Para-Bombay phenotype: A case report from a tertiary care hospital from South Gujarat.

The blood specimen of a 30-year-old male donor showing a discrepancy in cell and serum grouping was targeted for detailed study at the blood bank at tertiary care hospital in South Gujarat. Forward grouping showed group as "O" RhD positive and reverse grouping as group "A." Further testing confirmed that the individual's blood group was para-Bombay A (para-AH). Family members were screened, and younger brother was also identified as para-Bombay phenotype. The para-Bombay phenotype is very rare, and only a few cases have been reported from India. This blood group is characterized by the absence of ABH antigens on red blood cells (RBC's) with the presence of ABH substances in body secretions or by the weak expression of ABH antigens on RBC's with the absence or presence of substances in body secretions. This rare phenotype can be mislabeled as "O" if all detailed investigations are not performed.

Acute and late toxicities of radiotherapy for patients with discoid lupus erythematosus: a retrospective case-control study.

BACKGROUND: The purpose of this study was to evaluate acute and late toxicities of radiotherapy for patients with discoid lupus erythematosus (DLE). METHODS: A retrospective review was performed of patients with DLE who received radiotherapy at our institution between 1980 and 2005. Patients with other connective tissue disorders were excluded. Control patients were matched 2:1 with the DLE treatment courses based on age, cancer diagnosis, year of treatment, radiotherapy dose, and sex. Acute (within 30 days from the completion of radiotherapy) and late toxicities were evaluated for each treatment course using the Common Terminology Criteria for Adverse Events Version 3.0. RESULTS: Twelve patients with DLE received a total of 15 radiotherapy courses. The median follow-up time was 2.6 years (range, 0.0-15.2 years). Acute toxicity of any organ was observed in 10 (67%) treatment courses, of which 2 (13%) were Grade 3 or higher. Acute Grade 1 or 2 dermatologic toxicity was observed in 8 courses (53%). Late toxicity of any organ was observed in 7 of 12 (58%) evaluable treatment courses, of which 3 (23%) were grade 3 or higher. Late grade 1 or 2 dermatologic toxicity was observed in 5 (42%) courses. No patient experienced acute or late Grade 3 or higher dermatologic toxicity. The rates of any organ or dermatologic acute and late toxicity were not significantly different between DLE and control treatment courses. CONCLUSIONS: Our findings do not suggest an increased risk of toxicity to the skin or other organs in patients with DLE receiving radiotherapy.

Maternal and obstetric outcome of women with epilepsy.

UNLABELLED: Medical professionals and public are concerned about the complications of pregnancy and delivery in women with epilepsy (WWE). PURPOSE: Our aim was to prospectively ascertain occurrence of these complications in a cohort of WWE enrolled in a pregnancy registry. METHODS: All complications during pregnancy, delivery and first 48 h of postpartum period were recorded according to the registry protocol. This data were compared with similar statistics (for women without epilepsy) from a large teaching hospital. RESULTS: Between April 1998 and March 2005, there were 643 completed pregnancies in this registry. (Mean age 25.7+/-4.43 years; generalized epilepsy 46%; localization related epilepsy 54%; primigravida 53%.) Their complications are compared with those of 18,272 pregnancies managed in the teaching hospital (in parentheses). Spontaneous abortions 4.2% (2.38%); medical termination of pregnancies 2.64% (7.71%); anemia 0.62% (0.22%); gestational diabetes 1.56% (3.09%); pregnancy induced hypertension 3.89% (6.45%); antepartum hemorrhage 0.93% (1.64%); preterm labor 1.87% (6.12%); obstructed labor 0.62% (3%); cesarean section 33.4% (29.5%); assisted delivery 2.8% (2.68%); postpartum hemorrhage 0.31% (0.64%); peripartum seizures 1.4% (0.04%); intrauterine death 1.56% (2.2%); fibroid uterus or ovarian cyst 2.33% (0.53%); other medical illness 2.5% (2.15%); TORCH infection 0.31% (0.01%); birth weight <2.0 kg 4.19% (7.66%). CONCLUSIONS: There was no significant increase in the risk of complications of pregnancy or delivery except for spontaneous abortions, anemia, ovarian cyst, fibroid uterus, and seizures in the peripartum period which were more frequent in WWE. Frequency of cesarean section is not increased in WWE. There is no undue risk to pregnancy and childbirth in most WWE.

Motor and mental development of infants exposed to antiepileptic drugs in utero.

