Sangwei Lu PhD

• Adjunct Professor, Infectious Diseases

https://publichealth.berkeley.edu/people/sangwei-lu/

Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty treatment for gout 300 mg lopid for sale. Heparan sulfate 6-Osulfotransferase 1 kapous treatment cheap 300mg lopid, a gene involved in extracellular sugar modifications chi infra treatment order lopid with a visa, is mutated in patients with idiopathic hypogonadotrophic hypogonadism medicine lodge ks generic lopid 300mg with amex. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism medications ending in lol cheap generic lopid canada. A shared genetic basis for selflimited delayed puberty and idiopathic hypogonadotropic hypogonadism medications for anxiety buy 300 mg lopid visa. The relationship between estrogen and the decline in delta power during adolescence. Developmental programming: differential effects of prenatal testosterone excess on insulin target tissues. Consensus statement on the use of gonadotropin-releasing hormone analogs in children. Effect of hypothalamic lesions that induce precocious puberty on the morphological and functional maturation of the luteinizing hormonereleasing hormone neuronal system. Empty sella in children and adolescents iwth possible hypothalamic-pituitary disorders. Precocious puberty in two children with neurofibromatosis type I in the absence of optic chiasmal glioma [see comments]. Some hypothalamic hamartomas contain transforming growth factor alpha, a puberty-inducing growth factor, but not luteinizing hormonereleasing hormone neurons. Normal or early development of puberty despite gonadal damage in children treated for acute lymphoblastic leukemia. Evolution of the hyperandrogenismpolycystic ovary syndrome from isosexual precocious puberty: report of two cases. Treated and untreated women with idiopathic precocious puberty: longterm follow-up and reproductive outcome between the third and fifth decades. Mkrn3 functions as a novel ubiquitin E3 ligase to inhibit Nptx1 during puberty initiation. Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. Familial precocious puberty associated with isolated elevation of luteinizing hormone. Syndrome of precocious menstruation and galactorrhea in juvenile hypothyroidism: An example of hormonal overlap in pituitary feedback. Exposure of infants to phyto-oestrogens from soy-based infant formula [see comments]. Adequacy of a single unstimulated luteinizing hormone level to diagnose central precocious puberty in girls. Use of local data to enhance uptake of published recommendations: an example from the diagnostic evaluation of precocious puberty. Leuprolide stimulation testing for the evaluation of early female sexual maturation. Use of leuprolide acetate response patterns in the early diagnosis of pubertal disorders: comparison with the gonadotropin-releasing hormone test. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women. Pelvic ultrasonography in girls with precocious puberty, congenital adrenal hyperplasia, obesity, or hirsutism. Evaluating the roles of folliclestimulating hormone receptor polymorphisms in gonadal hyperstimulation associated with severe juvenile primary hypothyroidism. Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. Incidence and characteristics of pseudoprecocious puberty because of severe primary hypothyroidism. Relationship of polycystic ovary induction to prolactin secretion: Prevention of cyst formation by bromocriptine in the rat. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein Gs. Recurrent ovarian cysts in childhood: Diagnosis of McCune-Albright syndrome by bone scan. Menstrual bleeding in a female infant with congenital adrenal hyperplasia: altered maturation of the hypothalamic-pituitary-ovarian axis. Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls. Aromatase p450 expression in a feminizing adrenal adenoma presenting as isosexual precocious puberty. Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. When should cranial magnetic resonance imaging be used in girls with early sexual development Compensatory ovarian hypertrophy occurs by a mechanism distinct from compensatory growth in the regenerating liver. A randomized trial of 1- and 3-month depot leuprolide doses in the treatment of central precocious puberty. Results of a second year of therapy with the 12-month histrelin implant for the treatment of central precocious puberty. Triptorelin depot for the treatment of children 2 years and older with central precocious puberty. Use of an ultrasensitive recombinant cell bioassay to determine estrogen levels in girls with precocious puberty treated with a luteinizing hormone-releasing hormone agonist. Results of long-term followup after treatment of central precocious puberty with leuprorelin acetate: evaluation of effectiveness of treatment and recovery of gonadal function. Resumption of puberty in girls and boys following removal of the histrelin implant. Adult height in 24 patients treated for growth hormone deficiency and early puberty. Adult height in girls with central precocious puberty treated with gonadotropin-releasing hormone analogues and growth hormone [published erratum appears in J Clin Endocrinol Metab, 84(6), 