Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc

SEX STEROID-BINDING PROTEINS IN THE PLASMA OF THE GREEN FROG, RANA-ESCULENTA - CHANGES DURING THE REPRODUCTIVE-CYCLE AND DEPENDENCE ON PITUITARY-GLAND AND GONADS

Sex steroid binding proteins (SSBP) have been reported in the plasma of female and male Rana esculenta. In both sexes SSBP bind [H-3]estradiol and [H-3]testosterone with medium-high affinity and high specificity. Using ion-exchange chromatography SSBP resolve into two peaks eluting at 0.27 M (peak I) and 0.36 M (peak II) NaCl. Both peaks bind [H-3]estradiol and [H-3]testosterone equally well. Isoelectrofocusing showed that peak I focused at pH 6.0 and 7.5, whereas peak II focused at pH 6.0. SSBP capacity for [H-3]estradiol and [H-3]testosterone changes throughout the reproductive cycle, showing low levels during the nonbreeding period and increasing levels during the breeding period. Hypophysectomy and/or gonadectomy result in small changes in SSBP capacity. Short-term steroid hormone treatment of gonadectomized animals does not modify SSBP capacity. (C) 1994 Academic Press, Inc

PUTATIVE STEROID-BINDING RECEPTORS AND NONRECEPTOR COMPONENTS AND TESTICULAR ACTIVITY IN THE LIZARD PODARCIS-SICULA-SICULA

Labelled testosterone- and oestradiol-binding molecules have been found in the cytosol and nuclei of lizard testes. DNA-cellulose affinity chromatography was used to separate putative sex-steroid-binding receptors (adhering molecules) and nonreceptor components (nonadhering molecules). A putative androgen receptor (K(d): 10(-10) mol l-1; 3-9 fmol g-1 tissue) was found mainly in the nuclei of testicular cells when actively undergoing spermatogenesis. This suggests that, as in higher vertebrates, testosterone is implicated in spermatogenetic step regulation (meiosis and spermiogenesis) in lizard testis. In the cytosol, testosterone-binding molecules (K(d): 10(-9) mol l-1; 384-784 fmol g-1 tissue) with several properties of androgen-binding proteins are present from autumn to spring. The behaviour of these molecules is consistent with the role assigned to androgen-binding proteins as androgen reservoir.A putative oestrogen receptor is present throughout the sexual cycle, except during the culmination phase (breeding). The putative oestrogen receptor may be involved in the regulation of the first spermatogenetic step (spermatogonia multiplication) and in the induction of post-reproductive refractoriness. This phase is present in temperate-zone lizards.These studies show that the evaluation of sex-steroid-binding molecules is useful in considering the relationships between sex hormones and spermatogenetic activity in the testes of lizards

Presence of a human-like thyroid stimulating hormone (TSH) in Ciona intestinalis

Using a monoclonal antibody against human Thyroid Stimulating Hormone (TSH), we have found that the invertebrate Ciona intestinalis (phylum Chordata, subphylum Tunicata) contains a previously unreported protein which is immunoreactive for anti-human TSH. The amount of this hormone in the blood, endostyle and ovary of C. intestinalis was found to be 0.01+/-0.003, 1.05+/-0.2 and 3.61+/-1.25 mu IU/g of tissue, respectively, using the RIA method, and a value of 0.013+/-0.0043, 1.16+/-0.30 and 3.85+/-1.32 mu IU/g using an immuno-chemiluminescent method. In addition to possessing immunological properties, this protein is able to induce the synthesis of cAMP in rat thyroid cell culture (FRTL-5) and in Chinese Hamster Ovary cells (CHO) transfected with the cDNA for human TSH receptor. This indicates that the putative ciona TSH has the capability to react specifically with receptors for mammalian TSH. Maximum concentrations of ciona TSH-like factor occur during periods of sexual maturity (between May to July), whereas very low concentrations were assayed during the rest of the year suggesting that this hormone may be involved in hormonal function related to sexual maturity. From a phylogenetic point of view, the above data supports the hypothesis for a common origin of a thyroid hormonal system between Tunicata and vertebrates

