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Objective: This study aims to verify the association between risk factors for the onset of SUI and transobturator suburethral sling surgical treatment outcomes., Patients and Methods: A retrospective study was conducted with 57 patients operated by the Pelvic Floor Surgery Service. Demographic data were compiled from the sample, the body mass index (BMI) was calculated, and the patients were divided according to the response to the surgical treatment., Results: A total of 77.2% of the sample was cured or improved after surgical treatment. Out of the total sample, 75.4% of the women were postmenopausal, and 73.7% denied current or past smoking. The median age was 61 years, the median number of births was 4.0, the median BMI was 28.6 kg/m2, and 50.9% of the sample was classified as pre-obese. BMI, menopausal status, age, smoking, and sexual activity were not factors associated with the surgical outcome. However, parity equal to or greater than 5 was associated with worse postoperative results (p = 0.004)., Conclusions: among risk factors associated with the emergence of SUI, only parity greater than 4 showed a negative impact on transobturator sling surgery outcomes.

Objective: To evaluate the applicability of the technique of vaginal hysterectomy in non-prolapsed uterus., Methods: A retrospective cohort study with 220 patients submitted to vaginal hysterectomy from January 2004 to July 2010 by the Vaginal Surgery and Pelvic Floor Team. Patients mean age was 44.4 years and they had on average three births (0-10 deliveries). The surgery was performed even in cases of previous abdominal surgery, and cesarean section was prevalent in 54.6% of patients., Results: The mean uterus weight was 278.9 g. The mean operative time was 93 minutes, and length of hospital stay was 24 hours after surgery in 65% of cases. There were no cases of visceral injury. The mean postoperative complication was cellulitis of the vaginal vault that occurred in 11 cases (5%) that received antibiotics. Mean blood loss corresponded to 1.4 g/dL hemoglobin. From the analyzed sample, vaginal hysterectomy by vaginal route was feasible in 96.8% of patients, and abdominal conversion was necessary in 3.2%., Conclusion: Vaginal hysterectomy is a minimally invasive surgery, with fewer complications, and low morbidity. We believe that this procedure should be indicated to treat gynecological benign diseases.

Objective: To evaluate the knowledge of adolescents living in Vila Ana and Morada das Vinhas region, in the city of Jundiaí, State of São Paulo, Brazil, on prevention and diagnosis of the main sexually transmitted diseases (STDs) and on cervical cancer, as well as the immediate impact of educational lectures., Methods: A prospective cross-sectional study was performed to assess the knowledge of a particular group of female adolescents about STDs and cervical cancer, by means of a questionnaire applied before and after educational lectures., Results: After the lecture, there was an increased number of correct answers about sexual education, knowledge about HPV (44%), and prevention of cervical cancer (22%)., Conclusion: The adolescents in our study had little knowledge about STDs and cervical cancer, but educative lectures could change this reality at a low cost to Public Health services.

Objective: To assess the prevalence of stress urinary incontinence, urge incontinence and mixed urinary incontinence among women residing in the city of Jundiaí (São Paulo, Brazil), and the relation between the type of incontinence and the obstetric history of these women., Methods: A cross-sectional community-based study was conducted. A total of 332 women were interviewed; they were seen for whatever reason at the public primary healthcare units of the city of Jundiaí, from March 2005 to April 2006. A pre-tested questionnaire was administered and consisted of questions used in the EPINCONT Study (Epidemiology of Incontinence in the County of Nord-Trondelag). Statistical analysis was carried out using the χ2 test and odds ratio (95%CI)., Results: Urinary incontinence was a complaint for 23.5% of the women interviewed. Stress urinary incontinence prevailed (50%), followed by mixed urinary incontinence (35%) and urge incontinence (15%). Being in the age group of 35-64 years, having a body mass index of 30 or greater and having had only vaginal delivery or cesarean section, with uterine contraction, regardless of the number of pregnancies, were factors associated with stress urinary incontinence. However, being in the age group of 55 or older, having a body mass index of 30 or greater and having had three or more pregnancies, only with vaginal deliveries, were factors associated with mixed urinary incontinence., Conclusions: One third of the interviewees complained of some type of urinary incontinence, and half of them presented stress urinary incontinence. Cesarean section, only when not preceded by contractions, was not associated with stress urinary incontinence. The body mass index is only relevant when the stress factor is present.

We present the concept of natural orifice surgery and of scarless operations, with their access routes, their multidisciplinary character, and challenges to their development. We point out the intra- and postoperative advantages. We emphasize the use of the vaginal route and posterior colpotomy in the application of natural orifice surgery in vaginal hysterectomies and surgical access to adnexa, which includes tubal ligation. We highlight the need for mastering these surgical modalities, which can bring great advantages to patients in Brazil.

The dystrophin gene, located at Xp21, codifies dystrophin, which is part of a protein complex responsible for the membrane stability of muscle cells. Its absence on muscle causes Duchenne Muscular Dystrophy (DMD), a severe disorder, while a defect of muscle dystrophin causes Becker Muscular Dystrophy (DMB), a milder disease. The replacement of the defective muscle through stem cells transplantation is a possible future treatment for these patients. Our objective was to analyze the potential of CD34+ stem cells from umbilical cord blood to differentiate in muscle cells and express dystrophin, in vitro. Protein expression was analyzed by Immunofluorescence, Western Blotting (WB) and Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR). CD34+ stem cells and myoblasts from a DMD affected patient started to fuse with muscle cells immediately after co-cultures establishment. Differentiation in mature myotubes was observed after 15 days and dystrophin-positive regions were detected through Immunofluorescence analysis. However, WB or RT-PCR analysis did not detect the presence of normal dystrophin in co-cultures of CD34+ and DMD or DMB affected patients' muscle cells. In contrast, some CD34+ stem cells differentiated in dystrophin producers' muscle cells, what was observed by WB, reinforcing that this progenitor cell has the potential to originate muscle dystrophin in vitro, and not just in vivo like reported before.

