Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). Here we describe a spontaneous mouse mutant that replicates many of the features found in MPS III A in children. Brain sections revealed neurons with distended lysosomes filled with membranous and floccular materials with some having a classical zebra body morphology. Storage materials were also present in lysosomes of cells of many other tissues, and these often stained positively with periodic-acid Schiff reagent. Affected mice usually died at 7-10 months of age exhibiting a distended bladder and hepatosplenomegaly. Heparan sulfate isolated from urine and brain had nonreducing end glucosamine- N -sulfate residues that were digested with recombinant human sulfamidase. Enzyme assays of liver and brain extracts revealed a dramatic reduction in sulfamidase activity. Other lysosomal hydrolases that degrade heparan sulfate or other glycans and glycosaminoglycans were either normal, or were somewhat increased in specific activity. The MPS III A mouse provides an excellent model for evaluating pathogenic mechanisms of disease and for testing treatment strategies, including enzyme or cell replacement and gene therapy.

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The complete mitochondrial genome was obtained from a microchiropteran bat, Artibeus jamaicensis. The presumptive amino acid sequence for the protein-coding genes was compared with predicted amino acid sequences from several representatives of other mammalian orders. Data were analyzed using maximum parsimony, maximum likelihood, and neighbor joining. All analyses placed bats as the sister group of carnivores, perissodactyls, artiodactyls, and cetaceans (e.g., 100% bootstrap value with both maximum parsimony and neighbor joining). The data strongly support a new hypothesis about the origin of bats, specifically a bat/ferungulate grouping. None of the analyses supported the superorder Archonta (bats, flying lemurs, primates, and tree shrews). Our hypothesis regarding the relationship of bats to other eutherian mammals is concordant with previous molecular studies and contrasts with hypotheses based solely on morphological criteria and an incomplete fossil record. The A. jamaicensis mitochondrial DNA control region has a complex pattern of tandem repeats that differs from previously reported chiropteran control regions.

This study evaluated the prevalence of depression, sexual abuse, and physical abuse among women diagnosed with interstitial cystitis (IC). One hundred forty-one subjects completed the validated Beck's Depression Inventory II Questionnaire (BDI-II) and the validated Drossman Abuse Questionnaire. Ninety-seven (69%) subjects scored 14 or higher on the BDI-II, corresponding to depression. When compared to the US prevalence of 9%, this was significantly higher. Fifty-one subjects (36%) reported sexual abuse which is higher than the US average. The prevalence of childhood sexual abuse in the sample was not significantly different than the US average. The prevalence of physical abuse in the sample was not statistically different than the US average. Women with IC appear to have a higher prevalence of depression and sexual abuse than the general population. Women with IC should be screened for depression and abuse and referred to a mental health expert as necessary for treatment.

Pelvic floor muscle dysfunction is a problem that affects women of all ages. The disorder can present as chronic pelvic pain, dyspareunia, rectal pain, chronic constipation, lower back pain, and a wide array of other complaints. As a result of the various presenting symptoms, patients with pelvic floor muscle dysfunction are seen by a variety of health care workers, including obstetrician-gynecologists, urogynecologists, urologists, colorectal surgeons, orthopedic surgeons, physical therapists, chiropractors, pain management specialists, psychotherapists, and others. The purpose of this review is to discuss the etiology, symptomatology, associated conditions, diagnostic tools, and treatment options for this condition.The supportive function of the female pelvic floor is generally achieved by a combination of multiple components working together in a highly coordinated, specialized fashion. This intricate unit is made up of bones, ligaments, muscles, connective tissue, visceral organs, nerves, and vessels. These components are involved in a wide variety of functions that range from simple acts, such as sitting, standing, and walking to more complicated ones, such as child birth, micturition, and defecation. The dynamic capacity of the pelvic floor can be traumatized by a number of events and this can lead to pelvic floor dysfunction. It is important to review the anatomy and function of the pelvic floor, and recognize potential causes for damage and options for treatment when there is dysfunction. ANATOMY BonesThe bony pelvis provides the scaffolding to which the supportive tissues attach. The bones of the pelvis include the pubic bone, the ilium, and the ischium. Ligaments, muscles, fascia, and tendons attach to various parts of the pelvic bones including the ischial spines, rami and tuberosities, the iliac spines, the pubic rami, the sacrum, and the coccyx. The femur is attached to the pelvis via the obturator internus and the piriformis muscles. MusclesThe deep striated muscles of the pelvic floor are made up of the levator ani group that includes the puborectalis, pubococcygeus, and ileococcygeus. The coccygeus, piriformis, and obturator internus muscles also contribute to the pelvic floor. There are smooth muscles that are part of the sphincter mechanism for the urethra and rectum that also contribute to the pelvic floor. 1 Finally, there are superficial muscles such as the bulbospongiosus, ischiocavernosus, and the deep and superficial transverse perinei muscles. 2 These superficial muscles unite at the perineal body, an important component of the pelvic floor.