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1.
J Endocrinol Invest ; 45(3): 657-673, 2022 Mar.
Article En | MEDLINE | ID: mdl-34677807

PURPOSE: Gender Incongruence (GI) is a marked and persistent incongruence between an individual's experienced and the assigned gender at birth. In the recent years, there has been a considerable evolution and change in attitude as regards to gender nonconforming people. METHODS: According to the Italian Society of Gender, Identity and Health (SIGIS), the Italian Society of Andrology and Sexual Medicine (SIAMS) and the Italian Society of Endocrinology (SIE) rules, a team of experts on the topic has been nominated by a SIGIS-SIAMS-SIE Guideline Board on the basis of their recognized clinical and research expertise in the field, and coordinated by a senior author, has prepared this Position statement. Later on, the present manuscript has been submitted to the Journal of Endocrinological Investigation for the normal process of international peer reviewing after a first internal revision process made by the SIGIS-SIAMS-SIE Guideline Board. RESULTS: In the present document by the SIGIS-SIAMS-SIE group, we propose experts opinions concerning the psychological functioning, gender affirming hormonal treatment, safety concerns, emerging issues in transgender healthcare (sexual health, fertility issues, elderly trans people), and an Italian law overview aimed to improve gender non-conforming people care. CONCLUSION: In this Position statement, we propose experts opinions concerning the psychological functioning of transgender people, the gender-affirming hormonal treatment (full/partial masculinization in assigned female at birth trans people, full/partial feminization and de-masculinization in assigned male at birth trans people), the emerging issues in transgender health care aimed to improve patient care. We have also included an overview of Italian law about gender affirming surgery and registry rectification.


Gender Identity , Hormone Replacement Therapy , Patient Care , Transgender Persons/psychology , Transsexualism , Emotional Adjustment/physiology , Expert Testimony , Gonadal Steroid Hormones/therapeutic use , Hormone Replacement Therapy/methods , Hormone Replacement Therapy/standards , Humans , Italy , Male , Patient Care/methods , Patient Care/standards , Quality Improvement/organization & administration , Reproductive Medicine/methods , Sex Reassignment Surgery/legislation & jurisprudence , Sex Reassignment Surgery/methods , Transsexualism/psychology , Transsexualism/therapy
2.
Schizophr Res ; 207: 80-92, 2019 05.
Article En | MEDLINE | ID: mdl-29730045

Mounting evidence indicates that schizophrenia is a disorder that stems from maladaptive plasticity within neural circuits and produces broad cognitive deficits leading to loss of autonomy. A large number of studies have identified abnormalities spanning many neurotransmitter systems in schizophrenia, and as a result, a variety of drugs have been developed to attempt to treat these abnormalities and enhance cognition. Unfortunately, positive results have been limited so far. This may be in part because the scope of abnormalities in the schizophrenic brain requires a treatment capable of engaging many different neurotransmitter systems. One approach to achieving this kind of treatment has been to use neuroplasticity-based computerized cognitive training programs to stimulate the formation of more adaptive circuits. Although the number of studies implementing this approach has increased exponentially in recent years, effect sizes for cognitive gains have been modest and adherence to treatment remains an important challenge in many studies, as patients are often required to train for 40 h or more. In the present paper, we argue that cognitive training protocols will benefit from the addition of cognitive enhancers to produce more robust and longer lasting targeted neuroplasticity. Indeed, recent data from animal studies have provided support for combining plasticity-enhancing drugs with tailored behavioral training paradigms to restore normal function within dysfunctioning neural circuits. The advantages and challenges of applying this approach to patients with schizophrenia will be discussed.


Cognitive Dysfunction , Cognitive Remediation , Neuronal Plasticity , Neurotransmitter Agents/therapeutic use , Schizophrenia , Cognitive Dysfunction/drug therapy , Cognitive Dysfunction/etiology , Cognitive Dysfunction/metabolism , Cognitive Dysfunction/rehabilitation , Combined Modality Therapy , Humans , Neuronal Plasticity/drug effects , Neuronal Plasticity/physiology , Schizophrenia/complications , Schizophrenia/drug therapy , Schizophrenia/metabolism , Schizophrenia/rehabilitation
3.
G Chir ; 37(4): 174-179, 2016.
Article En | MEDLINE | ID: mdl-27938536

