The short-term impact of high energy nutritional supplements on energy balance in underweight primi-gravidae: A randomized controlled trial.

OBJECTIVE: To determine the impact of high-energy nutritional supplements on appetite, appetite regulators, energy intake and macronutrients level among underweight primigravidae. Methods: The single-blind randomised controlled trial was conducted from April 26, 2018, to August 10, 2019, in tertiary care hospitals of Khyber Pakhtunkhwa province of Pakistan, after approval from the ethics review committee of Khyber Medical University, Peshawar, and comprised underweight primigravidae who were randomly allocated to high energy nutritional supplement group A and placebo group B. Appetite questionnaires were filled and blood samples were obtained in fasting state, at 30, 60, 120, 210 and 270 minutes to measure blood glucose, insulin, peptide YY and cholecystokinin. Breakfast and lunch were served at 30 minutes and 210 minutes after supplementation, respectively. Data was analysed using SPSS 20. RESULTS: Of the 36 subjects, 19(52.8%) were in group A and 17(47.2%) were in group B. The overall mean age was 18.66 ± 2.5 years. Energy intake in group A was significantly higher than group B (p<0.001), and so were mean protein and fats (p<0.001). The subjective appetite perceptions for 'hunger' and 'desire to eat' were significantly lower (p<0.001) before lunch in group A. Plasma concentrations of appetite hormones corresponded to the appetite perceptions and were significantly higher in group A after breakfast and lunch for peptide YY, cholecystokinin and insulin compared to group B (p<0.001). CONCLUSIONS: High-energy nutritional supplement was found to have short-term suppressive effect on energy intake and appetite. Trial registration: ClinicalTrials.gov Identifier: ISRCTN 10088578. Registered on 27 March 2018. https://www.isrctn.com/ ISRCTN10088578.

Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

BACKGROUND: Woodhouse-Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and disease course. The most common phenotypes of the disease are progressive sensorineural hearing loss and alopecia, mild-to-moderate mental retardation and hypogonadism. The disease results from mutations in the DCAF17 gene. METHOD: Here, we reported a large consanguineous pedigree with multiple affected individuals with Woodhouse-Sakati syndrome phenotypes. Laboratory tests confirmed the endocrine perturbance in affected individuals. To find out the underlying genetic change, whole-exome sequencing was carried out. RESULT: Analysis of the exome data identified a splicing-site deletion NM_025000.3:c.1423-1_1425delGACA in DCAF17 gene. Sanger sequencing confirmed the co-segregation of the variant with the disease phenotypes in the family. CONCLUSION: The variant is predicted to cause aberrant splicing, i.e., exon skipping, resulting in the translation of a truncated functionless protein which results in appearance of typical phenotypic features and clinical laboratory findings of Woodhouse-Sakati syndrome in affected members of the family.

Effect of Lipid-Based Multiple Micronutrients Supplementation in Underweight Primigravida Pre-Eclamptic Women on Maternal and Pregnancy Outcomes: Randomized Clinical Trial.

