RESUMEN
Approximately 15% of couples are infertile, with half of these cases being due to a male factor. Testis-specific cytoplasmic poly(A) polymerase beta (PAPOLB) is known to be critical for spermatogenesis. In mice, the loss of function of the Papolb gene results in the arrest of spermiogenesis and in male infertility. To analyse the role of the PAPOLB gene in human male infertility, this study investigated the relevance of this gene to human Sertoli-cell-only syndrome (SCOS) with azoospermia. Mutation analysis of the PAPOLB coding region was performed on 139 Japanese patients by PCR and direct sequence analysis. No critical mutations directly causing SCOS were detected, but three single-nucleotide polymorphisms (SNPs; SNP1 (c1101C > T), SNP2 (c1347T > C) and SNP3 (c1903C > A)) were found in the coding region. However, there were no significant associations in the allelic and genotypic distributions of these three SNPs between the SCOS and control groups (p>.05). This study suggests a lack of association of PAPOLB with azoospermia due to SCOS in humans.
Asunto(s)
Azoospermia/etiología , Síndrome de Sólo Células de Sertoli/complicaciones , Animales , Pueblo Asiatico , Azoospermia/genética , Estudios de Casos y Controles , ADN Polimerasa beta , Humanos , Japón , Masculino , Ratones , Polimorfismo de Nucleótido Simple , Estudios Retrospectivos , Síndrome de Sólo Células de Sertoli/genéticaRESUMEN
PURPOSE: The authors report on a rare case of maternal virilization during pregnancy caused by autosomal recessive P450 oxidore- ductase (POR) deficiency. MATERIALS AND METHODS: A 24-year-old primigravida developed a deepening voice and hirsutism in the second trimester. Prenatal ultrasonography failed to detect any fetal abnormality and fetal growth was normal. POR deficiency was suspected, but the mother declined fetal genetic testing. A female neonate was delivered by cesarean section at 41 weeks' gestation. RESULTS: The neonate had skeletal abnormalities. Mutational analysis of the POR gene demonstrated homozygosity for c.1370 G>A and p.R457H in the patient and heterozygosity in her parents. POR deficiency was confirmed in the neonate. CONCLUSION: POR deficiency should be suspected in cases of maternal virilization. Maternal urinary estriol, fetal magnetic resonance imaging, and parental genetic testing should be performed. Parental consent for fetal genetic testing should be sought to ensure prompt diagnosis and early treatment.
Asunto(s)
Fenotipo del Síndrome de Antley-Bixler/fisiopatología , Complicaciones del Embarazo/fisiopatología , Virilismo/fisiopatología , Fenotipo del Síndrome de Antley-Bixler/complicaciones , Fenotipo del Síndrome de Antley-Bixler/genética , Clítoris/anomalías , Femenino , Pruebas Genéticas , Humanos , Recién Nacido , Mutación , Linaje , Embarazo , Complicaciones del Embarazo/genética , Segundo Trimestre del Embarazo , Ultrasonografía Prenatal , Virilismo/etiología , Virilismo/genética , Adulto JovenRESUMEN
About 15% of couples wishing to have children are infertile; approximately half these cases involve a male factor. Polo-like kinase 4 (PLK-4) is a member of the polo protein family and a key regulator of centriole duplication. Male mice with a point mutation in the Plk4 gene show azoospermia associated with germ cell loss. Mutational analysis of 81 patients with azoospermia and Sertoli cell-only syndrome (SCOS) identified one man with a heterozygous 13-bp deletion in the Ser/Thr kinase domain of PLK4. Division of centrioles occurred in wild-type PLK4-transfected cells, but was hampered in PLK-4-mutant transfectants, which also showed abnormal nuclei. Thus, this PLK4 mutation might be a cause of human SCOS and nonobstructive azoospermia.
