1/149. 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 = organ (Clic here for more details about this article) |
2/149. 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 = 2keywords = organ (Clic here for more details about this article) |
3/149. Four cases with chronic intestinal pseudo-obstruction due to hollow visceral myopathy.BACKGROUND/AIMS: Chronic intestinal pseudo-obstruction is a rare clinical syndrome characterized by symptoms and signs of intestinal obstruction without any organic lesion obstructing the intestine. Visceral myopathy is one of the etiological causes and full thickness intestinal biopsy is essential for reaching a diagnosis. In this article we describe 4 cases of hollow visceral myopathy; our aim is to stress the importance of full thickness biopsy. METHODOLOGY: Four cases of hollow visceral myopathy are studied herein. All the patients had recurrent abdominal pain and constipation. The onset of symptoms was early in life or in the second to third decade. A diagnosis was established in all cases by full thickness intestinal biopsy obtained during laparotomy. Associated disorders were noted in 2 cases. One patient had Axenfelt syndrome, non-descended testicles and primary hypogonadism, and another had a diagnosis of Kleinfelter syndrome. RESULTS: All of the 4 cases were diagnosed to be suffering from hollow visceral myopathy by full thickness intestinal biopsy and 2 had additional disorders as well. CONCLUSIONS: patients with chronic intestinal pseudo-obstruction should be carefully evaluated as to whether there is an associated disorder and the diagnosis may be delayed unless full thickness intestinal biopsy is obtained.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/149. Laparoscopic cholecystectomy during pregnancy: three case reports.OBJECTIVE: The purpose of this presentation is to investigate the effects and feasibility of laparoscopic cholecystectomy during pregnancy. methods AND PROCEDURES: We present three pregnant patients who underwent a laparoscopic cholecystectomy for biliary colic during the early second and early third trimester of pregnancy. We also reviewed the literature regarding this topic. RESULTS: All three pregnant patients had uneventful hospital courses after their procedures and delivered full-term babies without complications. Laparoscopic cholecystectomy during the first trimester of pregnancy is contraindicated due to the ongoing fetal organogenesis and during the third trimester is not technically feasible due to the large uterine size. CONCLUSIONS: We conclude that laparoscopic cholecystectomy during the second and very early third trimester of pregnancy is safe and feasible.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
5/149. abducens nerve palsy complicating pregnancy: a case report.We report a case presented at 38 weeks gestation with abducens nerve palsy. No specific pathology was found. After reviewing all the previously reported cases, hypertension is found to be a common factor in all cases presenting in late pregnancy. The clinical course is benign and all resolved after delivery.- - - - - - - - - - ranking = 6.0850922913421keywords = nerve (Clic here for more details about this article) |
6/149. A staff dialogue on a socially distanced patient: psychosocial issues faced by patients, their families, and caregivers.Shortly before his death in 1995, Kenneth B. Schwartz, a cancer patient at massachusetts General Hospital (MGH), founded The Kenneth B. Schwartz Center at MGH. The Schwartz Center is a non-profit organization dedicated to supporting and advancing compassionate health care delivery, which provides hope to the patient, support to caregivers, and encourages the healing process. The center sponsors the Schwartz Center Rounds, a monthly multidisciplinary forum where caregivers reflect on important psychosocial issues faced by patients, their families, and their caregivers, and gain insight and support from fellow staff members. The following case of an hiv-positive woman who was diagnosed with cervical cancer during a twin pregnancy was discussed at the May, 1999 Schwartz Center Rounds. The patient was in drug rehabilitation having been dependent on crack cocaine, with a past history of syphilis and gonorrhea. She was single and her other children were in foster care. Initially she was suspicious and non-compliant. A plan was negotiated to biopsy the cervical lesion after cesarean section and with confirmation of malignancy she underwent radical surgery and subsequently radiotherapy. Despite the almost insurmountable social and educational distance between her and her caregivers, they managed to bond and facilitate care. Although there were compromises with which staff were uncomfortable, the relationship was maintained and continues.