OVIDUCT 17-BETA-ESTRADIOL RECEPTOR IN THE FEMALE LIZARD, PODARCIS-SICULA-SICULA, DURING THE SEXUAL CYCLE - RELATION TO PLASMA 17-BETA-ESTRADIOL CONCENTRATION AND ITS BINDING-PROTEINS

In the oviparous lizard, Podarcis s. sicula, 17beta-estradiol binding molecules were characterized in the oviduct and plasma. In addition, their concentration was evaluated throughout the annual cycle.In the oviduct, a 17beta-estradiol receptor (ER) is present. It shows high affinity for ligand (4.9-7.0 x 10(-10) M). It is decreased by ovariectomy, and induced by 17beta-estradiol treatment. 17beta-estradiol causes also a ER shift from the cytosol into the nuclei. On sucrose gradient ER behaviour is consistent with the properties of ER obtained from other 17beta-estradiol target organs. At isoelectrofocusing the labeled 17beta-estradiol binding molecules fall into three pH ranges: 5.2-5.6, 7.0-7.7, 8,0-8.7.Nuclear filled ER significantly increases as oviduct grows. This supports an ER role in oviduct stimulation by 17beta-estradiol.In the plasma, 17beta-estradiol binding molecules show many physico-chemical and behavioural properties of steroid-binding proteins (SBPs)

GNRH AND SUBSTANCE-P REGULATE PROSTAGLANDINS AND SEX STEROIDS FROM REPTILIAN (PODARCIS-SICULA-SICULA) OVARIAN FOLLICLES AND CORPORA-LUTEA

The in vitro effects of salmon gonadotropin-releasing hormone (sGnRH), substance P (SP), and their antagonists on prostaglandin F(2α) (PGF(2α)), prostaglandin E2 (PGE2), progesterone, androgens, and estradiol-17β release by follicles and corpus luteum (CL) of the oviparous lizard, Podarcis sicula sicula, were studied. Follicles and CL were divided according to the different developmental stages; follicles: pre-vitellogenic, early- vitellogenic, mid-vitellogenic, and fully grown; CL: CL1 (unshelled eggs in the oviducts), CL2 (shelled eggs in the oviducts). CL3 (eggs laid 6 hr previously), and CL4 (eggs laid 48 hr previously). SGnRH increased PGF(2α) and progesterone release by mid-vitellogenic and fully grown follicles; SP increased PGE2 and estradiol-17β release by pre-vitellogenic, mid- vitellogenic, and fully grown follicles. SGnRH and SP decreased PGE2 and progesterone and increased PGF(2α) by CL1 and CL2. The antagonists of these two neuropeptides induced the opposite effects of those of sGnRH and SP. The present data indicate that sGnRH and SP play different roles in the regulation of prostaglandins and sex steroid production by ovarian follicles and CL of P. s. sicula. © 1994 by Academic Press, Inc

PGF2 alpha, PGE2, progesterone, and estradiol-17 beta, secretion by the corpus luteum of the oviparous lizard, Podarcis sicula sicula. In vitro studies.

The release in vitro of prostaglandin F2 alpha (PGF2 alpha), prostaglandin E2 (PGE2), progesterone, androgens and estradiol-17 beta by the corpora lutea (CL) of the oviparous lizard, Podarcis s. sicula, was studied. In addition, the in vitro effects of PGF2 alpha and PGE2 on sex steroid release by CL were evaluated. Corpora lutea were divided into four types, according to their different developmental stage: CL1 (unshelled eggs in the oviduct); CL2 (shelled eggs in the oviduct); CL3 (eggs laid 6 h previously); CL4 (eggs laid 48 h previously) and were placed into culture. PGF2 alpha secretion was highest in CL4 incubated samples and lowest in CL2 and PGE2 was highest in CL1 and CL2. Progesterone secretion was highest in CL2 and lowest in CL4; androgens were not detectable and estradiol-17 beta secretion was highest in CL2. PGF2 alpha decreased progesterone secreted by CL1, CL2 and CL3, while it did not modify release of androgens and estradiol-17 beta. PGE2 did not affect sex steroid release. These data suggest a role of PGF2 alpha in inducing luteolysis, while PGE2 could be implied in the maintenance of CL. A role of progesterone during gestation of Podarcis s. sicula was also confirmed

