Hyperhomocysteinemia is a risk factor for cardiovascular disease in patients on hemodialysis. Cau... more Hyperhomocysteinemia is a risk factor for cardiovascular disease in patients on hemodialysis. Causes include genetic enzyme deficiencies, chronic renal failure, and vitamin deficiencies. Homocysteine correlates negatively with folate status. In patients on hemodialysis, supraphysiologic doses of B vitamins and folate reduce homocysteine by 26-33%. No study has examined the effect of a standard multivitamin (Nephro-Vite Rx), containing B vitamins and 1 mg of folate, on erythrocyte-folate (RBC-folate) and homocysteine in patients on dialysis. We examined RBC-folate and homocysteine levels in 11 stable chronic patients on hemodialysis, mean duration of dialysis 9.8+/-4.1 months, who were not on vitamin or folate supplements, and repeated these levels after 3 weeks of once daily Nephro-Vite Rx dosage. Plasma homocysteine levels fell by 23.7% from 27.8+/-5.9 to 21.2+/-6.6 micromol/L (p = 0.007), whereas RBC-folate levels rose 60% from 631.2+/-208.3 to 1007.5+/-423.7 nmol/L (p = 0.001). The optimum dose of B vitamins and folate remains to be established, and a clinical benefit from lowering homocysteine has not yet been demonstrated. In summary, a standard multivitamin such as Nephro-Vite Rx reduces plasma homocysteine levels and increases RBC-folate levels in patients on hemodialysis. Our results may have implications for the modification of cardiovascular risk in these patients.
To allow a morphological evaluation of pseudocapsule vasculature of uterine leiomyomas (ULs). Pre... more To allow a morphological evaluation of pseudocapsule vasculature of uterine leiomyomas (ULs). Preliminary prospective study. University-affiliated hospitals. Ten women with symptomatic myomas warranting laparotomic hysterectomies. Pseudocapsules of ULs were isolated from the surrounding myometrium, for a digital reconstruction of pseudocapsule vessels and analysis by three-dimensional structure applying the Allen-Cahn mathematical model. The images were converted in a matrix and an appropriate created software elaborated the images. The "nonlocal" Allen-Cahn mathematical model was applied to reduce the image noise and to regulate vessel outlines obtaining a "clean" image. The geometrical characteristics and morphology of vessel pseudocapsule network of ULs. The disarray in vascular architecture was evident from the absence of vessel parallelism and variable intervascular distances. An abnormal vascular branching of pseudocapsule was indicated by the different density of vessels per space and some vascular walls without interruption indicated vessel tortuosity. There were vascular spaces, which did not communicate with other vessels ("cul-de-sac" vessels). Pseudocapsule vasculature showed increase of tortuosity, disarray, abnormal branching and the presence of "cul-de-sac" vessels. Three-dimensional reconstruction of leiomyoma pseudocapsule vasculature network, despite the benign nature of ULs, showed geometrical characteristics of malignant neoplasm vessels.
Journal of Biological Regulators and Homeostatic Agents
von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in lit... more von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in literature there are some cases reported of epidural analgesia for labor pain in pregnancies with Von Willebrand's disease, the technique is not free from risk of neurolocal complications. Authors reported a case of spontaneous labor in a pregnant woman with type II vWD, delivered under local analgesia administered through a continuous intravenous infusion of remifentanil integrated by boli. A 34-year-old woman at the 39th week of her second pregnancy was admitted for an active labor of a single fetus in cephalic presentation. The patient had been diagnosed with type II vWD by a hematologist during her first pregnancy. The patient coagulation panel was as follows: a reduction of VIIIth factor concentration (21 percent); a normal value of vWD functional assay; an increase of vWf:Ag (antigen) and a reduction of XIth factor. During labor she was put on remifentanil in PCA (patient controll...