Asunto(s)
Azoospermia/genética , Predisposición Genética a la Enfermedad , Proteínas Serina-Treonina Quinasas/genética , Eliminación de Secuencia/genética , Síndrome de Sólo Células de Sertoli/genética , Línea Celular , Centriolos/fisiología , Análisis Mutacional de ADN , Células HeLa , Humanos , Masculino , Estructura Terciaria de Proteína/genéticaRESUMEN
A loss of function of the murine Sin3A gene resulted in male infertility with Sertoli cell-only syndrome (SCOS) phenotype in mice. Here, we investigated the relevance of this gene to human male infertility with azoospermia caused by SCOS. Mutation analysis of SIN3A in the coding region was performed on 80 Japanese patients. However, no variants could be detected. This study suggests a lack of association of SIN3A gene sequence variants with azoospermia caused by SCOS in humans.
Asunto(s)
Azoospermia/genética , Proteínas Represoras/genética , Síndrome de Sólo Células de Sertoli/genética , Adulto , Pueblo Asiatico/genética , Humanos , Japón , Masculino , Mutación , Complejo Correpresor Histona Desacetilasa y Sin3Asunto(s)
Hidrocolpos/diagnóstico por imagen , Himen/anomalías , Trastornos de la Menstruación/diagnóstico por imagen , Adulto , Anomalías Congénitas , Femenino , Humanos , Hidrocolpos/congénito , Hidrocolpos/cirugía , Himen/diagnóstico por imagen , Himen/cirugía , Recién Nacido , Trastornos de la Menstruación/congénito , Trastornos de la Menstruación/cirugía , Embarazo , Ultrasonografía PrenatalRESUMEN
Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, ten novel genes involved in human spermatogenesis, including human LRWD1, have been identified by expression microarray analysis of human testictissue. The human LRWD1 protein mediates the origin recognition complex in chromatin, which is critical for the initiation of pre-replication complex assembly in G1 and chromatin organization in post-G1 cells. The Lrwd1 gene expression is specific to the testis in mice. Therefore, we hypothesized that mutation or polymorphisms of LRWD1 participate in male infertility, especially azoospermia. To investigate whether LRWD1 gene defects are associated with azoospermia caused by SCOS and meiotic arrest (MA), mutational analysis was performed in 100 and 30 Japanese patients by direct sequencing of the coding regions, respectively. Statistical analysis was performed for patients with SCOS and MA and in 100 healthy control men. No mutations were found in LRWD1; however, three coding single-nucleotide polymorphisms (SNP1-SNP3) could be detected in the patients. The genotype and allele frequencies in SNP1 and SNP2 were notably higher in the SCOS group than in the control group (P < 0.05). These results suggest the critical role of LRWD1 in human spermatogenesis.
Asunto(s)
Proteínas de Microtúbulos/genética , Complejo de Reconocimiento del Origen/genética , Polimorfismo de Nucleótido Simple , Síndrome de Sólo Células de Sertoli/genética , Animales , Pueblo Asiatico/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Japón , Masculino , Ratones , Análisis de Secuencia por Matrices de Oligonucleótidos , Factores de Riesgo , Espermatogénesis/genéticaRESUMEN
PURPOSE: Identification of the unique genes playing critical roles in human embryo cleavage. METHODS: Isolation of human ePAB cDNA using human ovary cDNA libraries and mouse ePAB amino acid sequences, followed by analysis of its expression pattern in various adult tissues and stages during early oocyte development excluding ePABP2. RESULTS: Human ePAB encodes a 330-aa protein and is located on chromosome 20q12-q13.1. The amino acid sequence is 72% homologous with that of mouse ePab. Human ePAB has only three RRMs and lacks a PABP domain; the expression pattern is nonspecific in adult tissues and detected in all stages, from oocyte to blastocyst. Human ePABP2 encodes a 282-aa protein and is located on chromosome 16q24.3. The amino acid sequence is 68% homologous with mouse ePabp2. CONCLUSIONS: We identified human ePAB and ePABP2 cDNA. Human ePAB cDNA is not expressed specific to the ovary. Biological discrepancies exist between the human and the mouse.
