Transitions of each inhibitor in a patient with lupus anticoagulant and anti-prothrombin antibody

In a 2-year-old girl showing purpura on her legs after administration of antibiotics, marked prolongation of activated partial thromboplastin time(APTT) and prothrombin time was noted. Circulating anticoagulants were demonstrated by the failure to correct APTT on neutralization test. A lupus anticoagulant(LA), one of the circulating anticoagulants, was detected by rabbit brain phospholipid neutralization procedure and platelet neutralization procedure. On crossed immunoelectrophoresis, the abnormal prothrombin peaks with reduced electrophoretic mobilities were considered prothrombin/prothrombin-antibody complexes because pretreatment with anti-human IgG serum caused their disappearance. This prothrombin-antibody seemed to be another circulating anticoagulant. The anti-prothrombin-antibody reduced prothrombin activities in the circulating blood of the patient to 20 approximately 30% of normal and the condition persisted for two weeks resulting in the purpura which occurred during that period. After two months, APTT was restored to normal following the disappearance of LA.     

Prevalence of autoantibodies associated with glomerulonephritis, unaffected after extracorporeal shock wave lithotripsy for renal calculi, in a three-year follow-up

A very rare case of full trisomy 18 associated with multiple hepatoblastomas is reported. The patient also had ventricular septal defect and patent ductus arteriosus, which were repaired at 6 months of age. After the cardiac surgery, she was noted to have an abdominal mass and an elevated serum alpha-fetoprotein level. A partial hepatic lobectomy was performed at 7 months of age, and the resected tumor was diagnosed as a fetal-type hepatoblastoma. At 2 years and 4 months of age, a chest radiography disclosed an elevated left diaphragm, and abdominal ultrasonography demonstrated a tumor in the left hepatic lobe. The resected tumor was also diagnosed as a fetal-type hepatoblastoma. Chromosomal analysis demonstrated that the karyotypes of peripheral blood and hepatic tumor cell obtained on two occasions were both 47,XX, +18. She has no evidence of recurrence at 3 years of age without specific therapy.     

Pharmacokinetics of meropenem in critically ill patients with acute renal failure treated by continuous hemodiafiltration

A prospective, randomized, double-blind and placebo-controlled study was conducted to assess the effectiveness of i.v. administration of 6% hydroxyethyle starch solution (HES) in preventing moderate and severe ovarian hyperstimulation syndrome (OHSS) in patients in an in-vitro fertilization programme. A total of 101 women who had serum oestradiol concentrations >1500 pg/ml and/or more than 10 follicles on day of human chorionic gonadotrophin (HCG) administration were recruited into two groups: HES group (n = 51) received 1000 ml 6% HES; and the placebo group (n = 50) received 1000 ml of sodium chloride 0.9% solution at the time shortly after embryo transfer. Follow-up examinations 7 +/- 1 and 14 +/- 1 days after embryo transfer included transvaginal ultrasound (diameters of each ovary and maximum cysts, number of cysts, ascites), blood tests (serum oestradiol, progesterone, beta-HCG, C-reactive protein, blood count, plasma proteins, electrolytes, kidney function tests) and evaluation of abdominal pain, nausea, diarrhoea, abdominal swelling and weight gain. Only one moderate OHSS developed in the HES group whereas seven moderate-severe cases were observed in the placebo group (P = 0.031). Furthermore, serum oestradiol concentration, leukocyte count, increase in abdominal circumference and weight gain 14 days after embryo transfer were significantly higher in the placebo group. There were no differences between the two groups in terms of age, oestradiol concentration and number of follicles at time of HCG injection. Administration of 6% HES prevents the development of moderate-severe OHSS in risk patients.     