Acute appendicitis is common in an Emergency Surgery Unit. Although the laparoscopic approach is a method accepted for its treatment, no strong data are available for determining how many procedures must an experienced surgeon carry out for obtaining all the advantages of this technique and if this approach can become the gold standard in the activity of a general emergency unit with senior surgeons variously skilled on the basic laparoscopy. 142 patients that underwent appendectomy (90 laparoscopic, 52 conventional) for acute appendicitis were enrolled in this institutional retrospective cohort study. The surgeons were classified with a descriptor-based grading and divided in two groups regarding the skill. The only relevant result of our study was the significant reduction of conversion rate in case of laparoscopic approach. No strong differences were found concerning the duration of the procedure and the hospital stay between the two groups. The rate of complications were very low in both groups. In conclusion, the experienced surgeons can easily perform a laparoscopic approach independently from the specific skill in this approach.


Appendectomy , Appendicitis/surgery , Laparoscopy , Length of Stay , Adult , Appendectomy/methods , Cohort Studies , Emergencies , Emergency Service, Hospital , Female , Humans , Laparoscopy/methods , Male , Middle Aged , Retrospective Studies , Treatment Outcome
4.
G Chir ; 37(6): 243-249, 2016.
Article En | MEDLINE | ID: mdl-28350970

INTRODUCTION: Acute Secondary Peritonitis due to abdominal visceral perforation is characterized by high mortality and morbidity risk. Risk stratification allows prognosis prediction to adopt the best surgical treatment and clinical care support therapy. In Western countries elderly people represent a significant percentage of population Aim. Evaluation of Mannheim Peritonitis Index (MPI) and consideration upon old people. PATIENTS AND METHODS: Retrospective study on 104 patients admitted and operated for "Acute Secondary Peritonitis due to visceral perforation". MPI was scored. In our study we want to demonstrate efficacy of MPI and the possibility to consider older age an independent prognostic factor. RESULTS: Mortality was 25.96%. Greatest sensitivity and specificity for the MPI score as a predictor of mortality was at the score of 20. MPI score of <16 had 0.15 times lower risk of mortality compared to patients with MPI score 17 - 21 and 0.61 lower than patients with MPI >22. Patients with MPI score 17-21 had 0.46 times lower risk of mortality compared to patients with MPI score >21. In the group of patients with MPI score of >20 the mortality rate was 48.5% for patients older than 80 years old and 12.1% for younger patients (p < 0.005); in the group with MPI score of < 20 mortality rate was respectively 8.4% and 1.4% (p < 0.005). DISCUSSION AND CONCLUSIONS: Data confirm the accuracy of the test. MPI score and age over 80 years old resulted independent predictors of mortality at multivariate analysis.


Intestinal Perforation/complications , Peritonitis/etiology , Peritonitis/mortality , Acute Disease , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Prognosis , Retrospective Studies , Severity of Illness Index
5.
Neuropharmacology ; 86: 1-8, 2014 Nov.
Article En | MEDLINE | ID: mdl-24978104

Increasing evidence indicates that acute stress disrupts cognitive functions mediated by glutamate-NMDA receptors, although the mechanisms are not fully understood. Here we investigated whether d-serine and glycine, the endogenous co-agonists of the NMDA receptor, are regulated by acute stress. We studied the biochemical and behavioral effects of acute restraint stress in C57BL/6 mice. Acute restraint stress decreased d-serine levels in the prefrontal cortex and glycine levels in the hippocampus. Behaviorally, acute stress impaired memory consolidation in the object recognition task and prepulse inhibition of the startle response. Importantly, d-serine administration (1 g/kg, i.p.) prevented both stress-induced impairments. Taken together, our results show for the first time an interplay between stress and d-serine and warrant further research on the role of d-serine in stress-related disorders.