Asunto(s)
ADN Complementario/aislamiento & purificación , Regulación de la Expresión Génica/fisiología , Proteínas de Unión a Poli(A)/genética , Adulto , Secuencia de Aminoácidos , Animales , Blastocisto/metabolismo , Fase de Segmentación del Huevo/fisiología , Femenino , Biblioteca de Genes , Humanos , Ratones , Datos de Secuencia Molecular , Oocitos/metabolismo , Proteínas de Unión a Poli(A)/biosíntesis , Proteínas de Unión a Poli(A)/aislamiento & purificación , Proteínas de Unión a Poli(A)/fisiología , EmbarazoRESUMEN
BACKGROUND: The purpose of this study was to investigate the chromosomal complement and developmental potential of in-vitro matured murine oocytes following ICSI by human sperm. METHODS: Heterologous ICSI fertilization between mouse oocytes and human sperm was employed in order to overcome the reduced fertilization rates observed after conventional IVF due to zona hardening during in-vitro maturation, and to assess separately maternal and paternal chromosome complements. Cytogenetic analyses were performed in four types of oocytes: (i) in-vitro matured metaphase II (MII) oocytes; (ii) in-vivo matured MII oocytes; (iii) in-vitro matured oocytes after ICSI; (iv) in-vivo matured oocytes after ICSI. RESULTS: Activation rates after ICSI of in-vitro matured oocytes was lower than that of in-vivo matured oocytes (69.9 versus 97.2%, P < 0.01), and premature chromosomal condensation was only observed in in-vitro matured oocytes. However, there were no significant differences in developmental rates after successful activation between in-vivo and in-vitro matured ICSI oocytes (69.7 versus 76.6%). The incidences of aneuploidy and structural aberrations were similar between the ICSI embryos and non-ICSI (MII) oocytes. Furthermore, the frequency of chromosomal aberrations was not associated with in-vitro or in-vivo maturation. Similar analyses of paternal chromosomes indicated that there were no significant differences in the incidence of chromosomal aberrations between the embryos derived from in-vitro and in-vivo matured oocytes. CONCLUSIONS: These results suggest that in-vitro matured oocytes following ICSI do not lead to an increase in the frequency of aneuploidy and structural aberrations when human sperm are injected into mouse oocytes.
Asunto(s)
Oocitos/fisiología , Inyecciones de Esperma Intracitoplasmáticas , Aneuploidia , Animales , Células Cultivadas , Senescencia Celular , Aberraciones Cromosómicas , Cromosomas/genética , Cromosomas/fisiología , Citogenética , Femenino , Frecuencia de los Genes , Humanos , RatonesRESUMEN
We report the anesthetic management of a 4-yr-old boy with Simpson-Golabi-Behmel syndrome. This syndrome is an X-linked condition characterized by pre- and postnatal overgrowth with visceral and skeletal anomalies. Affected males have a distinctive facial appearance with wide nasal bridge, anteverted nostrils, wide-open mouth, enlarged tongue, and large protruding maxilla and jaw. Although it had been speculated preoperatively that airway management would be complicated by the macroglossia, there was no difficulty in endotracheal intubation in the present patient. Preparations for difficult airway management should be made by the anesthesiologist before induction of anesthesia.
Asunto(s)
Anomalías Múltiples , Anestesia por Inhalación , Cara/anomalías , Ligamiento Genético , Gigantismo , Cromosoma X , Preescolar , Humanos , Cuidados Intraoperatorios , Macroglosia , Masculino , Síndrome , Lengua/cirugíaRESUMEN
A 70-year-old woman developed lymphangioma following surgery for cervical cancer and subsequent radiotherapy. The operation was performed 12 years ago, and a swelling of lower extremities was recognized 8 years ago. Her lower extremities became greatly edematous, and leakage of lymph to the groin was observed. We performed bilateral lumbar sympathetic ganglion block. After the block, lymphedema was relieved dramatically, and the leakage of the lymph to the groin was gradually reduced. We conclude that lumbar sympathetic ganglion block may be very effective in some patients with acquired lymphangioma.
