Exome sequencing identifies homozygous variants in MBOAT7 associated with neurodevelopmental disorder.

Intellectual disability (ID) is a large group of neurodevelopmental disorders characterized by a congenital limitation in intellectual functioning (reasoning, learning, and problem solving), adaptive behavior (conceptual, social, and practical skills), originated at birth and manifested before the age of 18. By whole exome sequencing of five consanguineous Pakistani families presenting hallmark features of ID, global developmental delay, aggressive and self-injurious behaviors, microcephaly, febrile seizures and facial dysmorphic features, we identified three novel homozygous missense variants (NM_024298.5: c.588G > T; p.Trp196Cys, c.736 T > C; p.Tyr246His and c.524A > C; p. Asp175Ala) and one rare homozygous in-frame deletion variant (c.758_778del;p.Glu253_Ala259del) in membrane-bound O-acyltransferase family member 7 (MBOAT7) gene previously associated with autosomal recessive neurodevelopmental disorder. The segregation of the variants was validated by Sanger sequencing in all family members. In silico homology modeling of wild-type and mutated proteins revealed substantial changes in the structure of both proteins, indicating a possible effect on function. The identification and validation of new pathogenic MBOAT7 variants in five cases of autosomal recessive ID further highlight the importance of this genes in proper brain function and development.

Scoping Review: Evaluation of Moringa oleifera (Lam.) for Potential Wound Healing in In Vivo Studies.

Wound healing is a natural process to restore damaged tissues due to loss of tissue integrity. Moringa oleifera (locally known as merunggai in Malaysia) has been traditionally used in various ailments, including for wound management. To evaluate the wound healing properties in M. oleifera, publications were searched and selected following the guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement with predetermined inclusion criteria. The databases searched for primary studies include PubMed, Google Scholar, Science Direct, LILACS, ClinicalTrials.gov, and CENTRAL. In total, 18 in vivo studies were included, which involved the leaves, while the remaining 5 studies involved other plant parts tested on excision, incision, dead space, abrasion, and burn-induced wound models. All studies reported significant wound healing abilities. Most studies used different topical formulations of aqueous leaves extract. The accumulation of collagen content and underlying wound healing mechanism through antimicrobial, antioxidant, and anti-inflammatory activities may be contributed by its bioactive phytochemical content, which has the potential to accelerate the wound contraction, increase the rate of epithelialization, and protect tissues against oxidative damage. In conclusion, M. oleifera showed wound healing potential but further studies are warranted to determine the main bioactive phytocompounds and safety.

Combination of natural antivirals and potent immune invigorators: A natural remedy to combat COVID-19.

The flare-up in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that emerged in December 2019 in Wuhan, China, and spread expeditiously worldwide has become a health challenge globally. The rapid transmission, absence of anti-SARS-CoV-2 drugs, and inexistence of vaccine are further exacerbating the situation. Several drugs, including chloroquine, remdesivir, and favipiravir, are presently undergoing clinical investigation to further scrutinize their effectiveness and validity in the management of COVID-19. Natural products (NPs) in general, and plants constituents specifically, are unique sources for various effective and novel drugs. Immunostimulants, including vitamins, iron, zinc, chrysin, caffeic acid, and gallic acid, act as potent weapons against COVID-19 by reinvigorating the defensive mechanisms of the immune system. Immunity boosters prevent COVID-19 by stimulating the proliferation of T-cells, B-cells, and neutrophils, neutralizing the free radicals, inhibiting the immunosuppressive agents, and promoting cytokine production. Presently, antiviral therapy includes several lead compounds, such as baicalin, glycyrrhizin, theaflavin, and herbacetin, all of which seem to act against SARS-CoV-2 via particular targets, such as blocking virus entry, attachment to host cell receptor, inhibiting viral replication, and assembly and release.

Formulation and evaluation of sustained release ocular inserts of betaxolol hydrochloride using arabinoxylan from Plantago ovata.