1978]. Final height after long-term treatment with triptorelin slow release for central precocious puberty: importance of statural growth after interruption of treatment. Long-term continuous suppression with once-yearly histrelin subcutaneous implants for the treatment of central precocious puberty: a final report of a phase 3 Multicenter Trial. Cognitive, Emotional, and Psychosocial Functioning of Girls Treated with Pharmacological Puberty Blockage for Idiopathic Central Precocious Puberty. The efficacy and safety of gonadotropin-releasing hormone analog treatment in childhood and adolescence: a single center, long-term followup study. Gonadotropinsuppressive therapy in girls with early and fast puberty affects the pace of puberty but not total pubertal growth or final height. Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial. Peculiarities of precocious puberty in boys and girls with McCuneAlbright syndrome. Gonadotropin-independent precocious puberty ("testotoxicosis"): influence of maturational status on response to ketoconazole. Anti-Mullerian hormone, inhibin B, and antral follicle count in young women with ovarian failure. Resumption of ovarian function and pregnancies in 358 patients with premature ovarian failure. Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes. The cyclophosphamide equivalent dose as an approach for quantifying alkylating agent exposure: a report from the Childhood Cancer Survivor Study. Gonadal function after bone marrow transplantation for acute leukemia during childhood [see comments]. Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/ phenotype. Molecular characterization and phenotypic expression of mutations in genes for gonadotropins and their receptors in humans. High serum inhibin concentration discriminates autoimmune oophoritis from other forms of primary ovarian insufficiency. Pubertal progression in the presence of elevated serum gonadotropins in girls with multiple endocrine deficiencies. Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant. Hypogonadism in females with Prader-Willi syndrome from infancy to adulthood: variable combinations of a primary gonadal defect and hypothalamic dysfunction. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropinreleasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism. The same molecular defects of the gonadotropinreleasing hormone receptor determine a variable degree of 889. High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. Premature ovarian insufficiency and early depletion of the ovarian reserve in the monogenic Mulibrey nanism disorder. Oncofertility and preservation of reproductive capacity in children and young adults. Premature menopause in survivors of childhood cancer: a report from the childhood cancer survivor study. Current state and controversies in fertility preservation in women with breast cancer. Absence of conclusive evidence for the safety and efficacy of gonadotropin-releasing hormone analogue treatment in protecting against chemotherapy-induced gonadal injury. Premature ovarian insufficiency in childhood cancer survivors: are report from the 915. A new missense mutation in the leptin gene causes mild obesity and hypogonadism without affecting T cell responsiveness. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Effect of hypothalamic and pituitary irradiation on pubertal development in children with cranial tumors. Clinical review 95: Acute and prolonged critical illness as different neuroendocrine paradigms. Decreased fertility among female childhood cancer survivors who received 22-27 Gy hypothalamic/pituitary irradiation: a report from the Childhood Cancer Survivor Study. Menstrual cycles as a determinant of minimum weight for height necessary for their maintenance or onset. Anorexia nervosa: Immaturity of the 24-hour luteinizing hormone secretory pattern. Body weight and the pituitary response to hypothalamic releasing hormones in patients with anorexia nervosa. Amenorrhoea in anorexia nervosa: Assessment and treatment with clomiphene citrate. Exercise-induced activation of the hypothalamic-pituitary-adrenal axis: Marked differences in the sensitivity to glucocorticoid suppression. Mutant prolactin receptor and familial hyperprolactinemia (Comment in N Engl J Med. Cocaine effects on pulsatile secretion of anterior pituitary, gonadal, and adrenal hormones. Physiologic concentrations of dopamine fail to suppress prolactin secretion in patients with idiopathic hyperprolactinemia or prolactinomas. Abnormal patterns of pulsatile luteinizing hormone secretion in women with hyperprolactinemia and amenorrhea: Responses to bromocriptine. Functional Hypothalamic Amenorrhea: An Endocrine Society Clinical Practice Guideline. The clitoral index: A determination of clitoral size in normal girls and in girls with abnormal sexual development. A syndrome of female pseudohermaphroditism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). Hypogonadotropic hypogonadism in infants with congenital hypopituitarism: a challenge to diagnose at an early stage. The effect of the testis on the ovary: structurefunction relationships in a neonate with a unilateral ovotestis (ovotesticular disorder of sex development).