Background and Objectives: In pre-eclampsia, restricted blood supply due to the lack of trophoblastic cell invasion and spiral artery remodeling is responsible for adverse pregnancies and maternal outcomes, which is added to by maternal undernutrition. This study was designed to observe the effect of multiple nutritional micronutrient supplements on the pregnancy outcomes of underweight pre-eclamptic women. To investigate the effects of lipid-based multiple micr supplementations (LNS-PLW) on pregnancy and maternal outcomes in underweight primigravida pre-eclamptic women. Materials and Methods: A total of 60 pre-eclamptic, underweight primigravida women from the antenatal units of tertiary care hospitals in the Khyber Pakhtunkhwa Province, Pakistan, were randomly divided into two groups (Group 1 and Group 2). The participants of both groups were receiving routine treatment for pre-eclampsia: iron (60 mgs) and folic acid (400 ug) IFA daily. Group 2 was given an additional sachet of 75 gm LNS-PLW daily till delivery. The pregnancy outcomes of both groups were recorded. The clinical parameters, hemoglobin, platelet count, and proteinuria were measured at recruitment. Results: The percentage of live births in Group 2 was 93% compared to 92% in Group 1. There were more normal vaginal deliveries (NVDs) in Group 2 compared to Group 1 (Group 2, 78% NVD; group 1, 69% NVD). In Group 1, 4% of the participants developed eclampsia. The frequency of cesarean sections was 8/26 (31%) in Group 1 and 6/28 (22%) in Group 2. The number of intrauterine deaths (IUDs) was only 1/28 (4%) in Group 2, while it was 2/26 (8%) in Group 1. The gestational age at delivery significantly improved with LNS-PLW supplementation (Group 2, 38.64 ± 0.78 weeks; Group 1, 36.88 ± 1.55 weeks, p-value 0.006). The Apgar score (Group 2, 9.3; Group 1, 8.4) and the birth weight of the babies improved with maternal supplementation with LNS-PLW (Group 2, 38.64 ± 0.78 weeks: Group 1, 36.88 ± 1.55; p-value 0.003). There was no significant difference in systolic blood pressure, while diastolic blood pressure (Group 2, 89.57 ± 2.08 mmHg; Group 1, 92.17 ± 5.18 mmHg, p-value 0.025) showed significant improvement with LNS-PLW supplementation. The hemoglobin concentration increased with the LNS-PLW supplement consumed in Group 2 (Group 2, 12.15 ± 0.78 g/dL; Group 1, 11.39 ± 0.48 g/dL, p-value < 0.001). However, no significant difference among the platelet counts of the two groups was observed. Conclusions: The pregnancy and maternal outcomes of underweight pre-eclamptic women can be improved by the prenatal daily supplementation of LNS-PLW during pregnancy, along with IFA and regular antenatal care and follow-up.

Effects of lipid based Multiple Micronutrients Supplement on the birth outcome of underweight pre-eclamptic women: A randomized clinical trial.

BACKGROUND AND OBJECTIVE: Maternal under nutrition and low birth weight babies are among the common tragedies of developing countries like Pakistan. Preeclampsia and its significant association with fetal growth restriction due to spiral arteries remodeling and trophoblastic invasion decreases nutritional supply to growing fetus added by maternal under nutrition. This study was designed to see the effects of lipid based nutritional supplements for pregnant and lactating women LNS-PLW on maternal and fetal outcome of pre-eclampsia. METHODS: Sixty underweight pre-eclamptic women were randomly assigned into two study Groups from April 2018 to December 2019 at the antenatal units of the tertiary Health care facilities of Lady Reading Hospital, Hayatabad Medical Complex Peshawar and Civil Hospital Matta Swat, KPK Pakistan in a randomized clinical trial. Participants were on routine drugs for pre-eclampsia and Iron and Folic Acid (60mg, 400 µg) daily, while participant of Group-2 (n=30) received one sachet of Lipid based nutritional supplement for pregnant and lactating women LNS-PLW in addition daily till delivery. The birth weight, gestational age, head-circumference, and birth length of babies were measured. RESULTS: The significant improvement found in the birth weight (p-value 0.003), gestational age (p-value 0.006), head circumference (P-value of 0.0006) and birth length (P-value of 0.0017) of babies of Group-2 women. We observed that addition of Lipid based nutritional supplement for pregnant and lactating women LNS-LPW improved the birth outcome in underweight women of pre-eclampsia. CONCLUSION: The Prenatal supplementation of Lipid based nutritional supplement for pregnant and lactating women LNS-PLW can improve birth weight, gestational age, length and head circumference of babies of underweight preeclamptic women.

Evaluation of chromosomal abnormalities and Y chromosome microdeletion in infertile males of 10 families.

This study was designed to investigate the hormonal, seminal changes and chromosomal aberrations in cases of male infertility. A total of ten infertile families from Khyber Pakhtunkhwa of Pakistan were included in the study. The families were clinically evaluated by standard criteria; diagnosis of azoospermic and oligospermic males was confirmed. Seminal, hormonal, ultra sonographic and histopathological examinations were carried out for all the affected participants of the study. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Hormones were altered in six families. Ultrasonographic abnormal finding was observed in six families. Karyotyping analysis revealed numerical aberration in family G (0X) and family I (XXY). The remainingfamilies had no structural or numerical aberration. Y chromosome microdeletion analysis revealed AZFc deletion in both the affected participants of the family C. The remaining families were found normal for microdeletion. The occurrence of chromosomal anomalies and Y chromosome microdeletions among infertile males strongly suggests the need to include these two tests in routine investigations of male in fertility cases.

Whole Genome Sequencing instead of Whole Exome Sequencing is required to identify the Genetic Causes of Polycystic Ovary Syndrome in Pakistani families.

