1/223. maintenance of serum calcium by parathyroid hormone-related peptide during lactation in a hypoparathyroid patient.We describe the changes in calcium homeostasis seen in a hypoparathyroid woman during the third trimester and with lactation following her second pregnancy. During lactation her need for supplemental calcium and calcitriol abated, and in fact she was transiently hypercalcemic and hypophosphatemic. This change was associated with a rise of serum parathyroid hormone-related peptide (PTHrP) released systemically during lactation. This is the first documentation of the time course of serum PTHrP levels from the late third trimester throughout lactation in a hypoparathyroid woman. In this context PTHrP may have sufficient biological activity to compensate for parathyroid hormone deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/223. Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, especially those patients with the salt-losing form, have decreased fertility rates. Pregnancy experience in this population is limited. We report the pregnancy outcomes and serial measurements of maternal serum steroid levels in four women with classic 21-hydroxylase deficiency, three of whom were female pseudohermaphrodites with the salt-losing form. These glucocorticoid-treated women gave birth to four healthy female newborns with normal female external genitalia, none of whom were affected with 21-hydroxylase deficiency. In three women, circulating androgen levels increased during gestation, but remained within the normal range for pregnancy during glucocorticoid therapy. In the fourth patient, androgen levels were strikingly elevated during gestation despite increasing the dose of oral prednisone from 5 to 15 mg/day (two divided doses). Notwithstanding the high maternal serum concentration of androgens, however, placental aromatase activity was sufficient to prevent masculinization of the external genitalia of the female fetus and quite likely the fetal brain, consistent with the idea that placental aromatization of androgens to estrogens is the principal mechanism that protects the female fetus from the masculinizing effects of maternal hyperandrogenism. These four patients highlight key issues in the management of pregnancy in women with 21-hydroxylase deficiency, particularly the use of endocrine monitoring to assess adrenal androgen suppression in the mother, especially when the fetus is female. Recommendations for the management of pregnancy and delivery in these patients are discussed.- - - - - - - - - - ranking = 8keywords = deficiency (Clic here for more details about this article) |
3/223. factor v Leiden and antibodies against phospholipids and protein S in a young woman with recurrent thromboses and abortion.We describe the case of a 39-year-old woman who suffered two iliofemoral venous thromboses, a cerebral ischemic infarct and recurrent fetal loss. Initial studies showed high levels of antiphospholipid antibodies (APAs) and a moderate thrombocytopenia. After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor v Leiden mutation and had a functional protein s deficiency as well as anti-protein S and anti-beta 2-glycoprotein i antibodies. The impairment of the protein c pathway at various points could well explain the recurrent thromboses in the patient and supports the role of a disturbed protein c system in the pathophysiology of thrombosis in patients with APAs.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/223. Lactic acidosis caused by thiamine deficiency in a pregnant alcoholic patient.BACKGROUND: Metabolic acidosis from accumulation of lactic acid is a relatively common condition, whereas its causation by thiamine deficiency is not. methods: We studied a pregnant alcoholic patient who presented with hyperemesis and a high anion gap acidosis. RESULTS: Lactic acidosis and thiamine deficiency were confirmed. The patient's symptoms and acidosis resolved with thiamine administration. CONCLUSIONS: Lactic acidosis caused by thiamine deficiency must be suspected when pregnant patients at risk for thiamine deficiency present with a high anion gap acidosis. A large dose of thiamine must be administered immediately.- - - - - - - - - - ranking = 8keywords = deficiency (Clic here for more details about this article) |
5/223. Infiltration block for caesarean section in a morbidly obese parturient.We report a case of a morbidly obese parturient (150 kg and 150 cm) for emergency lower segment caesarean section for dead foetus. Her pregnancy had been unsupervised. She presented with severe pre-eclampsia, generalized oedema and acute respiratory failure. Caesarean section was performed under infiltration block using lidocaine 0.5-1.0%. Her status improved postoperatively with aggressive physiotherapy, nursing in a semirecumbent position and oxygen supplementation.- - - - - - - - - - ranking = 0.11637253238269keywords = oxygen (Clic here for more details about this article) |
