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Z Blumenfeld

Publications and source records attributed to Z Blumenfeld.

At least 73 records · Page 4Linked to original sources

[Diagnosis of late onset congenital adrenal hyperplasia].

Late onset congenital adrenal hyperplasia (LOCAH) is the most common autosomal recessive disorder in the human. The incidence among women suffering from hirsutism and menstrual disorders varies from 1-35%. 21-hydroxylase deficiency is the most common variant of LOCAH. The partial enzymatic defect can be diagnosed only by ACTH stimulation tests, and not from clinical features or basal hormone levels. A variety of methods have been proposed to detect those with deficient 21-hydroxylase activity, all based on measuring steroid precursors above the enzymatic block, before and after ACTH stimulation. In this review we summarize the different methods of diagnosing 21-OH-LOCAH, and compare the incidence of this disturbance in 64 patients with hirsutism and acne, as calculated by the different methods. These 64 young women were examined in our outpatient clinic in the past 5 years, and have undergone ACTH stimulation tests. While an incidence of 5-6% of homozygote 21-OH-LOCAH was found, the incidence of the calculated heterozygote 21-OH-LOCAH varied between 16-48%. The difficulty in diagnosing heterozygote 21-OH-LOCAH is discussed.

Acne Vulgaris↗

Prenatal diagnosis of gall bladder anomalies--report of 17 cases.

We describe here 17 cases of fetal gall bladder anomalies, detected as early as the 14th week of gestation, out of 10,016 fetal systemic examinations performed by us in the last 6 years (0.15 per cent). In seven cases, agenesis of the fetal gall bladder was detected. The diagnosis was confirmed by post-abortal examination in five cases and in two post-partum. In six other cases, a left-sided gall bladder and in one case, a 'floating' gall bladder were detected at 15 weeks' gestation. In two cases, a septated or bilobed gall bladder was visualized. None of these 15 cases was dyskaryotic, but in five cases, two with agenesis and three left-sided gall bladders were associated with other fetal malformations. In two other cases, the gall bladder appeared dysmorphic on sonographic examination and in both of them intrauterine growth retardation and other anomalies were detected. Trisomy 18 was diagnosed by amniocentesis in one of them. According to our experience, failure to visualize the fetal gall bladder by the 15th gestational week is diagnostic of its absence and should raise the differential diagnosis between gall bladder atresia, which has a good prognosis, and external biliary atresia, which has a poor prognosis. Further experience is needed to characterize the various gall bladder malformations and their prognosis.

Female↗

The early diagnosis of neural tube defects.

The sonographic diagnosis of fetal neural tube defects (NTDs) has been enhanced by the recognition of associated brain and skull anomalies. Previous reports have found these anomalies to be accurate in predicting spina bifida after 16 weeks' gestation, and an inverse correlation was suggested between the presence of these sonographic markers and gestational age. Therefore, we assumed that early second-trimester sonography would be at least as accurate as that performed after 16 weeks' gestation. To examine this hypothesis, we looked for the presence of these cranial sonographic markers suggestive of open NTDs in 8011 low-risk cases, using transvaginal sonography (TVS), between the 12th and 17th week of gestation (menstrual age). Fetal NTDs were identified in ten cases (1.25/1000). The NTDs were cervico-cranial in three, lumbo-sacral in six, and thoracal in one of the ten cases. None of the seven cases examined was dyskaryotic. Cerebellar dysmorphism, 'banana' sign, cerebellar absence, and hypoplasia were detected in all the low NTDs, usually before the detection of the spinal lesion. All the sonographically diagnosed malformations were confirmed by post-abortal examination except in one case, where the patient decided to continue the pregnancy and refused follow-up. We therefore conclude that transvaginal sonographic examination of the fetal skull before the 17th week of gestation is an accurate method for the detection of low NTDs.

Abortion, Therapeutic↗

Transvaginal ultrasonographic measurements of the fetal adrenal glands at 12 to 17 weeks of gestation.

OBJECTIVE: Our purpose was to compile normative data of fetal adrenal gland measurements between 12 and 17 weeks' gestation with transvaginal ultrasonography. STUDY DESIGN: Transvaginal ultrasonographic measurements of the fetal adrenal length and adrenal-to-kidney length ratio calculations were performed on 100 normal fetuses at 12 to 17 weeks' gestation. The diameters of the fetal adrenals and kidneys on each side were measured, and nomograms were generated. These parameters were also measured in two fetuses whose mothers were treated for congenital adrenal hyperplasia. RESULTS: The measurements of the maximal longitudinal axis of the right and left fetal adrenal glands showed a linear increase with fetal age between 12 and 17 weeks of gestation. The adrenal-to-kidney length ratio decreased linearly between these gestational ages. In maternal congenital adrenal hyperplasia treated with glucocorticosteroids the fetal adrenals were small. CONCLUSION: Fetal adrenal gland measurements in the early second trimester show a linear progressive growth between 12 and 17 weeks' gestation.

