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1.
Rev Med Liege ; 77(12): 728-732, 2022 Dec.
Artigo em Francês | MEDLINE | ID: mdl-36484751

RESUMO

Complete androgen insensitivity syndrome is the most frequent cause of disorder of sexual development in 46 XY patients. It is caused by mutations of the AR gene coding for the androgen receptor. Transmission is X-linked and mutations are most of the time inherited. It leads to a complete lack of response to androgen resulting in the presence of female external genitalia in 46 XY patients, normal but undescended testes and lack of female internal genitalia due to the secretion of anti-Müllerian hormone by male gonads. Traditionally, gonadectomy was proposed before puberty to decrease the risk of gonadal malignancy. However, more recent studies underlined the benefits of postponing gonadectomy until after pubertal development. Benefits of deferred gonadectomy are spontaneous pubertal development through peripheral aromatization of testosterone into oestrogens and the chance for the patient to have an active role in the decision-making process. After gonadectomy, hormone replacement therapy is required in order to prevent complications due to hypogonadism such as osteoporosis, cardiovascular diseases and a reduction of life expectancy.


L'insensibilité aux androgènes est l'étiologie principale des troubles du développement sexuel chez des patientes 46 XY. Elle est due à des mutations du gène AR qui code pour le récepteur des androgènes. Le mode de transmission est lié à l'X et les mutations sont le plus souvent héritées. Il en résulte une absence d'action des androgènes sur leurs récepteurs entraînant la présence d'organes génitaux externes féminins chez des patientes 46 XY, de testicules normalement développés en position abdominale ou inguinale et en l'absence d'organes génitaux internes féminins due à la sécrétion d'hormone anti-müllérienne par les gonades masculines. La gonadectomie était auparavant effectuée en période pré-pubertaire en raison du risque suspecté de développement de néoplasie maligne. Des données récentes suggèrent la possibilité de postposer cette intervention après le développement pubertaire. Le risque de transformation maligne pré-pubertaire des gonades est faible, et différer la gonadectomie permet un développement pubertaire naturel grâce à l'aromatisation périphérique de la testostérone en œstradiol. Ce délai permet d'impliquer activement la patiente dans la prise en charge de sa pathologie. Après la gonadectomie, un traitement hormonal substitutif par œstrogènes est indiqué pour prévenir les complications dues à l'hypogonadisme telles que l'ostéoporose, les maladies cardio-vasculaires et la réduction de l'espérance de vie.


Assuntos
Síndrome de Resistência a Andrógenos , Neoplasias , Humanos , Masculino , Feminino , Síndrome de Resistência a Andrógenos/genética , Síndrome de Resistência a Andrógenos/cirurgia , Síndrome de Resistência a Andrógenos/complicações , Hormônio Antimülleriano/genética , Mutação
2.
Rev Med Liege ; 75(5-6): 440-444, 2020 May.
Artigo em Francês | MEDLINE | ID: mdl-32496694

RESUMO

Benign prostatic hyperplasia (BPH) is a very frequent condition, most of the times related to age, and with initial manifestations and long term development that may vary widely. Treatment is necessary only if the patient is symptomatic or if he has complications related to the BPH. During the last 10 years, the various BPH treatment means have evolved significantly. Regarding medical treatment, new drugs have been introduced and new combinations of drugs have shown their efficacy in BPH treatment. The surgical treatment of BPH has seen the development of minimally invasive surgical techniques, with broader indications and better results compared to classical surgical techniques. Among these techniques, the better studied and developed is the endoscopic Holmium Laser Enucleation of the Prostate (HoLEP). The continuous development of medical lasers and minimally invasive surgical techniques for the treatment of BPH will, in our opinion, lead the way towards a rich and innovative future decade with regard to the surgical treatment of BPH.


L'hyperplasie bénigne de la prostate (HBP) est une pathologie extrêmement fréquente, favorisée par le vieillissement et dont les manifestations cliniques peuvent être très variées. Un traitement n'est nécessaire que lorsque le patient se plaint de symptômes secondaires à l'HBP ou souffre de ses complications. Ces 10 dernières années, les traitements de l'adénome prostatique ont évolué de manière importante. De nouvelles molécules ainsi que de nouvelles associations (de molécules connues ayant déjà prouvé leur efficacité) se sont ajoutées au traitement médical. Le traitement chirurgical, quant à lui, a été significativement marqué par le développement des techniques mini-invasives, aux indications plus larges et aux meilleurs résultats. Parmi ces techniques, la plus développée et étudiée, est la technique d'énucléation endoscopique de la prostate à l'aide du laser Holmium (HoLEP). Le développement des lasers à usage médical ainsi que la recherche de nouvelles techniques chirurgicales mini-invasives ouvrent la voie à une prochaine décennie riche en innovations thérapeutiques pour la prise en charge chirurgicale des adénomes prostatiques.