The purpose of the current studies was to develop ocular insert of betaxolol hydrochloride (BXH), using arabinoxylan (AX) as a film former. The inserts were prepared by sandwiching I mg of BXH between two films of AX. Six different formulations of ocular inserts were prepared in such a way that first three formulations contained varying concentrations of AX along with glycerol as plasticizer, whereas, rest of the formulations were added with 0.5mg of sodium alginate, sandwiched between two films of AX along with 1mg of BXH. Chemical compatibilities of the ingredients were assessed by using FTIR. Prepared ocular inserts were subjected to various physicochemical characterizations. The dissolution studies showed that ocular inserts containing sodium alginate with the AX showed sustained release effect better than the formulations with AX alone. Addition of sodium alginate resulted in inhibition of sudden release in initial phase and further sustained the release of drug from ocular inserts. Ocular inserts were pH compatible to the eyes as well as there was no interaction among the drug and excipients, suggesting that the selected excipients were suitable for the development of sustained release ocular inserts of BXH.

Neurological Examination Techniques of Speech in Bahasa Malaysia for Adults: Simple Approach Practiced in Hospital Universiti Sains Malaysia.

There are four classification levels for speech disorders namely dysphonia, dysarthria, dysprosody and dysphasia. In general, speech examination mainly focuses on three main components that are spontaneous speech, auditory comprehension, and oral motor examination. Quick bedside assessment on speech in Bahasa Malaysia is essential to assist the speech language therapist (SLT) and other physicians to determine the disorders. Speech therapy is also essential in monitoring and continuous assessment for patients with speech and language disorders such as dysphasia and dysarthria. Speech clinicians in Hospital Universiti Sains Malaysia (HUSM) have been adapting two most widely used batteries of speech assessment tools namely Western aphasia battery-revised (WAB-R) by Andrew Kertesz and Boston diagnostic aphasia examination (BDAE). These tools have been modified into simple and validated speech assessments in Bahasa Malaysia. This video manuscript will demonstrate the use of both tools in performing bedside speech assessment for patients with speech disorders. The Bahasa Malaysia speech examination should not be difficult when WAB-R and BDAE speech assessment tools are applied. The aim of this simple approach using the adapted version of BDAE and WAB-R is to assist the clinician to achieve quick and accurate diagnosis with a validated scoring system.

Evaluation of Progress of an ACGME-International Accredited Residency Program in Qatar.

Background: The American College of Physicians' (ACP) Internal Medicine In-Training Examination (IM-ITE) is designed to evaluate the cognitive knowledge of residents to aid them and program directors in evaluating the training experience. Objective: To determine the impact of the curriculum reform accompanied by the Accreditation Council for Graduate Medical Education (ACGME)-I alignment and accreditation on the internal medicine residency program (IMRP) using residents' performance in the ACP's ITE from 2008 to 2016, and where the IMRP stands in comparison to all ACGME and ACGME-I accredited programs. Methods: This is a descriptive study conducted at a hospital-based IMRP in Doha, Qatar from 2008 to 2016. The study population is 1052 residents at all levels of training in IMRP. The ACP-generated ITE results of all the United States and ACGME-I accredited programs were compared with IM-ITE results in Qatar. These results were expressed in the total program average and the ranking percentile. Results: There is a progressive improvement in resident performance in Qatar as shown by the rise in total average program score from 52% in 2008 to 72% in 2016 and the sharp rise in percentile rank from 3rd percentile in 2008 to 93rd percentile in 2016 with a dramatic increase during the period 2013 to 2014 (from 32nd percentile to 73rd percentile), which represents the period of ACGME-I accreditation. None of the factors (ethnicity, USMLE or year of residency) were statistically significant with a p value >0.05 and standard coefficient ( - 0.017-0.495). There was negligible correlation between the USMLE test scores with the residents' ITE scores with a p value = 0.023 and a Pearson correlation r = 0.097. Conclusion: The initial ACGME-I alignment followed by the accreditation, together with whole curriculum redesign to a structured, competency-based program starting from 2008, has led to an improvement in the ITE scores in the IMRP. This was further evidenced by the lack of change in the residency entry selection criteria.

