Geigy Scientific Tables

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

http://directory.umm.ac.id/Data%20Elmu/jurnal/A/Animal%20Reproduction%20Science/Vol60-61.Issue1-4.Jul2000/1973.pdf

Prostatic disorders in the dog

Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea). Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty), generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma) and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency). GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib). Mutations in the genes G6PC (17q21) and SLC37A4 (11q23) respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most commonly confirmed by G6PC (GSDIa) or SLC37A4 (GSDIb) gene analysis, and the indications of liver biopsy to measure G6P activity are getting rarer and rarer. Differential diagnoses include the other GSDs, in particular type III (see this term). However, in GSDIII, glycemia and lactacidemia are high after a meal and low after a fast period (often with a later occurrence than that of type I). Primary liver tumors and Pepper syndrome (hepatic metastases of neuroblastoma) may be evoked but are easily ruled out through clinical and ultrasound data. Antenatal diagnosis is possible through molecular analysis of amniocytes or chorionic villous cells. Pre-implantatory genetic diagnosis may also be discussed. Genetic counseling should be offered to patients and their families. The dietary treatment aims at avoiding hypoglycemia (frequent meals, nocturnal enteral feeding through a nasogastric tube, and later oral addition of uncooked starch) and acidosis (restricted fructose and galactose intake). Liver transplantation, performed on the basis of poor metabolic control and/or hepatocarcinoma, corrects hypoglycemia, but renal involvement may continue to progress and neutropenia is not always corrected in type Ib. Kidney transplantation can be performed in case of severe renal insufficiency. Combined liver-kidney grafts have been performed in a few cases. Prognosis is usually good: late hepatic and renal complications may occur, however, with adapted management, patients have almost normal life span.

/pdf/glucose-6-phosphatase-deficiency-54hj7nlgjq.pdf

Glucose-6-phosphatase deficiency.

Reproduction in mammals is a highly complex biological process. The critical importance of reproduction to propagation of species required the natural evolution of various strategies that vary considerably across species. Regardless of species, a dialogue between the developing conceptus (embryo-fetus and associated placental membranes) and maternal uterus must be established during the peri-implantation period. The uterus must provide a microenvironment that supports growth and development of the conceptus and is receptive to implantation. During the same period, the conceptus must provide its pregnancy recognition signaling to sustain the functional life of corpora lutea for production of progesterone which is essential for implantation and placentation; critical events for successful pregnancy. However, it is within the peri-implantation period that most embryonic deaths occur due to deficiencies attributed to uterine functions or to the failure of the conceptus to develop appropriately, signal pregnancy recognition and/or undergo implantation and placentation. The challenge is to understand the complexity of key mechanisms that are characteristic of successful reproduction in humans and animals and to use that knowledge to enhance fertility and reproductive health or to establish acceptable methods for control of fertility.

Uterine receptivity to implantation of blastocysts in mammals.

Mucometra, cystic endometrial hyperplasia, and pyometra in the bitch: advances in treatment and assessment of future reproductive success.

Long-term motility and fertility conservation of chilled canine semen using egg yolk added Tris-glucose extender: in vitro and in vivo studies.

Endocrinology of pregnancy in the dog: a review.

Canine and feline pregnancy loss due to viral and non-infectious causes: A review

This study reports the long-term effects and reversibility of the administration of Finasteride, a 5 alpha-reductase inhibitor, on the prostate, prostatic fluid composition and volume, sperm output and characteristic, and fertility of adult beagle dogs treated for 21 weeks at a dose of 1 mg kg-1 body weight. Finasteride was not associated with any side effects. After 5 to 15 weeks of treatment, it induced a marked decrease in the size of the prostate and a fall in its secretions and in the production of spermatozoa. Sperm concentration increased and was inversely correlated with the decrease in the volume of prostatic secretions. At maximum effect, the calculated prostate volume was reduced to 30% of the initial value, and together with the reduced prostatic secretion, no ejaculate could be collected despite normal behaviour. These effects were reversible in 6 to 8 weeks after the cessation of treatment. Matings at 20 to 22 weeks after the start of treatment were fertile, demonstrating the absence of long-term effects of this treatment on male fertility. As fertility was not impaired and prostatic benign hyperplasia successfully regressed. Finasteride treatment in this preliminary study appears to be an interesting alternative therapy in valuable breeding dogs with benign prostatic hyperplasia.

J.P. Verstegen

Papers

Mucometra, cystic endometrial hyperplasia, and pyometra in the bitch: advances in treatment and assessment of future reproductive success.

Long-term motility and fertility conservation of chilled canine semen using egg yolk added Tris-glucose extender: in vitro and in vivo studies.

Endocrinology of pregnancy in the dog: a review.

Canine and feline pregnancy loss due to viral and non-infectious causes: A review

Effect of finasteride (Proscar MSD) on seminal composition, prostate function and fertility in male dogs.