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1.
Hum Reprod ; 35(10): 2391-2398, 2020 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-32810206

RESUMEN

STUDY QUESTION: Is there an added diagnosis value of buccal cell FISH analysis compared with blood lymphocyte chromosomal investigations in patients with Turner syndrome (TS)? SUMMARY ANSWER: Buccal cell FISH analysis, a non-invasive technique, modified the chromosomal results obtained with the blood karyotype in 17 patients (12%) of our cohort. WHAT IS KNOWN ALREADY: Few studies have evaluated buccal cell FISH analysis and compared them with blood karyotype in patients with TS. STUDY DESIGN, SIZE, DURATION: A prospective, monocentric cohort study was conducted in a rare diseases centre (CMERC) between July 2017 and August 2019. PARTICIPANTS/MATERIALS, SETTING, METHODS: In total, 142 adult patients with TS, and at least 5% 45,X cells in a previous blood karyotype, were recruited. All the patients' files were included in the CEMARA database. This national database has been declared to the French data protection agency (CNIL approval number 1187326). In compliance with French law, consent regarding non-opposition to collect and use the data was obtained from each patient. A FISH analysis on a buccal smear was performed. MAIN RESULTS AND THE ROLE OF CHANCE: The percentage of 45,X cells was identical between the two tissues in only 32.4% of cases. The discrepancy was higher than 41% for 12% of the cohort. The percentage of 45,X cells was higher in blood in 53 (37.3%) patients, and higher in buccal cells in 43 (30.3%) of cases. In 17 (12%) cases, the blood karyotype had to be reconsidered in regard to the buccal cell analysis. LIMITATIONS, REASONS FOR CAUTION: It would have been interesting to evaluate karyotypes in cells from other tissues such as cells from skin biopsy or from the urinary tract and even from blood vessels or gonads in case of surgery and to compare them with each patient's phenotype. However, most of the time, these tissues are not available. WIDER IMPLICATIONS OF THE FINDINGS: Although blood lymphocyte karyotype remains the gold standard for the diagnosis of TS, buccal cell FISH analysis is an efficient tool to evaluate the global chromosomal constitution in these patients, thus allowing them to have better care and follow-up. For instance, identifying a Y chromosome can prevent the occurrence of a gonadoblastoma, as gonadectomy should be discussed. On the other hand, finding normal XX cells in a patient with a previous diagnosis of homogenous 45,X TS, may be psychologically helpful and relevant for gynaecological care. STUDY FUNDING/COMPETING INTEREST(S): No specific funding was sought for the study. The authors declare no competing interests. TRIAL REGISTRATION NUMBER: N/A.


Asunto(s)
Neoplasias Ováricas , Síndrome de Turner , Adulto , Estudios de Cohortes , Femenino , Humanos , Mosaicismo , Mucosa Bucal , Estudios Prospectivos , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/terapia
2.
Gynecol Endocrinol ; 35(11): 941-944, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31155980

RESUMEN

Adrenal infarction is usually associated with bilateral adrenal hemorrhage in the setting of antiphospholipid syndrome or hemodynamic variation. Few cases of unilateral nonhemorrhagic adrenal infarction (NHAI) have been described in the literature. Here, we report a case occurring during pregnancy. A 30-year-old woman presented at 32 weeks of gestation with sudden-onset right abdominal pain and contractions. Unilateral adrenal infarction was diagnosed following computed tomography (CT). It showed an enlarged right adrenal, without hyperenhancement. Because of persisting contractions, despite medical care, she delivered a healthy, albeit premature, girl. Abdominal pain decreased right after delivery. Three month later, CT imaging showed atrophy of the right adrenal and a normal left adrenal. The patient's adrenal hormonal function was normal. Accurate diagnosis of NHAI remains difficult as its clinical presentation is not specific. It can only be performed with adrenal imaging. Magnetic resonance imaging shows diffuse enlargement of one or both adrenals and an edema on T2-weighted images. Anticoagulation therapy may be discussed. Patients should be evaluated between 3 and 6 months after the event to assess adrenal size and function. In summary, NHAI during pregnancy is probably underdiagnosed and obstetricians should be aware of this or diagnostic difficulty.