Diseases

• Treacher Collins syndrome
• Orotic aciduria hereditary
• Anemia, sideroblastic
• Steinfeld syndrome
• Reactive hypoglycemia
• Cardiac and laterality defects
• Cyanide poisoning
• Hypertrichosis, anterior cervical
• Congenital ichthyosis, microcephalus, q�riplegia
• Hymenolepiasis

Emerging role of the tissue renin-angiotensin systems in congestive heart failure medications osteoarthritis pain order 300 mg lopid mastercard. Tissue fractionation studies on the relationship between an atrial natriuretic factor and specific atrial granules symptoms 8 weeks pregnant purchase lopid 300mg otc. The natriuretic peptide system in the brain: implications in the central control of cardiovascular and neuroendocrine functions treatment xanthelasma eyelid discount lopid 300 mg otc. Localization symptoms of pneumonia purchase lopid once a day, synthetic regulation symptoms in children buy genuine lopid, and biology of renal atriopeptin-like prohormone medicine numbers buy lopid 300mg without prescription. Hypouricemia in neonates with syndrome of inappropriate secretion of antidiuretic hormone. The need for recognition and treatment [published erratum appears in Am J Dis Child 1993 Apr;147(4):369]. A copeptin-based classification of the osmoregulatory defects in the syndrome of inappropriate antidiuresis. Copeptin in the diagnosis of vasopressin-dependent disorders of fluid homeostasis. A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus. A comparison of diagnostic methods to differentiate diabetes insipidus from primary polyuria: a review of 21 patients. A comparison of plasma vasopressin measurements with a standard indirect test in the differential diagnosis of polyuria. Current state and future perspectives in the diagnosis of diabetes insipidus: a clinical review. Imaging of the sella in the syndrome of inappropriate secretion of antidiuretic hormone. Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus. Prediction of postoperative diabetes insipidus using morphological hyperintensity patterns in the pituitary stalk on magnetic resonance imaging after transsphenoidal surgery for sellar tumors. Renal response to arginine vasopressin in premature infants with late hyponatraemia. Dipsogenic diabetes insipidus: a newly recognized syndrome caused by a selective defect in the osmoregulation of thirst. On the role of antidiuretic hormone in the inhibition of acute water diuresis in adrenal insufficiency and the effects of gluco- and mineralocorticoids in reversing the inhibition. Increased plasma arginine vasopressin in clinical adrenocortical insufficiency and its inhibition by glucosteroids. Hyponatremia and osmoregulation of thirst and vasopressin secretion in patients with adrenal insufficiency. Permissive role of adrenal steroids on the hydroosmotic response across the rabbit cortical collecting tubule. Osmoregulation of plasma vasopressin in three cases with adrenal insufficiency of diverse etiologies. Effect of administration of corticotropin-releasing hormone and glucocorticoid on arginine vasopressin response to osmotic stimulus in normal subjects and patients with hypocorticotropinism without overt diabetes insipidus. Isotonic versus hypotonic solutions for maintenance intravenous fluid administration in children. Plasma arginine vasopressin, diuresis, and neonatal respiratory distress syndrome. Early syndrome of inappropriate secretion of antidiuretic hormone in a child with burn injury. Changes in vasopressin, atrial natriuretic factor, and water homeostasis in the early stage of bronchopulmonary dysplasia. Antidiuretic hormone response in children with bronchopulmonary dysplasia during episodes of acute respiratory distress. Late hyponatremia in premature infants: role of aldosterone and arginine vasopressin. The syndrome of inappropriate antidiuretic hormone secretion as a cause of hyponatremia in cystic fibrosis. Antidiuretic hormone in acute asthma in children: effects of medication on serum levels and clinical course. Regulation of solute and water balance and cell volume in the central nervous system [editorial]. Optic chiasm glioma associated with inappropriate secretion of antidiuretic hormone, cerebral ischemia, nonobstructive hydrocephalus and chronic ascites following ventriculoperitoneal shunting. Carbamazepine-induced hyponatremia in a patient with partial central diabetes insipidus. Studies of