Cognition Disorders/physiopathology , Glycine/metabolism , Hippocampus/physiopathology , Prefrontal Cortex/physiopathology , Serine/metabolism , Stress, Psychological/physiopathology , Acute Disease , Animals , Cognition Disorders/drug therapy , Cognition Disorders/etiology , Corticosterone/blood , Disease Models, Animal , Hippocampus/drug effects , Male , Memory/drug effects , Memory/physiology , Mice, Inbred C57BL , Nootropic Agents/administration & dosage , Prefrontal Cortex/drug effects , Prepulse Inhibition/drug effects , Prepulse Inhibition/physiology , Reflex, Startle/drug effects , Reflex, Startle/physiology , Restraint, Physical , Serine/administration & dosage , Stress, Psychological/complications , Stress, Psychological/psychology
6.
Med. infant ; 19(2,n.esp): 104-113, jun. 2012. tab, graf
Article Es | LILACS | ID: lil-774308

El síndrome de Deleción 22q11.2 afecta el aparato cardiovascular, la inmunidad, las funciones endocrinológicas, la cavidad oral, el desarrollo neurocognitivo, con un fenotipo particular debido a una anomalía cromosómica. Objetivo: evaluar las características clínicas y citogenéticas de pacientes atendidos en forma multidisciplinaria, a través de un estudio observacional, descriptivo, transversal e interdisciplinario de una cohorte en seguimiento. Se diagnosticaron 194 pacientes con microdeleción 22q11.2, M 95/ F 99, con un rango etario: 0 a 192m (4días-16 a) y una mediana: 23m, el signo más constante fue la facies característica que se observó en un 100%, el 72,5% presentó malformación cardiovascular, 74,7% mostró defectos en su cavidad oral y el 30,5% hipoacusias. La mayoría de los pacientes evidenciaron compromiso de su neurodesarrollo en forma global, con retraso y trastorno de lenguaje. Se detectaron alteraciones en la inmunidad en el 64,31% con disminución de los linfocitos T, hipocalcemia en 36,8% y defectos urológicos en un 14,7%. Entre los diagnósticos citogenéticos se observó además dos pacientes con traslocaciones cromosómicos de novo que involucraban la microdeleción y un paciente con la deleción en mosaico. Los estudios parentales evidenciaron un 10% de casos heredados. La población estudiada mostró una clínica y frecuencia de anomalías similar a la referida en la bibliografía a excepción de los trastornos auditivos y urológicos que se vieron con menor frecuencia mientras que la prevalencia de alteraciones neurocognitivas fue mayor. La complejidad y variabilidad del síndrome requiere un manejo multidisciplinario.


22q11.2 deletion syndrome may affect the cardiovascular and immune systems, endocrine functions, the oral cavity, and neurocognitive development with a peculiar phenotype due to the chromosomal anomaly. Objective: To evaluate the clinical and cytogenetic features of patients followed-up by a multidisciplinary team in an observational, descriptive, cross-sectional and interdisciplinary cohort study. We diagnosed 194 patients with a 22q11.2 microdeletion, M 95/ F 99, with an age range of 0 to 192 months (4 days-16 years) and a me-dian age of 23 months. Characteristic facies was observed in 100% of the patients, cardiovascular malformation in 72.5%, oral cavity abnormalities in 74.7%, and hearing loss in 30.5%. The majority of the patients showed global impairment of neurological development, such as developmental delay and language disorders. Alterations in the immune system with a low T-lymphocyte count were found in 64.31% of the patients, hypocalcemia in 36.8%, and urinary abnormalities in 14.7%. Among the cytogenetic diagnoses, two patients were found to have de novo chromosome translocations involving the microdeletion and one patient had a mosaic deletion. Stud-ies in parents showed that the disease was inherited in 10% of the cases. Clinical findings and rate of anomalies in the study population were similar to those reported in the litera-ture, except for hearing loss and urinary disorders that were less frequently found, while the prevalence of neurocognitive impairment was higher. The complexity and variability of the syndrome warrants a multidisciplinay approach.


Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Chromosome Aberrations , Chromosome Deletion , /genetics , Argentina , Patient Care Team
8.
Med. infant ; 17(2): 135-142, Junio 2010. ilus, Tab
Article Es | BINACIS, UNISALUD, LILACS | ID: biblio-1247883

El pseudohipoparatiroidismo es una enfermedad hereditaria caracterizada por presentar resistencia a la hormona paratiroidea que se manifiesta por hipocalcemia, hiperfosfatemia y niveles elevados de PTH. Los pacientes pueden presentar características fenotípicas de osteodistrofia hereditaria de Albright y tener asociadas otras resistencias hormonales. En este trabajo se analizan las características clínicas y bioquímicas de 13 niños afectados de la enfermedad, como así también la implicancia del tratamiento. El diagnóstico temprano, la detección oportuna de resistencias hormonales asociadas y el control periódico de los pacientes, son de relevancia para promover el crecimiento y disminuir las secuelas de la hipocalcemia (AU)