PROSTAGLANDINS AND SEX STEROIDS FROM REPTILIAN (PODARCIS-SICULA-SICULA) OVARIAN FOLLICLES AT DIFFERENT DEVELOPMENTAL STAGES

Prostaglandin F2alpha (PGF2alpha), prostaglandin E2 (PGE2), progesterone, androgens, and estradiol-17beta in vitro basal release by follicles of the oviparous lizard, Podarcis s. sicula was studied; in addition, the in vitro effect of PGF2alpha and PGE2 on sex steroid release was evaluated. Follicles were divided according to the different vitellogenic developmental stages: pre-vitellogenic, early-vitellogenic, mid-vitellogenic and fully-grown. PGF2alpha and progesterone basal release was highest in fully-grown follicles; PGE2 and estradiol basal release was highest in early-vitellogenic follicles; androgens basal release was detectable in mid-vitellogenic and fully-grown vitellogenic follicles only. PGF2alpha increased progesterone release by fully-grown follicles; PGE2 increased estradiol release by all follicle types, except by early-vitellogenic ones. The present data suggest that PGF2alpha and PGE2 exert different roles on follicles: PGF2alpha seems to induce ovulation through the mediation of progesterone, while PGE2 seems to be implied in the start and the sustaining of oocyte vitellogenic development through the mediation of estradiol

RELATIONSHIPS AMONG GNRH, SUBSTANCE-P, PROSTAGLANDINS, SEX STEROIDS AND AROMATASE-ACTIVITY IN THE BRAIN OF THE MALE LIZARD PODARCIS-SICULA-SICULA DURING REPRODUCTION

The release of PGF(2 alpha) and PGE(2), progesterone, androgens and oestradiol in vitro, and the aromatase activity in the brain of the male lizard Podarcis sicula sicula during three different phases of the reproductive period were evaluated. In addition, the effects of salmon GnRH, substance P, salmon GnRH antagonist, substance P antagonist, PGF(2 alpha), PGE(2) and acetylsalicylic acid on the release of prostaglandins and sex steroids and on aromatase activity in the brain were evaluated during the same three phases. PGF(2 alpha), oestradiol and aromatase activity were higher during the refractory phase, androgens during the fighting phase, and progesterone during the mating phase, while PGE, was lower during the refractory phase. Treatment with salmon GnRH increased PGF(2 alpha), oestradiol and aromatase activity, but decreased the amount of androgens released. Substance P decreased PGF(2 alpha), oestradiol and aromatase activity, but increased the amount of androgens released. PGF(2 alpha), increased oestradiol and aromatase activity, but decreased the amount of androgens released. Acetylsalicylic acid decreased PGF(2 alpha), oestradiol and aromatase activity, but increased the amount of androgens released. These data suggest that salmon GnRH and substance P have different roles in reproductive processes, with opposite mechanisms, in the central nervous system of this male lizard: salmon GnRH seems to be involved in regulating the refractory phase, while substance P plays a role in regulating the fighting phase

PROSTAGLANDINS AND SEX STEROIDS FROM REPTILIAN (PODARCIS-SICULA-SICULA) OVARIAN FOLLICLES AT DIFFERENT DEVELOPMENTAL STAGES

Prostaglandin F2alpha (PGF2alpha), prostaglandin E2 (PGE2), progesterone, androgens, and estradiol-17beta in vitro basal release by follicles of the oviparous lizard, Podarcis s. sicula was studied; in addition, the in vitro effect of PGF2alpha and PGE2 on sex steroid release was evaluated. Follicles were divided according to the different vitellogenic developmental stages: pre-vitellogenic, early-vitellogenic, mid-vitellogenic and fully-grown. PGF2alpha and progesterone basal release was highest in fully-grown follicles; PGE2 and estradiol basal release was highest in early-vitellogenic follicles; androgens basal release was detectable in mid-vitellogenic and fully-grown vitellogenic follicles only. PGF2alpha increased progesterone release by fully-grown follicles; PGE2 increased estradiol release by all follicle types, except by early-vitellogenic ones. The present data suggest that PGF2alpha and PGE2 exert different roles on follicles: PGF2alpha seems to induce ovulation through the mediation of progesterone, while PGE2 seems to be implied in the start and the sustaining of oocyte vitellogenic development through the mediation of estradiol