BACKGROUND & OBJECTIVE: Polycystic Ovary Syndrome (PCOS) is the major cause of infertility in females. PCOS is a complex and multifactorial disease, genetic and environmental factors being important predisposing factors. Diagnosis of PCOS is difficult due to the complexity of this disease; hence, better diagnostic tests are required to improve its management. Aim of the study was to elucidate the genetic causes of PCOS in three Pakistani families. METHODS: Three Pakistani families segregating PCOS in an apparently autosomal recessive mode were recruited. Whole genome Single Nucleotide Polymorphism (SNP) genotyping and Whole Exome Sequencing (WES) were carried out to identify the candidate genes. RESULTS: SNP genotypes data analyses identified multiple regions of homozygosity on different chromosomes. WES was performed in affected members of the family. Screening for pathogenic mutations in homozygous regions failed to detect any mutation/variant of interest. CONCLUSION: PCOS is multifactorial and complex disease so variants in the coding as well as in non-coding regions may be the genetic causes of the disease. To elucidate the genetic cause(s) of the PCOS, Whole Genome Sequencing (WGS) is recommended to cover both coding and non-coding regions of the genome.

Screening of adult dental patients visiting Khyber College of Dentistry, Peshawar for HBV and HCV infections and identifying the associated risk factors.

OBJECTIVE: To screen out adult patients for HBV and HCV infections visiting Khyber College of Dentistry Peshawar (KCD) for different dental treatments and to identify the associated risk factors. METHOD: This cross-sectional study was conducted at Khyber College of Dentistry, Peshawar in the year 2013. A total of 1540 patients >15 years, visiting KCD for seeking different dental treatments were screened for hepatitis B & C. Informed consent was taken before blood collection and filling of a structured questionnaire. Blood samples were tested against HBsAg and anti HCV by using ICT that were further confirmed by ELISA. The data was analyzed using Epi info version 6. RESULTS: A total of 1540 patients were screened during the study. Among these 36.4%(561) were males and 63.6%(979) were females. Overall prevalence of HBV and HCV was 5.12%(79). On screening, 2.14%(33) were found to be HBs Ag positive of which 2.5%(14) were males and 1.9%(19) were females. HCV was found positive in 2.98%(46) individuals having male to female ratio of 1.6% and 3.8%. Frequency of HBsAg was high in age group 56-65 year and HCV in 36-45 year group. Previous history of IV/IM injections, spouse patient of hepatitis, blood transfusion, surgical operation were found significant risk factors in the transmission of both hepatitis B and C, while previous history of dental treatment and sharing of clippers were significant risk factor in spreading hepatitis C infection only. CONCLUSIONS: Overall prevalence of HCV was higher than HBV. Previous history of injections, spouse patient of hepatitis, blood transfusion, surgical operation were found significant risk factors in the transmission of both hepatitis B and C.

Comparison of maternal serum lipoproteins in normal pregnancy and primiparous patients with eclampsia.

OBJECTIVE: To evaluate changes in serum lipoproteins in primiparous women with eclampsia and compare it with pregnant women having normal blood pressure. METHODS: This cross sectional study was conducted on 65 primiparous eclamptic patients and 21 normotensive pregnant women in the tertiary care hospitals of Peshawar. History of each woman was recorded on a questionnaire. Blood pressure was measured using standard methods. About 5 ml of venous blood was drawn for the analysis of lipoproteins. The data was analyzed using computer software package SPSS version 10. The P value <0.05 was considered statistically significant. RESULTS: Mean age of hypertensive cases was 23.2 ± 0.52 years while that for controls was 23.9 ± 1.16 years. Significant differences were found in serum lipoproteins. Women having eclampsia had 28.8%, 29.5%, 31.1%, 32.9% and 65.3% higher, low density lipoprotein-cholesterol (LDLC), triglycerides (TG), total cholesterol (TC):high density lipoprotein-cholesterol (HDLC) ratio, LDLC: HDLC ratio and TG: HDLC ratio respectively as compared to the control group. The HDLC concentrations, HDLC: VLDLC ratio and apolipoprotein-A1 level were 26.9%, 56.6% and 27.9% respectively, lower in the patient group as compared to the controls. CONCLUSION: This study suggests that evaluation of lipoprotein concentrations during antenatal period can be helpful in the early detection and prevention of developing eclampsia.

Adipokine Serum visfatin level in pregnancy induced hypertension and uncomplicated pregnancy.

