Teaching perspectives on the communication of difficult news of genetic conditions to medical students.

Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination. Medical school curricula currently include training in breaking unexpected news; however, it is difficult to teach and assess. We use the perspectives of clinicians, educators, and a medical student who is the parent of a child with DS to frame a discussion on teaching, practicing, and assessing communication of difficult news in human genetics during medical school.

A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.

BACKGROUND: Individuals with various sized terminal duplications of chromosome 5p or terminal deletions of chromosome 18q have been described. These aberrations may cause congenital malformations and intellectual disability of varying severity. METHODS: Via an international collaborative effort, we obtained a cytogenetic diagnosis for a 5-year-old boy of Afro-Caribbean ancestry who has global developmental delay, dysmorphology, hypotonia, feeding difficulties, bilateral club feet, and intellectual disability. RESULTS: Conventional G-banded karyotyping showed additional chromatin of unknown origin on the long arm of chromosome 18. SNP microarray confirmed the loss of ~6.4 Mb from chromosome 18q: arr[hg19] 18q22.3-q23(71,518,518-77,943,115)x1. The source of the additional chromatin was determined from the microarray to be ~32 Mb from the short arm of chromosome 5 (arr[hg19] 5p13.3-p15.33(51,045-32,062,984)x3). The unbalanced translocation was verified by fluorescent in situ hybridization (FISH). Both parents are healthy and have normal karyotypes suggesting that this abnormality arose de novo in the proband, although gonadal mosaicism in a parent cannot be excluded. CONCLUSION: The combination of clinical features in this individual is most likely due to the partial deletion of 18q and partial duplication of 5p, which to our knowledge has not been previously described.

Reevaluating Biochemistry and Nutrition Education Through Opinions of Clinicians and Educators.

Biochemistry is a core component of medical education as it contributes to the fundamental basis and understanding of molecular mechanisms in pathophysiological processes. The convergence of nutritional factors also gives insight to many chronic diseases. Topics of nutrition are often incorporated into biochemistry coursework and must be integrated in a way that makes sense within the overall curriculum. An important issue raised by this structure is determining which topics are most important to a student's understanding and what topics are most relevant to future clinical practice. Previous surveys show medical undergraduates feel that much of current medical biochemistry coursework lacks clinical relevance and pays too much attention to small details. Here we report the results of a survey that aims to determine the biochemical and nutritional topics that physicians and educators feel are most important to teach in medical school. This information is important for medical schools to better prepare their students for what they will see and apply in their future clinical practice. Physicians and medical educators were surveyed, asked demographic questions, and then requested to provide a prioritized list of the top 10 biochemistry and nutrition topics that they believed should be focused on in undergraduate medical education. Topics suggested by participants were normalized for spelling, acronyms, and abbreviations and given a weight from 10 to 1. A prioritized list was then created based on the suggested topics. This list provides insight into the topics that medical educators and physicians consider important to cover in undergraduate medical education.

Beneficial Effects of ragi (Finger Millet) on Hematological Parameters, Body Mass Index, and Scholastic Performance among Anemic Adolescent High-School Girls (AHSG).

Adolescence is a period characterized by rapid physical, emotional, and mental growth and changes potentially resulting in health challenges. Anemia, which is a fairly common complication in this age group, is reported to negatively affect the cognitive ability of adolescents. Traditionally, ragi (Finger millet: Eleusine coracana), a cereal available in India, has been recommended as nutritional supplement to combat anemia because of its high protein and mineral content as well as anti-microbial property. This study sought to establish the effect of ragi in improving hematological parameters, body mass index, and scholastic performance among adolescent school girls. Sixty adolescent girls were randomly selected and divided into intervention (n = 30) and control groups (n = 30). The effect of dietary supplementation of ragi porridge on hematological parameters was evaluated on the intervention group at 45 and 90 days. Both groups were monitored for changes in body mass index and scholastic performance. A statistically significant increase in hemoglobin levels was observed in the intervention group after 90 days (from a mean of 11.3 g% to 12.54 g%; t (29) = 7.514, p < .0001), with no significant changes in the control group. No statistically significant differences between the two groups were observed for mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular volume, red cell distribution width, body mass index, and scholastic performance. The data show that daily dietary supplementation with ragi porridge has a positive effect on hemoglobin levels in adolescent high schools girls. A well planned nutrition education with dietary supplementation is thus recommended for better outcomes.