Psychosocial risk factors in near-fatal asthma and in asthma deaths

We report a patient with familial myoclonus showing an extremely benign clinical course. The patient was a 70-year-old woman, who first noticed shaking of hands at age of 25. The symptom did not worsen for more than 40 years. She visited our hospital at the age of 70 because of disturbance in chores because of worsening of her hand shaking in the past one year. A family history showed that 4 members had similar symptoms and that the two were afflicted with fits of loss of consciousness. On neurologic examination, rhythmic myoclonic jerks were noted in all the extremities, more in the upper limbs, both at rest and during action. Tandem gait was mildly disturbed. The remainings of neurologic examination were normal. SEP and jerk-locked back averaging provided evidence of cortical myoclonus. EEG showed multifocal polyspike discharges. Gene analysis for DRPLA, pyruvate and lactate levels in serum and the cerebrospinal fluid, serum amino acid levels, and CSF HVA and 5-HIAA levels were all normal. No brain atrophy was noted in cranial MRI. Myoclonus was markedly reduced after administration of clonazepam. The clinical features and electrophysiological data of our patient are consistent with the clinical diagnosis of familial essential myoclonus and epilepsy/benign adult familial myoclonic epilepsy.     

A case report of pseudohypoparathyroidism (Drezner's type I) associated with probable Bartter's syndrome

A 24-yr-old male patient that suffered from chronic tetany since school age. At the age of 20 tetanic convulsions occurred due to hypocalcemia. His mother also had chronic tetany due to pseudohypoparathyroidism. At the age of 24, hypocalcemia caused by pseudohypoparathyroidism was noted. Hypopotassemia persisted even when the hypocalcemia improved with the administration of 1 alpha-hydroxycholecalciferol and calcium lactate. Other findings were normal blood pressure, high levels of plasma renin activity and serum aldosterone, a fall in blood pressure after angiotensin II antagonist infusion, blunted pressor response to angiotensin II infusion and hyperplasia of the juxtaglomerular cells. These results were compatible with Bartter's syndrome. Plasma prostaglandins E2 and F2 alpha in standing position were suppressed after indomethacin administration. To our knowledge this is thought to be the first report of a case of pseudohypoparathyroidism associated with probable Bartter's syndrome.     

Variation of acid-base balance, glycemia, electrolytes and ETCO2 after fast i.v. infusion of 5% fructose and/or glucose

Intraoperative fluid infusion has precise goals and the rapid infusion of some solutions can induce important modifications of homeostatic parameters, which must be known. Rapid infusion of fructose and glucose 5% solutions has been carried out and modifications of acid-base balance, glycemia, serum electrolytes, ETCO2 have been registered. The administration of fructose 5% determines a mixed acidosis while the administration of glucose does not cause this phenomenon; the administration of both carbohydrates reduces serum chloride and sodium, while serum potassium rises only after fructose infusion and glycemia only after glucose infusion. All the variations described reach significant levels.     

Transient diabetes mellitus in a neonate. Evaluation of insulin, glucagon, and growth hormone secretion and management with a continuous low-dose insulin infusion

This neonate developed marked hyperglycemia four days after birth and required insulin therapy for eight weeks. During the acute phase of the disease, immunoreactive insulin was undetectable in portal venous serum. Neither tolbutamide nor theophylline administration significantly triggered insulin secretion. Somatostatin infusion inhibited growth hormone release but had no effect on plasma glucagon or blood glucose concentrations. At 2 1/2 months, two weeks after insulin withdrawal, the infant was still intolerant to an oral glucose load, insulin response was markedly delayed, and growth hormone secretion was paradoxical. At five months, the insulin, glucagon, and growth hormone responses to glucose and to somatostatin were normalized. Thus, in this patient, insulin secretion was transiently deficient. Peculiarities of glucagon and growth hormone secretion were also present but are more characteristic of this age group than of diabetes. The hyperglycemic state was managed by intraportal infusion of 0.1 to 0.2 IU regular insulin/kg/hour. This mode of insulin administration proved efficient, secure, and easy to manage.     