Asunto(s)
Bloqueo Nervioso Autónomo/métodos , Ganglios Simpáticos , Linfangioma/terapia , Anciano , Femenino , Humanos , Región Lumbosacra/inervación , Linfangioma/etiología , Resultado del TratamientoRESUMEN
BACKGROUND: This study was conducted to investigate the effects of supplementation with free radical scavengers on the survival and fertilization rates of freeze-thawed mouse oocytes. METHODS: Superovulated oocytes with cumulus cells were cryopreserved by slow freezing in propanediol combined with a rapid thawing protocol. The cryopreservation medium was supplemented with the antioxidant enzymes superoxide dismutase (SOD) and catalase, and with the nitric oxide (NO) scavenger, haemoglobin (Hb). RESULTS: The addition of 50 IU/ml SOD showed significantly higher survival and fertilization capabilities compared with control (P < 0.01). Oocyte survival was greatly increased by concomitant addition of SOD with 10 IU/ml catalase (P < 0.01). On the other hand, the NO donor (sodium nitroprusside) inhibited survival and fertilization rates (P < 0.05). Significantly decreased survival and fertilization rates were also observed following the addition of high concentrations (10(-3) to 10(-6) nmol/l) of the NO synthase inhibitor N(G)-nitro-L-arginine methyl ester (L-NAME). In contrast, significantly better oocyte survival and fertilization rates were detected with low concentrations (10(-7) nmol/l) of L-NAME. Oocyte survival potential was significantly increased by addition of Hb (1 microg/ml, P < 0.05). Moreover, oocyte survival and fertilization rates were significantly promoted by the concomitant addition of SOD with Hb (P < 0.01). CONCLUSIONS: These results suggest that supplementation of free radical scavengers, particularly combinations of SOD with NO scavengers in freezing and thawing media, improved the post-thaw survival and fertilization rates of cryopreserved mouse oocytes.
Asunto(s)
Criopreservación , Fertilización/efectos de los fármacos , Depuradores de Radicales Libres/farmacología , Oocitos/efectos de los fármacos , Oocitos/fisiología , Animales , Catalasa/farmacología , Supervivencia Celular/efectos de los fármacos , Combinación de Medicamentos , Inhibidores Enzimáticos/farmacología , Hemoglobinas/farmacología , Ratones , Ratones Endogámicos ICR , NG-Nitroarginina Metil Éster/farmacología , Donantes de Óxido Nítrico/farmacología , Nitroprusiato/farmacología , Superóxido Dismutasa/farmacologíaRESUMEN
PURPOSE: To describe the anesthetic management of Cesarean section in a patient with syringomyelia. CLINICAL FEATURES: A 27-yr-old pregnant woman with syringomyelia was scheduled to undergo elective Cesarean section. At the age of 25 yr, she had begun to experience headaches, and at the age of 26 yr, a diagnosis of syringomyelia of the upper spinal cord was made on the basis of magnetic resonance imaging findings. No symptoms other than headache were noted preoperatively. General anesthesia was used for the Cesarean section. After the administration of 1 mg vecuronium as a priming dose, 5 mg vecuronium were injected. At the onset of clinical muscle weakness, 225 mg thiamylal were promptly administered as the induction agent and the patient was intubated (timing principle with priming method) and pressure on the cricoid cartilage applied to prevent regurgitation of stomach contents. Anesthesia was maintained with oxygen, nitrous oxide and isoflurane at a low concentration. Mild hyperventilation was used throughout the procedure. Anesthesia and surgery proceeded without any problem, response to vecuronium was clinically normal and recovery was uneventful. Neurological status remained normal. CONCLUSION: We report the safe use of general anesthesia for Cesarean section in a patient with syringomyelia. Precautions were taken to avoid increases in intracranial pressure and our patient experienced no untoward neurologic event.
