Alice Albu - Academia.edu (original) (raw)
Papers by Alice Albu
Mediterranean journal of hematology and infectious diseases, 2017
Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complication... more Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder. Also to be aware of the side effects, contraindications and monitoring of sex steroid therapy. In this paper, practical ICET-A recommendations for the management of hypogonadism in adult females with TM are addressed. In March 2015, the Coordinator of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) conducted a two-step survey to assess the attitudes and practices of doctors in the ICET-A network taking care of adult female TM patients w...
Mediterranean journal of hematology and infectious diseases, 2016
In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Ad... more In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) implemented a two-step survey on central adrenal insufficiency (CAI) assessment in TM patients and after analysis of the collected data, recommendations for the assessment of hypothalamic-pituitary- adrenal (HPA) axis in clinical practice were defined. To ascertain the current practice for assessment of CAI in thalassemia, the Coordinator of ICET-A sent two questionnaires by email: i) The first to evaluate the current interpretation of basal serum cortisol level (first step) and ii) The second to assess the current usage of ACTH test and the variability in practice" (second step). Based on the surveys the core ICET-A group prepared the recommendations for the assessment of suspected CAI in thalassemia (third step). A total of 19 thalassemologists/endocrinologists have participated in the first survey and 35 specialists participated in the second step quest...
Life
Congenital adrenal hyperplasia (CAH) due to 17-hydroxylase deficiency (17OHD) is a rare disease a... more Congenital adrenal hyperplasia (CAH) due to 17-hydroxylase deficiency (17OHD) is a rare disease accounting for less than 1% of cases of CAH. In female patients, fertility is severely affected mainly due to constantly increased progesterone affecting endometrium receptivity and implantation. The optimal treatment for infertility in these patients is not clearly established, with only a few recent case reports of successful pregnancies available in the literature. Hereby, we present the case of an infertile female patient with 17OHD who obtained pregnancy through an in vitro fertilization (IVF) freeze-all strategy and particularities of association with adrenal autoimmunity. A 32-year-old infertile female patient was referred for infertility evaluation and treatment. She had normal sex development and menstrual history with oligomenorrhea alternating with normal menstrual cycles. During the evaluation, a reduced ovarian reserve and obstruction of the left fallopian tube were identifie...
Romanian Journal of Pediatrics
Cutis laxa syndromes is a rare, multisystem disorder, which primary involves the skin, caused by ... more Cutis laxa syndromes is a rare, multisystem disorder, which primary involves the skin, caused by various mutations in genes that code structural or functional components of the elastic fiber, resulting in heterogenous manifestations. Diagnosis is primarily based on the physical examination, but supported by molecular tests, and guides treatment and monitoring of the patients. Endocrinological complications are sparsely described, with short stature, osteoporosis and fractures being the most frequent. The precise mechanisms are not elucidated and reports about condition-specific treatments are rare. This review provides an overview of the endocrinological disturbances reported in association with cutis laxa syndromes.
Romanian Journal of Pediatrics
Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and geneti... more Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and genetical variability characterized by typical facial features, growth impairment and multi-organ anomalies. It is caused by mutations in the cohesin complex that is involved in regulation of gene expression. Growth disturbances are a major feature of the syndrome and have various underlying mechanisms. Other associations regarding endocrine function are represented by disturbances in the hypothalamic-pituitary axis, decreased bone density associated with fractures and genital malformations associated with menstrual irregularities and altered fertility.
Problemy e̊ndokrinologii, Sep 22, 2016
Endocrine Abstracts, 2017
Revista de Chimie, 2020
In stimulated cycles the endometrium could be more advanced than the embryos, with a possible neg... more In stimulated cycles the endometrium could be more advanced than the embryos, with a possible negative impact on their implantation capacity. Therefore, there is an ongoing debate regarding the best transfer strategy: freeze-all versus fresh embryos transfer. Our study aimed to analyse if the frozen only embryos-transfer strategy for in vitro fertilisation (IVF) has higher clinical pregnancy rate (CPR) than the traditionally fresh transfer. We performed a retrospective study in a private centre of reproductive medicine. We included only patients who performed fresh embryo transfers (n=245) and patients with all the embryos frozen and then transferred into a non-stimulated cycle (n=117). The reasons for delayed transfer were an increased risk of ovarian hyperstimulation syndrome or the increase of late follicular phase serum progesterone level. The mean age of the study group was 34.33�b4.28 years and mean AMH was 3.68�b3.56 ng/mL. Patients with fresh transfer were significantly olde...