Slow-release lanreotide treatment in endocrine gastrointestinal tumors

OBJECTIVES: Lanreotide is a somatostatin analogue whose activity persists for 10-14 days. In this study, we treated a group of patients with gastrointestinal endocrine tumors with lanreotide to assess its therapeutic efficacy and tolerability. METHODS: Eighteen patients, 12 male and six female, mean age 58 yr (range, 25-80 yr) were studied. Ten had carcinoid tumors, five had nonfunctioning endocrine tumors, two had glucagonomas, and the remaining one had a gastrinoma. All patients had somatostatin receptors, demonstrated by octreoscan scintigraphy. Lanreotide was administered intramuscularly at a dose of 30 mg every 10 days, for a mean of 12 months (range, 5-18 months). Fifteen of the 18 patients had been previously treated with octreotide. RESULTS: In patients with carcinoid tumors, lanreotide markedly reduced daily bowel movements and flushing episodes. A reduction was also observed in urinary serotonin and urinary 5-hydroxyindoleacetic acid, although it was not statistically significant. A marked reduction in symptoms, and in plasma glucagon and serum gastrin levels, was also observed in patients with glucagonoma and gastrinoma. In the five patients with nonfunctioning endocrine tumors, as in all the other 13 patients, no significant effects were noted in the size of the tumor. The administration of lanreotide did not cause side effects, apart from transient abdominal pain and pain at the injection site in two patients. Only in the patient with gastrinoma was lanreotide suspended, because of the appearance of attacks of marked hypoglycemia. In the 15 patients previously treated with octreotide, no differences in the effects were noted with lanreotide. CONCLUSIONS: Lanreotide has a satisfactory therapeutic efficacy and tolerability in the treatment of gastrointestinal endocrine tumors; its effects are similar to those of octreotide. However, unlike octreotide, it can be administered once every 10-14 days, instead of 2 or 3 times daily and for this reason, it is preferable in clinical practice.     

Specific amino acid substitutions in the proline-rich motif of the Rhizobium meliloti ExoP protein result in enhanced production of low-molecular-weight succinoglycan at the expense of high-molecular-weight succinoglycan

A case of a 35-year-old woman with abdominal migraine is presented. For four years she had been suffering from abdominal pains occurring only at night, always between 1 and 3 a.m. The patient always woke with abdominal pains and nausea. Each time she had diarrhoea and vomited and found that this gave her relief from the pain. Sometimes she lost consciousness for 1-2 minutes. After the attack she felt very weak, her legs and feet became numb and she found it difficult to get to sleep. The attacks and the fainting fits increased in frequency until she had several a month. Numerous gastrological examinations did not reveal any deviations from the normal. At the anti- epileptic consulting unit, abdominal epilepsy was excluded (no abnormalities were found in the eeg and CT examinations of the cranium). As a child she had paroxysmal abdominal pains. When the patient was 10 years old, she had an attack lasting one week and though the pain was severe on the left side, appendectomy was performed. Her mother suffers from migraine with very severe head pains. The patient was referred to our consulting unit where she was treated with Pizotifen in doses of 0.5 mg morning and noon and 1 mg in the evening for three months during which time she had no attacks. A few weeks after discontinuing this treatment, the nocturnal attacks again occurred though the pains were not so severe. She was then prescribed Nitrendipine, 5 mg nightly, and the attacks ceased. However, the patient said that she had felt better when taking Pizotifen.     

Comparison of flutamide and spironolactone in the treatment of hirsutism: a randomized controlled trial

OBJECTIVE: To compare the clinical efficacy and safety of the pure antiandrogen flutamide and the steroidal derivative spironolactone in the treatment of hirsutism in women. DESIGN: Fifty-three premenopausal women suffering from moderate to severe hirsutism were randomized into two groups and received either flutamide or spironolactone in association with a triphasic oral contraceptive (OC) pill. Hirsutism, acne, seborrhea, alopecia, and side effects were monitored monthly for a treatment period of 9 months and a follow-up after treatment period of 6 months. Blood samples were taken at each visit for assessment of endocrine, biochemical, and hematologic parameters. RESULTS: After only 6 months of therapy, flutamide caused a maximal reduction in the hirsutism score to a value within almost normal range; during the same period, spironolactone caused only a 30% reduction of the hirsutism score. Whereas flutamide caused a dramatic (80%) decrease in total acne, seborrhea, and hair loss score after only 3 months of therapy, spironolactone caused only a 50% reduction in acne and seborrhea, with no significant effect on the hair loss score. Four patients in the spironolactone group but only one in the flutamide group stopped the medication because of adverse side effects. CONCLUSION: The present data obtained in a randomized prospective study clearly demonstrate that the pure antiandrogen flutamide is superior to spironolactone in the treatment of female hirsutism and its related androgen-dependent symptoms and signs in women.     