International Journal of Gynecological Cancer, 2011
IntroductionThe human papillomavirus (HPV) family is characterized by minimal genotypic differenc... more IntroductionThe human papillomavirus (HPV) family is characterized by minimal genotypic differences corresponding to different virus types. The aim of this study was to detect the HPV coinfections and the inner genotype in a series of 336 cervical-vaginal samples.MethodsA total of 336 cervical-vaginal samples were taken from 2007 to 2009 using specific molecular techniques such as molecular sequencing and hybridizations. The genome amplification of the L1 open reading frame was analyzed by real-time polymerase chain reaction; direct sequencing was performed by SYBR green fluorescent molecule and degenerate primers MY09 and MY11. The HPV genotyping was accomplished via oligonucleotide probe hybridization. The phylogenetic correlations in coinfections were analyzed by sequence homology of the L1 genomic region. Identified genotypes were then compared.ResultsHuman papillomavirus positivity was observed in 125 cases (37.2%), with 21 cases (16.8%) of HPV presence in coinfections. Coinfec...
Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a v... more Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a variable clinical and hematological situation related to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it, it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular investigation of beta globin genes, found that the observed variant was due to the presence ...
Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a v... more Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a variable clinical and hematological situation related to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it, it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular investigation of beta globin genes, found that the observed variant was due to the presence of a genetic defect leading to hemoglobin O Arab synthesis. Evidence suggests that molecular analysis of globin genes provides the most effective and correct way to correlate the detected biochemical picture with its associated genetic defect. The only biochemical study in the presented case determines an incorrect clinical evaluation with consequent inaccurate prognosis. The mutation detected in this work can be identified using a simple and inexpensive kit. This would generate, in economic terms, significant savings associated with a correct diagnosis.
European review for medical and pharmacological sciences, 2021
OBJECTIVE Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrang... more OBJECTIVE Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrangements smaller than 5-10 megabase (Mb), for which classical cytogenetic approaches are not sensitive enough. The use of Array-CGH has increased of 10-20% the detection rate of unbalanced cryptic rearrangements, such as deletions and/or duplications. PATIENTS AND METHODS We present here the first report of a patient with 7q35q36.3 microdeletion and concomitant 20q13.2q13.33 microduplication detected by array-CGH and confirmed by reiterative FISH experiments associated with dysmorphism, development delay, Long QT syndrome (LQTS), complex congenital heart disease, pulmonary hypertension, hypotonia, respiratory distress, cognitive deficit. RESULTS We proved that this unbalanced rearrangement was due to an adjacent-1 segregation that occurred in the mother, carrier of a balanced translocation between chromosomes 7 and 20. The same unbalanced rearrangements were also found in the proband's...
Journal of biological regulators and homeostatic agents, 2011
von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in lit... more von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in literature there are some cases reported of epidural analgesia for labor pain in pregnancies with Von Willebrand's disease, the technique is not free from risk of neurolocal complications. Authors reported a case of spontaneous labor in a pregnant woman with type II vWD, delivered under local analgesia administered through a continuous intravenous infusion of remifentanil integrated by boli. A 34-year-old woman at the 39th week of her second pregnancy was admitted for an active labor of a single fetus in cephalic presentation. The patient had been diagnosed with type II vWD by a hematologist during her first pregnancy. The patient coagulation panel was as follows: a reduction of VIIIth factor concentration (21 percent); a normal value of vWD functional assay; an increase of vWf:Ag (antigen) and a reduction of XIth factor. During labor she was put on remifentanil in PCA (patient controll...
European review for medical and pharmacological sciences, 2010
The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 ... more The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolated occurrence or part of a more complex syndrome and it is associated with long-term respiratory, nutritional, and developmental difficulties. Stickler syndrome (SS) is a rare autosomal dominant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is diagnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic criterion. The most frequent diagnosis in patients with syndromic Pierre Robin sequence is Stickler syndrome, which may be complicated by congenital high myopia and substantial risk of retinal detachment. However, cases of Stickler syndrome with probable visual complic...