We report the case of a male patient 3.2 years old who presented for endocrinological evaluation ... more We report the case of a male patient 3.2 years old who presented for endocrinological evaluation of short stature. Medical history: congenital hypothyroidism treated with levo-thyroxin, congenital cataract, pseudoaphakia, hiatal hernia, micturition disorder. The patient was born small for gestation age (SGA) with birth weight of 2080 g and birth length 41 cm at 38 weeks of gestation Clinical exam: severe short stature (-4,08 standard deviations, SD), facial dysmorphic features, lax, thin skin with vascular markings,, body weight at the upper normal range (BMI at the 80 percentile) and decreased growth velocity (-1,76 SD in the last year). Paraclinical exams: IGF1=111 ng/ml (normal range 49-283), peek growth hormone (GH) during two stimulation tests of 8,07 ng/ml and 2,98 ng/ml, Adrenal and thyroid tests normal bone age: 3 years pituitary MRI: pituitary hypoplasia Diagnosis: short stature due to SGA and growth hormone deficiency Treatment: somatropinum 0,035 mcg/kg body weight/day Th...
presented at: Chudley, A. E., & Moroz, S. P. (1991). Floating-Harbor syndrome and celiac disease.... more presented at: Chudley, A. E., & Moroz, S. P. (1991). Floating-Harbor syndrome and celiac disease. American Journal of Medical Genetics, 38(4), 562–4. http://doi.org/10.1002/ajmg.1320380413. Hersh, J. H., Groom, K. R., Yen, F. F., & Verdi, G. D. (1998). Changing phenotype in Floating-Harbor syndrome. American Journal of Medical Genetics, 76(1), 58–61. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9508066. Kniffin, C. (2014). FLOATING-HARBOR SYNDROME; FLHS. Retrieved from http://omim.org/entry/136140. Nagasaki, K., Asami, T., Sato, H., Ogawa, Y., Kikuchi, T., Saitoh, A., ... Fukami, M. (2014). Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. American Journal of Medical Genetics. Part A, 164A(3), 731–5. http://doi.org/10.1002/ajmg.a.36314. Nikkel, S. M., Dauber, A., de Munnik, S., Connolly, M., Hood, R. L., Caluseriu, O., ... Boycott, K. M. (2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 indivi...
Infertility and Assisted Reproduction [Working Title], 2021
Polycystic ovary syndrome (PCOS) is a frequent disorder affecting women of reproductive age chara... more Polycystic ovary syndrome (PCOS) is a frequent disorder affecting women of reproductive age characterized by infertility. Affected endometrial receptivity seems to contribute to decreased fertility of these patients as suggested by several studies. Understanding the mechanism behind this reduced endometrial receptivity could contribute to discovery of new therapeutic targets for infertility of PCOS. The aim of the paper is to review the current data regarding endometrial receptivity in PCOS patients, the potential mechanisms involved with particular focus on recent findings as the impact of gut microbiota on endometrium, the relationship between vitamin D and endometrial receptivity and the different impact of letrozole and clomiphene citrate on endometrial receptivity in infertile PCOS women.