Asunto(s)
Dolor Abdominal/etiología , Glándulas Suprarrenales/irrigación sanguínea , Infarto/diagnóstico por imagen , Complicaciones del Embarazo/diagnóstico por imagen , Glándulas Suprarrenales/diagnóstico por imagen , Adulto , Femenino , Humanos , Infarto/complicaciones , Embarazo , Complicaciones del Embarazo/etiología , Tomografía Computarizada por Rayos X
3.
Ann Pharm Fr ; 77(1): 62-73, 2019 Jan.
Artículo en Francés | MEDLINE | ID: mdl-30243470

RESUMEN

The peripheral insertion central catheter (PICC-Line) is indicated for long term intravenous medication administration. Some adverse events (AE) might occur, especially for patients after hospital discharge. Therefore, patient empowerment about the side effects and precaution for use is essential to prevent potential patient harm. A multidisciplinary working group met and designed support program for outpatient living with PICC-line. Pharmacy consultations (PC) were proposed to patient before and after PICC-line insertion. A strip cartoon and card game were created to facilitate patient education. The aim of the study was to assess the comprehension of patient then secondarily to follow up AE awareness. During 10 months, 30 patients of mean age 65.9±14 years were included. Thirty-sixPICC-Line were installed and followed on 1659days of catheterization. 4, 9 and 13patients received respectively no, at least one and two PCs before discharge from the hospital. Although the differences were not statistically significant, comprehension tends to improve when patients benefit from both PCs especially when it concerns complications. Twenty-fiveambulatory AEs were recorded including 9infections or suspicion of infection, 2 thrombosis and 2 displacements of PICC-line. Among the patients who had no PC, four experienced delayed care. In comparison, it occurred in only one patient in the group who received at least one PC after PICC-line insertion. Further studies are warranted to confirm this trend.


Asunto(s)
Cateterismo Venoso Central/métodos , Cateterismo Periférico/métodos , Anciano , Anciano de 80 o más Años , Atención Ambulatoria , Recursos Audiovisuales , Infecciones Relacionadas con Catéteres/prevención & control , Cateterismo Venoso Central/efectos adversos , Cateterismo Periférico/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pacientes Ambulatorios , Educación del Paciente como Asunto , Proyectos Piloto
4.
Hum Reprod ; 33(8): 1408-1416, 2018 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-29912343

RESUMEN

STUDY QUESTION: What are the consequences of radioactive iodine (RAI) therapy for testicular function? SUMMARY ANSWER: A single activity of 3.7 GBq RAI for differentiated thyroid carcinoma (DTC) treatment in young men transiently altered Sertoli cell function and induced sperm chromosomal abnormalities. WHAT IS KNOWN ALREADY: Few studies, mainly retrospective, have reported the potential impacts of RAI on endocrine and exocrine testicular function. STUDY DESIGN, SIZE, DURATION: A longitudinal prospective multi-center study on testicular function performed in DTC patients before a single 131I ablative activity of 3.7 GBq (V0) and at 3 months (V3) and 13 months (V13) after treatment. PARTICIPANTS/MATERIALS, SETTING, METHODS: Forty male patients, aged 18-55 years, with DTC participated. Hormonal analysis included FSH, LH, testosterone and inhibin B serum levels at V0, V3 and V13. Furthermore, sperm parameters, DNA fragmentation and sperm chromosomal abnormalities were evaluated at each time points. The differences in all parameters, between V0-V3, V0-V13 and V3-V13, were analyzed, using a Wilcoxon test. MAIN RESULTS AND THE ROLE OF CHANCE: Prior to RAI administration, all patients had normal gonadal function. At V3, a statistically significant increase in FSH levels and a decrease in inhibin B levels were observed and sperm concentration, as well as the percentage of morphologically normal spermatozoa, were significantly decreased (P < 0.0001). These modifications were transient as both sperm concentration and normal morphology rate returned to baseline values at V13. However, at this later time point, FSH and inhibin B levels were still impacted by RAI administration but remained in the normal range. Although no DNA fragmentation was observed at V3 nor V13, our study revealed a statistically significant increase in the number of sperm chromosomal abnormalities both at V3 (P < 0.001) and V13 (P = 0.01). LIMITATIONS, REASONS FOR CAUTION: Among the 40 patients included in the study, only 24 had all the parameters available at all visits. WIDER IMPLICATIONS OF THE FINDINGS: Prospective studies with longer term follow up would be helpful to determine whether the chromosome abnormalities persist. These studies would be required before sperm banking should be suggested for all patients. However, sperm preservation for DTC patients who require cumulative radioiodine activities higher than 3.7 GBq should be proposed. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by the Programme Hospitalier de Recherche Clinique, AP-HP (No. P040419). The authors report no conflict of interest in this work. TRIAL REGISTRATION NUMBER: NCT01150318.