the mode of action of the sulfonylureas and phenylacetamides in enhancing the effect of vasopressin. The effect of cyclophosphamide on arginine vasopressin and the atrial natriuretic factor. Studies on the antidiuretic effect of cyclophosphamide: vasopressin release and sodium excretion. Hyponatremia: a prospective analysis of its epidemiology and the pathogenetic role of vasopressin. Initial fluid therapy for children with meningitis with consideration of the syndrome of inappropriate anti-diuretic hormone. Vasopressin levels in infants during the course of aseptic and bacterial meningitis [see comments]. Normalization of plasma arginine vasopressin concentrations when children with meningitis are given maintenance plus replacement fluid therapy [see comments]. High antidiuretic hormone levels and hyponatremia in children with gastroenteritis. Isotonic is better than hypotonic saline for intravenous rehydration of children with gastroenteritis: a prospective randomised study. Disorders of the Posterior Pituitary secretion refractory to treatment in a newborn with alobar holoprosencephaly. Mechanisms of altered water metabolism in psychotic patients with polydipsia and hyponatremia. Plasma concentrations of prolactin, noradrenaline, vasopressin and oxytocin during and after a prolonged epileptic seizure. Excessive secretion of antidiuretic hormone in infections with respiratory syncytial virus. Syndrome of inappropriate secretion of antidiuretic hormone after infusional vincristine. Plasma arginine vasopressin and the syndrome of inappropriate antidiuretic hormone secretion in tuberculous meningitis [see comments]. Raised intracranial pressure, the syndrome of inappropriate antidiuretic hormone secretion, and arginine vasopressin in tuberculous meningitis. Hyponatremia and inappropriate secretion of vasopressin (antidiuretic hormone) in patients with hypopituitarism [see comments]. Commentary: On the use of pitressin in infants with neurogenic diabetes insipidue. Nephrogenic syndrome of inappropriate antidiuresis in a female neonate: review of the clinical presentation in females. Use of conivaptan for refractory syndrome of inappropriate secretion of antidiuretic hormone in a pediatric patient. Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants. Tolvaptan treatment in children with chronic hyponatremia due to inappropriate antidiuretic hormone secretion: a report of three cases. Long-term treatment of patients with inappropriate secretion of antidiuretic hormone by the vasopressin receptor antagonist conivaptan, urea, or furosemide. Atrial natriuretic peptide in patients with the syndrome of inappropriate antidiuretic hormone secretion and with diabetes insipidus. Plasma atrial natriuretic hormone levels in patients with the syndrome of inappropriate antidiuretic hormone secretion. Role of atrial natriuretic peptide in the diuresis of a newborn infant with the syndrome of inappropriate antidiuretic hormone secretion. Alterations in plasma concentrations of natriuretic peptides and antidiuretic hormone after subarachnoid hemorrhage. Hyponatremia in neurological patients: cerebral salt wasting versus inappropriate antidiuretic hormone secretion. Prompt recovery of plasma arginine vasopressin in diabetic coma after intravenous infusion of a small dose of insulin and a large amount of fluid. Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis. Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis. Atrial natriuretic peptide and other vasoactive hormones during treatment of severe diabetic ketoacidosis in children. Pediatric central diabetes insipidus: brain malformations are common and few patients have idiopathic disease. Central diabetes insipidus: clinical profile that suggests organicity in Peruvian children: Lima - Peru 2001-2013. Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus. Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing. Hereditary central diabetes insipidus: plasma levels of antidiuretic hormone in a family with a possible osmoreceptor defect. Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and 325. Neurohypophyseal function in postpartum hypopituitarism: impaired plasma vasopressin response to osmotic stimuli. Frequent occurrence of the triphasic response (diabetes insipidus/hyponatremia/diabetes insipidus) after surgery for craniopharyngioma in childhood. Diabetes insipidus with impaired osmotic regulation in septo-optic dysplasia and agenesis of the corpus callosum. A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction. Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report. Central diabetes insipidus in infancy with or without hypothalamic adipsic hypernatremia syndrome: early identification and outcome. Diabetes insipidus in pediatric germinomas of the suprasellar region: characteristic features and significance of the pituitary bright spot. Diabetes insipidus in preleukaemic phase of acute myeloid leukaemia in 2 patients with empty sella turcica. Monosomy 7 predisposes to diabetes insipidus in leukaemia and myelodysplastic syndrome. Acute myeloid leukemia, the 3q21q26 syndrome and diabetes insipidus: a case presentation. Acute myeloid leukemia presenting with panhypopituitarism or diabetes insipidus: a case series with molecular genetic analysis and review of the literature. The frequency and natural history of diabetes insipidus in children with Langerhans-cell histiocytosis. Anterior pituitary function and computed tomography/magnetic resonance imaging in patients with Langerhans cell histiocytosis and diabetes insipidus. Radiation therapy for diabetes insipidus caused by Langerhans cell histiocytosis [see comments]. Lymphocytic infundibuloneurohypophysitis as a cause of central diabetes insipidus. Lymphocytic hypophysitis causing hypopituitarism and diabetes insipidus, and associated with autoimmune thyroiditis, in a nonpregnant woman. Lymphocytic hypophysitis presenting with diabetes insipidus: case report and literature review. Necrotizing infundibulo-hypophysitis: a unique syndrome of diabetes insipidus and hypopituitarism. Bronchocentric granulomatosis and central diabetes insipidus successfully treated with corticosteroids.

Overland M medications used for anxiety discount lopid 300 mg visa, Li Y 6 medications that deplete your nutrients buy discount lopid 300 mg on line, Cao M 4 medications walgreens order lopid 300 mg overnight delivery, Shen J stroke treatment 60 minutes cheap lopid 300mg line, Yue X medicine 123 discount lopid 300 mg online, Botta S cancer treatment 60 minutes safe 300 mg lopid, et al: Canalization of the vestibular plate in the absence of urethral fusion characterizes development of the human clitoris: the single zipper hypothesis. Approximately 15% of couples will experience infertility, and of these, 20% will have a male factor that is solely responsible; male factors will contribute in an additional 30% of cases. Generally, male infertility is identified by abnormalities on a semen analysis; however, other issues can contribute to infertility despite normal semen. The causes of male infertility are widely varied and are best evaluated by a urologist. Some causes of male infertility can be identified and reversed or improved with specific surgery or medication, while other causes can be identified but not reversed. Occasionally the underlying cause of infertility or an abnormal semen analysis cannot be identified, in which case it is termed idiopathic. These cases may be amenable to empiric treatment to improve the chances of conception. Steroid hormones are derived from cholesterol and unlike peptide hormones are not stored in secretory granules, and as a result their secretion is limited by the rate of production. Since they are lipophilic, steroid hormones are generally cell membrane permeable. In plasma, steroid hormones are largely bound to serum proteins, with only a small "free" component available to diffuse into the intracellular space and bind receptors. Feedback Loops Normal endocrine and exocrine function of the testes depends on the orchestrated action of numerous hormones. Positive and negative feedback are the principal mechanism through which hormonal regulation occurs. By this mechanism, a hormone can regulate the synthesis and action of itself or of another hormone. Further coordination is provided by hormone action at multiple sites and through multiple responses. Hypothalamus the hypothalamus receives and integrates neuronal input from the amygdala, thalamus, pons, retina, and cortex. It is anatomically linked to the pituitary gland by both a portal vascular system and neuronal pathways, thus avoiding the systemic circulation. Peptide hormones are small secretory proteins that bind receptors on the cell surface membrane and induce a series