Asymmetric extractions used in the treatment of patients with asymmetries

Properties of a new anti-D immunoglobulin were assessed in Rh(D) negative healthy male adults. Six volunteers received intravenous, and five volunteers intramuscular injections of 200 micrograms anti-D, 48 hours after pre-treatment with 5 mL of Rh(D) positive erythrocytes. Immediately after intravenous administration of anti-D, a rapid decrease of the Rh(D) positive erythroyctes was noted. After intramuscular injection of anti-D, there was a lag phase of 6 hours until the erythrocytes decreased, and the elimination rate was slower. Twenty-four hours after injection of anti-D, the Rh(D) positive erythrocytes were at the detection limit or no longer detectable in all volunteers. After intravenous administration, anti-D serum levels decreased from 45 ng/mL at 2 hours to 29 ng/mL at 24 hours, whereas after intramuscular administration, anti-D became detectable at 4 hours and increased to 11 ng/mL at 24 hours. During subsequent months, anti-D serum levels decreased at similar rates in both groups. After six months, anti-D was not detectable in any of the volunteers. Thus, the new anti-D immunoglobulin induced elimination of the Rh(D) positive erythrocytes and suggested that Rh(D) immunization of the volunteers was prevented.     

Enhancement of K transfer to intracellular fluid by cerebral artery K-loading

Intact, UL, and pancreatectomized UL dogs were loaded with K by administration of 2 mEq KCl/kg/hr through a cerebral (vertebral) artery. K transfer to ICF was calculated and compared with that computed in control animals K-loaded through a PV. At the same rate of K administration, the change of route from PV to VA markedly increased transmembrane K transfer, even in the absence of insulin; the increase seems a specific response to K. KCl administration via a VA, with a resulting abrupt rise in the serum K concentration of cerebral blood, activates a K transfer mechanism (possibly by stimulation of a K-sensitive CNS receptor) that is strikingly unlike the insulin-mediated one stimulated by intravenous KCl. Hyperkalemic dogs may have more than one mechanism for maintaining K homeostasis, depending on the rate at which K enters the circulation.     

Multiple arterial stenoses of unknown aetiology in the coronary, cerebral, and brachial arteries

A 13 year old girl with multiple arterial stenoses of unknown aetiology is described. At the age of seven months she was noted to have cardiomegaly and diminished left ventricular ejection fraction with no cardiac anomaly. Cardiac function gradually improved and her condition remained satisfactory until she was 11 years old when multiple lesions in the coronary, cerebral, and left brachial arteries were diagnosed. Histological examination of an endomyocardial biopsy specimen from the right ventricle showed hypertrophic muscles surrounded by abundant fibrous tissue. Percutaneous transluminal angioplasty of the right coronary stenoses led to complete occlusion.     

Serum carcinoembryonic antigen as an adjunct to preoperative staging of lung cancer

AIMS AND BACKGROUND: The authors report the case of a 23-year-old woman affected by intra-abdominal desmoplastic small round cell tumor (DSRCT) who obtained a complete response to multiagent chemotherapy. DSRCT is a rare, highly aggressive neoplasm generally arising in young people and seldom in females (about 20 cases described in the literature). METHODS: The patient underwent surgical resection of a large 15 x 15 cm mass located in the right lower abdominal quadrant, but after only 2 months later, two liver metastasis were noted. Thus, she was subjected to an aggressive antineoplastic treatment consisting of three groups of alternating non-cross resistant multiagent regimens administered every 21 days (cis-platin-etoposide-adriamycin-bleomicin; gemcitabine-ifosfamide-dacarbazine; methotrexate-5-fluorouracil-folinic acid) for a total of 9 administrations. RESULTS: After one cycle of treatment including the administration of all the three alternated schemes of chemotherapy, a complete disappearance of liver disease was noted. The treatment was relatively well-tolerated and the toxicity was acceptable. At present, after 15 months from diagnosis and 12 months after starting chemotherapy, the patient is disease-free and in good health. CONCLUSIONS: Even though this study regards only a single patient, it is noteworthy because of the rarity of this neoplasm and because of the infrequent complete responses reported in the literature. The efficacy and manageability of the treatment, suggests that both the timing and schedule used could constitute an important therapeutical option for this aggressive and poorly chemo-responsive tumor.     