Asunto(s)
Cesárea , Siringomielia/complicaciones , Adulto , Anestesia General , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Siringomielia/patologíaRESUMEN
Questionnaires on knowledge of resuscitation were distributed to 3,303 6th-year medical school students from 36 universities. The questionnaire included 13 questions based on the 1992 guidelines for cardiopulmonary resuscitation. From the 13 questions, each student was instructed to select 6 questions concerning assessment of consciousness level, method for confirming respiration, method for securing the airway, method for confirming circulation, pressure points for cardiac massage, and the ratio of respiration and cardiac massage. If all of these six questions could not be answered correctly, it was considered that the student was not able to perform resuscitation according to the guidelines. At least one incorrect answer was given to the six questions by 84% of students, indicating that most medical students are not able to actually perform standard resuscitation. Possible reasons for these results may be the lack of desire on the part of students to master resuscitation, confusion over new findings concerning resuscitation and guideline, insufficient understanding of the difference between the guidelines and new findings by educators, and restricted teaching time for resuscitation. Possible ways to improve the situation include efforts to make students more responsible to master resuscitation, efforts to enhance students' desire to learn, adoption of more practical education, inclusion of such questions in graduation examinations and the national examination for a medical license, adherence by educators to the guidelines, and efforts by educators to make a clear distinction between the guidelines and new findings. With new guidelines for cardiopulmonary resuscitation due out in the year 2000, methods for teaching resuscitation should be reconsidered in order to ensure that all medical students can competently perform resuscitation.
Asunto(s)
Reanimación Cardiopulmonar , Educación de Pregrado en Medicina , Conocimientos, Actitudes y Práctica en Salud , Estudiantes de Medicina , Encuestas y Cuestionarios , Adulto , Reanimación Cardiopulmonar/educación , Humanos , Guías de Práctica Clínica como Asunto , EnseñanzaRESUMEN
We experienced anesthetic management of two patients with insulinoma in whom frequent hypoglycemic episodes with blood glucose levels of 39-42 mg.dl-1 had been observed. Each patient received epidural analgesia with a catheter inserted at the T 9/10 intervertebral space. Anesthesia was induced with propofol 80-100 mg and fentanyl 200 micrograms. Tracheal intubation was facilitated with vecuronium 6 mg. Anesthesia was maintained with continuous infusion of propofol and epidural anesthesia. Rapid measurements of immunoreactive insulin (IRI) were useful for localization of insulinoma during surgery. Perioperative plasma glucose levels could be maintained within normal ranges by continuous infusion of glucose. Rebound hyperglycemic episodes were not observed, and IRI was reduced after removal of the insulinoma. General anesthesia using propofol and epidural block is a useful choice for the anesthetic management of patients undergoing an operation for removal of an insulinoma.
Asunto(s)
Anestesia General , Insulina/sangre , Insulinoma/cirugía , Monitoreo Intraoperatorio , Neoplasias Pancreáticas/cirugía , Propofol , Anciano , Anestesia Epidural , Femenino , Glucosa/administración & dosificación , Humanos , Insulinoma/diagnóstico , Cuidados Intraoperatorios , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/diagnóstico , RadioinmunoensayoRESUMEN
We report the anesthetic management for elective thoracoscopic bullae resection (TBR) using high thoracic epidural (TE) anesthesia in awake patients. Pain and cough reflex caused by the surgical procedure could be controlled well with high TE anesthesia using 20-25 ml of 2% lidocaine. Respiratory and hemodynamic conditions remained stable during the surgical procedure. High TE anesthesia using a large dose of local anesthetic is thought to be suitable for TBR.