Pseudohypoparathyroidism is an hereditary disease characterized by hypocalcemia, hyperphosphatemia due to parathyroid hormone resistance. Patients may have the association of other endocrine resistances and physical characteristics termed Albright's hereditary osteodystrophy. We present here 13 patients with PHP, their clinic and biological signs, and the implication of the treatment. Early diagnosis, the study of other hormone resistances, and periodic control of the patients, are mandatory to promote a correct growth and decrease the consequences of hypocalcemia in these patients (AU)


Humans , Child, Preschool , Child , Adolescent , Pseudohypoparathyroidism/diagnosis , Pseudohypoparathyroidism/genetics , Pseudohypoparathyroidism/therapy , Fibrous Dysplasia, Polyostotic/diagnosis , Hypocalcemia , Parathyroid Hormone , Drug Resistance , Retrospective Studies
9.
Med. infant ; 17(2): 151-155, Junio 2010. ilus, Tab
Article Es | LILACS, UNISALUD, BINACIS | ID: biblio-1248033

El retardo de crecimiento es un importante problema clínico aun no resuelto ni correctamente manejado en niños con insuficiencia renal crónica (IRC). La optimización de todos los parámetros metabólicos y nutricionales no siempre lleva a una mejoría del crecimiento en estos pacientes. Desde hace aproximadamente 20 años se utiliza el tratamiento con rhGH para mejorar la talla en este grupo de niños. La bibliografía internacional muestra mejoría de la velocidad de crecimiento en estos pacientes sin embargo la experiencia publicada en la talla final (TF) alcanzada por los mismos es escasa. Los objetivos de este estudio fueron:1) evaluar la talla final alcanzada por pacientes transplantados renales(TxR) que recibieron tratamiento con rhGH (GrGH) comparándolos con un grupo control (GrC) con similares características clínicas, 2) evaluar los factores predictores de la TF, y 3) la repercusión de dicho tratamiento en la función renal. La TF en el GrGH fue significativamente mayor que la TF del GrC (-1.96 ± 1.13 vs -3.48 ± 1.19 SDS respectivamente, p <0.05). La talla (SDS) al inicio del tratamiento con rhGH fue la única variable significativa para predecir la respuesta al tratamiento (p= 0.001). Se observó una disminución significativa ClCr final en ambos grupos (GrGH: 76 ± 18 vs 66 ± 14 ml/min/m2 sup p<0.05; GrC: 72 ± 19 vs 56 ± 9 ml/min/m2 sup, p<0.05) lo que sugiere una caída similar del filtrado glomerular en ambos grupos independiente del tratamiento. Conclusión: Nuestros hallazgos permiten confirmar que el tratamiento con rhGH es efectivo para mejorar la talla final en pacientes TxR sin afectar la función renal (AU)


Growth retardation is a common and significant clinical problem that is not adequately managed in children with chronic renal disease. Despite optimization of metabolic parameters the growth of this patients not always amelioreted. About 20 years ago rhGH treatment became to be used for this group of children to optimization final height.The international experience show that rhGH treatment improve growth velocity but the results about final heigth are scarse. The aims of our trial were: 1) to evaluate final height in renal transplant patients treated with rhGH (n=23) comparing with a control group not treated with rhGH (n=14) with similar characteristics, 2) to evaluate the effect of rhGH on creatinine clearance,3) to establish predictive variables for final height. Final Heigth was significantly greater in treated group vs control group (-1.9±1.1 vs -3.5±1.2, p<0.05). Initial height was the only significant variable to predict final height (p=0.001). We described a significantly decrease of creatinine clearence in both groups during follow up (GH Group 76±9 vs 66±14 ml/min/m2 sup, p<0.05 and Control Group 72.5±19 vs 56±9 ml/min/m2 sup, p= p<0.05).This suggest a similar decrese of creatinine clearence in both groups. Conclution: Our data confirm that rhGH treatment was effective in improving final height in renal transplant patients and did not decline allograft function (AU)