Asunto(s)
Carcinoma/radioterapia , Infertilidad Masculina/etiología , Radioisótopos de Yodo/efectos adversos , Dosis de Radiación , Traumatismos por Radiación/etiología , Testículo/efectos de la radiación , Neoplasias de la Tiroides/radioterapia , Adolescente , Adulto , Biomarcadores/sangre , Carcinoma/patología , Diferenciación Celular , Aberraciones Cromosómicas , Fragmentación del ADN , Francia , Hormonas/sangre , Humanos , Infertilidad Masculina/sangre , Infertilidad Masculina/genética , Infertilidad Masculina/patología , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Traumatismos por Radiación/sangre , Traumatismos por Radiación/genética , Traumatismos por Radiación/patología , Radioterapia Adyuvante/efectos adversos , Medición de Riesgo , Factores de Riesgo , Espermatozoides/patología , Espermatozoides/efectos de la radiación , Testículo/metabolismo , Testículo/patología , Neoplasias de la Tiroides/patología , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
5.
Klin Monbl Augenheilkd ; 234(4): 561-563, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28147402

RESUMEN

Without appropriate treatment, Group A streptococcal infections can lead to post-streptococcal syndrome, including post-streptococcal uveitis. This should be kept in mind in young patients with acute bilateral non-granulomatous anterior uveitis, in order to avoid ocular and systemic complications. We report two cases of bilateral post-streptococcal anterior uveitis, in young men, of respectively 20 and 16 years old, that presented to Jules Gonin Eye Hospital.


Asunto(s)
Antibacterianos/administración & dosificación , Infecciones Estreptocócicas/diagnóstico , Infecciones Estreptocócicas/tratamiento farmacológico , Uveítis Supurativa/diagnóstico , Uveítis Supurativa/tratamiento farmacológico , Administración Oftálmica , Adolescente , Diagnóstico Diferencial , Humanos , Masculino , Enfermedades Raras/diagnóstico , Enfermedades Raras/tratamiento farmacológico , Enfermedades Raras/microbiología , Infecciones Estreptocócicas/microbiología , Resultado del Tratamiento , Uveítis Supurativa/microbiología
6.
Rev Med Suisse ; 10(426): 846-50, 852-3, 2014 Apr 16.
Artículo en Francés | MEDLINE | ID: mdl-24834642

RESUMEN

Adverse food reactions can be classified into two main categories depending on wether an immune mechanism is involved or not. The first category includes immune mediated reactions like IgE mediated food allergy, eosinophilic oesophagitis, food protein-induced enterocolitis syndrome and celiac disease. The second category implies non-immune mediated adverse food reactions, also called food intolerances. Intoxications, pharmacologic reactions, metabolic reactions, physiologic, psychologic or reactions with an unknown mechanism belong to this category. We present a classification of adverse food reactions based on the pathophysiologic mechanism that can be useful for both diagnostic approach and management.


Asunto(s)
Hipersensibilidad a los Alimentos/diagnóstico , Alimentos/efectos adversos , Enfermedad Celíaca/inmunología , Esofagitis Eosinofílica/inmunología , Hipersensibilidad a los Alimentos/inmunología , Humanos , Inmunoglobulina E/inmunología
7.
Arthritis Rheum ; 64(9): 2995-3005, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22549387

RESUMEN

OBJECTIVE: Pulmonary venoocclusive disease (PVOD) is an uncommon form of pulmonary hypertension (PH) characterized by obstruction of small pulmonary veins. Pulmonary venous involvement has been reported in pathologic assessment of patients with systemic sclerosis (SSc) presenting with precapillary PH. High-resolution computed tomography (HRCT) of the chest is a noninvasive diagnostic tool used to screen for PVOD. No HRCT data are available on SSc patients with precapillary PH. We undertook this study to evaluate the frequency and effect on prognosis of HRCT signs of PVOD in SSc patients with precapillary PH. METHODS: We reviewed chest HRCT data from 26 SSc patients with precapillary PH and 28 SSc patients without pulmonary arterial hypertension (PAH) or interstitial lung disease (ILD). RESULTS: The radiographic triad of HRCT signs of PVOD (lymph node enlargement [57.7% versus 3.6%], centrilobular ground-glass opacities [46.2% versus 10.7%], and septal lines [88.5% versus 7.1%]) was significantly more frequent in SSc patients with precapillary PH than in SSc patients without PAH or ILD (all P < 0.005). Indeed, 61.5% of SSc patients with precapillary PH had ≥ 2 of these signs. Cardiomegaly (P < 0.0001), pulmonary artery enlargement (P < 0.0001), and pericardial effusion (P < 0.0005) were also significantly more frequent in SSc patients with precapillary PH. Pulmonary venous involvement was histologically confirmed in 2 patients with radiographic signs of PVOD. The presence of ≥ 2 radiographic signs of PVOD was associated with the occurrence of pulmonary edema after initiation of PAH-specific therapy (in 8 of 16 patients) and with more rapid progression from diagnosis of PH to death. CONCLUSION: HRCT signs of PVOD are frequently observed in SSc patients with precapillary PH, correlated with histologic assessment, and were associated with a high risk of pulmonary edema.


