Abstract: Thyroid dysfunction is one of the most frequently
reported complications of chronic blood transfusion therapy in patients with beta-thalassemia major (BTM). However, the occurrence of thyroid dysfunction and its possible association with
iron overload in BTM patients is still under debate. Therefore, this
study aimed to investigate the status of thyroid functions and iron overload in adolescent and young adult patients with BTM in Jordan population. Thirty six BTM patients aged 12-28 years and matched controls were included in this study. All patients have been receiving frequent blood transfusion to maintain pretransfusion hemoglobin
concentration above 10 g dl-1 and deferoxamine at a dose of 45 mg kg-1 day-1 (8 h, 5-7 days/week) by subcutaneous infusion. Blood
samples were drawn from patients and controls. The status of thyroid functions and iron overload was evaluated by measurements of serum
free thyroxine (FT4), triiodothyronine (FT3), thyrotropin (TSH) and
serum ferritin level. A number of some hematological and
biochemical parameters were also measured. It was found that hematocrit, serum ferritin, hemoglobin, FT3 and zinc, copper mean values were significantly higher in the patients than in the controls (P< 0.05). On other hand, leukocyte, FT4 and TSH mean values were
similar to that of the controls. In addition, our data also indicated that
all of the above examined parameters were not significantly affected
by the patient-s age and gender. Deferoxamine approach for removing excess iron from our BTM patient did not normalize the
values of serum ferritin, copper and zinc, suggesting poor compliance
with deferoxamine chelation therapy. Thus, we recommend the use
of a combination of deferoxamine and deferiprone to reduce the risk
of excess of iron in our patients. Furthermore, thyroid dysfunction
appears to be a rare complication, because our patients showed
normal mean levels for serum TSH and FT4. However, high mean
levels of serum ferritin, zinc, copper might be seen as potential risk
factors for initiation and development of thyroid dysfunctions and
other diseases. Therefore, further studies must be carried out at
yearly intervals with large sample number, to detect subclinical
thyroid dysfunction cases.
Abstract: The aim of this study was to demonstrate the possible
effect of some variables such as age, gender, blood sugar level, and
duration of diabetes on the serum level of zinc in diabetic individuals
from Murzuk area. Serum zinc (Zn), Fasting blood sugar (FBS),
hemoglobin HbA1c (HbA1c) were evaluated in 46 type I diabetic
subjects (group 1), 48 type II diabetic subjects (group 2) and 43
healthy individuals (control) of both genders aged (30-81) years. Data
showed that both diabetic groups have significantly higher (P0.05) differences in serum Zn levels were observed
between Males and Females. Serum Zn levels were non-significantly
decreased with increasing age. In type II diabetic subjects, serum Zn
levels were non-significantly decreased with increasing duration of
disease whereas those in type I were non-significantly increased.
Abstract: Sickle cell anemia is a recessive genetic disease
caused by the presence in the red blood cell, of abnormal hemoglobin
called hemoglobin S. It results from the replacement in the beta chain
of the acid glutamic acid by valin at position 6. Topics may be
homozygous (SS) or heterozygous (AS) most often
asymptomatic. Other mutations result in compound heterozygous:
- Synthesis of hemoglobin C mutation in the sixth leucin codon
(heterozygous SC);
- ß-thalassemia (heterozygous S-ß thalassemia).
SS homozygous, heterozygous SC and S- ß -thalassemia are grouped
under the major sickle cell syndromes.
To make a laboratory diagnosis of hemoglobinopathies in a
portion of the population in region of Batna, our study was
conducted on 115 patients with suspected sickle cell anemia, all cases
have benefited from hematological tests as blood count (count RBC,
calculated erythrocyte indices, MCV and MCHC, measuring the
hemoglobin concentration) and a biochemical test in this case
electrophoresis CAPILLARYS HEMOGLOBIN (E).
The results showed:
27 cases of sickle cell anemia were found on 115 suspected cases,
73,03% homozygous sickle cell disease and 59,25% sickle cell trait.
Finally, the double heterozygous S/C, represent the incidence rate of
3, 70%.
Abstract: Human genome is not only the evolutionary
summation of all advantageous events, but also houses lesions of
deleterious foot prints. A single gene mutation sometimes may
express multiple consequences in numerous tissues and a linear
relationship of the genotype and the phenotype may often be obscure.
