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1.
Rev. psiquiatr. clín. (São Paulo) ; 45(1): 12-14, Jan.-Feb. 2018. tab
Article in English | LILACS | ID: biblio-903049

ABSTRACT

Abstract Background This study was carried out at Punjab Institute of Mental Health and Centre for Nuclear Medicine Mayo Hospital, Lahore. It is aimed at the possible association of thyroid malfunctioning with suicide attempts of patients. Objective Determination of thyroid function status of suicidal psychiatric patients and their comparison with psychiatric patients without suicide attempt or ideation. Methods Total 54 patients with either past history of suicide attempt or current suicidal ideation were selected for analysis of their thyroid function status (age 15-55 years). Age matched 50 non-suicide psychiatric patients were included for comparison. Results Two patients with suicide attempt had overt thyroid dysfunction. Remaining patients had serum FT4, FT3 and TSH level within normal range. Suicide attempter patients had lower FT4 but increased FT3 and TSH levels compared to suicidal ideation patients. Serum FT4 and TSH levels in suicidal patients were not different from psychiatric patients. Serum FT3 in suicidal patients was lower than psychiatric patients (3.7 ± 0.8 vs. 4.3 ± 0.5; p < 0.05). Female suicidal patients had lower FT3 levels compared to male patients (3.4 ± 0.6 vs. 3.9 ± 0.8 pmol/L; p < 0.05). Discussion Local suicidal patients have higher incidence of overt thyroid disorder and lower FT3 levels compared to non-suicidal psychiatric patients.

2.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 483-486
Article in English | IMSEAR | ID: sea-156620

ABSTRACT

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder that shows large phenotypical variability, ranging from no symptoms to intellectual disability, motor retardation, and convulsions. In addition, homozygous and heterozygous mutation carriers can develop severe 5‑fluorouracil (5‑FU) toxicity. The lack of genotype‑phenotype correlation and the possibility of other factors playing a role in the manifestation of the neurological abnormalities, make the management and education of asymptomatic DPD individuals more challenging. We describe a 3‑month‑old baby who was incidentally found by urine organic acid testing (done as part of positive newborn screen) to have very high level of thymine and uracil, consistent with DPD deficiency. Since the prevalence of asymptomatic DPD deficiency in the general population is fairly significant (1 in 10,000), we emphasize in this case study the importance of developing a guideline in genetic counseling and patient education for this condition as well as other incidental laboratory findings.


Subject(s)
Dihydropyrimidine Dehydrogenase Deficiency/diagnosis , Dihydropyrimidine Dehydrogenase Deficiency/genetics , White People/genetics , Fluorouracil/diagnosis , Genetic Counseling , Humans , Infant, Newborn , Male , Neonatal Screening/methods , Public Health
3.
Br J Med Med Res ; 2011 July; 1(3): 96-104
Article in English | IMSEAR | ID: sea-162631

ABSTRACT

It is retrospective and hospital based case control study which was conducted in the federal city of Islamabad in Pakistan in order to assess the risk factors of the urinary bladder cancer. This study was based on the 100 controls and 50 cases comprising 150 subjects which were selected for interview from the two hospitals and required information like gender, age, smoking habits, family history of cancer, etc., was achieved. Both the descriptive and analytical approaches were used to find out the dominating risk factors of the disease. Odds ratios and 95 % Confidence Intervals were obtained for analytical purpose by using the binary logistic regression model. Three factors including cigarette smoking, source of drinking water and fried items were found to be significant having odds ratios and 95% confidence intervals of (17.158, 6.244- 47.147), (0.192, 0.061- 0.603) and (12.206, 3.291- 45.275), respectively. The study revealed that cigarette smoking, consumption of tap water and high use of fried items increases the risk of developing bladder cancer. On the other hand, the use of government provided for drinking purpose is a protection against the urinary bladder cancer as compared to tap water.

4.
Indian J Hum Genet ; 2011 Jan; 17(1): 29-32
Article in English | IMSEAR | ID: sea-138929

ABSTRACT

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is one of the genetic defects of mitochondrial fatty acid beta-oxidation presenting in early infancy or childhood. If undiagnosed and untreated, VLCAD deficiency may be fatal, secondary to cardiac involvement. We assessed the effect of replacing part of the fat in the diet of a 2 ½-month-old male infant, who was diagnosed with VLCAD deficiency,with medium-chain triglyceride (MCT) oil and essential fats. The patient presented with vomiting, dehydration, and was found to have persistent elevation of liver function tests, hepatomegaly, pericardial and pleural effusion, right bundle branch block, and biventricular hypertrophy. Because of the cardiomyopathy, hepatomegaly, and an abnormal acylcarnitine profile and urine organic acids, he was suspected of having VLCAD deficiency. This was confirmed on acyl-coA dehydrogenase, very long chain (ACADVL) gene analysis. He was begun on an MCT oil-based formula with added essential fatty acids, uncooked cornstarch (around 1 year of age), and frequent feeds. By 7 months of age, cardiomyopathy had reversed and by 18 months of age, all cardiac medications were discontinued and hypotonia had improved such that physical therapy was no longer required. At 5 years of age, he is at the 50th percentile for height and weight along with normal development. Pediatricians need to be aware about the basic pathophysiology of the disease and the rationale behind its treatment as more patients are being diagnosed because of expansion of newborn screen. The use of MCT oil as a medical intervention for treatment of VLCAD deficiency remains controversial mostly because of lack of clear phenotype-genotype correlations, secondary to the genetic heterogeneity of the mutations. Our case demonstrated the medical necessity of MCT oil-based nutritional intervention and the need for the further research for the development of specific guidelines to improve the care of these patients.


Subject(s)
Acyl-CoA Dehydrogenase, Long-Chain/deficiency , Acyl-CoA Dehydrogenase, Long-Chain/genetics , Carnitine/chemistry , Child , Cardiomyopathy, Hypertrophic/diet therapy , DIETARY FATS ---ADMINISTRATION & , Dietary Fats/therapeutic use , Humans , Infant , Lipid Metabolism, Inborn Errors/genetics , Male , Metabolism, Inborn Errors , Triglycerides/administration & dosage , Triglycerides/analogs & derivatives , Triglycerides/therapeutic use
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