Humans , Child , Adolescent , Body Height/drug effects , Recombinant Proteins/therapeutic use , Kidney Transplantation , Human Growth Hormone/therapeutic use , Renal Insufficiency, Chronic/complications , Growth Disorders/drug therapy , Case-Control Studies , Chronic Disease , Treatment Outcome
12.
Med. infant ; 17(2): 121-128, Junio 2010. ilus, Tab
Article Es | LILACS | ID: biblio-1247611

Introduccion: La deficiencia de GH (DGH) y la radioterapia espinal (RE) han sido implicadas en la etiología de la talla adulta (TA) baja en los sobrevivientes de meduloblastoma en la niñez. Sin embargo la dinámica del crecimiento luego del diagnóstico tumoral y la efectividad de la Hormona de crecimiento biosintética recombinante humana (rhGH) sobre la TA en comparación con sobrevivientes no tratados con rhGH no han sido reportadas. Objetivo. Evaluación de la talla (T) SDS (SDST) desde el diagnóstico del meduloblastoma y el efecto de la rhGH en pacientes con DGH comparando con pacientes no tratados con rhGH y con pacientes con craniofaringioma y DGH, tratados con rhGH. Analizar si había alguna diferencia en la sobrevida libre de eventos en los pacientes con meduloblastoma al ser tratados con rhGH. Material Clínico y Métodos. Catorce pacientes con meduloblastoma recibieron rhGH hasta la TA, grupo meduloblastoma tratado con GH (GrMGH). Diecinueve pacientes rechazaron la terapia con rhGH, grupo meduloblastoma control (GrMC). Se midieron la talla parada (T) y la talla sentada (Tsent). Ocho pacientes con craneofaringioma recibieron rhGH hasta la TA (GrCra). Se realizó seguimiento de 72 pacientes con meduloblastoma, 20 con tratamiento con rhGH. Resultados. En GrMGH, la media±DS SDST disminuyó de 0.09±0.63 al diagnóstico del tumor a -1.38±0.91 al diagnóstico del DGH, y a -1.90±0.72 al comienzo de rhGH, p<0.01, pero se mantuvo sin cambios durante el tratamiento con rhGH (TA -2.12±0.55). En GrMC la SDST (-0.25±0.88) no fue diferente de GrMGH al diagnóstico del tumor, pero fue -3.40±0.88 a la TA, significativamente menor que en GrMGH, p=0.001. La Tsent SDS a la TA (-4.56±0.82) fue significativamente menor que al comienzo de rhGH (-2.86±0.75), p=0.003, y no fue diferente de GrMC (-4.85±1.77). El GrCra mostró la mayor ganancia de talla (GT = TA-SDSTinicial), p< 0.007, y la menor pérdida de talla (PT= Tblanco - TA), p < 0.0001. Conclusión. El tratamiento con rhGH mejora la TA en sobrevivientes de meduloblastoma en la niñez con DGH, pero no el crecimiento espinal. Las características del crecimiento y la respuesta a rhGH son diferentes en GrMGH y en GrCra, mientras que el primer grupo sólo pudo mantener la talla relativa, el segundo mostró una franca recuperación del crecimiento. Además no hubo diferencias en la sobrevida libre de eventos en los pacientes con meduloblastoma con y sin tratamiento con rhGH (AU)


Background. GH deficiency (GHD) and spine irradiation (SI) have been implicated in the mechanism of reduced adult height (AH) in childhood survivors of medulloblastoma. However, growth dynamics after tumor diagnosis and the effectiveness of (rhGH) Recombinant human Growth Hormone on AH in comparison with rhGH-untreated survivors has not been reported. Aim. Follow up of height (H) SDS (HSDS) after diagnosis of meduloblastoma, and the effect of rhGH in GHD meduloblastoma patients. Comparison with GH-untreated GHD meduloblastoma patients and with GHD craniopharyngioma patients treated with rhGH. To evaluate event free survival in medulloblastoma patiens treated with rhGH. Clinical Material and Methods. Fourteen survivors of medulloblastoma received rhGH treatment until AH, Medulloblastoma GH-treated group (MGHGr). Nineteen patients refused rhGH therapy, GH-untreated Control Medulloblastoma Group, (MCGr). Standing H and sitting H (SitH) were measured. Eight patients with craniopharyngioma received rhGH treatment until AH (CraGr). 72 patients with medulloblastoma were followed up, 20 with rhGH. Results. In MGHGr, mean±SD HSDS decreased from 0.09±0.63 at tumor diagnosis to -1.38±0.91 at diagnosis of GHD, and to -1.90±0.72 at the onset of rhGH, p<0.01, but it remained unchanged during rhGH (AH -2.12±0.55). MCGr HSDS (- 0.25±0.88) was not different from MGHGr at tumor diagnosis, but it was -3.40 ± 0.88 at AH, significantly lower than in MGHGr, p=0.001. SitH SDS at AH (-4.56±0.82) was significantly lower than at the onset of rhGH (-2.86±0.75), p=0.003, and it was not different from MCGr (-4.85 ± 1.77). CraGr showed the highest height SDS gain (HG = FH ­ startHSDS), p<0.007, and the lowest height lost (HL = targetH - AH), p< 0.0001. Conclusions. rhGH treatment improves AH in GH-deficient childhood medulloblastoma survivors but not spinal growth. Growth pattern and response to rhGH differed in MGHGr and CraGR, while the former just could maintain height SDS under treatment, the latter showed a clear catch up growth. There wasn't any difference in the event free survival in medulloblastoma patients with or without rhGH (AU)