BACKGROUND AND OBJECTIVES: Hypertensive disorder in pregnancy is the significant disease that badly affects the maternal and fetal prognosis and lead to higher mortality and morbidity in the prenatal period. Visfatin, potentially a new adipokine has emerged having high contribution in pathogenesis of pre-eclampsia. The objective of the study was to find the level of Visfatin in pregnancy induced hypertension and normal pregnant women. METHODS: This study was carried out in tertiary care hospitals, Peshawar from March-October 2014. A total of 234 pregnant women (gestational age >20 weeks) were included in the study with distribution as Preeclampsia (PE=86), Eclampsia (E=74) and control (N=74). Blood was taken for measuring Visfatin level by Enzyme Linked Immunosorbent Assay (ELISA) technique. SPSS version 19 was used for statistical analysis. Student's t test was performed to evaluate the mean differences in patients and control. RESULTS: Serum level of visfatin was significantly higher in pregnancy induced hypertension when compared with control (P value<0.001).: Comparisons of mean value of visfatin with age group of 21-40 years, body mass index (BMI), primary parous and parity 2-4, gestational age of >36 weeks and both systolic and diastolic blood pressure were highly significant in pregnancy induced hypertension when compared with control (p value<0.001). CONCLUSION: Pregnancy induced hypertensive women showed increased level of serum Visfatin than normal pregnant women.

Prevalence of amoebiasis in a model research community and its confirmation using stool antigen elisa for Entamoeba histolytica.

Entamoeba histolytica (E. histolytica) produces an invasive disease called amoebiasis, which commonly produces diarrhea with or without blood in both children and adults, leading to high morbidity and mortality. Entamoeba dispar (E. Dispar) is a non invasive, non pathogenic organism. Both Entamoeba histolytica and Entamoeba Dispar look alike on microscopy and therefore cannot be differentiated unless checked on ELISA, PCR or other specific method. To calculate the actual prevalence of pathogenic amoebiasis in children by comparing the stool microscopy with ELISA stool antigen i.e. gold standard. Across sectional, comparative study. Children under five years in a community village Budhni, District Peshawar. A sample of 288 children aged <5 years were randomly selected. Information's were collected on the age and gender of the children. Fresh stool specimens were examined microscopically and with stool antigen kit of ELISA for detection of Entamoeba histolytica. The specificity and sensitivity of microscopic method was calculated against ELISA. Data was analyzed using statistical computer software package SPSS version 10.0. A total of 288 stool specimens were collected and examined for Entamoeba histolytica. Out of these 36(12.5%) stools were positive for E. histolyticaon microscopy while 14(4.9%) were positive on ELISA. Out of 14 ELISA positive samples, 10 samples were also positive on microscopy while 4 were ELISA positive but microscopy negative. About 22 samples, which were positive on microscopy were negative on ELISA indicating that these samples might have been of E. Dispar which is non pathogenic protozoa. The sensitivity and specificity of microscopic method was 71.4% and 90.5% respectively, as against stool antigen test. Actual prevalence of Entamoeba histolytica is low in the area. Stool ELISA was able to differentiate between pathogenic Entamoeba histolytica and the non-pathogenic Entamoeba dispar and thus can minimize unnecessary antiamoebic treatment in these children.

Frequency of ABO blood groups and RhD factor in the female population of District Peshawar.

OBJECTIVE: To determine the frequency of ABO blood group and Rhesus (Rh) D antigen in the females of "District" Peshawar, Khyber Pakhtunkhwa Province, Pakistan. METHODS: This cross-sectional study was conducted on 429 women having pregnancy induced hypertension, admitted in the three teaching hospitals of Peshawar, over a period of one year. Blood sample was collected from each subject after taking informed consent. The antigen antibody agglutination slide test for "blood grouping (ABO)" and RhD factors was done by using IgM and IgG monoclonal reagents. The antisera used were from Biolaboratory, USA. Data was analyzed for percentage calculation. RESULTS: The blood group distribution was 134 (31.2%), 43 (10.1%), 116 (27%), 136 (31.7%) for blood groups A, AB, O and B, respectively. Subjects having blood group B was slightly more dominant, followed by A and O, while blood group AB was rare in these females. Blood group A Rh negative is more in female 12 (37.5%) followed by group O 10 (31.3%), group B 09 (28.1%) and group AB 01 (3.1%). CONCLUSION: Frequency of "Rh-positive blood group" is B, A, O and AB, whereas the frequency of the most common Rh-negative blood group are A, O, B and AB respectively. The determination of the frequency of blood groups in the region would not only help in blood transfusion services, but also reduce the risk of erythroblastosis foetalis in the neonates.