Psychomotor functions at various weeks of chronic renal failure in rats.

In chronic renal failure there is a gradual retention of substances in the tissues and body fluids, called as uremic retention toxins, which can bring about a number of biochemical activities in the body. Chronic renal insufficiency also leads to progressive behavioural conflict. Uremic toxins can affect both the central and the peripheral nervous system. Uremic encephalopathy is also associated with problems in cognition and memory. To study the psychomotor functional disorders in rats with progressive chronic renal failure surgical nephrectomy was done by resection method. The animals were grouped into two control groups, Sham control (SC) and normal control (NC) and two uremic groups, moderate uremia (GM) and severe uremia (GS). Psychomotor analysis was done by passive avoidance and open field in these animals at 4, 8, 12, and 16 weeks. After the incubation period, the nephrectomised groups (GM and GS) showed significant changes in exploratory, locomotor and emotional behaviour when compared to the controls (NC and SC). Psychomotor changes involve poor cognition, reduced memory, reduced locomotor activity and decreased exploratory drive and emotional disturbance like increased fear during the initial stages. During the later stages a restless behaviour was noticed, associated with diminished fear.

Evaluation of oxidative stress, antioxidants and prolactin in infertile women.

The objective of the study was to estimate the serum concentrations of oxidative stress markers-lipid hydroperoxide (MDA-Malondialdehyde), lactate dehydrogenase (LDH), nitrite; and ferric reducing antioxidant power (FRAP) - a measure of total antioxidant capacity in serum. Serum nitrite levels were high in fertile women than in infertile women (p<0.001), whereas MDA was high in infertile women than in fertile group (p<0.018). On classifying the entire group of women with infertility based on the etiology, serum MDA and LDH levels were higher in women with infertility due to unexplained factor than in women with other causes contributing to infertility compared to controls (p<0.001, p<0.02). A positive correlation among serum prolactin and nitrite suggested that hyperprolactinemia could contribute to infertility by inducing oxidative damage. Serum FRAP levels showed no significant difference in the groups studied. Lipid peroxidation was high in women with unexplained infertility which may be due to hyperprolactinemia.

Modified uremic rat model - A tool for uremic studies in rats.

Experimental model of chronic renal failure in rats have been described by many authors and has also been widely used in various studies. Many of these methods used highly sophisticated instruments which was difficult in our settings. The resection model was ideal in our experimental set-up, but this model had the risk of excessive bleeding and hypovolemia. In our study we used a combination of partial resection and ligation of the renal artery to create two models of stable uremia A and Moderate uremia B. Severe uremia. Both these models were compared with a sham operated group which served as controls. Following surgical procedure, the development of uremia was monitored by serial estimation of blood urea and serum creatinine levels that were measured at regular intervals (bi-weekly). From two weeks onwards the animals in the experimental group showed a significant elevation in the serum urea levels and a consistent elevation in the serum creatinine levels upto eight weeks when compared to the animals in the sham operated group. We established a modified method of producing renal failure which can be maintained for a period of six weeks. This model is simple, reproducible and less complicated that can be used for several studies relating to renal failure in the field of research.

Serum non-transferrin bound iron in hemodialysis patients not receiving intravenous iron.

BACKGROUND: Non-transferrin bound iron (NTBI) has been found to be raised in end stage renal disease (ESRD) patients on hemodialysis (HD) receiving intravenous (IV) iron. Such NTBI is proposed to cause oxidative damage to biomolecules. METHOD: NTBI, both ferrous (Fe(+2)) and ferric (Fe(+3)) forms, serum ferritin, protein thiols and lipid hydroperoxides were estimated by spectrophotometric and electrochemiluminescence immunoassay methods in patients with chronic renal failure (CRF), patients with ESRD on HD not receiving IV iron, and in normal controls. RESULTS: NTBI (Fe(+2)) in HD patients not receiving IV iron was higher than in normal controls. NTBI (Fe(+3)) was significantly higher in HD patients not on IV iron therapy than in CRF and normal controls. There was no significant increase in NTBI in CRF patients when compared to normal controls. Serum ferritin was higher in HD patients compared to CRF and normal controls. There was a significant increase in lipid hydroperoxides and protein thiols in HD patients and CRF patients when compared to normal controls. The NTBI did not correlate with serum ferritin and oxidative markers. CONCLUSION: The source of NTBI in hemodialysis is not only IV iron therapy but also the hemodialysis procedure per se. It may be due to microhemolysis during hemodialysis. The NTBI is however found to be catalytically inactive.