Testes and Ovaries - Functional and Clinical Differences and Similarities, Dec 20, 2017
The increasing age seems to have a negative impact on reproductive functions not only in women bu... more The increasing age seems to have a negative impact on reproductive functions not only in women but also in men. Therefore, our aim was to review the data available in the literature regarding the impact of advancing age on fertility and the mechanisms underlying this association in both genders. The available data suggest that the effects of age on ovarian function cause a decrease in fertility starting 13 years before menopause. Statistics show that 10% of women will have a decreased fertility starting with the age of 30. The impact of age on ovary is due to both decreased number and quality of the oocytes, resulting in a high rate of chromosomal aneuploidy in the embryo and mitochondria dysfunction. Assisted reproductive technologies aiming to identify competent embryo were created but for the moment the results are unsatisfactory. On the other hand, in men, the semen quality and testicular function were found to gradually decrease with age and most of the studies also describe a negative impact on fertility. The mechanisms underlying decreased fertility are mainly genetic and epigenetics changes. However, if the effects of age on male fertility in men can be overcome by assisted reproductive technologies is not clear yet as the results of the studies are inconsistent.
Technium Social Sciences Journal, 2020
Betathalassemic patients demonstrate an increased rate of extracardiac vascular complications, bu... more Betathalassemic patients demonstrate an increased rate of extracardiac vascular complications, but very low prevalence for coronary artery disease. Computed tomography (CT) achieves excellent tissue characterization, with high spatial resolution and has developed as a gold standard for noninvasive angiography and calcium score assessment. Methods. We examined 7 patients with major beta-thalassemia and 7 patients who had an indication for cardiac CT for resting ECG changes, without symptoms of angina pectoris. We investigated the coronary atherosclerosis by assessing the coronary artery calcium (CAC) and arterial stifness. Usual tests and echocardiography measurement were performed. Cardiac computed tomography determined left ventricular mass, left ventricular ejection fraction (LVEF), coronary calcium score and coronary anatomy. An analysis of myocardial density was also performed. Artery stiffness was assessed by the cardio ankle vascular index (CAVI). Results. Arterial stiffne...
Endocrine Abstracts, 2018
Endocrine Abstracts, 2017
Acta Bio Medica : Atenei Parmensis, 2019
In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications... more In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented. The commonest endocrine complications registered in 3.114 TM adults are CH and GHD (4.6 % and 3.0 %, respectively), followed by latent hypocortisolism (1.2%). In 13 patients (0.41%) a cytological papillary or follicular thyroid carcinoma was diagnosed in 11 and 2 patients, respectively, and a lobectomy or thyroide...
Mediterranean journal of hematology and infectious diseases, 2017
Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complication... more Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder. Also to be aware of the side effects, contraindications and monitoring of sex steroid therapy. In this paper, practical ICET-A recommendations for the management of hypogonadism in adult females with TM are addressed. In March 2015, the Coordinator of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) conducted a two-step survey to assess the attitudes and practices of doctors in the ICET-A network taking care of adult female TM patients w...
Mediterranean journal of hematology and infectious diseases, 2016
In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Ad... more In March 2015, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) implemented a two-step survey on central adrenal insufficiency (CAI) assessment in TM patients and after analysis of the collected data, recommendations for the assessment of hypothalamic-pituitary- adrenal (HPA) axis in clinical practice were defined. To ascertain the current practice for assessment of CAI in thalassemia, the Coordinator of ICET-A sent two questionnaires by email: i) The first to evaluate the current interpretation of basal serum cortisol level (first step) and ii) The second to assess the current usage of ACTH test and the variability in practice" (second step). Based on the surveys the core ICET-A group prepared the recommendations for the assessment of suspected CAI in thalassemia (third step). A total of 19 thalassemologists/endocrinologists have participated in the first survey and 35 specialists participated in the second step quest...
Life
Congenital adrenal hyperplasia (CAH) due to 17-hydroxylase deficiency (17OHD) is a rare disease a... more Congenital adrenal hyperplasia (CAH) due to 17-hydroxylase deficiency (17OHD) is a rare disease accounting for less than 1% of cases of CAH. In female patients, fertility is severely affected mainly due to constantly increased progesterone affecting endometrium receptivity and implantation. The optimal treatment for infertility in these patients is not clearly established, with only a few recent case reports of successful pregnancies available in the literature. Hereby, we present the case of an infertile female patient with 17OHD who obtained pregnancy through an in vitro fertilization (IVF) freeze-all strategy and particularities of association with adrenal autoimmunity. A 32-year-old infertile female patient was referred for infertility evaluation and treatment. She had normal sex development and menstrual history with oligomenorrhea alternating with normal menstrual cycles. During the evaluation, a reduced ovarian reserve and obstruction of the left fallopian tube were identifie...