We prospectively evaluated the mental (MeDQ) and motor (MoDQ) developmental quotients of 395 (67.5% of the eligible) infants of mothers with epilepsy (IME) (mean age: 15 months) enrolled in the Kerala Registry of Epilepsy and Pregnancy between 1998 and 2004. The same developmental pediatricians, blinded to antiepileptic drug (AED) exposure, evaluated the children using the Indian adaptation of the Bayley Scale of Infant Development: Their mean MeDQ was 89.1+/-29.9 and mean MoDQ was 90.7+/-26.9. The MeDQ and MoDQ were impaired (<84) for 150 (37.6%) and 133 (33.5%) IME, respectively. Maternal age, type of epilepsy, seizure frequency, or use of folic acid did not correlate with the mean MeDQ or MoDQ. Maternal education was significantly correlated with the MoDQ, but not with the MeDQ, of the infants. Infants not exposed to AEDs (n=32) had a higher MeDQ (mean: 92.3, 95% CI: 81.4-103.2) and MoDQ (mean 94.7; 95% CI 84.9-104.5) than those exposed to AEDs (MeDQ--mean: 88.6, 95% CI: 85.5-91.6; MoDQ--mean: 90.0, 95% CI: 87.3-92.8). Those exposed to polytherapy had significantly lower developmental quotients than those exposed to monotherapy. Cumulative AED scores during pregnancy had an inverse relationship with developmental quotients. On multiple regression analysis, polytherapy was a stronger predictor of lower developmental quotients than dosage. Compared with carbamazepine monotherapy, valproate monotherapy was associated with significantly lower MeDQ and MoDQ in IME (93.1 and 95 vs 86.9 and 86.1), but the differences between other AEDs were not significant for IME exposed to valproate monotherapy. A limitation of the study is that the influence of maternal intelligence on developmental quotients was not evaluated.

Cardiac malformations are increased in infants of mothers with epilepsy.

We aimed to ascertain the prevalence of cardiac malformation (CM) and its association with antenatal exposure to an antiepileptic drug (AED) in infants of mothers with epilepsy (IMEs). Women with epilepsy (WWE) are enrolled in Kerala Registry of Epilepsy and Pregnancy (KREP) in the prepregnancy or early pregnancy period and are followed up with a standard protocol until the IMEs are 6 years old. At 3 months postpartum, a cardiologist, blinded to the AED exposure, carried out a clinical examination and echocardiography on all live-born babies. Patent foramen ovale (PFO) and interatrial septal defects of < 5 mm in size were excluded from CM. Details of maternal epilepsy, folate usage, AED exposure in the first trimester, and newborn characteristics were abstracted from the records of the KREP. We examined 462 babies. Maternal epilepsy was generalized in 201 (43.50%) or localization related in 241 (52.2%). The AED exposure was monotherapy in 262 (56.7%)--carbamazepine (112), valproate (71), phenobarbitone (43), phenytoin (31), and clonazepam (2)--and polytherapy in 126 (27.3%). Seventy-four infants (16.01%) had no AED exposure. There were 36 infants with CM (7.8%; 95% confidence interval: 5.5-10.6). CMs included atrial septal defect (26; 72.2%), tetrology of Fallot (3; 8.3%), patent ductus arteriosus and pulmonic stenosis (2 each; 5.6%), and ventricular septal defect, tricuspid regurgitation, transposition of great arteries (1 each; 2.8%). CMs were significantly more for IMEs with premature birth (p < .003). There was no association between CM and maternal age, epilepsy syndrome, seizure frequency during pregnancy, and folate use. CMs were more frequent with polytherapy (13; 10.3%) compared to monotherapy (17; 6.5%). Those with valproate exposure had a trend (not statistically significant) toward higher frequency of CM compared to IMEs on other AEDs as monotherapy.

Immunoreactive thyroglobulin-like material derived from saliva.

The presence of an immunoreactive thyroglobulin-like material in saliva from normal subjects and from 35 patients with thyroid carcinoma was detected by radioimmunoassay. The levels of this material in saliva were markedly elevated in patients with extensive metastases. Concentrated saliva samples from normal subjects and from patients with thyroid carcinoma were fractioned on Sepharose-6B and each fraction was assayed from thyroglobulin content by RIA. Several protein peaks of varying molecular size with thyroglublin-like immunoreactivity were observed. The physiological significance of these molecules in saliva remains to be established.