Enhanced Na+/H+ exchange in Cushing's syndrome reflects functional hypermineralocorticoidism

BACKGROUND: Patients with Cushing's syndrome exhibit a bimodal distribution of maximal rates of the erythrocyte amiloride-sensitive Na+/H+ exchange (NHE). Enhanced erythrocyte NHE has recently been found in patients with primary aldosteronism. OBJECTIVE: To test the hypothesis that occult hypermineralocorticoidism in a subset of patients with Cushing's syndrome is responsible for the greater than normal NHE. METHODS: NHE was measured as maximal initial rate (Vmax) of amiloride-inhibited efflux of H+ into an alkaline Na+-containing medium, for 47 patients with hypercortisolism (20 with pituitary adenomas, 18 with adrenal adenomas, and nine with ectopic production of adrenocorticotropin). Clinical appearance, blood pressure levels, plasma aldosterone and deoxycorticosterone levels, serum electrolytes, and urine (tetrahydrocortisol plus 5-alpha-tetrahydrocortisol) : tetrahydrocortisone ratios were assessed for all patients. Twenty patients (10 with greater than normal NHE and 10 with low-to-normal NHE) were randomly selected from 47 patients with hypercortisolism, and treated with 200 mg/day spironolactone for 7 days. NHE in these patients was assessed before starting the treatment and 2 days after its cessation. RESULTS: Greater than normal NHE (Vmax) was associated with peripheral edema, high diastolic blood pressure, hypokalemia, and high urine (tetrahydrocortisol plus 5-alpha-tetrahydrocortisol) : tetrahydrocortisone ratios. The enhanced NHE was rapidly normalized by treatment with spironolactone. CONCLUSION: Erythrocyte NHE in patients with hypercortisolism and functional hypermineralocorticoidism is greater than normal due to incomplete peripheral conversion of cortisol (which binds to mineralocorticoid receptors) into metabolically inactive cortisone.     

Coarctation of the abdominal aorta

HISTORY AND FINDINGS: When a 27-year-old woman went to her general practitioner with symptoms of acute gastroenteritis he noted a paraumbilical murmur on auscultation. There were no symptoms of intermittent claudication or abdominal angina. All peripheral pulses were easily palpable and bilaterally equal, and there were no vascular murmurs. Physical examination and blood pressure (140/70 mm Hg bilaterally) were normal. INVESTIGATIONS: Biochemical tests gave no indication of inflammatory disease. Oscillography showed a brief decrease in amplitude after muscular exertion, predominantly of the thigh. Posterior tibial systolic pressure was 20 mm Hg lower than radial pressure on the right, 25 mm Hg on the left. Colour Doppler sonography demonstrated elongated and looping coarctation of the abdominal aorta. TREATMENT AND COURSE: As the patient had no symptoms only regular follow-up was indicated. There have been no symptoms for 27 months and no progression of the coarctation. CONCLUSION: In young patients with the described symptoms abdominal coarctation should be included in the differential diagnosis.     

