1/299. prenatal diagnosis of thyroid hormone resistance.A 29-yr-old woman with pituitary resistance to thyroid hormones (PRTH) was found to harbor a novel point mutation (T337A) on exon 9 of the thyroid hormone receptor beta (TRbeta) gene. She presented with symptoms and signs of hyperthyroidism and was successfully treated with 3,5,3'-triiodothyroacetic acid (TRIAC) until the onset of pregnancy. This therapy was then discontinued in order to prevent TRIAC, a compound that crosses the placental barrier, from exerting adverse effects on normal fetal development. However, as the patient showed a recurrence of thyrotoxic features after TRIAC withdrawal, we sought to verify, by means of genetic analysis and hormone measurements, whether the fetus was also affected by RTH, in order to rapidly reinstitute TRIAC therapy, which could potentially be beneficial to both the mother and fetus. At 17 weeks gestation, fetal dna was extracted from chorionic villi and was used as a template for PCR and restriction analysis together with direct sequencing of the TRbeta gene. The results indicated that the fetus was also heterozygous for the T337A mutation. Accordingly, TRIAC treatment at a dose of 2.1 mg/day was restarted at 20 weeks gestation. The mother rapidly became euthyroid, and the fetus grew normally up to 24 weeks gestation. At 29 weeks gestation mild growth retardation and fetal goiter were observed, prompting cordocentesis. Circulating fetal TSH was very high (287 mU/L) with a markedly reduced TSH bioactivity (B/I: 1.1 /- 0.4 vs 12.7 /- 1.2), while fetal FT4 concentrations were normal (8.7 pmol/L; normal values in age-matched fetuses: 5-22 pmol/L). Fetal FT3 levels were raised (7.1 pmol/L; normal values in age-matched fetuses: <4 pmol/L), as a consequence of 100% cross-reactivity of TRIAC in the FT3 assay method. To reduce the extremely high circulating TSH levels and fetal goiter, the dose of TRIAC was increased to 3.5 mg/day. To monitor the possible intrauterine hypothyroidism, another cordocentesis was performed at 33 weeks gestation, showing that TSH levels were reduced by 50% (from 287 to 144 mU/L). Furthermore, a simultaneous ultrasound examination revealed a clear reduction in fetal goiter. After this latter cordocentesis, acute complications occured, prompting delivery by cesarean section. The female neonate was critically ill, with multiple-organ failure and respiratory distress syndrome. In addition, a small goiter and biochemical features ofhypothyroidism were noted transiently and probably related to the prematurity of the infant. At present, the baby is clinically euthyroid, without goiter, and only exhibits biochemical features of RTH. In summary, although further fetal studies in cases of RTH are necessary to determine whether elevated TSH levels with a markedly reduced bioactivity are a common finding, our data suggest transient biochemical hypothyroidism in RTH during fetal development. Furthermore, we advocate prenatal diagnosis of RTH and adequate treatment of the disease in case of maternal hyperthyroidism, to avoid fetal thyrotrope hyperplasia, reduce fetal goiter, and maintain maternal euthyroidism during pregnancy.- - - - - - - - - - ranking = 1keywords = cord (Clic here for more details about this article) |
2/299. spinal cord injury in a fetus.In her eighth month of pregnancy a woman was stabbed in the abdomen with a barbecue fork. Upon delivery one week later, the child was noted to have two scars in the thoracic region on the back. The legs were flaccid. Surgical exploration at the age of seven months revealed marked, dense scarring of spinal cord and arachnoid membrane. No similar case was found in the literature.- - - - - - - - - - ranking = 1.6426342122885keywords = spinal, cord (Clic here for more details about this article) |
3/299. prenatal diagnosis of dyssegmental dysplasia. A case report.BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally. The correct differentiation of the subtype of dwarfism is difficult at times. Dyssegmental dysplasia is probably an exception to these subtypes because the vertebral disorganization and occipital encephalocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarfism, was referred at 27 weeks' gestation for cystic hygroma. Further sonographic findings included: cystic hygroma with massive ascites, micromelia, occipital encephalocele, spinal disorganization and hydramnios. The fetus and both parents appeared to have a normal karyotype. Later the pregnancy was terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with protuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental dysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes possible as early as the first trimester.- - - - - - - - - - ranking = 0.39263421228845keywords = spinal (Clic here for more details about this article) |
4/299. Anaesthetic management of a woman who became paraplegic at 22 weeks' gestation after a spontaneous spinal cord haemorrhage secondary to a presumed arteriovenous malformation.A 19-yr-old woman developed a paraplegia with a T10 sensory level at 22 weeks' gestation. The spinal injury was caused by spontaneous bleed of a presumed arteriovenous malformation in the spinal cord. She presented for Caesarean section at term because of the breech position of her fetus. The successful use of a combined spinal epidural-regional anaesthetic is described and the risks of general and regional anaesthesia are discussed.- - - - - - - - - - ranking = 6.5172377185675keywords = spinal cord, spinal, cord (Clic here for more details about this article) |
5/299. Devic's neuromyelitis optica during pregnancy in a patient with systemic lupus erythematosus.Neuropsychiatric forms of systemic lupus erythematosus (SLE) vary, most commonly consisting of seizures, psychiatric disturbances, or focal central nervous deficits. This is a new case of neuromyelitis optica or Devic's syndrome during the course of SLE. Few reports of this association exist in the literature. Our objective is to report this unique case of Devic's neuromyelitis optica during pregnancy in a patient with systemic lupus erythematosus. A 28-year-old woman had been diagnosed as having SLE with cutaneous and articular involvement in 1987 when she was 17 years old. She was treated with a synthetic antimalarial agent associated with corticosteroids. In 1994, during the fourth month of pregnancy, she had signs of transverse myelitis with a sensory level at T6 associated with an optic neuropathy suggesting a Devic's syndrome. The patient was managed by plasmapheresis sessions and intravenous corticosteroids. Transverse myelitis recurred postpartum and three years later at the same thoracic level. Management by bolus administration of a steroid and cyclophosphamide resulted in remission again. There have only been around a dozen reports in the literature of patients who had both Devic's neuromyelitis optica and SLE. magnetic resonance imaging is contributive to diagnosis and therapeutic follow-up, showing spinal cord lesions with increased intensity on T2-weighted sequences. Although the clinical course of the present patient has been favourable so far, the prognosis of this neurologic disease is generally considered to be poor with elevated mortality.- - - - - - - - - - ranking = 1.1463938587981keywords = spinal cord, spinal, cord (Clic here for more details about this article) |