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Oculocutaneous albinism (OCA) is an autosomal-recessive disorder of a defective melanin pathway. The condition is characterized by hypopigmentation of hair, dermis, and ocular tissue. Genetic studies have reported seven nonsyndromic OCA genes, among which Pakistani OCA families mostly segregate TYR and OCA2 gene mutations. Here in the present study, we investigate the genetic factors of eight consanguineous OCA families from Pakistan. Genetic analysis was performed through single-nucleotide polymorphism (SNP) genotyping (for homozygosity mapping), whole exome sequencing (for mutation identification), Sanger sequencing (for validation and segregation analysis), and quantitative PCR (qPCR) (for copy number variant [CNV] validation). Genetic mapping in one family identified a novel homozygous deletion mutation of the entire TYRP1 gene, and a novel deletion of exon 19 in the OCA2 gene in two apparently unrelated families. In three further families, we identified homozygous mutations in TYR (NM_000372.4:c.1424G > A; p.Trp475*), NM_000372.4:c.895C > T; p.Arg299Cys), and SLC45A2 (NM_016180:c.1532C > T; p.Ala511Val). For the remaining two families, G and H, compound heterozygous TYR variants NM_000372.4:c.1037-7T > A, NM_000372.4:c.1255G > A (p.Gly419Arg), and NM_000372.4:c.1255G > A (p.Gly419Arg) and novel variant NM_000372.4:c.248T > G; (p.Val83Gly), respectively, were found. Our study further extends the evidence of TYR and OCA2 as genetic mutation hot spots in Pakistani families. Genetic screening of additional OCA cases may also contribute toward the development of Pakistani specific molecular diagnostic tests, genetic counseling, and personalized healthcare.

Frequency of urinary tract infection and antibiotic sensitivity of uropathogens in patients with diabetes.

OBJECTIVE: To determine the frequency of urinary tract infections and antibiotic sensitivity among patients with diabetes. METHODS: This observational study was carried out in Microbiology Department of Baqai Institute of Diabetology and Endocrinology (BIDE), Baqai Medical University from April 2015 to June 2016. All patients with diabetes having symptoms of UTI attending out patients department of BIDE were analyzed. All samples received in the laboratory were processed according to Clinical and Laboratory Standards Institute (CLSI) guidelines. Antimicrobial susceptibility pattern was determined by disc diffusion method. RESULTS: A total number of 199 urine specimens, frequency of UTI were 24 (12.06%) in male and 175 (87.94%) in female. UTIs were highly found in (age group 51-60) 70 (35.18%). Escherichia coli was the most frequent pathogen (71%), followed by Klebsiellapneumoniae (7.48%), Proteus mirabilis (1.87%), Staphylococcus aureus (9.35%), Candida (5.61%) and Candidaalbicans were (2.80%). Majority of gram negative uropathogens were shown high sensitivity towards Imipenem and Piperacillin / Tazobactam followed by Nitrofurantion, Ceftriaxone, Levofloxacin, Ofloxacine, Ciprofloxacin, Norfloxacin, Cefixime, Nalidixic acid and Cephradine. Gram positive was most sensitive to Nitrofurantionand Vancomycin followed by Piperacillin / Tazobactam, Imipenem, Cephradine, Ceftriaxone, Norfloxacin and Cefixime. CONCLUSION: We observed the higher frequency of UTIs in female as compared to male participants due to poor hygiene. E.coli was the most frequent pathogen responsible for UTI in patients with diabetes, followed by Staphylococcus aureus.

Impact of weather conditions on childhood admission for wheezy chest and bronchial asthma.

