Prenatal diagnosis of choroid plexus papillomas of the lateral ventricle. A report of two cases

The aim of the present study was to investigate whether a difference in susceptibility to chemically induced irritation of the oral mucosa in 14 pre- and 14 post-menopausal women exists, following local exposure to sodium lauryl sulphate (SLS) in toothpastes. 4 different pastes differing only in detergent concentration present, or not, were used. The participants applied 1 cm of the different test toothpastes to a cap splint covering the teeth and the oral mucosa of the upper jaw 2 x daily for 2 min during a period of 4 days. 42 desquamative reactions of the oral mucosa (in 20 subjects) were observed, 29 and 13 in the pre- and the post-menopausal group, respectively. Desquamation was only experienced following exposure to SLS-containing toothpastes, not succeeding SLS-free paste. The results demonstrated that oral mucosa of pre-menopausal women was significantly more sensitive to SLS than oral mucosa of post-menopausal women. The difference in mucosal irritation between the 2 groups increased with increasing concentration of SLS.     

Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases

The finding of homozygosity for a pericentric inversion of chromosome 9 [inv(9)] is rare, and previously has not been reported at prenatal diagnosis. We describe two unrelated cases of homozygosity for inv(9) identified in amniocytes. In each case, both parents were heterozygotes for the inv(9); 46,XX,inv(9)(p11q13) and 46,XY,inv(9) (p11q13). Case 1 resulted in a normal term infant who at age 5 years was phenotypically and developmentally normal. Case 2 was referred for severe intrauterine growth retardation (IUGR) and oligohydramnios, and subsequently expired in utero. Even though inv(9) is a normal chromosome variant with a frequency of 1 to 3% in the general population, the finding of homozygosity for inv(9) and IUGR in this fetus suggested the possibility of uniparental disomy (UPD). Molecular studies confirmed the presence of both parental inv(9) chromosomes, excluding the possibility of chromosome 9 UPD as the cause of IUGR in this fetus. Presumably, inv(9) homozygosity results from the high frequency of inv(9) heterozygosity, and is a normal variant. However, until the effects of UPD for chromosome 9 are established, parental karyo types and, where appropriate, molecular studies should be performed to exclude UPD. In addition, more reports of inv(9) homozygosity detected prenatally are needed to assess its frequency and outcome.     

Prenatal diagnosis of fetal nuchal cystic hygroma in 22 cases

OBJECTIVE: To investigate the early diagnosis and prognosis of fetal nuchal cystic hygroma. METHODS: 72 cases of fetal nuchal cystic hygroma diagnosed in uterus were analyzed retrospectively. RESULTS: Most of the cases were diagnosed by B ultrasound between 15-26 gestational weeks. 55.9% the multipara had abnormal pregnant history, and 40% (4/10) of fetuses with karyotype performed had chrosome abnormality. Except for fetal deaths and induced abortions, 3 cases had term deliveries: one neonatal death, one was born with hygroma of 5.9 cm x 3.7 cm and transferred for surgery, and the other one with hygroma disappeared at the 37th week and baby was born at 40 week with normal appearance. CONCLUSIONS: This disease is one of common fetal morphological abnormalities. Few may recover spontaneously but most have poor outcomes.     

Prenatal diagnosis

The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality. Although this undoubtedly will be true for ultrasonography, the increased speed of magnetic resonance equipment may offer a new realm of imaging possibilities. Computerized image processing, analysis, and three-dimensional reconstructions all should make interpretation of fetal images easier and more understandable to the nonspecialist. Advances in molecular genetics will continue to accelerate, greatly expanding the range and accuracy of prenatal diagnosis. The alert pediatrician who is sensitive to genetic issues may, by early detection of pediatric disorders and careful family history assessment, be in a position to identify families at risk for serious genetic conditions and provide the opportunity to make informed decisions on reproductive options that avert a major tragedy. The pediatrician, working with obstetric colleagues, should be part of a team effort to support families going through prenatal testing. Familiarity with these rapidly changing technologies will make it far easier to support the family needing additional explanation about prenatal diagnosis issues.     

Occult dysraphism in adulthood. A series of 24 cases

The results of a retrospective study of 24 adult patients with occult dysraphism are described. There were 15 males and 9 females, with an average age of 31.1 years. Specific circumstances precipitated symptomatic onset in 67% of patients. Pain, often referred to the anorectal region, was the most common presenting symptom. Bladder and bowel dysfunction were also common findings. The most common tethering lesions were intradural lipoma and a short thickened filum terminale. Myelography revealed the diagnosis of tethered conus in most cases, but the addition of CT and MRI images provided valuable structural details. The surgical outcome was gratifying in relation to pain and sensory-motor deficits but disappointing in the resolution of sphincter disorders. Our conclusion is that symptoms and/or signs of TCS with onset in adult life are not invariably irreversible.     