Romanian Journal of Pediatrics
Cutis laxa syndromes is a rare, multisystem disorder, which primary involves the skin, caused by ... more Cutis laxa syndromes is a rare, multisystem disorder, which primary involves the skin, caused by various mutations in genes that code structural or functional components of the elastic fiber, resulting in heterogenous manifestations. Diagnosis is primarily based on the physical examination, but supported by molecular tests, and guides treatment and monitoring of the patients. Endocrinological complications are sparsely described, with short stature, osteoporosis and fractures being the most frequent. The precise mechanisms are not elucidated and reports about condition-specific treatments are rare. This review provides an overview of the endocrinological disturbances reported in association with cutis laxa syndromes.
Romanian Journal of Pediatrics
Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and geneti... more Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and genetical variability characterized by typical facial features, growth impairment and multi-organ anomalies. It is caused by mutations in the cohesin complex that is involved in regulation of gene expression. Growth disturbances are a major feature of the syndrome and have various underlying mechanisms. Other associations regarding endocrine function are represented by disturbances in the hypothalamic-pituitary axis, decreased bone density associated with fractures and genital malformations associated with menstrual irregularities and altered fertility.
Problemy e̊ndokrinologii, Sep 22, 2016
Endocrine Abstracts, 2017
Revista de Chimie, 2020
In stimulated cycles the endometrium could be more advanced than the embryos, with a possible neg... more In stimulated cycles the endometrium could be more advanced than the embryos, with a possible negative impact on their implantation capacity. Therefore, there is an ongoing debate regarding the best transfer strategy: freeze-all versus fresh embryos transfer. Our study aimed to analyse if the frozen only embryos-transfer strategy for in vitro fertilisation (IVF) has higher clinical pregnancy rate (CPR) than the traditionally fresh transfer. We performed a retrospective study in a private centre of reproductive medicine. We included only patients who performed fresh embryo transfers (n=245) and patients with all the embryos frozen and then transferred into a non-stimulated cycle (n=117). The reasons for delayed transfer were an increased risk of ovarian hyperstimulation syndrome or the increase of late follicular phase serum progesterone level. The mean age of the study group was 34.33�b4.28 years and mean AMH was 3.68�b3.56 ng/mL. Patients with fresh transfer were significantly olde...
We report the case of a male patient 3.2 years old who presented for endocrinological evaluation ... more We report the case of a male patient 3.2 years old who presented for endocrinological evaluation of short stature. Medical history: congenital hypothyroidism treated with levo-thyroxin, congenital cataract, pseudoaphakia, hiatal hernia, micturition disorder. The patient was born small for gestation age (SGA) with birth weight of 2080 g and birth length 41 cm at 38 weeks of gestation Clinical exam: severe short stature (-4,08 standard deviations, SD), facial dysmorphic features, lax, thin skin with vascular markings,, body weight at the upper normal range (BMI at the 80 percentile) and decreased growth velocity (-1,76 SD in the last year). Paraclinical exams: IGF1=111 ng/ml (normal range 49-283), peek growth hormone (GH) during two stimulation tests of 8,07 ng/ml and 2,98 ng/ml, Adrenal and thyroid tests normal bone age: 3 years pituitary MRI: pituitary hypoplasia Diagnosis: short stature due to SGA and growth hormone deficiency Treatment: somatropinum 0,035 mcg/kg body weight/day Th...