Background: Climate change represents a possible threat to patients with bronchial asthma. The purpose of this study was to investigate any association between specific meteorological conditions and the rate of hospital admission for bronchial asthma and wheezy chest. Methods: A retrospective study was conducted to observe the effects of changes in some meteorological variables on children aged 1-13 years with bronchial asthma and wheezy chest. Data were obtained from hospital registries for the study period involving all patients admitted with the diagnosis of wheezy chest and bronchial asthma. The meteorological data were obtained from the Iraqi World Meteorological Organization and Seismology and consisted of the mean monthly values of humidity, rain, temperature, dust, wind, and thunderstorms. The correlation between the mean monthly admission for bronchial asthma and changes in weather variables were investigated. Results: There were 1043 admissions for asthma or wheezy chest (7.76%). Out of all asthma cases, 75% (n=783) were 1-5 years, while 25% (n=260) were 6-13 years. Male patients predominate 67.8%, with a male to female ratio of 2:1. Hospital admissions for asthma and wheezy chest showed a seasonal variation especially for younger children. Higher monthly admission rates were associated with high relative humidity, rain, increase in wind speed, and lower temperature, whereas rising dust and thunderstorms did not show notable effects on children's admission for asthma. Conclusion: The findings suggested that changes in weather conditions, especially high relative humidity and cold weather, may trigger asthma attacks especially in younger children, and thus protective measures are recommended for at risk children.

Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

Oculocutaneous albinism (OCA) is a disorder of defective melanin biosynthesis that is characterized by hypo-pigmentation of skin, hair and retinal pigment epithelium. Phenotypically, OCA patients exhibit white milky skin, whitish to golden hair and deterioration of retinal cells. Until recently, genetic studies have reported seven causative genes (TYR, TYRP1, OCA2, SLC45A2, SLC24A2, C10ORF11 and MCIR) and an uncharacterized OCA5 locus. Herein we present the medico-genetic study of three Pakistani patients inheriting autosomal recessive OCA. Whole exome sequencing, followed by Sanger DNA sequencing for segregation analysis, revealed recurrent mutations c.346C>T (p.Arg116*) and c.1255G>A (p.Gly419Arg) (family A and B respectively) in TYR gene, while the patient from family C did not reveal any known gene mutation, which suggests the involvement of some novel genetic factor. It is the first report of mapping c.346C>T mutation in a Pakistani patient. Our study further extends the evidence of genetic hotspots regions in TYR gene causing OCA in Pakistani population.

Outcomes of intravitreal bevacizumab and macular photocoagulation for treatment of diabetic macular edema in a tertiary care eye hospital, Karachi.

OBJECTIVE: To study the outcomes of intravitreal injection of Bevacizumab and laser photocoagulation in the treatment of diabetic macular edema (DME). METHODS: Seventy-two eyes of 59 patients with diabetic macular edema were divided into two groups of 41 eyes (Group-A) and 31 eyes (Group-B). Subjects in group-A were treated with three intravitreal injections of Bevacizumab (IVB), and that of group-B with macular photocoagulation. Duration of study was 9 months. Follow up pattern for both groups was1, 2, 3 and 6 months. Best Corrected Visual acuity on log MAR (BCVA) for distance as well as near in each visitwas recorded. Retinal OCT for central macular thickness (CMT) was performed on baseline. SPSS version 20.0 was used to analyze the data. RESULTS: Mean age of the patients was 53.76 ± 8.82 ranging to 36-71 years. Out of 59 patients, 40 (67.8%) were male and 19 (32.2%) female. It was observed that the difference of results among both groups was not significant. Fig.2 documents visual acuity recorded as Improved; Stable and Worse. CONCLUSION: The improvement in BCVA was significant at 6 months in both treatments. The final improvements in BCVA has been almost similar between both the treatment groups although it was noted that IVB group showed early improvement in BCVA at follow-ups of 1 and 3 months. A long term follow-up is required in these cases to see the effect of both these treatment strategies.

Visual outcome after phacoemulsification with lens implant in diabetic and non-diabetic patients; A comparative study.