Humans , Child, Preschool , Child , Adolescent , Body Height/drug effects , Body Height/radiation effects , Growth Hormone/deficiency , Human Growth Hormone/therapeutic use , Craniopharyngioma/radiotherapy , Medulloblastoma/complications , Medulloblastoma/drug therapy , Medulloblastoma/radiotherapy , Survival , Cohort Studies , Treatment Outcome
13.
Horm Res Paediatr ; 73(4): 281-6, 2010.
Article En | MEDLINE | ID: mdl-20215775

BACKGROUND: GH deficiency (GHD) and spine irradiation (SI) have been implicated in the mechanism of reduced adult height (AH) in childhood survivors of medulloblastoma. However, growth dynamics after tumor diagnosis and the effectiveness of rhGH on AH in comparison with rhGH-untreated survivors have not been reported. AIM: To follow height (H) SDS (HSDS) since tumor diagnosis and the effect of rhGH in GHD patients, comparing with GH-untreated GHD patients. METHODS: 14 patients received rhGH treatment until AH (medulloblastoma GH-treated group, MGHGr). 19 patients refused rhGH therapy (GH-untreated control medulloblastoma group, MCGr). Standing H and sitting H (SitH) were measured. RESULTS: In MGHGr, mean +/- SD HSDS decreased from 0.09 +/- 0.63 at tumor diagnosis to -1.38 +/- 0.91 at diagnosis of GHD, and to -1.90 +/- 0.72 at the onset of rhGH, p < 0.01, but it remained unchanged during rhGH (AH -2.12 +/- 0.55). MCGr HSDS (-0.25 +/- 0.88) was not different from MGHGr at tumor diagnosis, but it was -3.40 +/- 0.88 at AH, significantly lower than in MGHGr, p = 0.001. SitH SDS at AH (-4.56 +/- 0.82) was significantly lower than at the onset of rhGH (-2.86 +/- 0.75), p = 0.003, and it was not different from MCGr (-4.85 +/- 1.77). CONCLUSIONS: rhGH treatment improves AH in GH-deficient childhood medulloblastoma survivors but not spinal growth.


Body Height/drug effects , Human Growth Hormone/administration & dosage , Human Growth Hormone/deficiency , Medulloblastoma/radiotherapy , Adult , Anthropometry , Cohort Studies , Female , Humans , Male , Medulloblastoma/complications , Recombinant Proteins/administration & dosage , Regression Analysis
14.
Horm Res ; 72(6): 321-30, 2009.
Article En | MEDLINE | ID: mdl-19844120

INTRODUCTION: cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal human health and disease. Placental aromatization of androgens protects the female fetus against the virilizing action of fetal androgens. After birth, the dual effect of aromatase deficiency, excessive androgens, and insufficient estrogens is responsible for a variable clinical picture. Nineteen cases of aromatase gene (CYP19) deficiency have been reported. PHENOTYPE: Phenotype is dependent on sex and age. In newborns, aromatase deficiency should be considered in the etiology of 46,XX DSD, after ruling out congenital adrenal hyperplasia. In prepubertal aromatase deficient girls, high levels of ovarian androgens and gonadotropins facilitate the formation of ovarian cysts. Bone mineralization can be affected and bone aging is delayed. In pubertal girls, there is poor sexual development and abnormal virilization. The phenotype may be variable according to enzyme activity level. Insulin sensitivity may be abnormal in both men and women. Finally, aromatase might also play a role in the regulation of testicular cell mass in the newborn testis. CONCLUSION: Adequate interpretation of clinical data should lead to the analysis of the CYP19 gene for diagnostic confirmation and implementation of appropriate management.