European review for medical and pharmacological sciences, 2011
OBJECTIVES The term beta-thalassemia includes all those hereditary disturbances of the hemoglobin... more OBJECTIVES The term beta-thalassemia includes all those hereditary disturbances of the hemoglobin (Hb), transferred trough a recessive autosomal mechanism, due to a reduced or else defective synthesis of beta globin sequences. The aim of this paper is to highlight as sometimes the only biochemical diagnosis is not exhaustive and a molecular diagnostic widening is necessary to detect the genetic deficiency that is the reason of the beta-thalassemic trait. CASE REPORT AND RESULTS To improve this theory the following clinical case is reported: a 29 years old girl that was 11 weeks pregnant addressed us to receive the prenatal screening test related to the first three-month pregnancy period. The biochemical and hematological tests highlighted that Mrs. D.F. was a carrier of the beta-thalassemic trait, (MCV 63fl decrease, MCH 30pg, HbA2: 4.4 increase, HbF:1.5 increase, red blood cells 5.92 x 10(6)/ul and Hb 12.4 g/dl), that has been confirmed trough our molecular analysis (genotype: beta...
BACKGROUND The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation... more BACKGROUND The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation of AR due to a mutation that inactivate male sexual differentiation, and causes a spectrum of phenotypic anomalies having as a common aspect the loss of reproductive characteristics. PATIENTS In this paper the clinical, endocrinological and molecular features of three patients are reported. The first case concerns a 17 years old patient, the second an infant suffering from inguinal hernia that has been surgically corrected when he was 3 months old and finally the third case concerns a 57 years old woman. RESULTS All the subjects had a common primary amenorrhea and a following pelvic echography highlighted the absence of internal genital organs and the presence of a dead-end vagina. All the patients are characterized by a normal male karyotype and present on the short arm of the Y chromosome the SRY gene. Moreover, FISH revealed the presence of androgen receptor gene on the X chromosome ...
INTRODUCTION Pelvic arteries embolization (PAE) can be described as an obstetric procedure effect... more INTRODUCTION Pelvic arteries embolization (PAE) can be described as an obstetric procedure effective in emergencies, to use especially in managing uncontrollable acute uterine hemorrhage, if resistant to medical therapy. This procedure leads to immediate control of hemorrhages and restores cardiovascular status, especially in critical patients. PAE can be used as an alternative to removing organs. PURPOSE OF STUDY To utilize the PAE in local anesthesia for management of acute uterine hemorrhage for cervical myoma in a critical patients, a fertile woman with concomitant cardiovascular stroke and in high-dosage of antithrombosis therapy, with severe anemia. MATERIAL ANDS METHODS: This procedure was used in an University affiliated Hospital, by a selective catheterization of the left hypogastric artery with an a-magnetic coil and super-selective catheterization of the right uterine artery, instilling a mixture of micro-particles and an absorbable haemostatic gelatin. RESULTS Authors ha...
OBJECTIVE Our study aims to demonstrate that the use in the preconceptional period until the 24th... more OBJECTIVE Our study aims to demonstrate that the use in the preconceptional period until the 24th week of pregnancy of inositol and folic acid, first of all, preserves the product of conception from neural tube defects (NTDs) and then, thanks to inositol supplementation, it possibly counteracts and prevents the onset of maternal gestational diabetes (GDM). PATIENTS AND METHODS We have collected data derived from pregnant women arrived at our laboratory, from January 2014 to January 2016, with no family history of type 2 diabetes and hypertension. The first group (n = 68 women) was treated from the preconceptional period until the 24th week of pregnancy with 1.75 g/day myo-inositol, 250 mg/day D-chiro-inositol, 12.5 mg/day Zinc pidolate, 100 mg/day methylsulfonylmethane, 120 mg/day Vitamin C and 400 mcg/day (6S)-5-methyltetrahydrofolic acid. The control group (n = 72) was only treated with 400 mcg/day folic acid. The main outcome measure was the prevalence of maternal GDM. Secondary ...
