGEL2 gene, located at the level of chromosome 15, in the Prader-Willi Syndrome region, with which it shares some physical similarity. The phenotype is variable and ranges from fetal akinesia to an important neurobehavioral phenotype and contractures of the small finger joints that are very characteristic. The gene has a maternal imprint and the phenotype will only be expressed when the mutated allele has been transmitted parentally. We present the case of a 2-and-a-half-year-old male from Ecuador, whose most prominent signs were in the beginning a marked macroglossia that gave a certain rough facial appearance, as well as bilateral camptodactyly of the 3rd and 4th fingers. The history of a previous sister who died at age 8 with a diagnosis of hypothyroidism, and clinical similarity to this new baby, led the clinical orientation to the screening of a potentially autosomal recessive condition. The genetic tests performed as part of the differential diagnosis where to pathologies such as Becwith-Wiedeman Syndrome, Mucopolysaccharidosis and Congenital Hypothyroidism. The clinical elements of this case are compared with those described in the literature with this rare genetic syndrome, and the clinical evolution of dysmorphic patterns in young children is emphasized in order to achieve a better diagnostic certainty. We emphasize the features of macroglossia as a probably expanding phenotype in this rare condition. The presentation of this clinical case shows that the factors that alter the segregation of simple mutations such as the case of the genetic imprint, found in this patient, constitute an event that hinders the interpretation of inheritance patterns and should always be taken into account in genetic counseling.","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"14 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70054962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-05-24DOI: 10.4172/1747-0862.1000424
B. Faye, Dieng Fb, R. Charlebois, H. Sarr, D. Sg, Diagne Mm, M. Sembéne, A. Dièye
{"title":"Comparison of Roche COBASandreg;AmpliPrep/COBASandreg;TaqManHIV-1v2.0 and Abbott m2000sp/m2000rt for the Measurement of HIV-1 Viral Load in Senegal","authors":"B. Faye, Dieng Fb, R. Charlebois, H. Sarr, D. Sg, Diagne Mm, M. Sembéne, A. Dièye","doi":"10.4172/1747-0862.1000424","DOIUrl":"https://doi.org/10.4172/1747-0862.1000424","url":null,"abstract":"","PeriodicalId":88269,"journal":{"name":"Journal of molecular and genetic medicine : an international journal of biomedical research","volume":"13 1","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2019-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70955764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：