Assuntos
Terapia a Laser , Lasers de Estado Sólido , Hiperplasia Prostática , Endoscopia , Humanos , Masculino , Hiperplasia Prostática/terapia , Resultado do Tratamento
4.
Rev Med Chir Soc Med Nat Iasi ; 117(2): 344-50, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24340515

RESUMO

Ghrelin is an important neuroendocrine peptide having as main purpose the stimulation of growth hormone (GH) secretion. It is also an important regulator of the long-term energy balance and short-term nutritional intake. Ghrelin has several other biological actions, among which the capacity to regulate gastrointestinal motility, to modulate the reproductive and stress axes as well as the glucose metabolism, and other well-defined actions within the cardiovascular and renal physiology. Due to its numerous effects, ghrelin is considered on one hand a potential target in the treatment of obesity and on the other, a therapeutic option in other dysfunctions and illnesses.


Assuntos
Caquexia/metabolismo , Grelina/metabolismo , Hormônio do Crescimento Humano/metabolismo , Inflamação/metabolismo , Obesidade/metabolismo , Índice de Massa Corporal , Caquexia/fisiopatologia , Sistema Cardiovascular/metabolismo , Motilidade Gastrointestinal/efeitos dos fármacos , Glucose/metabolismo , Homeostase , Humanos , Inflamação/fisiopatologia , Sistemas Neurossecretores/metabolismo , Obesidade/fisiopatologia , Reprodução/efeitos dos fármacos , Estresse Fisiológico/efeitos dos fármacos , Sistema Urogenital/metabolismo
5.
Rev Med Chir Soc Med Nat Iasi ; 117(1): 143-7, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24505906

RESUMO

UNLABELLED: According to the European Association of Urology guidelines, local periprostatic anesthesia during ultrasound guided biopsy is "state of the art" without specifying the exact benefits and character of choice vs. necessity of this maneuver. AIM: To determine the benefits of using periprostatic anesthesia as standard method of analgesia in patients undergoing transrectal ultrasound guided prostate biopsy. MATERIAL AND METHODS: We conducted a prospective randomized study involving 100 biopsy patients. The patients were randomized in two groups, 50 patients benefiting from local periprostatic anesthesia with 10 ml of lidocaine and the remaining 50 without local anesthesia. In our clinic we use the 12-core prostate biopsy procedure using 18G/20 cm caliber needles. To assess perceived pain intensity during the procedure, immediately after biopsy we applied to patients a VAS questionnaire (Visual Analogue Scale) as a simple method of quantitative evaluation of a symptom the perception of which varies greatly between individuals. RESULTS: A reduction in perceived pain by 45.06% (30.47 vs. 16.74) was recorded in the group receiving local periprostatic anesthesia. It is also worth mentioning that the patients receiving anesthesia said that anesthesia punctures were the most painful (the remaining punctures being much less painful), while patients without anesthesia reported pain intensity levels more or less equal in all 12 performed punctures. CONCLUSIONS: Local anesthesia is a necessity in ultrasound guided prostate biopsies as it significantly reduces pain intensity in patients undergoing this diagnostic procedure.


Assuntos
Anestesia Local/métodos , Anestésicos Locais/administração & dosagem , Biópsia por Agulha , Lidocaína/administração & dosagem , Próstata/diagnóstico por imagem , Próstata/patologia , Ultrassonografia de Intervenção , Biópsia por Agulha/métodos , Humanos , Masculino , Satisfação do Paciente , Estudos Prospectivos , Reto , Inquéritos e Questionários , Ultrassonografia de Intervenção/métodos
6.
Rev Med Chir Soc Med Nat Iasi ; 116(4): 1101-5, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23700896

RESUMO

UNLABELLED: Lyme disease also called ,,the illness with a thousand faces" ("The Great Imitator") because it may mimic very well the symptoms and signs of other diseases, is an unusual medical encounter for the urologist. Every patient with Lyme disease has his own clinical feature, while the superposition over an unknown but easy to discover urological disease may lead to a misdiagnosis. CASE PRESENTATION: Male patient A. P. was an emergency transfer in our clinic with multiple system organ failure. The mirage of first imaging finding, bilateral obstructive ureteral calculi was obviated after the serological confirmation of Lyme disease suspected after the thorough history obtained from his family. The intensive care treatment, broad-spectrum antibiotics and hemodialysis sessions, together with external urinary drainage, lead to the improvement of the patient status, and subsequent proper urological treatment to urolithiasis cure. CONCLUSIONS: This case identifies several challenges faced by practitioners, challenges which involve the diagnosis and the treatment of Lyme disease associated with urolithiasis. Although Lyme disease remains a controversial clinical entity, its diagnosis is based on a history of possible exposure to ticks, the appearance of specific clinical symptoms, whether or not combined with serological tests.


Assuntos
Borrelia burgdorferi , Doença de Lyme/diagnóstico , Doença de Lyme/terapia , Urolitíase/diagnóstico , Urolitíase/terapia , Animais , Antibacterianos/uso terapêutico , Borrelia burgdorferi/isolamento & purificação , Seguimentos , Humanos , Doença de Lyme/complicações , Doença de Lyme/microbiologia , Doença de Lyme/cirurgia , Masculino , Pessoa de Meia-Idade , Nefrostomia Percutânea/métodos , Doenças Raras , Diálise Renal , Carrapatos , Resultado do Tratamento , Urolitíase/complicações , Urolitíase/cirurgia
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