Multiple birth defects in a newborn exposed to Mycoplasma pneumoniae in utero

A newborn baby girl with progressive hydrocephalus and congenital defects of the skin and eyes was born to a mother who experienced bilateral bronchopneumonia in her first trimester. At the time of her infection, the mother's serum cold agglutinin titer was 1:128 and at delivery the mother's and baby's serum samples had complement-fixation titers to Mycoplasma pneumoniae of 1:1,024 and 1:256, respectively. At 1 week of age the baby's serum IgM value was 44 mg/100 ml (98% of cord IgM values in normal newborns range from 0 to 20 mg/100 ml). The baby died of progressive hydrocephalus, which may have had an inflammatory basis in view of the cerebrospinal fluid (CSF) protein level of 192 mg/100 ml. We realize that the significance of this association is questionable, but we believe that it is worthwhile to call the coincidence of events to the attention of others.     

Severe hypertriglyceridemia caused by tamoxifen-treatment after breast cancer surgery

Tamoxifen, a nonsteroidal estrogen antagonist, has been widely used in a hormonal treatment for breast cancer. The side effects of tamoxifen are generally recognized to be mild. However, we experienced three cases of severe hypertriglyceridemia and/or hyperglycemia induced by tamoxifen. For normalization of their hypertriglyceridemia we need to stop giving tamoxifen. In one of three cases we analyzed her lipoprotein profile in detail with lipoprotein lipase activities and apolipoprotein E phenotype. The case was a 49 year-old woman. After 15 months of tamoxifen administration, she was diagnosed as severe hypertriglyceridemia. Consecutively, severe hyperglycemia was occurred to need insulin therapy. After tamoxifen withdrawal, her triglyceride and glucose levels improved. Her lipolytic enzyme was reduced during tamoxifen treatment. Apolipoprotein E phenotype was uncommon E4/2. Although hypertriglyceridemia was not considered to be a risk factor for coronary heart disease, a marked hypertriglyceridemia might occasionally produce severe lethal pancreatitis. We recommend that a periodic plasma lipid analysis is needed for patients treated with tamoxifen, especially for diabetic and hypertriglyceridemic patients, to avoid such complications.     

Successful right trisegmentectomy for ruptured hepatoblastoma with preoperative transcatheter arterial embolization

This is the first report of the successful use of percutaneous transcatheter arterial embolization (TAE) in controlling hemorrhage from ruptured hepatoblastoma, allowing early major hepatic resection to be performed safely in a young infant. A 6-month-old girl presented with a huge abdominal mass and was found to have a hepatoblastoma that measured 15 x 10 x 12 cm and arose from the right lobe of her liver on computed tomography (CT) scan examination. The tumor spontaneously ruptured, and she went into shock. TAE with gelfoam cube particles successfully arrested the tumor bleeding and allowed stabilization of her blood pressure with blood transfusion. Right trisegmentectomy was performed 12 hours later. The postoperative course was uneventful. With three courses of cisplatin, vincristine, and 5-fluorouracil after the hepatectomy, the serum alpha-fetoprotein level returned to normal, and the patient has remained well 4 months postoperation.     

Effect of spirolactones on the urinary excretion of individual 17-oxosteroids and of pregnanediol in man (author's transl)

The effect of spirolactones on the urinary excretion of individual 17-oxosteroids and of pregnanediol in man was investigated under various conditions. After purification by thin-layer chromatography, the 17-oxosteroids and pregnanediol were determined by gas chromatography. Eleven male subjects (age 21-34 years) received a daily dose of 200 mg spironolactone (Aldactone) orally on seven consecutive days. Five female subjects (age 20-35 years) and ten pregnant women (age 20-35 years; 28th.-39th. week of gestation) were given a daily intravenous injection of 600 mg potassium canrenoate (Aldactone pro injectione) on three consecutive days. In the male subjects, the excretion of individual 17-oxosteroids and of pregnanediol was significantly reduced during administration of spironolactone. In the nonpregnant female subjects, the excretion of etiocholanolone and dehydroepiandrosterone was diminished, whereas in the pregnant women, the excretion of pregnanediol and dehydroepiandrosterone was decreased during treatment with potassium canrenoate. These results suggest that the reduced urinary excretion of steroids may be due to an inhibition of steroid metabolising enzymes by spirolactones. It seems likely that spirolactones affect the enzymatic conversion fo cholesterol to pregnenolone.