Adrenal Glands↗

Pregnancy after liver transplantation.

Two patients who became pregnant after liver transplantation for end-stage liver disease were carefully monitored using pulsed Doppler waveform measurements. One patient with Wilson's disease, on triple immunosuppressive therapy including prednisone, azathioprine and low-dose cyclosporin A, delivered a healthy girl weighing 2650 g after 38 weeks' gestation. The other patient, with HBV-related postnecrotic cirrhosis, became pregnant less than 3 months postoperatively, under triple therapy, after being amenorrheic for 6 years. Episodes of elevation in liver enzymes were noted, and severe osteoporosis with low back pain developed. A healthy boy weighing 2975 g was born at 35 weeks' gestation. Our cases add to previous reports of successful pregnancies under cyclosporin A immunosuppression.

Adult↗

Use of a sealed minichamber for direct observation and evaluation of the in vitro effect of cigarette smoke on sperm motility.

OBJECTIVE: To determine the in vitro effect of cigarette smoke on sperm motility and survival in an attempt to find a possible association with clinical studies that had pointed to the existence of such an effect in vivo. DESIGN: Laboratory experiments in which the effect of cigarette smoke on human sperm placed in a sealed minichamber was directly observed and determined by motion analysis. PATIENTS: High-quality fresh semen specimens were obtained from healthy donors and used for the experimental studies. INTERVENTIONS: Various doses of filtered and nonfiltered cigarette smoke, collected by an improvised manual smoking machine, were streamed at a rate of 2 mL/s into sealed chambers containing samples of washed spermatozoa. Evaluation of the changes in sperm motility was performed in real time by direct microscopical observation and repeated determinations by the multiple exposure photography technique until their complete immobilization. RESULTS: Streaming of 100 mL of cigarette smoke induced a dramatic drop in sperm motility, which caused sperm immobilization in about 15 minutes. This effect showed a clear dose-response relationship either with the amounts streamed or with the time during which sperm were exposed to cigarette smoke. The harmful effect was almost the same whether sperm were exposed to filtered or nonfiltered cigarette smoke. The role of carbon monoxide and hydrogen cyanide on these findings was studied separately, and it was shown that the inhibitory effect was not due to the presence of these two important components of cigarette smoke. CONCLUSIONS: The clear evidence of the in vitro harmful effect of crude cigarette smoke on sperm motility points to the possibility that in heavy smokers certain toxic agents may reach mature spermatozoa or their precursors via the blood stream and induce their harmful effect on sperm motility in vivo.

Carbon Monoxide↗

Premature ovarian failure--the prognostic application of autoimmunity on conception after ovulation induction.

OBJECTIVE: To assess whether the presence of autoimmune activity in patients with premature ovarian failure (POF) can predict the response to ovulation induction and conception. DESIGN: Assessment of autoimmune activity in patients with POF, correlating the response to ovulation induction with this autoreactivity. SETTING: Tertiary care academic center. PATIENTS: Forty women with POF, 15 of them treated by ovulation induction because of infertility. INTERVENTIONS: All patients were tested for the presence of autoimmune activity, antibodies against various tissues, and 15 of them were treated with combinations of hMG/hCG, glucocorticosteroids as immunosuppressant, and some of them also with a long-acting GnRH agonist. Those patients not interested in infertility were put on hormone replacement therapy (HRT). MAIN OUTCOME MEASURES: Serum E2 and P were measured during ovulation induction as well as follicular diameter monitoring by transvaginal sonography. Achievement of gestations and their outcome were monitored in the group in which ovulation induction was accomplished. RESULTS: Antibodies against thyroglobulin, nuclear antigens, heart, tissue gluten, or increased levels of immunoglobulin (Ig)M, or decreased levels of complement C3 and C4 were significantly different in the patients with POF than in the control population. Autoreactivity of at least one class of the tested antibodies was found in 31 of 40 patients (77%). In 15 patients with autoimmune activity who have undergone ovulation induction using hMG/hCG, 14 pregnancies were achieved in 8 patients. Two of the pregnancies were spontaneous, and 12 were generated by hMG/hCG and fluocortolone, with or without pretreatment with GnRH-a. Twelve healthy babies were generated by 10 gestations, 3 ended in spontaneous abortions (23%), and 1 is ongoing. All the nonspontaneous pregnancies were achieved in the first three cycles of ovulation induction. CONCLUSIONS: Patients with POF and autoimmune activity, suggesting an autoimmune etiology to the ovarian failure, may respond to ovulation induction and have a conception rate of approximately 40% in three cycles. Those who do not conceive in three treatment cycles have a very low probability to conceive; therefore, further attempts of ovulation induction should be discouraged. However, some patients may spontaneously conceive in association with HRT.