Aromatase/deficiency , Aromatase/genetics , Adolescent , Androgens/metabolism , Bone Development , Child , Female , Genitalia/abnormalities , Genitalia/growth & development , Genitalia/metabolism , Humans , Hypothalamo-Hypophyseal System/metabolism , Infant , Infant, Newborn , Insulin Resistance , Lipids/blood , Male , Models, Biological , Mutation , Phenotype , Pregnancy , Puberty
15.
J Pediatr Endocrinol Metab ; 22(12): 1127-35, 2009 Dec.
Article En | MEDLINE | ID: mdl-20333872

Serum IGF-I and IGFBP-3 assays are used to monitor rhGH treatment. Some discrepancies in results obtained by means of different assays have been reported. The aim of this study was to establish normal ranges for circulating IGF-I and IGFBP-3 in children and adolescents of Hispanic and Italian origin. Circulating levels of IGF-I and IGFBP-3 were measured in 169 Hispanic and Italian prepubertal children and 66 adolescents of both sexes, using a chemiluminescent assay. Serum levels of IGF-I and IGFBP-3 increased from early childhood into adolescence. After pubertal peaks of IGF-I and IGFBP-3, slight decreases were observed with increasing age. Furthermore, serum IGF-I levels were significantly higher in girls than in boys, suggesting a sexual dimorphism in serum IGF-I values in late prepuberty and early puberty. Differences in IGF-I and IGFBP-3 absolute values between our study and previous studies suggest the need to establish reference ranges for each ethnic group.


Chemistry, Clinical/standards , Insulin-Like Growth Factor Binding Proteins/blood , Insulin-Like Growth Factor I/metabolism , Luminescent Measurements/standards , Sex Characteristics , Adolescent , Age Factors , Argentina , Chemistry, Clinical/methods , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Insulin-Like Growth Factor Binding Protein 3 , Italy , Male , Reference Values , Sex Factors
16.
G Chir ; 29(8-9): 351-3, 2008.
Article It | MEDLINE | ID: mdl-18834567

Ketorolac is one of the most common nonsteroidal anti-inflammatory drugs used to control postoperative pain. However, peri- and postoperative administration of ketorolac is associated with an increased risk of gastrointestinal bleeding as described in the literature. Notwithstanding this event is not frequent, it can expose the patient to serious complications that should be quickly recognised and effectively treated. We present a report about a female patient with cholelithiasis who underwent a laparoscopic cholecystectomy. After the operation, the patient had a haemorrhage that we attributed to surgery in a first time and then to administration of ketorolac.


Anti-Inflammatory Agents/adverse effects , Cholecystectomy, Laparoscopic , Hematoma/complications , Hemoperitoneum/etiology , Ketorolac/adverse effects , Liver Diseases/complications , Adult , Female , Humans , Rupture, Spontaneous
18.
Chir Ital ; 53(5): 633-40, 2001.
Article En | MEDLINE | ID: mdl-11723893

The increase in the geriatric population in recent decades was not followed by a corresponding increase in attention on the part of surgeons to elderly patients until, in the '80s, many clinical studies showed that postoperative morbidity and mortality were related to the associated diseases rather than to the patients' age. To evaluate whether greater attention to the elderly is capable of increasing the number of operations that can be performed when necessary, we retrospectively surveyed the activity of a division of general surgery over two different periods of 5 years: the first one from 01/01/1985 to 31/12/1989 and the second from 01/01/1995 to 31/12/1999, when a team was specifically set up to take care of elderly patients. We registered a significant difference in the number of elderly patients operated on for tumours (134 vs. 208), an increase in colorectal neoplasms (24 vs. 70) and significant differences between radical and palliative surgery (P = 0.03). The extension of radical interventions for cancer to the elderly resulted in a moderate increase in postoperative complications. The surgery-related mortality was around 3.5% in both periods. Thus, a team of surgeons specifically dedicated to aged patients can improve the number of surgical operations performed in these subjects when required without any rise in postoperative mortality.