Hyperhomocysteinemia is a risk factor for cardiovascular disease in patients on hemodialysis. Cau... more Hyperhomocysteinemia is a risk factor for cardiovascular disease in patients on hemodialysis. Causes include genetic enzyme deficiencies, chronic renal failure, and vitamin deficiencies. Homocysteine correlates negatively with folate status. In patients on hemodialysis, supraphysiologic doses of B vitamins and folate reduce homocysteine by 26-33%. No study has examined the effect of a standard multivitamin (Nephro-Vite Rx), containing B vitamins and 1 mg of folate, on erythrocyte-folate (RBC-folate) and homocysteine in patients on dialysis. We examined RBC-folate and homocysteine levels in 11 stable chronic patients on hemodialysis, mean duration of dialysis 9.8+/-4.1 months, who were not on vitamin or folate supplements, and repeated these levels after 3 weeks of once daily Nephro-Vite Rx dosage. Plasma homocysteine levels fell by 23.7% from 27.8+/-5.9 to 21.2+/-6.6 micromol/L (p = 0.007), whereas RBC-folate levels rose 60% from 631.2+/-208.3 to 1007.5+/-423.7 nmol/L (p = 0.001). The optimum dose of B vitamins and folate remains to be established, and a clinical benefit from lowering homocysteine has not yet been demonstrated. In summary, a standard multivitamin such as Nephro-Vite Rx reduces plasma homocysteine levels and increases RBC-folate levels in patients on hemodialysis. Our results may have implications for the modification of cardiovascular risk in these patients.
To allow a morphological evaluation of pseudocapsule vasculature of uterine leiomyomas (ULs). Pre... more To allow a morphological evaluation of pseudocapsule vasculature of uterine leiomyomas (ULs). Preliminary prospective study. University-affiliated hospitals. Ten women with symptomatic myomas warranting laparotomic hysterectomies. Pseudocapsules of ULs were isolated from the surrounding myometrium, for a digital reconstruction of pseudocapsule vessels and analysis by three-dimensional structure applying the Allen-Cahn mathematical model. The images were converted in a matrix and an appropriate created software elaborated the images. The "nonlocal" Allen-Cahn mathematical model was applied to reduce the image noise and to regulate vessel outlines obtaining a "clean" image. The geometrical characteristics and morphology of vessel pseudocapsule network of ULs. The disarray in vascular architecture was evident from the absence of vessel parallelism and variable intervascular distances. An abnormal vascular branching of pseudocapsule was indicated by the different density of vessels per space and some vascular walls without interruption indicated vessel tortuosity. There were vascular spaces, which did not communicate with other vessels ("cul-de-sac" vessels). Pseudocapsule vasculature showed increase of tortuosity, disarray, abnormal branching and the presence of "cul-de-sac" vessels. Three-dimensional reconstruction of leiomyoma pseudocapsule vasculature network, despite the benign nature of ULs, showed geometrical characteristics of malignant neoplasm vessels.
Journal of Biological Regulators and Homeostatic Agents
von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in lit... more von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in literature there are some cases reported of epidural analgesia for labor pain in pregnancies with Von Willebrand's disease, the technique is not free from risk of neurolocal complications. Authors reported a case of spontaneous labor in a pregnant woman with type II vWD, delivered under local analgesia administered through a continuous intravenous infusion of remifentanil integrated by boli. A 34-year-old woman at the 39th week of her second pregnancy was admitted for an active labor of a single fetus in cephalic presentation. The patient had been diagnosed with type II vWD by a hematologist during her first pregnancy. The patient coagulation panel was as follows: a reduction of VIIIth factor concentration (21 percent); a normal value of vWD functional assay; an increase of vWf:Ag (antigen) and a reduction of XIth factor. During labor she was put on remifentanil in PCA (patient controll...
International Journal of Gynecological Cancer, 2011
IntroductionThe human papillomavirus (HPV) family is characterized by minimal genotypic differenc... more IntroductionThe human papillomavirus (HPV) family is characterized by minimal genotypic differences corresponding to different virus types. The aim of this study was to detect the HPV coinfections and the inner genotype in a series of 336 cervical-vaginal samples.MethodsA total of 336 cervical-vaginal samples were taken from 2007 to 2009 using specific molecular techniques such as molecular sequencing and hybridizations. The genome amplification of the L1 open reading frame was analyzed by real-time polymerase chain reaction; direct sequencing was performed by SYBR green fluorescent molecule and degenerate primers MY09 and MY11. The HPV genotyping was accomplished via oligonucleotide probe hybridization. The phylogenetic correlations in coinfections were analyzed by sequence homology of the L1 genomic region. Identified genotypes were then compared.ResultsHuman papillomavirus positivity was observed in 125 cases (37.2%), with 21 cases (16.8%) of HPV presence in coinfections. Coinfec...
Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a v... more Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a variable clinical and hematological situation related to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it, it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular investigation of beta globin genes, found that the observed variant was due to the presence ...
Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a v... more Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a variable clinical and hematological situation related to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it, it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular investigation of beta globin genes, found that the observed variant was due to the presence of a genetic defect leading to hemoglobin O Arab synthesis. Evidence suggests that molecular analysis of globin genes provides the most effective and correct way to correlate the detected biochemical picture with its associated genetic defect. The only biochemical study in the presented case determines an incorrect clinical evaluation with consequent inaccurate prognosis. The mutation detected in this work can be identified using a simple and inexpensive kit. This would generate, in economic terms, significant savings associated with a correct diagnosis.
European review for medical and pharmacological sciences, 2021
OBJECTIVE Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrang... more OBJECTIVE Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrangements smaller than 5-10 megabase (Mb), for which classical cytogenetic approaches are not sensitive enough. The use of Array-CGH has increased of 10-20% the detection rate of unbalanced cryptic rearrangements, such as deletions and/or duplications. PATIENTS AND METHODS We present here the first report of a patient with 7q35q36.3 microdeletion and concomitant 20q13.2q13.33 microduplication detected by array-CGH and confirmed by reiterative FISH experiments associated with dysmorphism, development delay, Long QT syndrome (LQTS), complex congenital heart disease, pulmonary hypertension, hypotonia, respiratory distress, cognitive deficit. RESULTS We proved that this unbalanced rearrangement was due to an adjacent-1 segregation that occurred in the mother, carrier of a balanced translocation between chromosomes 7 and 20. The same unbalanced rearrangements were also found in the proband's...
Journal of biological regulators and homeostatic agents, 2011
von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in lit... more von Willebrand 's disease (vWD) is the commonest inherited bleeding disorder. Although in literature there are some cases reported of epidural analgesia for labor pain in pregnancies with Von Willebrand's disease, the technique is not free from risk of neurolocal complications. Authors reported a case of spontaneous labor in a pregnant woman with type II vWD, delivered under local analgesia administered through a continuous intravenous infusion of remifentanil integrated by boli. A 34-year-old woman at the 39th week of her second pregnancy was admitted for an active labor of a single fetus in cephalic presentation. The patient had been diagnosed with type II vWD by a hematologist during her first pregnancy. The patient coagulation panel was as follows: a reduction of VIIIth factor concentration (21 percent); a normal value of vWD functional assay; an increase of vWf:Ag (antigen) and a reduction of XIth factor. During labor she was put on remifentanil in PCA (patient controll...
European review for medical and pharmacological sciences, 2010
The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 ... more The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolated occurrence or part of a more complex syndrome and it is associated with long-term respiratory, nutritional, and developmental difficulties. Stickler syndrome (SS) is a rare autosomal dominant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is diagnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic criterion. The most frequent diagnosis in patients with syndromic Pierre Robin sequence is Stickler syndrome, which may be complicated by congenital high myopia and substantial risk of retinal detachment. However, cases of Stickler syndrome with probable visual complic...
European review for medical and pharmacological sciences, 2011
OBJECTIVES The term beta-thalassemia includes all those hereditary disturbances of the hemoglobin... more OBJECTIVES The term beta-thalassemia includes all those hereditary disturbances of the hemoglobin (Hb), transferred trough a recessive autosomal mechanism, due to a reduced or else defective synthesis of beta globin sequences. The aim of this paper is to highlight as sometimes the only biochemical diagnosis is not exhaustive and a molecular diagnostic widening is necessary to detect the genetic deficiency that is the reason of the beta-thalassemic trait. CASE REPORT AND RESULTS To improve this theory the following clinical case is reported: a 29 years old girl that was 11 weeks pregnant addressed us to receive the prenatal screening test related to the first three-month pregnancy period. The biochemical and hematological tests highlighted that Mrs. D.F. was a carrier of the beta-thalassemic trait, (MCV 63fl decrease, MCH 30pg, HbA2: 4.4 increase, HbF:1.5 increase, red blood cells 5.92 x 10(6)/ul and Hb 12.4 g/dl), that has been confirmed trough our molecular analysis (genotype: beta...