Asunto(s)
Hipertensión Pulmonar/diagnóstico por imagen , Enfermedad Veno-Oclusiva Pulmonar/diagnóstico por imagen , Esclerodermia Sistémica/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Hipertensión Pulmonar/complicaciones , Masculino , Persona de Mediana Edad , Pronóstico , Enfermedad Veno-Oclusiva Pulmonar/complicaciones , Radiografía , Esclerodermia Sistémica/complicaciones
8.
Rev Med Suisse ; 8(338): 890-3, 2012 Apr 25.
Artículo en Francés | MEDLINE | ID: mdl-22611625

RESUMEN

Orthopaedic surgery has low healthcare-associated infection incidences compared to other surgical disciplines. However, whenever they occur, these infections are associated with substantial morbidity, prolonged hospital stay, high costs, and difficulties of eradication with life-long recurrence risks. Among the many measures to prevent orthopaedic surgical site infections, only few are based on strong evidence, and there is insufficient evidence to ascertain which element is superior to any other. This highlights the need for multimodal approaches involving active post-discharge surveillance, as well as measures at every step of the care process; from the individual patient to department-wide interventions targeting all infections, and including antibiotic stewardship.


Asunto(s)
Infección Hospitalaria/prevención & control , Procedimientos Ortopédicos/efectos adversos , Procedimientos Ortopédicos/métodos , Medicina Preventiva/métodos , Infección de la Herida Quirúrgica/prevención & control , Profilaxis Antibiótica/métodos , Investigación Biomédica/métodos , Investigación Biomédica/tendencias , Práctica Clínica Basada en la Evidencia/métodos , Práctica Clínica Basada en la Evidencia/tendencias , Humanos , Monitoreo Fisiológico/métodos , Procedimientos Ortopédicos/rehabilitación , Medicina Preventiva/tendencias , Infección de la Herida Quirúrgica/etiología
9.
Gynecol Obstet Fertil Senol ; 50(10): 675-681, 2022 10.
Artículo en Francés | MEDLINE | ID: mdl-35609786

RESUMEN

Postmenopausal hyperandrogenism is an androgen excess originating from either the adrenals and/or the ovaries. Clinically, symptoms can be moderate (increase in terminal hair growth, acnea) or severe with signs of virilization (alopecia, clitoridomegaly). In either setting, physicians need to exclude relatively rare but potentially life-threatening underlying tumorous causes, such as adrenal androgen-secreting tumors. The objectives of this review are to evaluate which hormonal measurements (T, delta 4 androstenedione, 17 OH progesterone, SDHEA, FSH, LH) and/or imaging (pelvic ultrasound, MRI or adrenal CT-scan) could be useful identifying the origin of the androgen excess. Our review illustrates that the rate of progression of hirsutism and/or alopecia, and serum testosterone levels are in favor of tumors. Pelvic MRI and adrenal CT-scan are useful tools for identifying the different causes of androgen excess.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Hiperandrogenismo , Neoplasias de las Glándulas Suprarrenales/complicaciones , Alopecia/complicaciones , Andrógenos , Androstenodiona , Femenino , Hormona Folículo Estimulante , Humanos , Hiperandrogenismo/etiología , Menopausia , Ovario , Progesterona , Testosterona
10.
Orphanet J Rare Dis ; 17(Suppl 1): 170, 2022 04 19.
Artículo en Inglés | MEDLINE | ID: mdl-35440056

RESUMEN

Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins), is to provide health professionals with a guide to optimal management and care of patients with FPLD2, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), is available on the French Health Authority website (in French). Dunnigan syndrome is characterized by a partial atrophy of the subcutaneous adipose tissue and by an insulin resistance syndrome, associated with a risk of metabolic, cardiovascular and muscular complications. Its prevalence, assessed at 1/100.000 in Europe, is probably considerably underestimated. Thorough clinical examination is key to diagnosis. Biochemical testing frequently shows hyperinsulinemia, abnormal glucose tolerance and hypertriglyceridemia. Elevated hepatic transaminases (hepatic steatosis) and creatine phosphokinase, and hyperandrogenism in women, are common. Molecular analysis of the LMNA gene confirms diagnosis and allows for family investigations. Regular screening and multidisciplinary monitoring of the associated complications are necessary. Diabetes frequently develops from puberty onwards. Hypertriglyceridemia may lead to acute pancreatitis. Early atherosclerosis and cardiomyopathy should be monitored. In women, polycystic ovary syndrome is common. Overall, the management of patients with Dunnigan syndrome requires the collaboration of several health care providers. The attending physician, in conjunction with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are described to provide such a support.