Laparoscopy-assisted and -prepared hysterectomy. A series of 80 cases

OBJECTIVE: Our objective was to determine the interest of laparoscopic assisted vaginal hysterectomy. STUDY DESIGN: Between January 1991 to december 1994, 80 patients had laparoscopically assisted vaginal hysterectomy. We reviewed with particular emphasis characteristic indications, complications. RESULTS: Eighty were performed as laparoscopically assisted vaginal hysterectomy. 14 patients (17.5%) had laparotomy conversion; because of size of uterus in 3 cases, suspected ovarian tumor in 3 cases. Pelvic adherences in 4 cases, urinary tract injuries in 1 case, hypercapnia in 1 case, hemorrhage in 2 cases. 9 patients experienced febrile morbidity and 1 urinary infection. 1 patient received 2 units of packed red blood cells. The hospital stay was 5 days for laparoscopically assisted vaginal hysterectomy versus 5.9 for laparotomic hysterectomy. CONCLUSION: Laparoscopically assisted vaginal hysterectomy offers a technique to convert certain abdominal hysterectomies into vaginal hysterectomies with a 17.5% laparoconversion rate.     

Prenatal diagnosis of diastematomyelia

The long-term follow-up (from age 6 to 20 years) of a girl with Gitelman's syndrome, who had four hypomagnesaemic-tetanic episodes associated with normal plasma calcium, hypokalemia and hypocalciuria, is presented. During and after puberty, hypomagnesaemia was of the order of 0.41-0.49 mmol/l and plasma potassium was at the lower reference limit. The long-term clinical course and growth of this patient appeared good, but, magnesium supplementation reduces the risk of tetanic crises.     

Prenatal diagnosis of fucosidosis

A pregnancy from a family at risk for fucosidosis was monitored. Determinations of fucosidase and mannosidase were performed on the serum and white blood cells of several members of the family, om amniotic fluid and amniotic fluid cells of the fetus at several passages, and on fibroblast cell lines from index cases. The fetus was diagnosed as being free from the disease. This conclusion was confirmed after birth by fucosidase determination in plasma and white cells from cord blood, and in the placenta. Fluctuations in fucosidase activity were observed in extracts from cultured amniotic cells at various passages. The possible causes of this variability are discussed.     

Management of hypoparathyroidism during pregnancy--report of twelve cases

Rats exposed to Pneumocystis carinii mount antibody responses to a broad band migrating on western blot with an apparent molecular weight of 45-55 kDa. One antigen within this band, designated p55, is uniformly recognized by P. carinii exposed rats. Although the gene encoding the p55 antigen had been previously cloned, the location of this antigen within the organism was unknown. Prior attempts to localize the protein were unsuccessful. A monospecific polyclonal antiserum raised against a carboxyl-terminal 15-oligomer peptide yielded specific reactivity with a single 55 kDa band on a western blot of P. carinii. Using this antiserum, little to no reactivity could be detected with P. carinii organisms by immunofluorescence assay (IFA). However, zymolyase treatment of P. carinii dramatically increased the intensity and proportion of organisms reactive by IFA. Zymolyase, an enzyme with beta-1,3 glucanase activity, has previously been shown to remove the electron dense outer layer of the P. carinii cell wall, exposing an electron lucent layer. Immunoelectron microscopy performed on zymolyase treated organisms showed the majority of labeling occurs within the cell wall.     

Prenatal diagnosis: methods--indications--risks

The demands made on prenatal care in terms of fetal anomaly recognition and full and early counseling have become more and more sophisticated over the last few years. Today, a range of non-invasive and invasive procedures are now available for the detection of fetal anomalies, genetic disorders and e.g. infection. The most important of the former are ultrasound and triple test (determination of alpha feto-protein, HCG and unconjugated estriol), while amniocentesis remains the major invasive measure. The indications, the information they provide, and possible risks of these procedures are discussed.     

Prenatal ultrasound diagnosis of seizures

We present a case of fetal diagnosed by ultrasound. Clinical aspects of this patient and the differential diagnosis of early neonatal seizures are discussed. A diagnosis of fetal seizures confirmed by ultrasonography is a rare event. Review of the literature shows only four cases of documented fetal seizures. This report describes a case of fetal seizures diagnosed in utero, its management, and the neonatal outcome. We also discuss the differential diagnosis.     

Prenatal diagnosis of Apert syndrome

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.     

The twelve steps. A pathway to recovery

Alcoholics Anonymous and its 12 Steps and 12 Traditions have arisen out of the experiences of recovery of alcoholics. It offers an important treatment option to the clinician who sees destructive compulsive disease in his or her practice. Despite their nonscientific, nonrational approach, AA and other 12-step programs have evolved to offer a set of attitudes, beliefs, and behaviors that can facilitate change in this group of patients. AA is the forerunner of the others and offers as its most important characteristics an unconditional acceptance of the patient's alcoholism, an unshaken belief in the concept of alcoholism as a disease, and support to foster a healthy dependence in the alcoholic. The recovery of an alcoholic involves a fairly long initial stage in which denial about alcoholism is broken down with slow and halting identity change. This characteristic underscores the primitive level of ego development in the alcoholic and the need for much continuing support, nurturance, and tolerance. Clinicians can be an important part of this support network by working with AA and other 12-step groups to help break down denial in the patient and direct individuals to the appropriate program. By allying themselves with this method and groups, clinicians will be making powerful statements about their beliefs and attitudes toward these destructive illnesses.