RESUMO
Spino-bulbar muscular atrophy (SBMA) is an X-linked recessive adult progressive disorder affecting motor neurons. It is caused by a poly-glutamine tract expansion in the androgen receptor (AR) which generates protein aggregates that cannot be processed by proteasomes. A secondary mild androgen resistance is developed by AR dysfunction and patients present endocrine abnormalities including gynecomastia and poor function of testosterone in tissues; however, normally they are fertile. In this report we describe a Mexican family with three affected brothers with primary infertility caused by a progressive impairment of spermatogenesis leading to azoospermia before 40 years of age. They presented common features associated to patients affected by SMBA, such as gynecomastia, high level of CPK, muscle cramps, fasciculations, muscle wastage, and impaired swallowing. Two intracytoplasmic sperm injection (ICSI) cycles were performed in one of the patients resulting in fertilization failure. Molecular analysis of AR gene exon 1 revealed 54 CAG repeats in DNA extracted from leukocytes in affected patients and 22 repeats in the fertile non-affected brother. Severe impaired spermatogenesis of rapid progression has not been associated before to SBMA. This is the first report of assisted reproduction techniques indicated by male infertility in patients with this rare disorder. Further studies are required to confirm the unusual result of intracytoplasmic sperm injection cycles. We discuss the implications and possible pathogenesis of these unique features of SBMA in this family.
Assuntos
Azoospermia/etiologia , Atrofia Muscular Espinal/complicações , Espermatogênese , Adulto , Azoospermia/genética , DNA , Feminino , Humanos , Masculino , Atrofia Muscular Espinal/genética , Receptores Androgênicos/genética , Sequências Repetitivas de Ácido Nucleico , Irmãos , Injeções de Esperma IntracitoplásmicasRESUMO
BACKGROUND: Ovarian stimulation is a key component in assisted reproduction techniques. Supraphysiologic levels secondary to hormonal stimulation with high doses of exogenous hormones affect endometrial receptivity, the function of the corpus luteum, ovulation and embryo quality. The use of stimulation protocols called "minimal stimulation" may have a beneficial effect in achieving pregnancy. OBJECTIVES: To evaluate the clinical efficacy (pregnancy rate) of rLH treatment on Day 5 (minimum group "A") vs. Day 8 (minimum group "B") of the ovarian stimulation cycle. MATERIAL AND METHODS: Cohort, retrospective, pilot study. Two groups of 22 patients each who received minimal stimulation "A" or "B" (control group) in the period from April to August 2010. RESULTS: No statistically significant difference in the following variables: age, FSH, estradiol and basal follicles. The median of mature follicles at the shooting day, the minimum group "A" was 3 vs. 2 for low B, the number of oocytes at metaphase II: Minimum group "A" 37/65 (57%) vs. 24/38 (63 %) at minimal group "B". Patients with grade 1+ quality embryos were 7 in minimal group "A" vs. 6 in the minimal group "B". In the minimal group "A", the pregnancy rate per started cycle was 27.3% and 37.5% for transfer, in the minimal group "B", the pregnancy rate per started cycle was 22.7% and per patient transfer which underwent 25%. CONCLUSIONS: Receiving the minimal stimulation protocol "A" has a 15% higher risk of becoming pregnant, compared with minimal group "B" based on pregnancy rate per transfer, for the sample size, the p value was 0.32.
Assuntos
Hormônio Luteinizante/administração & dosagem , Indução da Ovulação/métodos , Adulto , Estudos de Coortes , Esquema de Medicação , Feminino , Humanos , Projetos Piloto , Gravidez/estatística & dados numéricos , Proteínas Recombinantes/administração & dosagem , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Recently Mexican Federation of Obstetrics and Gynecology Colleges (Federación Mexicana de Colegios de Obstetricia y Ginecologia, FEMECOG) published the Mexican guideline forthe management of male infertility, which suggests performing genetic laboratory tests as part of diagnosis and management of infertile patients and states that these should receive genetic counseling. This paper reviews the genetic approach proposed by Mexican guideline. A systematic review of medical literature was performed in Pubmed and Web of Knowledge from 1980 to 2012 in order to find reports of genetic variants associated to male infertility in Mexican patients. Also it is discussed the current knowledge of these variants, their clinical implications and finally the guidelines and recommendations for their molecular diagnosis. Most genetic variants in Mexican infertile patients are chromosome abnormalities. In relation to other variants there is only a report of Y chromosome microdeletions, repeated CAG in androgen receptor and more common mutations in CFTR, and other article reporting mutations in CFTR in patients with congenital absence of vas deferens. Little is known about the genetics of Mexican infertile patients apart from chromosome abnormalities. However, the contribution of genetics as etiology of male infertility is taking more relevance and currently the consensual management of infertile male should include the screening of genetic background. This review pretends to be a quick guide for clinicians who want to know about reports of genetic variants related to male infertility in Mexican population and how to approach their diagnosis.
