Frequency of symptoms of ovarian cancer in women presenting to primary care clinics

Context  Women with ovarian cancer frequently report symptoms prior to diagnosis, but distinguishing these symptoms from those that normally occur in women remains problematic. Objective  To compare the frequency, severity, and duration of symptoms between women with ovarian cancer and women presenting to primary care clinics. Design, Setting, and Patients  A prospective case-control study of women who visited 2 primary care clinics (N = 1709) and completed an anonymous survey of symptoms experienced over the past year (July 2001-January 2002). Severity of symptoms was rated on a 5-point scale, duration was recorded, and frequency was indicated as number of episodes per month. An identical survey was administered preoperatively to 128 women with a pelvic mass (84 benign and 44 malignant). Main Outcome Measures  Comparison of self-reported symptoms between ovarian cancer patients and women seeking care in primary care clinics. Results  In the clinic population, 72% of women had recurring symptoms with a median number of 2 symptoms. The most common were back pain (45%), fatigue (34%), bloating (27%), constipation (24%), abdominal pain (22%), and urinary symptoms (16%). Comparing ovarian cancer cases to clinic controls resulted in an odds ratio of 7.4 (95% confidence interval [CI], 3.8-14.2) for increased abdominal size; 3.6 (95% CI, 1.8-7.0) for bloating; 2.5 (95% CI, 1.3-4.8) for urinary urgency; and 2.2 (95% CI, 1.2-3.9) for pelvic pain. Women with malignant masses typically experienced symptoms 20 to 30 times per month and had significantly more symptoms of higher severity and more recent onset than women with benign masses or controls. The combination of bloating, increased abdominal size, and urinary symptoms was found in 43% of those with cancer but in only 8% of those presenting to primary care clinics. Conclusions  Symptoms that are more severe or frequent than expected and of recent onset warrant further diagnostic investigation because they are more likely to be associated with both benign and malignant ovarian masses.      

Rapid discontinuation of prednisone in higher-risk kidney transplant recipients

Prednisone-minimization protocols have been successful in low-risk recipients. We report on the use of a protocol incorporating rapid discontinuation of prednisone in a cohort of kidney transplant recipients (n = 79) at increased immunologic risk. Our data suggests that such recipients should not be excluded from prednisone-minimization protocols.     

Continuous muscle fiber activity syndrome

A 5.5 year old Turkish boy who suffered from progressive muscle stiffness was diagnosed as having continuous muscle fiber activity syndrome. Electromyography showed continuous motor neuron activity at rest and following intravenous injection of diazepam. Peripheral nerve block, spinal and general anesthesia diminished the spontaneous activities. The clinical and electrophysiological findings of our case were compared to the previously reported cases with emphasis on the heterogeneity of the syndrome.     

Agnathia (severe microghathia), aglossia and choanal atresia in an infant

A neonate is reported here, who was born with severe mandibular hypoplasia, complete absence of the tongue, unilateral choanal atresia, contralateral choanal stenosis and developed severe airway obstruction at birth. Arrested development of the ventral first branchial arch most likely underlies the clinical deficits. Most reported cases of agnathia have been lethal but the infant reported here has survived into infancy with a tracheostomy and feeding gastrostomy. Her clinical features, assessment and management are discussed.     

INCREASING CAESAREAN SECTION AND PERINATAL OUTCOME

An analysis of births by caesarean sections for ten years at a service hospital was carried out to identify the benefit in terms of reduction in perinatal mortality over the period without increase in maternal mortality and morbidity. An increase of 43.25 per cent in caesarean section rate was observed. Since 1986 there had been no significant change in the indications for caesarean sections or obstetrical care in terms of man and machine modernisation at this hospital. New born''s care in this hospital is supervised by obstetrician and medical specialist. However, a definite reduction in perinatal mortality rate by 59.68 per cent was noted with no maternal mortality in caesarean cases. This retrospective study showed that the judicious increase of caesarean sections could improve perinatal outcome.KEY WORDS: Perinatal mortality in caesarean section, Perinatal outcome with increased caesarean section rate     

A syndrome of generalized elastic fiber deficiency with leprechaunoid features: a distinct genetic disease with an autosomal recessive mode of inheritance

Three male infants with generalized elastolysis and leprechaunoid features from two related and consanguineous parents of Italian origin died in the first year of life following severe cardio-pulmonary complications. While these children showed a decrease in elastic fibers, no degeneration was noted and histochemical as well as systemic metabolic studies were negative. It is postulated that this disease is a variant of cutis laxa or at least that the absence of granular degeneration of the elastic fibers described by Goltz is a secondary manifestation present only in older children. Prenatal diagnosis of this syndrome is not yet possible since no intracellular or biochemical changes have been identified. In view of the familial occurrence of this syndrome, and the association of specific clinical and pathological findings, we suggest that we are dealing with a distinct hereditary disorder of the connective tissue.     

Date of conception and prevention of neural tube defects

The authors studied the time of conception of 280 fetuses and liveborns with anencephaly or spina bifida seen in a French Canadian population during a period of six years. There is an evident seasonal variation in the conception of NTD fetuses. Using a wave statistical model applied to data recorded over a six year period the authors have rejected the "no variation between the six two-month intervals" hypothesis at a P less than or equal to 0.005 level. It is postulated that, in any vitamin intake or environmental program to prevent NTD in families at risk, one must take into account the annual and seasonal variations, ethnic groups identity and the date of conception in the choice of control mothers.     

Germinal HPRT splice donor site mutation results in multiple RNA splicing products in T-lymphocyte cultures

We have used peripheral blood T-lymphocyte cultures to analyze the hprt mutation in two Lesch-Nyhan syndrome males who are cousins and to confirm the carrier status of female members of the family. Both cDNA and genomic DNA sequencing studies show that this patient carries a hitherto undescribed single base deletion in the exon 5 donor splice site sequence (15:+1, δG, base number 31635). The largest cDNA product contained all nine hprt exons plus an insertion of 66 bases of intron 5, consistent with the use of a cryptic splice site in intron 5 (aag₆₇/gtaagc). This splicing error would result in a chain terminating codon immediately after exon 5 (15:2–4, taa) and predicts a polypeptide of 133 amino acids. This loss of the normal splice donor site also results in multiple hprt mRNA species, combining the use of the cryptic splice site in intron 5 and splicing errors involving exons 2–6. In addition to defining a new Lesch-Nyhan mutation (hprt_Henryville), these results provide insight into aberrant splicing of hprt mRNA in T-lymphocytes.