of intracellular events. Hormone signals are transduced by second-messenger pathways whose actions culminate in protein phosphorylation that alters cell function. Two kinds of hormone classes mediate intercellular communication in the reproductive hormone axis: peptide and steroid. The alpha subunits of each hormone are identical and are similar to that of all other pituitary hormones; thus, their unique biologic activities are conferred by the beta subunits. Prolactin is a large (23 kDa), globular protein that potentiates milk production and lactation during pregnancy. It may also potentiate the effects of androgens on the growth and secretions of male accessory sex glands. Activin receptors are found in a host of extragonadal tissues, suggesting that this hormone may have a variety of growth factor or regulatory roles in the body. Thus, it is not surprising that testicular hypotrophy and atrophy are strongly correlated to semen parameters. The Testis Normal male reproduction requires that the testes have both endocrine and exocrine function. Steroidogenesis occurs in the interstitial compartment, where Leydig cells reside. Spermatogenesis occurs in the seminiferous tubules with the support of Sertoli cells. Approximately 2% of testosterone circulates "free" in the serum and is considered the biologically active fraction. While aromatase is present in many tissues, adipocytes play a significant role in the aromatization of testosterone to estradiol. Through these actions, seminiferous tubule growth is stimulated during development and sperm production is initiated during puberty and maintained in adulthood. As a result of this tight junction barrier, spermatogenesis occurs in an immunologically privileged site. Sanctuary from the immune system is critical given that immune recognition develops during the first year of life and spermatozoa are produced at puberty and therefore contain foreign antigens. Germ Cells Germ cells are highly ordered within the cross section of the seminiferous tubules. Spermatogonia sit directly on the basement membrane and are followed by primary spermatocytes, secondary spermatocytes, and finally spermatids within the tubular lumen. The tight junctions of Sertoli cells support spermatogonia and early spermatocytes within the basal compartment while all subsequent stages of germ cell development occur within the adluminal compartment. Spermatogenesis is a cyclic process that involves the division of spermatogonial stem cells into elongated spermatids. Several individual cycles of spermatogenesis coexist within the germinal epithelium at a given time. Cohorts of developmentally similar germ cells are linked by cytoplasmic bridges and mature in unison. This cytoplasmic linkage of cells is organized in a spiral pattern along the seminiferous tubule and results in relatively stable rather than pulsatile production of mature sperm. Stages of Spermatogenesis From puberty onward, the process of spermatogenesis requires rapid and organized cell division, the likes of which are not seen in other cell lines of the human body. As a result, these highly specialized cells are produced in large quantities; up to 300 sperm per gram of testis tissue per second. After the first meiotic division, each daughter cell contains a single partner of the homologous chromosome pair and are termed secondary spermatocytes (2n). During the second meiotic division the chromatids separate at the centromere, yielding haploid spermatids (n). Genetics of Spermatogenesis Mitosis is the process by which somatic cells are replicated to form genetically identical daughter cells. As the result of meiosis, daughter cells called gametes are formed, which contain one-half the genetic material of the parent cell and thus allow for reproduction. This fundamental difference in cell replication generates genetic diversity through natural selection. While motile sperm can often be found within the testicle, the vast majority gain this ability only after traversing the epididymis where further maturation occurs. Anatomically, the epididymis is divided into 3 regions: caput or head, corpus or body, and cauda or tail. While the process of epididymal sperm maturation is still being elucidated, it is clear that several changes occur in sperm as they transit through the epididymis. These changes include alterations in cell membrane polarity, membrane