Congenital muscular dystrophies (CMD) are characterized by neonatal hypotonia and/or artrogriposis associated with a dystrophic muscle biopsy. The CMD1A form is caused by a deficiency of the alpha2 chain of laminin 2 (LAMA2 gene at 6q2), a protein present in the basal lamina of muscle fibers, in Schwann cells, epidermis, and in fetal trophoblastic tissue. This allows its study for prenatal diagnosis in the chorionic villous (CV), which was performed in a family with one deceased affected CMD1A child. Immunohistochemical analysis of the CV using antibodies against the C- and N-terminal domains of the alpha2-laminin protein showed a normal positive labeling for both antibodies in the "at-risk" CV, which did not differ from the normal control CV. The integrity of the CV membrane was confirmed through the analysis with antibodies against alpha1, beta1, and gamma1 laminins. DNA study using markers flanking the 6q2 region showed that the affected patient and the "at-risk" fetus did not share the same haplotype. Therefore, the fetus was considered normal through both methodologies, which was confirmed after the birth of a clinically normal male baby. As the LAMA2 gene is very large and the spectrum of mutations causing disease is wide, the analysis of the protein in muscle biopsy has been largely used for the diagnosis. Besides, the possibility to detect it in the chorionic villous, mainly using positive markers, also offers a powerful tool for prenatal diagnosis.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (ED1) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin-A; EDA-A) involved in the developmental process of epithelial-mesenchymal interaction. ED1 mutations that cause alterations in this protein lead to the XLHED phenotype. The major objective of the present study was to detect ED1 mutations in four Brazilian families with the XLHED phenotype and to compare them to the more than 60 different mutations already reported. DNA of the EDA-A coding exons was amplified by PCR, and single strand conformation analysis (SSCA) of the electrophoretic bands was carried out in polyacrylamide gel stained with silver nitrate. Two of these four families showed altered DNA band patterns. Subsequent DNA sequencing of the two mutated exons showed: (1) a 36 nucleotide deletion at exon 5 responsible for the loss of four Gly-X-Y repeats of the collagen subdomain of EDA-A; (2) a guanine deletion at exon 6 (966 or 967 sites) that alters EDA-A after amino acid 241 and leads to a premature ending at amino acid 279. This mutation at exon 6 seems not to have been reported previously and determines a truncated EDA-A without a part of its extracellular domain that contains the whole TNF homologue subdomain. These two DNA mutations are compatible with the XLHED phenotype. In the other two families the PCR-SSCA methodology was unable to detect any mutation responsible for the XLHED phenotype., (Copyright 2003 Wiley-Liss, Inc.)

We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others.

During a routine ultrasound study on a fetus at 21 weeks, nuchal edema was noted. At 21 weeks, repeat ultrasound study at our unit showed scalp and neck edema and a femur length/biparietal diameter ratio below the mean. Transabdominal chorionic villus sampling identified a 48.XYY, +21 chromosome constitution. The fetus had normal internal/external genitalia and signs of Down syndrome.

Two brothers each had one normal upper limb; one had tridactylous ectrodactyly of one hand with normal forearm bones; the other had monodactyly of one hand with absent ipsilateral ulna. Both had monodactyly of the feet, absence of the tibiae, and unilateral bifurcation of the femur. A sister of the paternal grandfather was purportedly similarly affected. Since her parents and the father and paternal grandfather of the affected boys were normal, the pattern of inheritance of the trait in this family is presently unclear.

We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.

We report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.

We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.

We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto-brachy-poly-syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto-nasal "dysplasia" syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Clinical and genetic aspects of the present family are discussed.

A case of thalidomide syndrome diagnosed by ultrasound in the 17th week of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy.

We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.

The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes. Occasionally other skeletal or nonskeletal defects are present. This is an autosomal dominant trait with complete penetrance and variable expressivity. Prognosis for mental and physical development of the affected patients is good, surgery being indicated primarily for aesthetic and functional correction of polydactyly and syndactyly. We report on a Brazilian family in whom the mother and two of three sons were affected.

Here we describe a 12-year-old boy with finger and toe contractures, obesity, mental retardation, osteoporosis, and genital anomalies. This clinical picture was first described by Urban et al. [1979] and has been designated as "Prader-Willi habitus, osteoporosis, and hand contractures." To our knowledge, our patient represents the second report of this condition.

We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote.

We report on two Brazilian sisters who have a probably autosomal recessive ectodermal dysplasia of trichodysplasia, dental anomalies, onychodystrophy, skin alterations, and other findings. This appears to be the first full report of this condition for which we propose the name odontoonychodysplasia with alopecia.

We report on three members of a Brazilian family with distal arthrogryposis type II D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated vertebral anomalies and distal contractures. To the best of our knowledge, this family is the second literature report of distal arthrogryposis type II D.