Asunto(s)
Hipertrigliceridemia , Resistencia a la Insulina , Lipodistrofia Parcial Familiar , Lipodistrofia , Pancreatitis , Enfermedad Aguda , Femenino , Humanos , Hipertrigliceridemia/complicaciones , Lipodistrofia Parcial Familiar/diagnóstico , Lipodistrofia Parcial Familiar/genética , Lipodistrofia Parcial Familiar/terapia
11.
Hum Reprod ; 26(6): 1338-47, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21421664

RESUMEN

BACKGROUND Nomegestrol acetate/17ß-estradiol (NOMAC/E(2)) is a new monophasic oral contraceptive combining NOMAC (2.5 mg), a highly selective progesterone-derived progestogen, with E(2) (1.5 mg), which is structurally identical to endogenous estrogen. The objective of this study was to compare the effects on ovarian activity of two different NOMAC/E(2) regimens. METHODS This was a double-blind, randomized study. Healthy, premenopausal women (aged 18-38 years, previous menstrual cycle length 28 ± 7 days) were randomized by computer-generated code to once-daily NOMAC/E(2) for three consecutive 28-day cycles: either 24 days with a 4-day placebo interval (n = 40) or 21 days with a 7-day placebo interval (n = 37) per cycle. Follicular growth (primary outcome measure), plasma hormone profiles and bleeding patterns were assessed. RESULTS There was no evidence of ovulation during treatment with either NOMAC/E(2) regimen. The largest follicle diameter was significantly smaller in the 24-day group than in the 21-day group [mean (SD) mm in cycle 2: 9.0 (3.0) versus 11.3 (5.3) (P = 0.02); in cycle 3: 9.2 (3.0) versus 11.5 (6.0) (P = 0.04)]. Mean FSH plasma levels were significantly lower in the 24-day versus the 21-day group on Day 24 of cycles 1 and 2. Withdrawal bleeding duration was significantly shorter in the 24-day than in the 21-day group [mean (SD) days after cycle 1: 3.5 (1.3) versus 5.0 (2.6) (P = 0.002); after cycle 2: 3.9 (1.6) versus 4.8 (1.7) (P = 0.03)]. CONCLUSIONS The 24-day NOMAC/E(2) regimen was associated with greater inhibition of follicular growth and shorter duration of withdrawal bleeding than the 21-day regimen, suggesting the shorter pill-free interval results in a greater margin of contraceptive efficacy and tolerability, and fewer withdrawal symptoms.


Asunto(s)
Anticonceptivos Orales Combinados/administración & dosificación , Estradiol/administración & dosificación , Megestrol/administración & dosificación , Norpregnadienos/administración & dosificación , Método Doble Ciego , Humanos
12.
Hum Reprod ; 26(3): 724-8, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21227944

RESUMEN

DAX1/NR0B1 mutations are responsible for X-linked congenital adrenal hypoplasia (AHC) associated with hypogonadotropic hypogonadism (HH). Few data are available concerning testicular function and fertility in men with DAX1 mutations. Azoospermia as well as failure of gonadotrophin treatment have been reported. We induced spermatogenesis in a patient who has a DAX1 mutation (c.1210C>T), leading to a stop codon in position 404 (p.Gln404X). His endocrine testing revealed a low testosterone level at 1.2 nmol/l (N: 12-40) with low FSH and LH levels at 2.1 IU/l (N: 1-5 IU/l) and 0.1 IU/l (N: 1-4 IU/l), respectively. Baseline semen analysis revealed azoospermia. Menotropin (Menopur(®):150 IU, three times weekly) and human chorionic gonadotrophin (1500 IU, twice weekly) were used. After 20 months of treatment, as azoospermia persisted, bilateral multiple site testicular biopsies were performed. Histology revealed severe hypospermatogenesis. Rare spermatozoa were extracted from the right posterior fragment and ICSI was performed. Four embryos were obtained and, after a frozen-thawed single-embryo transfer, the patient's wife became pregnant and gave birth to a healthy boy. We report the first case of paternity after TESE-ICSI in a patient with DAX1 mutation, giving potential hope to these patients to father non-affected children. Furthermore, this case illustrates the fact that patients with X-linked AHC have a primary testicular defect in addition to HH.


