Acute myeloid leukemia presenting simultaneously in two siblings

The rare occurrence of acute myeloid leukemia simultaneously in two siblings, 3-year male and 1-year female, in the absence of any known predisposing condition is reported. We speculate that an initial in-utero genetic alteration followed by subsequent environmental exposure to some unknown toxin may have resulted in leukemogenesis.     

An unusual case of neonatal anuria

Neonatal anuria is not an uncommon problem in neonates. Here, we report an unusual case of neonatal anuria due to renal tubular dysgenesis, secondary to the use of angiotensin converting enzyme inhibitor (ACEI) during pregnancy. ACEI remains one of the most commonly used antihypertensive drug at present. A greater awareness needs to be created in the medical fraternity especially among pediatricians, gynecologists and internists that ACE inhibitors should not be prescribed during any trimester of pregnancy.     

Primary liposarcoma of the omentum: a case report and review of the literature

A case of round cell liposarcoma of omentum in a 45-year-old man is reported. The patient presented with abdominal pain, swelling and fever of 4-month duration. Abdominal ultrasonography and computed tomogram confirmed the presence of an abdominal mass, but the omental origin of the tumour was revealed only on laparotomy. In addition to the main tumour mass, multiple nodules were present in the omentum. The tumour was excised with omentum. Histopathology of the tumour revealed a round cell liposarcoma. The patient expired 9 months after operation. Eight other cases of liposarcoma of omentum reported in English literature are reviewed.     

Are laboratory animals stressed by their housing environment and are investigators aware that this stress can affect physiological data?

Although stress can affect the behavior and physiology of laboratory animals, there has been little investigation into how the quality of animal research is affected if the animals are stressed. Even minor perturbations (i.e., environmental noise) can produce a stress response. A pilot survey was designed (29/49 responded) to determine the prevalence of noise in animal facilities and whether researchers are aware that noise can affect animal physiology. Most respondents agreed that environmental factors are stressful to laboratory animals (97%) and minor pain/stress causes physiological changes (62%). Of 19/29 respondents who believed their facility was quiet, 8 identified at least 3-5 pronounced noise sources. We hypothesize that the level of extraneous noise considered acceptable by an investigator depends on their degree of awareness that environment can affect an animal's physiology, and their perception of the existence of 'mind-body' interactions in an animal.     

Fine mapping of the alpha-T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees

Using plasma amyloid beta protein (Abeta42) levels as an intermediate, quantitative phenotype for late onset Alzheimer's disease (LOAD), we previously obtained significant linkage at approximately 80 cM on chromosome 10. Linkage to the same region was obtained independently in a study of affected LOAD sib-pairs. Together, these two studies provide strong evidence for a novel LOAD locus on chromosome 10 that acts to increase Abeta42. VR22 is a large (1.7 Mb) gene located at 80 cM that encodes alpha-T catenin, which is a binding partner of beta catenin. This makes VR22 an attractive candidate gene because beta catenin interacts with presenilin 1, which has many mutations that elevate Abeta42 and cause early onset familial AD. We identified two intronic VR22 SNPs (4360 and 4783) in strong linkage disequilibrium (LD) that showed highly significant association (P=0.0001 and 0.0006) with plasma Abeta42 in 10 extended LOAD families. This association clearly contributed to the linkage at approximately 80 cM because the lod scores decreased when linkage analysis was performed conditional upon the VR22 association. This association replicated in another independent set of 12 LOAD families (P=0.04 for 4783 and P=0.08 for 4360). Bounding of the association region using multiple SNPs showed VR22 to be the only confirmed gene within the region of association. These findings indicate that VR22 has variant(s) which influence Abeta42 and contribute to the previously reported linkage for plasma Abeta42 in LOAD families.     

Pheochromocytoma associated with pregnancy

Pheochromocytoma associated with pregnancy is rare with potentially lethal consequences. Antepartum diagnosis improves the maternal and perinatal outcome. The issue of mode of delivery is unresolved. Its definitive treatment is surgical resection preceded by medical management. Surgical resection may be done during caesarean section as is reported in the present case.     

Down syndrome: still a social stigma

Down Syndrome (DS) is a commonly occurring chromosomal abnormality. The incidence increases with advancing maternal age over 35 years. Over the last three decades, tremendous progress has been made in the medical and surgical treatment of these infants. Nationally, a great deal of resources are allocated to DS infants to improve their growth and development. Yet, the perception remains that the DS infant is still not openly accepted by parents and society, as illustrated by the presented cases. This lack of acceptance creates many complex ethical challenges in treating such babies, starting with fetal diagnosis of the disorder in the womb and moving through early stages after the birth of the baby. We argue that health professionals have the responsibility to help make public attitudes more accepting of Down Syndrome. Professionals should encourage social and community involvement of these children. The National Association for Down Syndrome should be contacted periodically to promote activities to enhance public awareness. To the end of greater acceptance, we suggest a ritual at birth that might improve the acceptance of the DS child into the family and the community and hence help improve social attitudes toward Down Syndrome.     

The effect of in utero exposure to indomethacin on the need for surgical closure of a patent ductus arteriosus in the neonate

OBJECTIVE: Our purpose was to determine the effect of in utero exposure to indomethacin on the need for surgical closure of a patent ductus arteriosus (PDA). STUDY DESIGN: Perinatal variables were compared between infants at <32 weeks who required surgical closure of PDA after failed medical management and those who did not. Statistical analysis was performed by Student t, Mann-Whitney, chi(2), and multiple logistic regression tests. RESULTS: Eight of 77 infants with PDA failed therapy and required surgery. Maternal demographics, gestational age, birth weight, and delivery route were similar in both groups. In utero exposure to indomethacin was more common in neonates requiring surgery versus those who did not, particularly when exposure was for >72 hours (50.0% vs 8.7%, odds ratio 10.5, 95% CI 1.6-72.1, P =.008). CONCLUSION: Need for surgical closure of PDA appears to be increased by in utero indomethacin exposure. These findings should be considered in the overall context of the risk versus benefits of tocolysis.