Oxidant-antioxidant status in colorectal cancer patients-Before and after treatment.

Erythrocyte antioxidant glutathione and malondialdehyde levels in erythrocytes and plasma glutathione S-transferase levels were estimated in patients with colorectal cancer and compared to controls. Further, the patients underwent four weeks of radiotherapy with adjuvant chemotherapy. The same parameters were estimated after four weeks of radiotherapy and compared with pretreatment levels. It was observed that there was a decrease in erythrocyte glutathione and malondialdehyde levels in patients with colorectal cancer compared to controls, but not in case of GST. However, after chemoradiotherapy, there were no statistically significant differences in all the parameters studied.

A study of hypoglycemic and antioxidant activity of Aegle marmelos in alloxan induced diabetic rats.

The present study was performed to evaluate the hypoglycemic and antioxidant effect of aqueous extract of Aegle marmelos leaves (AML) on diabetic rats. Male albino rats were randomly divided into three groups: Group I: Control; Group II: Diabetic rats; and Group III: Diabetic rats administered AML. Glucose, urea and glutathione-S-transferase (GST) in plasma, glutathione (GSH) and malondialdehyde (MDA) levels in erythrocytes were estimated in all the groups at the end of four weeks. There was a decrease in blood glucose at the end of four weeks in group III animals compared with group II, however it did not reach the control levels. There was an increase in erythrocyte GSH and a decrease in MDA in group III as compared to group II. The plasma GST levels were raised in diabetic rats when compared to controls. In the group III animals, there was a decrease in GST as compared to group II. Owing to hypoglycemic and antioxidant properties, AML may be useful in the long-term management of diabetes.

Tissue polypeptide specific antigen in the post therapeutic evaluation of patients with ovarian and colorectal cancer.

The study was designed to evaluate the significance of tissue polypeptide specific antigen (TPS) in patients with histologically proven ovarian and colorectal cancer following treatment along with CA125 (in ovarian cancer) and CEA (in colorectal cancer). Patients were grouped as follows:: Patients with stable disease: Patients with metastasis and relapseIn patients with ovarian and colorectal cancer, the mean TPS levels were significantly higher in patients of group II compared to group I. The percentage of patients above cut-off levels for TPS were 17.4% in group I and 95.5% in group II. Similar results were observed with the mean levels of CA125. In colorectal cancer patients, the percentage of patients above cut-off levels for CEA and TPS were 70% and 30% in group I and 100% in group II for both the markers. Our observations indicate that TPS may be used as a common marker to indicate metastases in patients with ovarian and colorectal cancer.

Serum glycoconjugates and ceruloplasmin in cancer of uterine cervix.

The present study was done to assess the levels of glycoconjugates and ceruloplasmin in sera of patients with cervical cancer. Serum hexoses, hexosamines, sialic acid and fucose are elevated in a variety of inflammatory and neoplastic conditions. All the glycoconjugates, except fucose were increased in serum of patients compared to controls. Also, hexoses and sialic acid levels were high in patients with later stages of cancer compared to patients with early stage disease (P=<0.0001, P=0.03). Serum ceruloplasmin was increased in patients with early stage cancer (51.5mg/dl) and with late stage cancer (61mg/dl) compared to controls (38mg/dl). The elevated glycoconjugates may be the result of inflammatory reaction associated with neoplasia, as serum ceruloplasmin (an acute phase reactant) is also increased in these patients.

Lipid peroxidation in different tissues: effect of high cholesterol and fish oil in the diet.

Malonyldialdehyde was measured in erythrocytes, aorta and spleen on feeding mice with high cholesterol diet in presence and absence of fish oil. Mice were grouped as: Group I: Control laboratory diet Group II: 0.16% cholesterol (sunflower oil) Group III: 1.16% cholesterol (sunflower oil) Group IV: 1.16% cholesterol (fish oil) After 7 weeks on their respective diets, erythrocytic, and splenic MDA levels were significantly higher in group III compared to controls. Also, MDA levels in aorta and spleen showed a significant increase in group IV males compared to group III males. However in group IV the erythrocyte MDA levels were almost equal to that in controls. This suggests that high cholesterol diet increases lipid peroxidation in erythrocytes, spleen and aorta. Addition of fish oil in the diet further increases lipid peroxidation in aorta and spleen, but not in the erythrocytes.