6/299. Transplacental passage of anti-thyroid auto-antibodies in a pregnant woman with auto-immune thyroid disease.We report the intra-uterine and postnatal thyroid status of a newborn, whose mother, affected with Hashimoto's thyroiditis superimposed on a previous Graves' disease, again became hyperthyroid during the third trimester of pregnancy. The mother had very high levels of anti-thyroid auto-antibodies, including TSH receptor auto-antibodies (TRAb) measured as TSH-binding inhibiting auto-antibodies (TBIAb). In order to exclude fetal thyroid dysfunction due to passive transplacental transfer of TRAb, fetal blood samples were obtained by cordocentesis at 21, 27 and 32 weeks of gestation. A transplacental transfer of TRAb was already seen at 21 weeks, but no alteration of fetal thyroid function was present at that time. In the following weeks, a rise in TRAb and circulating thyroid hormones was observed both in the fetus and mother, accompanied by overt hyperthyroidism in the mother and by growth retardation in the fetus. At birth, TRAb were shown to have stimulating activity both in the newborn and mother. This report documents the early transplacental passage of thyroid auto-antibodies and underlines the importance of close follow-up of pregnant women with auto-immune thyroid disorders.- - - - - - - - - - ranking = 0.25keywords = cord (Clic here for more details about this article) |
7/299. prenatal diagnosis of complicated abdominal wall defects.The accurate prenatal diagnosis of anterior abdominal wall defects is important because it affects patient management and prognosis. The pathophysiology of each defect leads to key characteristics that make it possible to differentiate one entity from another. Among these features are the location of the defect in relation to cord insertion, the size and contents of the defect, and the associated anomalies. This article reviews the underlying defects, the characteristic ultrasound findings, the associated anomalies, and the prognosis of simple and complicated abdominal wall defects. The basic features of simple abdominal wall defects (i.e., omphalocele and gastroschisis) were used as the initial points of assessment. A comparison of the different features of these abnormalities and how they differ from one another resulted in the development of criteria that facilitated the understanding of the different ultrasound manifestations of these anomalies.- - - - - - - - - - ranking = 0.25keywords = cord (Clic here for more details about this article) |
8/299. Spinal anaesthesia for caesarean section in a patient with systemic sclerosis.We describe the management of a diabetic primigravid woman with systemic sclerosis and thrombocytopaenia who required Caesarean section for pre-eclampsia. This was performed successfully under spinal anaesthesia.- - - - - - - - - - ranking = 0.39263421228845keywords = spinal (Clic here for more details about this article) |
9/299. Suicidal paracetamol poisoning of a pregnant woman just before a delivery.The aim of the paper is to present a case of self-poisoning with paracetamol, overdosed just before a delivery. A 21-year-old woman was admitted to Obstetric and gynecology Ward of local hospital in the second stage of physiological delivery, more than 6 hours after she had ingested 19 g of acetaminophen for self-poisoning. She delivered a normal infant weighing 3520 g who had Apgar scores of 10, and then both infant and mother were sent in an emergency ambulance to the nearest poison centre. Blood samples for toxicological examination were taken on admission to toxicological intensive care unit i.e. 11 hours post maternal ingestion. acetaminophen levels of both patients were above the acetaminophen overdose nomogram line and the antidote treatment, i.v. N-acetylcysteine was administered according to the protocol: the mother within 11 hours post-ingestion and approximately 4 hours after a delivery; the neonate within 11 hours post maternal ingestion and 4 hours of life. Higher paracetamol concentration in the blood of infant compared to the mother's was noted in the first and then control toxicological examination performed within 35 hours post maternal ingestion. Peak maternal aspartate aminotransferase (AST) activity was 326 U/L within 35 hours and alanine aminotransferase (ALT) activity was 262 U/L within 56 hours post-ingestion. The highest neonatal enzyme activity was noted within 11 hours post maternal ingestion of paracetamol, and the elevation was not high. Except moderate anaemia in the mother, no clinical or biochemical symptoms of renal, cardiovascular or CNS injury were stated in the mother or infant. Normalisation in the maternal enzymes activity was stated within 226 hours, while in the neonatal within 58 hours post maternal ingestion. The woman recovered without sequelae and was discharged from hospital on the 11th day following paracetamol overdosing. No evidence of the liver injury was found in the infant either.- - - - - - - - - - ranking = 0.25keywords = cord (Clic here for more details about this article) |
10/299. Caesarean section in a patient with paramyotonia congenita.This case report details spinal anaesthesia for an elective caesarean section in a patient with the rare condition of paramyotonia congenita. There are few case reports of anaesthesia in this condition and none in the Australian anaesthetic literature. This case highlights the need for the avoidance of hypothermia and depolarizing muscle relaxants, the safety of spinal anaesthesia and a conservative approach to the management of plasma potassium concentration. The subsequent review outlines the current literature and discusses other issues involved in the anaesthetic management of this disorder.- - - - - - - - - - ranking = 0.7852684245769keywords = spinal (Clic here for more details about this article) |
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