protein composition, immunoreactivity, phospholipid and fatty-acid content, and adenylate cyclase activity. Ovulation typically occurs during the middle of the female menstrual cycle and can be predicted by timing, change in body temperature, chemical detection of the luteinizing hormone surge, or by changes in cervical mucus. This mucus becomes more abundant and watery, thereby facilitating the entry of sperm into the uterus and protecting it from the acidic vaginal environment. Once within the female reproductive tract, sperm undergo physiologic changes in membrane fluidity, collectively referred to as capacitation. These changes allow sperm to hyperactivate, a process characterized by profound changes in motility (large, lashing motions of the sperm tail). On contact with the egg, lytic enzymes are released from the acrosome to allow penetration of the outer surface of the egg. On completion of the acrosome reaction, further contact between sperm and egg is mediated by specific ligands and receptors on the surface of each gamete. Once a single sperm enters the zona pellucida of the ovum, it becomes impenetrable to additional sperm. The sperm centriole, contained within the midpiece is crucial for early spindle formation and ongoing embryogenesis. Spermiogenesis Spermiogenesis is the process by which spermatids mature to become elongated spermatozoa within the basilar compartment of the seminiferous tubules. This process requires several weeks and includes (1) formation of the acrosome from the Golgi body, (2) formation of the flagellum from the centriole, (3) reorganization of the mitochondria around the midpiece, (4) extensive compaction of nuclear material, and (5) elimination of residual cytoplasm. Many cellular elements contribute to the cellular morphologic changes during spermiogenesis, including chromosome structure, associated chromosomal proteins, the perinuclear cytoskeletal theca layer, the microtubules in the nucleus, subacrosomal actin, and Sertoli cell interactions. With completion of spermatid elongation, the Sertoli cell cytoplasm retracts around the developing sperm, stripping it of all unnecessary cytoplasm and extruding it into the tubule lumen. A comprehensive urologic evaluation is important because male infertility may be the presenting symptom of otherwise occult but significant systemic disease. Important components of this history include (1) duration of infertility, coital timing and frequency, and sexual health; (2) prior paternity or fertility treatments; (3) childhood illnesses and development; (4) medical illnesses, prior infections, and medications; (5) prior surgeries or traumas; (6) exposure to potential environmental gonadal toxins, such as heat, radiation, chemical solvents, or pesticides; and (7) exposure to potential lifestyle-based gonadal toxins, such as tobacco, marijuana, alcohol and other recreational drugs. A sexual history is important as many couples do not know how to precisely time intercourse to achieve a pregnancy. Water-based lubricants such as K-Y jelly, most skin lotions, and saliva can reduce sperm motility in vitro and should be avoided. If needed, acceptable lubricants include vegetable, safflower, coconut, and peanut oils as well as egg whites. Given that spermatogenesis generally requires at least 60 days to complete, the impact of such insults may not be observable in the semen until at least 2 months after the event. Surgical procedures on the bladder, retroperitoneum, or pelvis can lead to infertility by causing ejaculatory dysfunction due to damage to the bladder neck, sympathetic nerves or pelvic nerve plexus, respectively. Severe unilateral orchitis occurs in approximately one third of postpubertal mumps infections and bilateral orchitis in 10%. Mumps orchitis likely causes pressure necrosis of testis tissue due to severe edema with later development of testis atrophy. Longitudinal studies of affected boys have shown that abnormally low sperm counts can be found in 30% of men with unilateral cryptorchidism and 50% of men with bilateral undescended testes. While difficult to study from an epidemiologic standpoint, cryptorchidism appears to result in a higher risk of infertility. Antihypertensive agents (thiazides) -Adrenergic blockers (prazosin, phentolamine) Antipsychotic agents Mellaril (thioridazine) Haldol (haloperidol) Librium Antidepressants Imipramine