Asunto(s)
Receptor Nuclear Huérfano DAX-1/genética , Hipogonadismo/genética , Infertilidad Masculina/genética , Infertilidad Masculina/terapia , Técnicas Reproductivas Asistidas , Hiperplasia Suprarrenal Congénita/genética , Hiperplasia Suprarrenal Congénita/patología , Hiperplasia Suprarrenal Congénita/fisiopatología , Hiperplasia Suprarrenal Congénita/terapia , Insuficiencia Suprarrenal , Adulto , Receptor Nuclear Huérfano DAX-1/química , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Enfermedades Genéticas Ligadas al Cromosoma X/fisiopatología , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Humanos , Insuficiencia Corticosuprarrenal Familiar , Infertilidad Masculina/tratamiento farmacológico , Masculino , Túbulos Seminíferos/citología , Túbulos Seminíferos/patología , Espermatogénesis/efectos de los fármacos , Resultado del Tratamiento
13.
Reprod Biomed Online ; 22(3): 277-83, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21269879

RESUMEN

Hypogonadotrophic hypogonadism (HH) is characterized by deficient gonadotrophin secretion, resulting from pituitary or hypothalamic defects. In order to induce spermatogenesis, HH patients are treated with commercially available gonadotrophins. As far as is known, quality and genetic integrity of induced sperm cells have never been investigated, although they represent an important issue, since the ultimate goal of this treatment is to have competent spermatozoa in order to achieve paternity. In order to evaluate the nuclear integrity of induced sperm cells, sperm samples from treated HH patients were compared with sperm samples from normospermic control donors. Sperm cells were analysed by fluorescence in-situ hybridization, using probes specific for chromosomes 13, 21, 18, X and Y, and by TdT (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end labelling assay. Results showed that the rate of aneuploid and diploid sperm cells in patients was not statistically different from controls and that the rate of sperm cells with fragmented DNA was within the normal values. Spermatozoa obtained by gonadotrophin treatment in HH patients are likely to have a balanced chromosomal content and a normal DNA integrity but this conclusion needs to be confirmed by further studies dealing with a greater number of patients.


Asunto(s)
Cromosomas Humanos/ultraestructura , Gonadotropinas/farmacología , Hipogonadismo/tratamiento farmacológico , Análisis de Semen/estadística & datos numéricos , Espermatogénesis/efectos de los fármacos , Espermatogénesis/fisiología , Gonadotropinas/uso terapéutico , Humanos , Hibridación Fluorescente in Situ , Etiquetado Corte-Fin in Situ , Masculino , Razón de Masculinidad
14.
Acta Chir Belg ; 110(1): 57-9, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20306911

RESUMEN

BACKGROUND AND AIMS: Right colonic diverticulitis is not a frequent disease and its management is still controversial. In this study we describe our experience. MATERIAL AND METHODS: We retrospectively reviewed all patients operated on because of a right colonic diverticulitis in our surgical unit. All patients were treated laparoscopically. Demographics, diagnostic and surgical results were recorded. RESULTS: Between January 1994 and January 2007, 11 patients (7 males and 4 females) mean age 53 +/- 9 years (range 39-68), ASA 1: 6 patients, ASA 2: 4 patients, ASA 3: one patient, and BMI 27.8 (range 25-31), had right colonic diverticulitis. Four patients underwent emergency operations: one for peritonitis and three with an erroneous diagnosis of acute appendicitis; seven were operated on electively. There were no deaths or complications. The mean postoperative hospital stay was 5.6 days (range, 3-9). After a mean follow-up of 6.3 years (range 1-13) all patients of this series are symptom-free. INTERPRETATION AND CONCLUSION: Right colon diverticulitis diagnosis remains difficult. A pre-operative imaging screening is necessary to successfully face this challenging disease. Laparoscopy is a safe and effective method to treat these patients. Colectomy should be considered a good therapeutic option for right colonic diverticulitis, although a conservative approach could be proposed in selected cases.