Prevalence of zinc deficiency among rural women during childbearing age in Peshawar, Pakistan.

Zinc deficiency is a commonly reported health problem throughout the world. This cross sectional survey was conducted in rural Peshawar with an aim to estimate the prevalence of zinc deficiency in women of child bearing age and find its association with age, marital, pregnancy status and parity. Data was collected from 353 women age 15-45 years. EPI INFO version 6.04 was used for data analysis. Overall 98 (27.8 %) women were zinc deficient (<80 µg/dL) while 31 (8.8%) had severe zinc deficiency (<50µg/dL.). Mean zinc level was found to increase gradually with the increase in the age up to 40 years and then starts decreasing significantly beyond this age. A significant decrease (p<0.03) in zinc concentration was found in married as compared to unmarried women. Out of 31 female with severe zinc deficiency, 23 (74.2%) were pregnant. Pregnant women in second (OR (CI) 3.36 (1.52-7.44) p<0.0008) and third ((OR (CI) 3.73 (1.91-7.30) p<0.00002) trimester were 3.4 & 3.7 times, respectively more zinc deficient as compared to control women. Mean zinc levels were significantly lower in women having no children versus women with 1-5 numbers of children. This study concludes that severe zinc deficiency especially prevalent in pregnant women needs urgent correction through food supplementation.

Lipid-based Nutritional Supplement Impact on Energy Intake, Appetite, Glucose and Insulin Levels in Under-Weight Pregnant and Lactating Women with Preeclampsia.

OBJECTIVE: To investigate the response of nutritional supplement (LNS-PLW) on appetite score, energy intake, insulin and glucose levels in preeclamptic women. DESIGN & PARTICIPANTS: Sixty under-weight preeclamptic primigravida were divided into two groups randomly and provided LNS-PLW/Placebo in the fasted state. Blood samples were collected at fasting state, after 30mins of supplementation, "ad libitum buffet" breakfast and lunch for glucose and insulin levels. RESULTS: Total energy intake was higher significantly in the LNS-PLW group, although during breakfast it was significantly reduced. The insulin and glucose concentration was significantly increased after 30min of supplementation in the LNS-PLW group. CONCLUSION: Intake of the LNS-PLW by pre-eclamptic women had short-term suppression on subsequent meal but improved total energy intake during trial.

Abnormal Lipid levels as a risk factor of eclampsia, study conducted in tertiary care Hospitals of Khyber Pakhtunkhwa Province - Pakistan.

OBJECTIVE: To evaluate abnormal lipid metabolism as a risk factor of eclampsia in pregnant women. METHODS: This cross sectional study was conducted in three tertiary care hospitals of Peshawar. Serum total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), very low density lipoprotein cholesterol (VLDL-C), triglyceride (TG), apolipoprotein A1 (APO-A1), APO-B100, lipoprotein-a (Lpa) were measured in 110 women with eclampsia and compared with 90 healthy pregnant women. Mean lipid levels in cases and controls were compared using student's t test". RESULTS: Mean systolic/diastolic blood pressure, TC, TG, VLDL-C and Lpa levels were significantly higher (p<0.001) in patients compared to control women. Similarly TC: HDL-C, LDL-C: HDL-C and TG: HDL-C ratio in the patients group were significantly higher (p<0.001) and HDL-C: VLDL-C ratio was significantly lower (p<0.001) in the patients as compared to control group. Undesirable cholesterol were noted in 35.8% patients, HDL-C in 50.5%, borderline high concentration of LDL-C in 23.6%, high triglycerides levels in 73.2%, undesirable cholesterol ratio in 52.3% and undesirable LDL-C ratio were noted in 82.1% patients of eclampsia. CONCLUSION: Serum lipids were found significantly higher thus early assessment may be helpful in prevention of complications in the eclampsia patients.

Effects of Oral Lipid-Based nutritional supplements on appetite, energy intake, and lipid profile of moderately underweight children.