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/149. Spontaneous recovery from pathologically confirmed lymphocytic adenohypophysitis with a dramatic reduction of hypophyseal size.A pituitary mass compressing the optic nerve was revealed by magnetic resonance imaging (MRI) in a 35-year-old woman complaining of visual disturbance in the post-partum period. Responses of plasma gonadotropin and corticotropin-cortisol levels to respective hypothalamic hormones were delayed or blunted, but the response of plasma prolactin to thyrotropin-releasing hormone was exaggerated. diabetes insipidus was not associated. biopsy revealed lymphocytic adenohypophysitis, and no hypophysectomy was performed. Only five weeks later, the pituitary mass spontaneously disappeared on MRI. The pituitary function was normalized. Anti-thyroidal and anti-pituitary antibodies were negative throughout the clinical course. Pituitary masses developing during late pregnancy or the post-partum period should be carefully observed.- - - - - - - - - - ranking = 1.2170184582684keywords = nerve (Clic here for more details about this article) |
8/149. pulmonary alveolar proteinosis: two contrasting cases.pulmonary alveolar proteinosis is a rare condition characterized by the abnormal accumulation of surfactant-like material within the alveolar spaces and distal bronchioles. Two cases with contrasting modes of presentation, course, and response to therapeutic whole lung lavage are described. Both cases were in hypoxaemic respiratory failure at the time the definitive diagnosis was made, and in both cases the diagnosis was made by segmental bronchoalveolar lavage following negative open lung biopsy. In neither was an underlying causative organism or agent identified. In one case the alveolar proteinosis developed in late pregnancy, a presentation that is previously unreported. Clinical improvement in this case required repeated whole lung lavages and was accompanied by a trend towards normalization of the ratios of surfactant protein-A and surfactant protein-B to disaturated phospholipid, ratios which may be useful as prognostic indicators. The response to therapeutic lavage was markedly different in the two cases, and it is postulated that this may relate to the fact that alveolar proteinosis is a heterogeneous disease and that the course and response to treatment may relate in part to the specific composition of the abnormal proteinaceous fluid.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/149. Gestational thyrotoxicosis with acute wernicke encephalopathy: a case report.A 35-year-old hyperthyroid woman who developed nausea, vomiting, tachycardia, nystagmus and mental disturbance, was referred to our hospital with a suspected diagnosis of thyroid storm. However, the thyroid gland was only slightly palpable, bruits were not audible, and exophthalmos was not present. serum levels of thyroid hormone were increased, but TSH receptor antibodies were negative. Echography and color flow doppler ultrasonography revealed a slightly enlarged thyroid gland and a slightly increased blood flow, both of which were much less milder than those expected for severe hyperthyroid Graves' disease. Under the diagnosis of hyperthyroidism due to gestational thyrotoxicosis associated with wernicke encephalopathy, vitamin B1 was administered on the first day of admission. Her consciousness became nearly normal on the second day except for slight amnesia. Her right abducent nerve palsy rapidly improved, but horizontal and vertical nystagmus, diminished deep tendon reflexes and gait ataxia improved only gradually. MRI findings of the brain were compatible with acute wernicke encephalopathy. We concluded that history taking and physical findings are important to make a differential diagnosis of gestational thyrotoxicosis with acute wernicke encephalopathy from Graves' thyroid storm, and that wernicke encephalopathy should be treated as soon as possible to improve the prognosis.- - - - - - - - - - ranking = 1.2170184582684keywords = nerve (Clic here for more details about this article) |
10/149. Neonatal mydriasis due to effects of atropine used for maternal Tik-20 poisoning.A neonate was born to a mother who had consumed an organophosphorus(OPC) compound with suicidal intent. The mother was administered atropine and this caused mydriasis in the neonate without any other pharmacological effects. There was no evidence of placental dysfunction. There are no case reports of OPC consumed in pregnancy and its effect on neonates or of effects of massive doses of atropine in the mother and its effects on the fetus or the newborn.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
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