Asunto(s)
Colectomía/métodos , Diverticulitis del Colon/epidemiología , Adulto , Anciano , Colonoscopía , Diverticulitis del Colon/diagnóstico , Diverticulitis del Colon/cirugía , Femenino , Estudios de Seguimiento , Francia/epidemiología , Humanos , Laparotomía , Masculino , Persona de Mediana Edad , Morbilidad/tendencias , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
15.
Minerva Chir ; 64(1): 9-16, 2009 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19202531

RESUMEN

AIM: Urgent appendectomy in patients with acute appendicitis (AA) complicated by abscess or phlegmon is associated with a high rate of complications. Recent developments in CT scanning have allowed patients with complicated appendicitis to be better identified. We choose to treat these patients with initial antibiotic therapy followed by elective appendectomy. We reported the results of this strategy and compared it with urgent appendectomy. METHODS: A retrospective analysis of patients diagnosed with complicated acute appendicitis (CAA) between 1998 and 2007 treated either by urgent appendectomy or with antibiotic therapy and elective appendectomy was performed. We assessed the efficacy of antibiotic therapy for CAA. We compared the postoperative course between urgent and elective appendectomy. RESULTS: We treated 56 patients with CAA: 40 by urgent appendectomy and 16 by antibiotics. All 16 patients improved with no need for urgent surgery, with 15 undergoing elective appendectomy. Postoperative complications were significantly lower in the elective group. Conversion rate and mean operative time were also lower but not significantly different. However, the duration of total hospital stay, antibiotic therapy and sick leave were higher. CONCLUSIONS: Initial antibiotic therapy followed by elective appendectomy may be proposed in patients diagnosed with CAA.


Asunto(s)
Absceso Abdominal/etiología , Absceso Abdominal/cirugía , Apendicectomía/métodos , Apendicitis/complicaciones , Apendicitis/cirugía , Laparoscopía , Absceso Abdominal/diagnóstico , Absceso Abdominal/tratamiento farmacológico , Enfermedad Aguda , Adulto , Anciano , Antibacterianos/uso terapéutico , Apendicitis/diagnóstico , Apendicitis/tratamiento farmacológico , Procedimientos Quirúrgicos Electivos/métodos , Femenino , Humanos , Tiempo de Internación , Masculino , Registros Médicos , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Tiempo , Resultado del Tratamiento
16.
Hum Reprod ; 23(8): 1917-23, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18508780

RESUMEN

BACKGROUND: Inactivating LH receptor (LHR) mutations have been described so far in men as well as in women. Phenotypes in men have been variable with in nearly all cases impairment of sex differentiation or azoospermia. We report a milder reproductive phenotype both in a male patient and his sister. METHODS AND RESULTS: We describe a family that carries a homozygous mutation G-->A at position -1 at the intron 10-exon 11 boundary of the LHR gene. The male patient presented with delayed puberty, micropenis and oligospermia. Two of his sisters were homozygous for the same mutation and were infertile. Surprisingly, one of them was found to have had regular ovarian cycles for years and showed normal LH values (6.5 and 10.6 mIU/ml for LH and FSH, respectively). In vitro analysis showed that this altered splicing resulted in an LHR from which eight amino acids are deleted from the extracellular domain (Delta Tyr(317)-Ser(324)). In vitro expression has shown that the receptor was expressed and capable of LH-induced signaling, albeit with reduced potency (P < 0.001). CONCLUSIONS: LHR mutations may represent an underestimated cause of infertility in women, in addition to being responsible for male hypogonadism with reduced spermatogenesis.


Asunto(s)
Empalme Alternativo , Hipogonadismo/genética , Infertilidad Femenina/genética , Oligospermia/genética , Receptores de HL/genética , Adulto , Secuencia de Bases , Células Cultivadas , Femenino , Humanos , Masculino , Ciclo Menstrual/genética , Persona de Mediana Edad , Datos de Secuencia Molecular , Linaje , Pene/anomalías , Pubertad Tardía/genética , Transfección
17.
Ultrasound Obstet Gynecol ; 32(5): 694-9, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18792416

RESUMEN

OBJECTIVES: To describe the grayscale and color Doppler ultrasound findings in women with ovarian hyperthecosis. METHODS: In a retrospective study, we reviewed the findings on ultrasound examination of the ovaries in 10 patients with proven hyperthecosis. Clinical features had been recorded and testosterone levels measured in all cases. The ovaries had been examined using grayscale ultrasound in all patients and color Doppler in six patients. Bilateral stromal hyperthecosis had been pathologically confirmed in all patients. RESULTS: The clinical features were polymorphic, with symptoms of virilization in four patients. Type 2 diabetes was present in four patients. Testosterone levels were greater than 2 ng/mL in four patients. On grayscale ultrasound examination, the ovaries were normal in two patients but showed bilateral abnormalities in eight; both ovaries were increased in size in seven patients and had a round shape in two patients, the ovary being both increased in size and round in shape in one of these patients. A very peculiar nodular stromal pattern was observed in two out of 10 patients, while a homogeneous stromal pattern was observed in eight patients. On color Doppler, performed in six patients, no areas of hypervascularization were observed. CONCLUSION: Findings on grayscale ultrasonography and on color Doppler examination, in association with clinical and biological findings, are useful in the diagnosis of ovarian hyperthecosis and in ruling out the presence of an androgen-secreting tumor.