Oral lipid-based nutritional supplements (LNS) are designed to ensure dietary adequacy and to improve malnourishment in children. Therefore, this study investigated the effects of 4 weeks of LNS on appetite, energy intake, and lipid profile of moderately underweight children (5-10 years old) with BMI-Z score between -2 and - 3 SDS, recruited in a single-blind randomized control trial. In addition to the regular dietary intake, fasting blood samples, anthropometric measurements, energy intake, and appetite responses were obtained before and after 4 weeks of LNS (535 kcal) or PLACEBO (92 kcal). After 4 weeks of supplementation mean energy intake (kcal) (p < .001), body weight (kg) (p < .001), BMI (kg/m2) (p < .01), mid-upper arm circumference (cm) (p < .01), total cholesterol (mg/dl) (p < .01) and fasting glucose (mg/dl) (p < .01) were raised significantly in the LNS group as compared to the PLACEBO group. No significant changes were detected in appetite responses (p > 0.05). In conclusion, LNS increases the overall energy intake, but does not affect the appetite but may induce hyperglycemia and hyperlipidemia.

Evaluation Of Triglycerides Levels In Serum And Tears Of Obese And Non-Obese Normal Adult Humans And Its Effects On Pupillary Response.

BACKGROUND: Triglycerides are a type of storage fat present in serum of both normal and obese individuals. Triglycerides are normally present in human tears. The presence of qualitative fats in the tears affect the pupillary response to the external light stimulus which is measured through portable field dark adaptometer (PFDA) device. The current study was conducted to evaluate the levels of triglycerides in serum and tears of obese and non-obese humans and its relationship with pupillary response. METHODS: This descriptive cross-sectional study was conducted at Institute of Basic Medical Sciences, Khyber Medical University, Peshawar. A total of 500 participants were recruited out of which only 50 qualified for the study as per inclusion criteria. Out of these 50, 25 (50%) were obese and 25 (50%) were non-obese. Serum triglycerides were measured by using Micro lab 300 biochemistry analyzer, while thin layer chromatography was used to detect triglycerides in tear samples.. RESULTS: Triglycerides were detected only in tears of obese individuals. No statistically significant difference was observed in the serum levels of triglycerides between the two groups (p=0.849). CONCLUSIONS: The presence of triglycerides in tears of obese adults caused a low pupillary response as compared to normal individuals.

Efficacy Of Multiple Micronutrients Supplementation On Energy Intake, Calcium And Vitamin D Levels In Underweight Children.

Background: Under-nutrition is a major public health problem worldwide. Several studies have documented the effects of vitamin D and calcium supplements in healthy children and in children with bone abnormalities but the effects of multiple micronutrients supplementation in underweight children is limited in literature. Methods: In this randomized controlled trial 38 participants were recruited and divided into two groups of 19 subjects. On the first day of experimental trial, in fasting state 5cc blood samples were collected from all subjects followed by their anthropometric measurements, and serum levels of calcium and vitamin D. All subjects of one group were given Lipid-based nutritional supplement (LNS) and whereas the other group was given the placebo. After one month of compliance the same measurements were repeated and compared. Results: After one month of supplementation mid-upper arm circumference (p=0.005), weight (p<0.001), height (p=0.000), and BMI-Z score (p=0.002) the energy intake (p<0.001), were significantly increased in LNS as compared to Placebo. However, no improvement was observed in the plasma vitamin D (p=0.44) and calcium levels (p=0.46) of underweight children in both groups. Conclusion: Multi micronutrient supplementations are effective in improving anthropometry in the short duration of time. They also improve the energy intake of underweight children. However, no improvement is observed in levels of vitamin D and calcium in LNS group even after a one-month use.

Relationship Of Serum Visfatin Levels With Serum Electrolytes, Liver Profile, Hepatic Enzymes And Anthropometric Parameters In Pregnant Women With Preeclampsia And Eclampsia During 3rd Trimester.