BACKGROUND The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation... more BACKGROUND The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation of AR due to a mutation that inactivate male sexual differentiation, and causes a spectrum of phenotypic anomalies having as a common aspect the loss of reproductive characteristics. PATIENTS In this paper the clinical, endocrinological and molecular features of three patients are reported. The first case concerns a 17 years old patient, the second an infant suffering from inguinal hernia that has been surgically corrected when he was 3 months old and finally the third case concerns a 57 years old woman. RESULTS All the subjects had a common primary amenorrhea and a following pelvic echography highlighted the absence of internal genital organs and the presence of a dead-end vagina. All the patients are characterized by a normal male karyotype and present on the short arm of the Y chromosome the SRY gene. Moreover, FISH revealed the presence of androgen receptor gene on the X chromosome ...
INTRODUCTION Pelvic arteries embolization (PAE) can be described as an obstetric procedure effect... more INTRODUCTION Pelvic arteries embolization (PAE) can be described as an obstetric procedure effective in emergencies, to use especially in managing uncontrollable acute uterine hemorrhage, if resistant to medical therapy. This procedure leads to immediate control of hemorrhages and restores cardiovascular status, especially in critical patients. PAE can be used as an alternative to removing organs. PURPOSE OF STUDY To utilize the PAE in local anesthesia for management of acute uterine hemorrhage for cervical myoma in a critical patients, a fertile woman with concomitant cardiovascular stroke and in high-dosage of antithrombosis therapy, with severe anemia. MATERIAL ANDS METHODS: This procedure was used in an University affiliated Hospital, by a selective catheterization of the left hypogastric artery with an a-magnetic coil and super-selective catheterization of the right uterine artery, instilling a mixture of micro-particles and an absorbable haemostatic gelatin. RESULTS Authors ha...
OBJECTIVE Our study aims to demonstrate that the use in the preconceptional period until the 24th... more OBJECTIVE Our study aims to demonstrate that the use in the preconceptional period until the 24th week of pregnancy of inositol and folic acid, first of all, preserves the product of conception from neural tube defects (NTDs) and then, thanks to inositol supplementation, it possibly counteracts and prevents the onset of maternal gestational diabetes (GDM). PATIENTS AND METHODS We have collected data derived from pregnant women arrived at our laboratory, from January 2014 to January 2016, with no family history of type 2 diabetes and hypertension. The first group (n = 68 women) was treated from the preconceptional period until the 24th week of pregnancy with 1.75 g/day myo-inositol, 250 mg/day D-chiro-inositol, 12.5 mg/day Zinc pidolate, 100 mg/day methylsulfonylmethane, 120 mg/day Vitamin C and 400 mcg/day (6S)-5-methyltetrahydrofolic acid. The control group (n = 72) was only treated with 400 mcg/day folic acid. The main outcome measure was the prevalence of maternal GDM. Secondary ...
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Papers by D. Dell'Edera
to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it,
it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan
ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of
hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated
with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular
investigation of beta globin genes, found that the observed variant was due to the presence of a genetic defect leading to hemoglobin O Arab synthesis.
Evidence suggests that molecular analysis of globin genes provides the most effective and correct way to correlate the detected biochemical picture with
its associated genetic defect. The only biochemical study in the presented case determines an incorrect clinical evaluation with consequent inaccurate
prognosis. The mutation detected in this work can be identified using a simple and inexpensive kit. This would generate, in economic terms, significant
savings associated with a correct diagnosis.
to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it,
it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan
ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of
hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated
with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular
investigation of beta globin genes, found that the observed variant was due to the presence of a genetic defect leading to hemoglobin O Arab synthesis.
Evidence suggests that molecular analysis of globin genes provides the most effective and correct way to correlate the detected biochemical picture with
its associated genetic defect. The only biochemical study in the presented case determines an incorrect clinical evaluation with consequent inaccurate
prognosis. The mutation detected in this work can be identified using a simple and inexpensive kit. This would generate, in economic terms, significant
savings associated with a correct diagnosis.