6/223. hellp syndrome with antepartum pulmonary edema--a case report.A 44-year-old pregnant female with a gestation of 29 weeks suddenly developed abdominal pain, nausea, vomiting, and laboratory study showed anemia, elevated liver enzymes, and lower platelets. hellp syndrome was diagnosed and urgent delivery was needed. In order to correct the plasma volume and platelet deficiency, 6 units of both fresh frozen plasma and platelets, were given before operation. However, acute pulmonary edema was noted in the antepartum period. After vigorous treatment, she gave birth to a male infant. The postoperative course was smooth and she and her baby were discharged eleven days later. This case reminded us once again of the importance and necessity of invasive monitoring in fluid management of these patients.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/223. Outcome of a baby born from a mother with acquired juvenile hypothyroidism having undetectable thyroid hormone concentrations.We report a baby born from a mother with strongly positive thyroid stimulation blocking antibody (TSBAB) and nearly undetectable T4 level. This case is a unique model of nearly complete absence of thyroid hormones during fetal and early neonatal life in humans. The infant girl was born by cesarean section, because of fetal bradycardia, after 41 weeks gestation and received mechanical ventilation for 3 days. The TSH level was more than 120 microU/mL in the neonatal thyroid screening. At age 17 days, the results of a thyroid function study showed undetectable free T3 and free T4 concentrations, TSH 550 microU/mL, and TSH receptor antibody (TRAB) 87%. thyroxine at a dose of 30 microg/day was started at age 17 days. The patient required thyroxine treatment until age 8 months. The brain magnetic resonance image at age 2 months revealed reduced brain size. Her auditory brain stem response was absent at age 2 months. The audiogram at age 4 yr revealed sensorineural deafness of 70 dB. When she was 6 yr of age, motor development remained the same as that at age 4 months. Her height was 106 cm (- 1.5 SD). The results of thyroid function study of the mother 23 days after delivery showed undetectable free T3 and free T4, TRAB 84%, and TSBAB 83%. In conclusion, the outcome of severe thyroid hormone deficiency in utero and early in human neonatal life was normal physical growth, fetal distress resulting in cesarean section, difficulty in the onset of breathing, permanent deficit in auditory function, brain atrophy, and severely impaired neuromotor development despite the start of an adequate dose of thyroxine replacement during the neonatal period.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
8/223. Severe alpha1-antitrypsin deficiency and pregnancy.This case study describes a successful pregnancy in a 27-yr-old patient with severe emphysema, secondary to alpha1-antitrypsin deficiency, genotype PiZZ. Despite significant respiratory compromise, more severe than previously reported, no complications ensued. Maternal pulmonary function did not deteriorate significantly until the 32nd week of pregnancy, with an elective Caesarean section being performed during the 37th week. This experience suggests that even severe maternal airflow obstruction is, in itself, not an absolute contra-indication to pregnancy. Pre-pregnancy multidisciplinary counselling is likely to be helpful in these patients, including frank discussion on the risks of pregnancy, the prospects of successful completion and the mother's future prognosis in relation to caring for the child.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
9/223. Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?cyclophosphamide (CP) is an alkylating agent widely used in treating cancer and autoimmune disease. CP is classified as a pregnancy risk factor D drug and is teratogenic in animals, but population studies have not conclusively demonstrated teratogenicity in humans. Six isolated reports of prenatally exposed infants with various congenital anomalies exist, but to date no specific phenotype has been delineated. The purpose of this report is to document a new case of in utero CP exposure with multiple congenital anomalies and to establish an apparent CP embryopathy phenotype. The mother had systemic lupus erythematosus and cyclophosphamide exposure in the first trimester. She also took nifedipine, atenolol, clonidine, prednisone, aspirin, and potassium chloride throughout pregnancy. The infant had growth retardation and multiple anomalies including microbrachycephaly, coronal craniosynostosis, hypotelorism, shallow orbits, proptosis, blepharophimosis, small, abnormal ears, unilateral preauricular pit, broad, flat nasal bridge, microstomia, high-arched palate, micrognathia, preaxial upper limb and postaxial lower limb defects consisting of hypoplastic thumbs, and bilateral absence of the 4th and 5th toes. chromosomes were apparently normal. The reported cases of in utero exposure to cyclosposphamide shared the following manifestations with our patient: growth deficiency, developmental delay, craniosynostosis, blepharophimosis, flat nasal bridge, abnormal ears, and distal limb defects including hypoplastic thumbs and oligodactyly. We conclude that (a) cyclophosphamide is a human teratogen, (b) a distinct phenotype exists, and (c) the safety of CP in pregnancy is in serious question.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/223. Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications.gamma-Cystathionase deficiency (cystathioninemia-cystathioninuria) is a disorder of the transsulfuration pathway characterized by the accumulation of cystathionine in blood and urine. There are probably no clinical consequences. However, maternal gamma-cystathionase deficiency has not been reported. We studied 2 pregnancies and the offspring of these pregnancies in a woman with the pyridoxine-nonresponsive form of the disorder. The outcomes were favorable, suggesting that maternal gamma-cystathionase deficiency may not be deleterious to the pregnant woman or the fetus.- - - - - - - - - - ranking = 7keywords = deficiency (Clic here for more details about this article) |
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