Asunto(s)
Síndrome del Ovario Poliquístico/diagnóstico por imagen , Útero/diagnóstico por imagen , Adolescente , Adulto , Anciano , Índice de Masa Corporal , Femenino , Humanos , Menopausia/fisiología , Persona de Mediana Edad , Síndrome del Ovario Poliquístico/patología , Estudios Retrospectivos , Ultrasonografía Doppler en Color , Útero/patología , Adulto Joven
18.
Gynecol Obstet Fertil ; 36(9): 857-61, 2008 Sep.
Artículo en Francés | MEDLINE | ID: mdl-18706847

RESUMEN

Premature ovarian failure (POF) is defined as the cessation of ovarian function under the age of 40 years. It is characterized by primary or secondary amenorrhea for at least four months, sex steroid deficiency and elevated serum gonadotropin concentrations. The diagnosis is confirmed by the detection of menopausal FSH levels on at least two occasions a few weeks apart in a woman before the age of 40. It occurs in 1/10,000 in women below the age of 20, 1/1,000 below 30 and 1% in women before the age of 40. The classic etiologies are Turner syndrome, pelvic surgery, radiotherapy or chemotherapy. Although new genetic etiologies have been found in the past 10 years, the cause of POF is unknown in more than 75% of cases. Hormone replacement therapy should be administered in order to avoid vascular diseases and osteoporosis. For infertility, the most successful treatment remains assisted conception with donated oocytes.


Asunto(s)
Terapia de Reemplazo de Estrógeno/métodos , Insuficiencia Ovárica Primaria/etiología , Insuficiencia Ovárica Primaria/terapia , Adolescente , Adulto , Amenorrea/epidemiología , Amenorrea/etiología , Femenino , Fertilización In Vitro , Hormona Folículo Estimulante/sangre , Humanos , Infertilidad Femenina/etiología , Infertilidad Femenina/terapia , Menopausia Prematura , Insuficiencia Ovárica Primaria/epidemiología , Síndrome de Turner/complicaciones
19.
Gynecol Obstet Fertil ; 36(5): 551-6, 2008 May.
Artículo en Francés | MEDLINE | ID: mdl-18462981

RESUMEN

The purpose of hormonal testing in infertile men is to screen treatable causes of infertility. Recommendations of the American Urological Association and the Society of Reproductive Medicine are to measure serum follicle-stimulating hormone (FSH) and testosterone if there is an abnormally low sperm concentration, impaired sexual function or clinical findings suggestive of endocrinopathy. If testosterone level is low, measurement of total and free or bioavaible testosterone should be performed as well as determination of luteinizing hormone (LH) and prolactin level. This hormonal evaluation can distinguish hypogonadotropic hypogonadism from testicular insufficiency.


Asunto(s)
Hormona Folículo Estimulante/sangre , Hormonas Esteroides Gonadales/sangre , Infertilidad Masculina/sangre , Testículo/fisiología , Testosterona/sangre , Humanos , Infertilidad Masculina/etiología , Hormona Luteinizante/sangre , Masculino , Prolactina/sangre , Recuento de Espermatozoides
20.
Ann Endocrinol (Paris) ; 69 Suppl 1: S53-6, 2008 Sep.
Artículo en Francés | MEDLINE | ID: mdl-18954860

RESUMEN

Endometriosis concerns 6 to 10 % of the female population, and is responsible for severe pelvic pain and infertility. This estrogen dependant disease, is characterized by the presence of endometrial tissue outside of the uterus cavity. Although his physiopathology remains poorly understood, recent data have focused on angiogenesis, which could represent a key factor for the growing of lesions of endometriosis. New antiangiogenesis treatments represent a therapeutic hope, and have been tested in vitro or in vivo in mice. Those drugs have proven their efficacy on endometriotic lesions. Secondly, several hypothesis are discussed to explain infertility in endometriosis. In particular, a direct impact of peritoneal fluid from women with endometriosis on sperm DNA could be involved.


Asunto(s)
Endometriosis/fisiopatología , Inhibidores de la Angiogénesis/uso terapéutico , Animales , Modelos Animales de Enfermedad , Endometriosis/tratamiento farmacológico , Endometriosis/epidemiología , Endometrio/irrigación sanguínea , Femenino , Humanos , Incidencia , Infertilidad Femenina/etiología , Ratones , Neovascularización Patológica/prevención & control , Dolor Pélvico/etiología
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