Asunto(s)
Anestesia Epidural/métodos , Neumotórax/cirugía , Toracoscopía , Adulto , Estado de Conciencia , Procedimientos Quirúrgicos Electivos , Femenino , Hemodinámica , Humanos , Periodo Intraoperatorio , Lidocaína , Masculino , RespiraciónRESUMEN
We investigated the extent to which NO participates in the developmental competence (oocyte maturation, fertilization and embryo development to blastocyst) using an in vitro culture system adding sodium nitroprusside (SNP), NO donor, and NOS inhibitor (N-omega-nitro-L-arginine methyl ester, L-NAME). We also assessed the effects of NO/NOS system on blastocyst implantation using an in vitro trophoblast outgrowth assay. The treatment of low concentrations of SNP (10(-7) M) significantly stimulated meiotic maturation to metaphase II stages in cumulus enclosed oocytes. In contrast, 10(-3) and 10(-5) M L-NAME demonstrated a significant suppression in resumption of meiosis. This inhibition was reversed by the addition of SNP. No development beyond the four-cell stage was observed by the addition of high concentration of SNP (10(-3) M). Inhibition of embryo development, especially the conversion of morulae to blastocysts, was also observed in the treatment of lower doses of SNP (10(-5) and 10(-7) M). Similarly, inhibition of NO by NOS inhibitor resulted in the dose-dependent inhibition of embryo development and hatching rates, but the concomitant addition of SNP with L-NAME reversed the inhibitory effect by each SNP or L-NAME treatment. Furthermore, low concentration of SNP (10(-7) M) but not high concentration of SNP (10(-3) M) significantly stimulated trophoblast outgrowth, whereas the addition of L-NAME suppressed the spreading of blastocysts in a dose-dependent manner. These results suggest that NO may have crucial roles in oocyte maturation and embryogenesis including the process of implantation. The observed differences in required amount of NO and the sensitivity to cytotoxicity of NO in each developmental stage embryos may also suggest that NO/NOS system is tightly regulated in developmental stage specific manner.
Asunto(s)
Embrión de Mamíferos/fisiología , Desarrollo Embrionario y Fetal , Óxido Nítrico/metabolismo , Nitroprusiato/farmacología , Oocitos/fisiología , Trofoblastos/fisiología , Animales , Blastocisto/fisiología , Técnicas de Cultivo , Embrión de Mamíferos/efectos de los fármacos , Desarrollo Embrionario y Fetal/efectos de los fármacos , Inhibidores Enzimáticos/farmacología , Humanos , Ratones , NG-Nitroarginina Metil Éster/farmacología , Oocitos/efectos de los fármacos , Oocitos/crecimiento & desarrolloRESUMEN
It has been almost 21 years since the first birth of IVF baby and rapid advances in assisted reproductive technology (ART) have taken place. Today, several new technology have been developed such as microfertilization and cryopreservation of embryos and ART has become an important and popular tools for treatment of infertility patients with several causes. However, the take home baby rates have still been low around 15%. To improve the results in ART programs, the improvement of embryo viability and the solution of problems of implantation have been required. Recently, sequential culture media for production of high quality blastocysts have been developed and results have been as good as with co-culture. These culture media are now commercially available. Several authors reported that higher clinical pregnancy rate was achieved and high-order multiple pregnancy can be eliminated with blastocyst transfer. It has been expected that blastocyst transfer would become the means to solve the major problem that ART has faced such as the low take home baby rates and high-order multiple pregnancy.
Asunto(s)
Medicina Reproductiva , Técnicas Reproductivas , Femenino , Predicción , Humanos , Masculino , Embarazo , Resultado del Embarazo , Técnicas Reproductivas/tendenciasRESUMEN
An 84-year-old male with increased intracranial pressure (ICP) and ischemic heart disease was scheduled to undergo brain tumor resection. After induction of anesthesia using midazolam, fentanyl and vecuronium, sinus bradycardia, junctional rhythm and escape-capture bigeminy were observed. In spite of intravenous administration of lidocaine and atropine, the bigeminy did not disappear. As he awoke from anesthesia, his cardiac rhythm changed from a bigeminal to a regular sinus rhythm. After extubation, sinus arrest, which continued for up to 4.8 seconds, appeared frequently. A temporary pacing catheter was inserted and ventricular pacing was started (mode VVI rate 50 min-1). Four days later, the patient was again scheduled to undergo brain tumor resection. After induction of anesthesia with the same drugs as used before, his cardiac rhythm gradually became bradycardic, and a complete pacing rhythm was observed throughout the surgical procedure. After the operation had been completed, his cardiac rhythm changed to a regular sinus rhythm. In addition to degenerative and ischemic changes in the SA node, an increase in ICP secondary to a brain tumor is thought to have induced sick sinus syndrome after the induction of anesthesia.