Geriatrics/statistics & numerical data , Neoplasms/surgery , Surgery Department, Hospital/statistics & numerical data , Surgical Procedures, Operative/statistics & numerical data , Aged , Aged, 80 and over , Female , Geriatric Assessment , Humans , Male , Retrospective Studies , Surgical Procedures, Operative/adverse effects , Utilization Review
19.
Minerva Chir ; 53(4): 251-9, 1998 Apr.
Article It | MEDLINE | ID: mdl-9701979

BACKGROUND AND AIMS: To data there are no preoperative systems of evaluating surgical risk specifically in geriatric patients. Given that it was thought useful to formulate a score-based prognostic system for these patients based on surgical risk, the authors collected a wide range of preoperative data with the aim of identifying the easily determined variables. METHODS: While data from other hospital centres are in the process of being collected, the authors report the data for 122 over 65-year-old patients who underwent elective surgery up until 30-1-1996 out of a total of 329 hospitalized patients. In addition to a wide series of objective, laboratory and instrumental data, the study also took into account the pathology requiring to surgery, any associated morbid conditions, psychic and social conditions, the type of surgery and local and/or general postoperative complications. RESULTS: Hernia of the abdominal wall were found to be the most frequent cause of surgery (41 cases), followed by 27 neoplasias of various organs and biliary lithiasis (20 cases). Cardiovascular diseases were the most common associated pathologies (85 patients). A total of 13 major and 80 medium operations were performed, including 16 cholecystectomies. Among the general complications, an altered acid-base balance was found in 7 patients. Two deaths were recorded within 30 days of surgery. When the data collection is complete, the results will be analysed statistically in order to obtain a numerical calculation of the coefficients of risk correlated to the individual variables. CONCLUSIONS: This will enable the criteria of operability to be broadened, thereby allowing surgery to be performed in those patients who are currently excluded merely on the basis of the personal judgement of the surgeon and anesthetist.


Elective Surgical Procedures/statistics & numerical data , Models, Theoretical , Prognosis , Aged , Aged, 80 and over , Anesthesia/adverse effects , Contraindications , Diagnosis-Related Groups , Elective Surgical Procedures/adverse effects , Elective Surgical Procedures/mortality , Emergencies , Female , Humans , Male , Postoperative Complications/epidemiology , Retrospective Studies , Risk , Risk Assessment , Survival Analysis , Treatment Outcome
20.
Ital J Anat Embryol ; 101(2): 69-80, 1996.
Article En | MEDLINE | ID: mdl-8997902

Seventy-eight patients affected by inguinal hernia, 33 by direct and 45 by indirect external oblique types, were studied. The morphologic and structural aspects of the inguinal canal including its length, the diameter of the deep inguinal ring and the qualitative features of the fascia transversalis and aponeuroses of the external and internal oblique muscles and of the transversus muscle were investigated. In all 78 patients with inguinal hernia, the length of the canal was 4.7 cm. In the 33 patients with direct inguinal hernia the width of the deep inguinal ring varied from 1.5 to 2.5. The aponeurosis of the external oblique muscle was dense in 19 cases (57.58%), rather laddered in 10 (30.30%) and very laddered in 4 (12.12%). The fascia transversalis was discontinued in 28 cases (84.85%) and velamentous in 5 cases (15.15%). In the 45 patients with indirect inguinal hernia the width of the deep inguinal ring varied from 1.5 to 7 cm. The aponeurosis of the external oblique muscle was dense in 14 cases (31.11%), rather laddered in 23 cases (51.11%), very laddered in 8 (17.78%). The fascia transversalis was dense in 15 (33.33%), elastic in 17 (37.78%) and velamentous in 13 cases (28.89%). Based on the results of this study, a series of therapeutic considerations are set forth. The most important of these include early surgical intervention, which is absolutely necessary, and the use of prostheses in the inguinal canal.


Hernia, Inguinal/pathology , Hernia, Inguinal/surgery , Inguinal Canal/pathology , Inguinal Canal/surgery , Testis/surgery , Adolescent , Adult , Aged , Aged, 80 and over , Cryptorchidism/pathology , Cryptorchidism/surgery , Humans , Male , Middle Aged , Testis/abnormalities
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