Adult↗

Investigation in real time of the effect of gravitation on human spermatozoa and their tendency to swim-up and swim-down.

To investigate in real time if and how natural gravity affects rates of swim-up and swim-down of human spermatozoa, samples of motile or immobilized spermatozoa in a sealed mini-chamber were placed vertically on a 90 degrees tilted microscope. The mode of their sedimentation, as well as the difference in the rate of their swimming up and down, were observed directly over 30 min and analysed from photomicrographs. Under the influence of natural gravity force, most immobilized spermatozoa turned their heads down in about 5 min and then sank slowly at an average speed of 0.2 mu/s. The number of motile spermatozoa that swam down was 5-6 times more than those swimming up. It can be implied that in spite of the mild force exerted by 1 g on suspended spermatozoa in comparison to the high g force obtained by centrifugation, the overall effect of gravity on the rate of swimming up or down becomes dominant. Gravity causes the sperm heads to turn downward after which the oriented spermatozoa continue to move down by their own tail movements, causing accumulation of motile spermatozoa at the bottom. This may explain why in some recent studies swim-down was superior to the swim-up procedure during sperm separation by self-migration.

Gravitation↗

Growth hormone-binding protein (GH-BP) levels in follicular fluid from human preovulatory follicles: correlation with serum GH-BP levels.

Serum GH-binding protein (GH-BP), which is identical with the extracellular domain of the GH-receptor, has important implications for the distribution and physiological activity of GH and may enable evaluation of GH-receptor function. Recent studies suggest that GH plays an important role in the modulation of ovarian function and GH-receptors/BPs are found in the female reproductive system. The purpose of the present study was to investigate the presence of GH-BP in human follicular fluid (FF) and compare the levels of FF GH-BP with those detectable in serum, in 46 women undergoing in vitro fertilization. Levels of GH-BP were determined by incubation of [125I]hGH with 50 microL FF or serum, in the absence or presence of excess hGH and specific binding was expressed as a percentage of the total counts per min incubated. The mean GH-BP level in patient FF was 12.39 +/- 0.63% (mean +/- SE) and this correlated significantly with serum GH-BP levels (r = 0.82; P < 0.001). The binding of hGH to FF was dose dependent, highly specific, and of high affinity and low capacity. The affinity constants (Ka) obtained by Scatchard analysis for hGH binding to patient's FFs and sera were not significantly different. Furthermore, we have analyzed the sodium dodecyl sulfate gel electrophoretic pattern of GH-BP in FF and serum by both the ligand-blot technique and after cross-linking with [125I]hGH. Our results show that there is close similarity between serum and FF GH-BPs. Significantly lower FF GH-BP levels were measured in patients older than 36 yr compared to younger women (P < 0.05), whereas increased values were obtained both in patients with elevated E2 concentrations in serum (> 7000 pmol/L) and in FF (> 2200 nmol/L), (P < 0.02 and P < 0.05, respectively). This first demonstration of GH-BP in FF is expected to increase our understanding of the possible direct effect of GH on ovarian steroidogenesis, and suggests a possible regulatory role for GH-BP in folliculogenesis.

Adult↗

Differential diagnosis of the nonvisualized fetal urinary bladder by transvaginal sonography in the early second trimester.

