A Chinese adolescent girl with Fechtner-like syndrome

We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients.     

Sonographic measurement of cervical length and fetal fibronectin testing in threatened preterm labor.

OBJECTIVE: In women presenting with threatened preterm labor, both fetal fibronectin and sonographic measurement of cervical length have been shown to distinguish between true and false labor. The aim of this study was to determine whether the combination of both tests provides a better prediction than the individual tests alone. METHODS: We examined 195 women with singleton pregnancies presenting at 24-36 (median 31) weeks of gestation with regular and painful uterine contractions, intact membranes and cervical dilatation of less than 3 cm. On admission to the hospital fetal fibronectin positivity in cervicovaginal secretions was determined and transvaginal sonographic measurement of cervical length was carried out. The results were not made available to the attending obstetrician. The primary outcome measure was delivery within 7 days of presentation. RESULTS: Delivery within 7 days occurred in 51.4% (18 of 35) of those with cervical length below 15 mm and 0.6% (1 of 160) of those with cervical length of 15 mm or more, in 21.2% (18 of 85) of the fibronectin positive group and in 0.9% (1 of 110) of the fibronectin negative group. There was a significant association between cervical length and the incidence of fibronectin positivity (r = -0.921, P = 0.003). Logistic regression analysis demonstrated that the only significant contributor to the prediction of delivery within 7 days was cervical length, with no significant contribution from fibronectin positivity, ethnic origin, maternal age, gestational age, body mass index, parity, previous history of preterm delivery, cigarette smoking, or use of tocolytics. CONCLUSIONS: In women with threatened preterm labor assessment of fetal fibronectin in cervicovaginal secretions does not improve the prediction of delivery within 7 days provided by the sonographic measurement of cervical length.     

The prevalence of transsexualism in Singapore

The prevalence of transsexualism in Singapore was estimated by counting all the patients who sought sex-reassignment surgery and were subsequently diagnosed as transsexuals by psychiatrists. Up to 1986, there were a total of 458 Singapore-born transsexuals, of which 343 were males and 115 were females. This was a prevalence of 35.2 per 100,000 population age 15 and above (or 1/2900) for male transsexualism, and 12.0 per 100,000 (or 1/8300) for female transsexualism. The sex ratio was about 3 males to 1 female. The main reason for the high prevalence was the availability of sex-reassignment surgery.     

Intrapartum sonography to determine fetal occipital position: interobserver agreement.

OBJECTIVE: To investigate the interobserver agreement on the intrapartum ultrasonographic definition of the fetal occipital position. METHODS: In 60 singleton pregnancies in labor at term the fetal occipital position was determined by transabdominal ultrasound by two appropriately trained sonographers who were not aware of each other's findings. The Bland-Altman plot was performed and the 95% limits of agreement were calculated. Logistic regression analysis was used to investigate the association between complete agreement in the fetal occipital position between the two observers and maternal and labor characteristics. RESULTS: The two observers had complete agreement on the fetal occipital position in 22/60 (36.7%) cases and disagreement by 15 degrees and 30 degrees in 31 (51.7%) and seven (11.6%) cases, respectively. The mean of the differences between the two observers was 0.25 degrees and the 95% limits of agreement were -28.9 degrees (-32.2 degrees to -25.6 degrees) to 29.4 degrees (26.1 degrees to 32.7 degrees). There were no significant associations between complete agreement and maternal and labor characteristics. CONCLUSION: The interobserver agreement on sonographically determined fetal occipital position during labor is within 15 degrees in nearly 90% of cases and within 30 degrees in all cases.     

Small cell variant of Ki-1 lymphoma associated with myelofibrosis and a novel constitutional chromosomal translocation t(3;4) (q13;q12).

An unusual case of small cell variant of Ki-1 non-Hodgkin's lymphoma diagnosed one year after an original diagnosis of idiopathic myelofibrosis is reported. On the second occasion, the patient presented with fever, lymphadenopathy and hepatosplenomegaly. A lymph node biopsy specimen confirmed a diagnosis of small cell variant of Ki-1 lymphoma. A repeat bone marrow biopsy specimen showed myelofibrosis with no evidence of lymphomatous infiltration, but cytogenetic studies on blood, bone marrow and skin fibroblasts revealed a novel chromosomal translocation t(3,4)(q13;q12).     

Cloning and characterisation of malE in Burkholderia pseudomallei

No recombinant protein is available for serodiagnosis or skin test in the diagnosis of melioidosis. This report describes the cloning of the malE gene, which encodes an immunogenic protein of Burkholderia pseudomallei. Bi-directional DNA sequencing of malE revealed that the gene contained a single open reading frame encoding 416 amino acid residues with a predicted molecular mass of 44.4 kDa. BLAST analysis showed that the putative protein encoded by malE is homologous to the maltose-binding protein (MBP) of other bacteria. It has 48% and 63% amino acid identity and similarity with the MBP of Brucella abortus, and malE complementation assay showed that it partially complemented the function of the MBP of Escherichia coli. Several highly conserved regions among the MBP of B. pseudomallei, Br. abortus, Salmonella enterica serotype Typhimurium, E. coli and Enterobacter aerogenes were observed. These regions represent signatures A, B, C, D and F identified in the MBP of E. coli. Further sequence analysis revealed that the first 24 amino acid residues of the MBP of B. pseudomallei probably represent the N-terminal signal peptide of the protein. Similar to the signal peptide of the MBP of E. coli, Ent. aerogenes and S. Typhimurium, the MBP of B. pseudomallei contains two basic residues in the first eight amino acids, followed by a hydrophobic core, with the last three amino acids in the signal peptide being Ala-Gln-Ala, conforming to the consensus sequence Ala-X-Ala at positions -3 to -1 relative to the site of proteolytic cleavage for recognition by signal peptidase I. Further studies on serodiagnosis of melioidosis with recombinant MBP should be performed.