presented at: Chudley, A. E., & Moroz, S. P. (1991). Floating-Harbor syndrome and celiac disease.... more presented at: Chudley, A. E., & Moroz, S. P. (1991). Floating-Harbor syndrome and celiac disease. American Journal of Medical Genetics, 38(4), 562–4. http://doi.org/10.1002/ajmg.1320380413. Hersh, J. H., Groom, K. R., Yen, F. F., & Verdi, G. D. (1998). Changing phenotype in Floating-Harbor syndrome. American Journal of Medical Genetics, 76(1), 58–61. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9508066. Kniffin, C. (2014). FLOATING-HARBOR SYNDROME; FLHS. Retrieved from http://omim.org/entry/136140. Nagasaki, K., Asami, T., Sato, H., Ogawa, Y., Kikuchi, T., Saitoh, A., ... Fukami, M. (2014). Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation. American Journal of Medical Genetics. Part A, 164A(3), 731–5. http://doi.org/10.1002/ajmg.a.36314. Nikkel, S. M., Dauber, A., de Munnik, S., Connolly, M., Hood, R. L., Caluseriu, O., ... Boycott, K. M. (2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 indivi...
Infertility and Assisted Reproduction [Working Title], 2021
Polycystic ovary syndrome (PCOS) is a frequent disorder affecting women of reproductive age chara... more Polycystic ovary syndrome (PCOS) is a frequent disorder affecting women of reproductive age characterized by infertility. Affected endometrial receptivity seems to contribute to decreased fertility of these patients as suggested by several studies. Understanding the mechanism behind this reduced endometrial receptivity could contribute to discovery of new therapeutic targets for infertility of PCOS. The aim of the paper is to review the current data regarding endometrial receptivity in PCOS patients, the potential mechanisms involved with particular focus on recent findings as the impact of gut microbiota on endometrium, the relationship between vitamin D and endometrial receptivity and the different impact of letrozole and clomiphene citrate on endometrial receptivity in infertile PCOS women.
Testes and Ovaries - Functional and Clinical Differences and Similarities, Dec 20, 2017
The increasing age seems to have a negative impact on reproductive functions not only in women bu... more The increasing age seems to have a negative impact on reproductive functions not only in women but also in men. Therefore, our aim was to review the data available in the literature regarding the impact of advancing age on fertility and the mechanisms underlying this association in both genders. The available data suggest that the effects of age on ovarian function cause a decrease in fertility starting 13 years before menopause. Statistics show that 10% of women will have a decreased fertility starting with the age of 30. The impact of age on ovary is due to both decreased number and quality of the oocytes, resulting in a high rate of chromosomal aneuploidy in the embryo and mitochondria dysfunction. Assisted reproductive technologies aiming to identify competent embryo were created but for the moment the results are unsatisfactory. On the other hand, in men, the semen quality and testicular function were found to gradually decrease with age and most of the studies also describe a negative impact on fertility. The mechanisms underlying decreased fertility are mainly genetic and epigenetics changes. However, if the effects of age on male fertility in men can be overcome by assisted reproductive technologies is not clear yet as the results of the studies are inconsistent.
Technium Social Sciences Journal, 2020
Betathalassemic patients demonstrate an increased rate of extracardiac vascular complications, bu... more Betathalassemic patients demonstrate an increased rate of extracardiac vascular complications, but very low prevalence for coronary artery disease. Computed tomography (CT) achieves excellent tissue characterization, with high spatial resolution and has developed as a gold standard for noninvasive angiography and calcium score assessment. Methods. We examined 7 patients with major beta-thalassemia and 7 patients who had an indication for cardiac CT for resting ECG changes, without symptoms of angina pectoris. We investigated the coronary atherosclerosis by assessing the coronary artery calcium (CAC) and arterial stifness. Usual tests and echocardiography measurement were performed. Cardiac computed tomography determined left ventricular mass, left ventricular ejection fraction (LVEF), coronary calcium score and coronary anatomy. An analysis of myocardial density was also performed. Artery stiffness was assessed by the cardio ankle vascular index (CAVI). Results. Arterial stiffne...
Endocrine Abstracts, 2018
Endocrine Abstracts, 2017
Acta Bio Medica : Atenei Parmensis, 2019
In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications... more In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented. The commonest endocrine complications registered in 3.114 TM adults are CH and GHD (4.6 % and 3.0 %, respectively), followed by latent hypocortisolism (1.2%). In 13 patients (0.41%) a cytological papillary or follicular thyroid carcinoma was diagnosed in 11 and 2 patients, respectively, and a lobectomy or thyroide...