BACKGROUND: Eclampsia and preeclampsia are among the serious complications of gestation and threaten the lives of both mother and foetus. A protein called visfatin, one of these adipokines, is evaluated for its effects on serum electrolytes, lipid profile and hepatic enzymes in preeclamptic and eclamptic patients. METHODS: A sum of 234 pregnant women were enrolled in this crosssectional study and divided in to 2 main groups, i.e., Group A (eclamptic/preeclamptic) Group B (control) pregnant women respectively. Serum visfatin levels (ng/mL), serum electrolytes and liver enzymes were determined for every patient, using relative diagnostic kits. Anthropometric measurements were also noted. RESULTS: A total of 234 women (cases; n=160, controls; n=74) with gestation age of ≥20 weeks participated in this study. Group A had 86 (36.75%) women with preeclampsia and 74 (31.62%) women with eclampsia whereas Group B had 74 (31.62%) normotensive pregnant women. A strong significantly positive association was recorded for systolic (R2=78.78; p-value <0.000) and diastolic blood pressure (BP) (R2=78.52; p-value <0.000). Similar result was obtained for serum sodium ions (R2=3.09; p-value <0.002) and chloride ions (R2=7.36; p-value <0.000). Alkaline phosphatases (ALP) (R2=63.47; p-value <0.000) had also shown a strong positive and statistically significant association with visfatin levels. CONCLUSIONS: Serum visfatin significantly decreased the sodium and chloride levels whereas the levels of potassium remained unaffected. A very strong and positive association of visfatin levels with levels of bilirubin and alkaline phosphatases was also observed (ALP) but it found no effect on aspartate transferases (AST).

Micronutrient status and energy intake in moderate acute malnourished children after intake of high Energy nutritional supplements for four weeks: a randomized controlled study.

BACKGROUND: Undernutrition including micronutrient deficiency results in adverse health-related outcomes in children of low-medium income countries. This study aims to explore the effect of four weeks of Lipid-based nutritional supplement (LNS) on energy intake, anthropometry and micronutrient status in moderate acute malnourished children. METHODS: Thirty-four children with mean age 7.08±1.47 years and a BMI Z score between -2 and -3 SDS were randomized into LNS and Placebo groups in a single blind randomized control trial. Energy intake, fasting blood samples, and anthropometric measurements were obtained prior to and after four weeks of LNS (535 kcal) or Placebo (92kcal) supplementation in addition to their habitual dietary intake. RESULTS: During four weeks of supplementation, energy intake (kcal) [(611±155) to (987±224), p<0.001)], weight (kg) [(17.5±2.83) to (18.1±3.24), p< 0.001], mid-upper arm circumference (cm) [(14.8±0.91) to (15.1±0.84), p=0.005)] and BMI (kg/m2) [(12.9±0.33) to (13.3±0.45), p=0.002] was significantly improved in the LNS group compared to Placebo. A significant increase in hemoglobin (g/ml) [(12.2±1.14) to (13.7±1.69), p<0.01] and iron levels (µg/dl) [(0.36±0.09) to (0.67±0.20), p<0.001] were observed in the LNS group. No significant differences were detected in the copper and zinc levels. CONCLUSIONS: Lipid-based nutritional supplement is effective in improving energy intake, nutritional outcomes and iron but not copper and zinc. The trial was registered at www.isrctn.com under reference: ISRCTN147181521.

Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families.

Background: Dystrophic Epidermolysis bullosa (DEB) is a rare, severe subtype of epidermolysis bullosa (EB), characterized by blisters and miliary rashes of the skin. Dystrophic EB (DEB) includes variants inherited both in an autosomal-dominant or autosomal-recessive manner. Recessive dystrophic EB (RDEB) is divided into many subtypes and prevails as a result of biallelic genetic mutations in COL7A1 gene encoding type VII collagen, a major stabilizing molecule of the dermo-epidermal junction. The blister formation is mainly due to the variable structural and functional impairment of anchoring fibrils in VII collagen (COLVII), responsible for the adhesion of the epidermis to the dermis. Method: Three Pakistani families (A, B and C) affected with congenital dystrophic epidermolysis bullosa were recruited in the present study. The whole-exome sequencing (WES) approach was utilized for the detection of the pathogenic sequence variants in probands. The segregation of these variants in other participants was confirmed by Sanger sequencing. Results: This study identified a novel missense variant c.7034G>A, p. Gly2345Asp in exon 91, a novel Frameshift mutation c.385del (p. His129MetfsTer18) in a homozygous form in exon no 3, and a previously known nonsense variation (c.1573 C>T; p. Arg525Ter) in exon 12 of COL7A1 gene in families A, B, and C, respectively, as causative mutations responsible for dystrophic epidermolysis bullosa in these families. Conclusion: Our study validates the involvement of the COL7A1 gene in the etiology of dystrophic epidermolysis bullosa. It further expands the COL7A1 gene mutation database and provides an additional scientific basis for diagnosis, genetic counseling, and prognosis purposes for EB patients.