OBJECTIVE: To describe the pathologic situations associated with the persistently nonvisualized fetal urinary bladder in the early second trimester. METHODS: We analyzed retrospectively 13,458 ultrasound examinations performed between 12-16 weeks' gestation in search of fetal malformations. Seventy percent of the patients were at low risk and 30% comprised a high-risk group for the detection of fetal anomalies. RESULTS: Seven cases of persistent nonvisualization of the fetal urinary bladder were detected by transvaginal sonography among 13,458 fetuses. In one case bladder exstrophy, and in another bilateral multicystic dysplastic kidneys were diagnosed by postabortal examination. Five cases were associated with bilateral renal agenesis. CONCLUSION: When one fails persistently to demonstrate the fetal urinary bladder during an examination lasting 30 minutes or longer, urinary tract pathology should be highly suspected. Failure to visualize the bladder may be associated with bladder exstrophy, bilateral renal agenesis, or late onset of bilateral multicystic dysplastic kidneys.

Adult↗

The difference between septated and nonseptated nuchal cystic hygroma in the early second trimester.

OBJECTIVE: To compare nonseptated and septated cystic hygromas in terms of morphologic appearance and prognosis. METHODS: During a 5-year period, 125 cases of nonseptated cystic hygroma were detected by transvaginal sonography among 7582 sonographic fetal scans (1.6%) in the first and early second trimesters. Twenty-five cases of septated cystic hygroma were detected in the same population. Fetal karyotype abnormalities; sonographic, morphologic, and histologic appearance; and pregnancy outcome were compared between the groups. RESULTS: Whereas 98% of the nonseptated cystic hygromas were transient, only 44% of the 25 septated cystic hygromas were transient. Six of the 106 cases of nonseptated cystic hygroma that underwent karyotyping were dyskaryotic (5.7%), compared with a 72% (18 of 25) aneuploidy rate in the septated cystic hygromas. Only two cases of hydrops fetalis (1.7%) occurred among the nonseptated cystic hygromas, versus 40% (ten of 25) in the septated cystic hygromas. Fifteen percent of the nonseptated cystic hygromas had associated anomalies (17 of 115) versus 52% (13 of 25) in the septated counterpart. As compared with the septated group, the nonseptated cystic hygromas had a different sonographic, morphologic, and histologic appearance. The live-birth rate was 94% (108 of 115) in the nonseptated cystic hygromas, versus only 12% in the septated group. CONCLUSIONS: This study confirms our previous suggestion that nonseptated cystic hygromas differ from septated lesions, not only in location and morphologic appearance, but also in prognosis.

Adult↗

Clues and pitfalls in the early prenatal diagnosis of 'late onset' infantile polycystic kidney.

Infantile polycystic kidney disease (IPKD) is an autosomal recessive inherited disorder, IPKD has been previously diagnosed by us as early as the 14th week of gestation. 'Late onset' (third trimester) IPKD has been previously described by several authors. We present here a case of intrauterine detection of 'late onset' IPKD, suggesting that elongated hyperechogenic kidneys (with normal transverse and anteroposterior diameters) should be considered as an early sign of 'late onset' presenting IPKD.

Adult↗

Transvaginal sonography-detection of findings suggestive of fetal chromosomal anomalies in the first and early second trimesters.

Over a 4-year period, 14 dyskaryotic fetuses were diagnosed by amniocentesis, performed after early detection of malformations using transvaginal sonography (TVS). These 14 dyskaryotic fetuses were detected out of 4878 sonographic screenings performed by TVS between 9 and 16 weeks' gestation. Twenty-eight per cent of the referrals were at high risk and 72 per cent were at low risk for fetal malformations. Two hundred and twenty-nine fetuses (4.7 per cent) of the screened population had 265 anomalies, 39 per cent of them being transient. In 7 of the 14 dyskaryotic fetuses (50 per cent), the sonographically detected anomalies were transient, being undetected by follow-up sonographic screenings at later gestational ages (greater than or equal to 18 weeks). Postponing the first sonographic scan aimed at malformation detection to a later gestational age may lead to transient anomalies and their associated dyskaryosis being missed.

Age Factors↗

Early second-trimester sonographic appearance of occipital haemangioma simulating encephalocele.

Encephalocele is the most common cause of occipital midline extracranial mass associated with hydrocephalus. A case is presented where an occipital extracranial mass associated with hydrocephalus which was detected on second-trimester ultrasound examination turned out to be a haemangioma, a relatively benign lesion. We suggest that haemangioma should be considered in the differential diagnosis of extracranial masses detected prenatally.

Abortion, Therapeutic↗

Gonadotropin-releasing hormone analogues for dysfunctional bleeding in women after liver transplantation: a new application.