ß Thalassemia minor, a transfusion independent mild anaemia,
coupled with environment among other factors may articulate into
phenotypic pleotropy with Hypocholesterolemia, Vitamin D
deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological
alterations. Occurrence of Pancreatic insufficiency, resultant
steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with
Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor
patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2
4.60% and Hb Adult 84.80% and altered Hemogram) with increased
Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2
(9.5mg/ml) indicate towards a cascade of phenotypic pleotropy
where the ß Thalassemia mutation ,be it in the 5’ cap site of the
mRNA , differential splicing etc in heterozygous state is effecting
several metabolic pathways. Compensatory extramedulary
hematopoiesis may not coped up well with the stressful life style of
the young individual and increased erythropoietic stress with high
demand for cholesterol for RBC membrane synthesis may have
resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia
may have caused the pancreatic insufficiency, leading to Vitamin D
deficiency. This may in turn have caused the secondary
hyperparathyroidism to sustain serum Calcium level. Irritability and
stress intolerance of the patient was a cumulative effect of the vicious
cycle of metabolic compromises. From these findings we propose
that the metabolic deficiencies in the ß Thalassemia mutations may
be considered as the phenotypic display of the pleotropy to explain
the genetic epidemiology.
According to the recommendations from the NIH Workshop on
Gene-Environment Interplay in Common Complex Diseases: Forging
an Integrative Model, study design of observations should be
informed by gene-environment hypotheses and results of a study
(genetic diseases) should be published to inform future hypotheses.
Variety of approaches is needed to capture data on all possible
aspects, each of which is likely to contribute to the etiology of
disease. Speakers also agreed that there is a need for development of
new statistical methods and measurement tools to appraise
information that may be missed out by conventional method where
large sample size is needed to segregate considerable effect.
A meta analytic cohort study in future may bring about significant
insight on to the title comment.
Abstract: Dichotomization of the outcome by a single cut-off point is an important part of various medical studies. Usually the relationship between the resulted dichotomized dependent variable and explanatory variables is analyzed with linear regression, probit regression or logistic regression. However, in many real-life situations, a certain cut-off point dividing the outcome into two groups is unknown and can be specified only approximately, i.e. surrounded by some (small) uncertainty. It means that in order to have any practical meaning the regression model must be robust to this uncertainty. In this paper, we show that neither the beta in the linear regression model, nor its significance level is robust to the small variations in the dichotomization cut-off point. As an alternative robust approach to the problem of uncertain medical categories, we propose to use the linear regression model with the fuzzy membership function as a dependent variable. This fuzzy membership function denotes to what degree the value of the underlying (continuous) outcome falls below or above the dichotomization cut-off point. In the paper, we demonstrate that the linear regression model of the fuzzy dependent variable can be insensitive against the uncertainty in the cut-off point location. In the paper we present the modeling results from the real study of low hemoglobin levels in infants. We systematically test the robustness of the binomial regression model and the linear regression model with the fuzzy dependent variable by changing the boundary for the category Anemia and show that the behavior of the latter model persists over a quite wide interval.
Abstract: Globin superfamily proteins including myoglobin and
hemoglobin, have welcome new members recently, namely,
cytoglobin, neuroglobin and globin X, though their physiological
functions are still to be addressed. Fish are the excellent models for the
study of these globins, but their characteristics have not yet been
discussed to date. In the present study, attempts have been made to
characterize their structural uniqueness by making use of proteomics
approach. This is the first comparative study on the characterization of
globin superfamily proteins from fish.
Abstract: Oxyleotris marmorata is considered as
undomesticated fish, and its culture occasionally faces a problem of
food deprivation. The present study aims to evaluate alteration of
hematological indices, blood chemical associated with liver function
during 4 weeks of fasting. A non-linear relationships between fasting
days and hematological parameters (red blood cell number; y = -
0.002x2 + 0.041x + 1.249; R2=0.915, P0.05), mean corpuscular
volume; y = -0.180x2 + 2.183x + 149.61; R2=0.732, P>0.05, mean
corpuscular hemoglobin; y = -0.041x2 + 0.862x + 29.864; R2=0.818,
P>0.05 and mean corpuscular hemoglobin concentration; y = -
0.044x2 + 0.711x + 21.580; R2=0.730, P>0.05) were demonstrated.
Significant change in hematocrit (Ht) during fasting period was
observed. Ht elevated sharply increase at the first weeks of fasting
period. Higher Ht also was detected during week 2-4 of fasting time.
The significant reduction of hepatosomatic index was observed (y = -
0.007x2 - 0.096x + 1.414; R2=0.968, P0.05, serum glutamic oxaloacetic transaminase;
y = 0.005x2 – 0.201x2 + 1.297x + 33.256; R2=1, P0.05). Taken together, prolonged fasting has
deleterious effects on hematological indices, liver mass and enzyme
associated in liver function. The marked adverse effects occurred
after the first week of fasting state.
Abstract: The contents of nitrates and nitrites were monitored in
15 ground water resources of a selected region earmarked for the
emergency supply of population. The resources have been selected on
the basis of previous assessment of natural conditions and the
exploitation of territory in the infiltration area as well as the
surroundings of water resources. The health risk analysis carried out
in relation to nitrates and nitrites, which were found to be the most
serious water contaminants, proved, that 14 resources met the health
standards in relation to the assessed criterion and could be included in
crisis plans. Water quality of ground resources may be assessed in the
same way with regard to other contaminants.