Assuntos
Infertilidade Masculina/genética , Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos Y , Fibrose Cística/genética , Variação Genética , Humanos , Masculino , México , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento SexualRESUMO
Sixty female Wistar rats were employed and divided into three experimental groups of 20 rats each. Groups were evaluated at 15, 30, and the last at 45 days after surgery. Each group was divided into four sets of five rats each. All rats were subjected to surgery; an incision of 2 x 2 cm was done on the back of each animal, removing tissue until reaching muscular fascia, where the material was applied. Nitro-furazone was employed as positive control. Test materials were AlPO added with 0.55% wt of Zn; 0.30% wt of Ca(OH)2, and AlPO added with 0.55% wt of Zn and 0.66% wt of Ca(OH)2. Finally, as negative control no material was used. The object of this work was in the first place obtension of test materials and to evaluate the healing skin process in rats using AlPO enriched with Zn and Ca(OH)2; as indicated previously. Obtained materials were characterized employing XRD. Histologic studies tested showed that best healing process of dermal tissue corresponded to rats treated with AlPO added with 0.55% wt of Zn and 0.30% wt of Ca(OH)2. Use of AlPO ceramics to repair skin has not been reported previously.
Assuntos
Cerâmica/farmacologia , Fenômenos Fisiológicos da Pele , Pele/imunologia , Cicatrização/efeitos dos fármacos , Animais , Feminino , México , Ratos , Ratos Wistar , Pele/patologiaRESUMO
Se utilizaron 60 ratas Wistar, que fueron evaluadas a los 15, 30 y 45 días después de la cirugía. Se quitó un cuadro de piel del lomo del animal, removiendo la epidermis y la dermis hasta alcanzar la fascia muscular donde se aplicó el material de experimentación. Se usó Nitrofurazona como control positivo y ningún material como control negativo. Los materiales a probar fueron fosfatos de aluminio a los que se agregó: 0.55% en peso de Zn y 0.30% en peso de Ca(0H)2 siendo éste el material A, y 0.55% en peso de Zn y 0.66% en peso de Ca(0H)2 el material B. Se trataron cinco ratas con cada material. Los objetivos del trabajo fueron la obtención de las cerámicas a probar y la evaluación de su efecto sobre el proceso de cicatrización de piel de ratas. Los materiales obtenidos fueron caracterizados con DRX. Estudios histopatológicos probaron que los mejores procesos de cicatrización de la piel se observaron en las ratas tratadas con el material A. El uso de las cerámicas AlPO para cicatrización de piel no ha sido reportado antes.
Sixty female Wistar rats were employed and divided into three experimental groups of 20 rats each. Groups were evaluated at 15, 30, and the last at 45 days after surgery. Each group was divided into four sets of five rats each. All rats were subjected to surgery; an incision of 2 x 2cm was done on the back of each animal, removing tissue until reaching muscular fascia, where the material was applied. Nitro-furazone was employed as positive control. Test materials were AlPO added with 0.55% wt of Zn; 0.30% wt of Ca(OH)2 and AlPO added with 0.55% wt of Zn and 0.66% wt of Ca(0H)2. Finally, as negative control no material was used. The object of this work was in the first place obtension of test materials and to evaluate the healing skin process in rats using AlPO enriched with Zn and Ca(0H)2; as indicated previously. Obtained materials were characterized employing XRD. Histologic studies tested showed that best healing process of dermal tissue corresponded to rats treated with AlPO added with 0.55% wt of Zn and 0.30% wt of Ca(OH)2. Use of AlPO ceramics to repair skin has not been reported previously.