A new clinical indication for GnRH agonists treatment seems to exist in addition to the many indications known so far (4, 5). These previously mentioned indications include: uterine fibroids, precocious puberty, endometriosis, polycystic ovarian disease, ovulation induction for assisted fertilization (in vitro or in vivo), treatment of various tumors such as prostatic, breast, pancreatic, ovarian, and pituitary tumors, and various catamenial disorders such as premenstrual syndrome and porphyria. Women after liver transplantation, who are in the reproductive age and who experience menometrorrhagia or dysfunctional bleeding, seem to be a new indication for application of these useful GnRH analogues. This application may prevent the potential hepatotoxicity or cholestasis of E-P combinations usually used for treatment of dysfunctional bleeding. The recommended treatment is of relatively short duration (3 to 6 months), within the first 2 years of the transplantation, after which a more prolonged treatment should be considered. This treatment may also spare the need for contraception during its administration because both oral contraceptives and intrauterine device are relatively contraindicated in these patients (the latter because of the immunocompromised state). We believe this application to become more common because of increasing numbers of liver transplantations and improved survival rate. It may be looked at as a "new application of a relatively new drug for a new and enlarging situation."

Adult↗

Early pregnancy wastage: the role of repetitive human chorionic gonadotropin supplementation during the first 8 weeks of gestation.

OBJECTIVE: To determine if repetitive administration of hCG causes decreased pregnancy wastage rates in patients who are at a high risk of luteal inadequacy. DESIGN: Ovulation induction using human menopausal gonadotropin (hMG)/human chorionic gonadotropin (hCG) or clomiphene citrate (CC) is associated with luteal phase defects that may cause increased pregnancy wastage. An increased risk of abortion exists also in pregnancies in patients with previous repeated miscarriage, women older than 37 years, and various causes of infertility such as hyperprolactinemia. Because the presumed common denominator to the increased rate of pregnancy wastage in all these cases is luteal dysfunction, repetitive hCG administration, 2,500 U two times weekly, was carried out between the 4th and 8th week of gestation in 249 cases of ovulation induction and/or previous abortions, whereas 198 gestations served as controls (no hCG administration). RESULTS: In the hCG treatment group, 43 ended in miscarriage (17.3%) versus 97 abortions in the control group (49%, P less than 0.01). In 160 cases of hMG/hCG generated gestations, 94 received hCG and 66 did not. The pregnancy wastage rates were 21.3% and 42.4%, respectively (P less than 0.05). In 144 cases of CC/hCG-induced pregnancies, 95 received hCG and 49 served as controls. The respective abortion rates were 15.8% and 44.8% (P less than 0.01). The remaining 143 spontaneous conceptions occurred in infertile patients with previous repeated abortions. In 60 of these conceptions, hCG was administered during the first 4 weeks of gestation and 83 cases served as control. The pregnancy wastage rates were 13.3% versus 56.6%, respectively (P less than 0.001). CONCLUSION: Repetitive administration of hCG during the early gestation in cases that are at high risk of luteal inadequacy may significantly decrease the pregnancy wastage rate.

Chorionic Gonadotropin↗

Spontaneous fetal reduction in multiple gestations assessed by transvaginal ultrasound.

OBJECTIVE: To assess the occurrence of disappearance of one or more of the fetuses in pregnancies which start as multiple gestation. DESIGN: Observational study. SETTING: Infertility section, Rambam Hospital, Haifa. SUBJECTS: 88 women with multiple gestations, established after ovulation induction (54 twin, 26 triplet, five quadruplet, and three quintuplet) and diagnosed by transvaginal ultrasound at 5-6 weeks, in all of whom absorption of at least one gestation sac was detected at follow-up ultrasound scan. INTERVENTIONS: Follow-up by serial transvaginal and later abdominal ultrasound scan throughout pregnancy. RESULTS: Of the 54 twin gestations, 51 ended in the birth of a singleton and three in miscarriage. Of the 26 pregnancies starting as triplets, 12 ended in singleton births, 12 in twins and two miscarried. The five quadruplet gestations resulted in one singleton birth, one set of twins, two triplets, and one ended in late miscarriage. Of the three quintuplet pregnancies, two resulted in the birth of triplets, one of them after spontaneous, the other after iatrogenic fetal reduction. In the third quintuplet pregnancy, one fetus vanished spontaneously and another was subject to iatrogenic reduction, two fetuses survived and were liveborn. Of the 221 fetuses identified 107 (48%) vanished spontaneously. CONCLUSION: Iatrogenic fetal reduction should be delayed until 12 weeks gestation in quadruplet or higher multiple gestations, but is probably not indicated in twin and triplet gestations.

Adult↗