Amitriptyline the perpetuation of genetic abnormalities that may not be normally sustained. The patient should be virilized as signs of decreased body hair or gynecomastia may suggest androgen deficiency or estrogen excess. It is psychologically uncomfortable for young men to have the testes examined, and therefore it is helpful to make the examination as efficient and matter-of-fact as possible. Three features should be noted about the testis: size, consistency, and any associated abnormalities. Standard values of testis size have been reported for normal men and include a mean testis length of 4. Consistency is more difficult to assess but can be described as firm (normal) or soft (abnormal). Testes that are smaller than normal volume are termed hypotrophic, whereas those that are softer than normal are termed atrophic. The presence of testicular mass or lesion would inform additional evaluations to rule out testicular germ cell cancer. Irregularities of the epididymis, located posterior-lateral to the testis, include induration, tenderness, or cysts. Engorgement of the pampiniform plexus of veins in the scrotum is indicative of a varicocele. Asymmetry of the spermatic cords is the usual initial observation, followed by the feeling of a "bag of worms" when retrograde blood flow through the pampiniform veins occurs with a Valsalva maneuver. Varicoceles are usually found on the left side (90%) and may be associated with atrophy of the testis. A discrepancy in testis size between the right and left sides should alert the clinician to this possibility. Penile abnormalities such as hypospadias, abnormal curvature, or phimosis could result in inadequate delivery of semen to the upper vaginal vault during intercourse. Prostatic infection may be detected by the finding of a boggy, tender prostate on rectal examination. Prostate cancer, often suspected with unusual firmness or a nodule within the prostate, can occasionally be diagnosed in infertile men. Loss of prostate contour in a man with low ejaculate volume may indicate a persistent prostate utricle.

Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene treatment esophageal cancer quality 300 mg lopid. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene [see comments] treatment viral meningitis order 300mg lopid with amex. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland treatment naive definition purchase lopid with paypal. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities Receptor Transduction Pathways Mediating Hormone Action pathophysiological and genetic considerations medicine 7 year program buy lopid in india. Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor symptoms 4 months pregnant generic lopid 300 mg mastercard. The same molecular defects of the gonadotropinreleasing hormone receptor determine a variable degree of hypogonadism in affected kindred medications for fibromyalgia 300mg lopid with amex. Generation of thyrotropin-releasing hormone receptor 1deficient mice as an animal model of central hypothyroidism. Gpr40 is expressed in enteroendocrine cells and mediates free fatty acid stimulation of incretin secretion. Studies of relationships between variation of the human G protein-coupled receptor 40 Gene and Type 2 diabetes and insulin release. The hypocretins: excitatory neuromodulatory peptides for multiple homeostatic systems, including sleep and feeding. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. Identification and pharmacological characterization of a novel human melanin-concentrating hormone receptor, mch-r2. The melanin-concentrating hormone receptor couples to multiple G proteins to activate diverse intracellular signaling pathways. Antidepressant, anxiolytic and anorectic effects of a melanin-concentrating hormone-1 receptor antagonist. Preclinical evaluation of melanin-concentrating hormone receptor 1 antagonism for the treatment of obesity and depression. Deletion of Melanin Concentrating Hormone Receptor-1 disrupts overeating in the presence of food cues. Two naturally occurring mutations in the type 1 melanin-concentrating hormone receptor abolish agonistinduced signaling. Melanin-concentrating hormone receptor mutations and human obesity: functional analysis. Sensitivity of orexin-A binding to phospholipase C inhibitors, neuropeptide Y, and secretin. 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