OBJECTIVE: To compare the visual outcomes of phacoemulsification surgery with intraocular lens (IOL) in persons with and without diabetes at end of follow-up. METHODS: This was a comparative, cross sectional, observational study with Non-probability, purposive sampling. After approval from "Research Ethical Committee of Isra Post-graduate Institute of Ophthalmology Karachi, 92 patients with cataract in one eye were selected. Patients were divided into two groups. Group A consisted of 48 diabetics and group B consisted of 44 non- diabetics with or without diabetes in the age group ≥ 30 years were included. Patients with small Pupil, Pseudo exfoliation Syndrome, Diabetic Retinopathy, and positive history of Uveitis, Glaucoma, and Macular Degeneration were excluded. Data analysis was performed by SPSS Version 20.0. RESULTS: Best Corrected Visual Acuity (BCVA) in diabetic patients improved from 0.813 ± 0.181 Log MAR pre operatively to 0.183 ± 0.143 after the period of six months post-operatively. Corresponding results in non-diabetics were 0.66 ± 0.31 and 0.08 ± 0.092 Log Mar (P value = 0.001). If WHO criteria was considered, 87.5% diabetics and 92% non-diabetics achieved normal vision (Log Mar 0 to 0.5; ≥ 6/12,) on the first post-operative day. Remaining 12.5% diabetics and 8% non-diabetics achieved moderate vision (0.6 to 1 Log MAR) on first post-operative day improving to normal vision within a week. CONCLUSION: Visual outcomes in diabetics after phacoemulsification with intra ocular lens implant is almost as good as that in non-diabetic patient if the diabetics have no retinopathy and have good glycemic control.

A new dispersive liquid-liquid microextraction using ionic liquid based microemulsion coupled with cloud point extraction for determination of copper in serum and water samples.

A simple and rapid dispersive liquid-liquid microextraction procedure based on ionic liquid assisted microemulsion (IL-µE-DLLME) combined with cloud point extraction has been developed for preconcentration copper (Cu(2+)) in drinking water and serum samples of adolescent female hepatitits C (HCV) patients. In this method a ternary system was developed to form microemulsion (µE) by phase inversion method (PIM), using ionic liquid, 1-butyl-3-methylimidazolium hexafluorophosphate ([C4mim][PF6]) and nonionic surfactant, TX-100 (as a stabilizer in aqueous media). The Ionic liquid microemulsion (IL-µE) was evaluated through visual assessment, optical light microscope and spectrophotometrically. The Cu(2+) in real water and aqueous acid digested serum samples were complexed with 8-hydroxyquinoline (oxine) and extracted into IL-µE medium. The phase separation of stable IL-µE was carried out by the micellar cloud point extraction approach. The influence of of different parameters such as pH, oxine concentration, centrifugation time and rate were investigated. At optimized experimental conditions, the limit of detection and enhancement factor were found to be 0.132 µg/L and 70 respectively, with relative standard deviation <5%. In order to validate the developed method, certified reference materials (SLRS-4 Riverine water) and human serum (Sero-M10181) were analyzed. The resulting data indicated a non-significant difference in obtained and certified values of Cu(2+). The developed procedure was successfully applied for the preconcentration and determination of trace levels of Cu(2+) in environmental and biological samples.

Correlation of cadmium and aluminum in blood samples of kidney disorder patients with drinking water and tobacco smoking: related health risk.

The combined exposure to aluminum (Al) and cadmium (Cd) causes more pronounced adverse health effects on humans. The kidneys are the main organs affected by internal exposure to Cd and Al via food and non-food items. The objective of present study was to measure the Al and Cd concentrations in cigarettes tobacco (branded and non-branded) and drinking water (domestic treated, ground and lake water) samples in southern part of Pakistan, to assess the risk due to ingestion of water and inhalation of cigarettes smoke containing high concentrations of both elements. The study population (kidney disorder and healthy) divided into two group based on consuming lake and ground water, while smoking non-branded cigarette as exposed, while drinking domestic treated water and smoking branded cigarette as non-exposed. Electrothermal atomic absorption spectrometry was used to determined Cd and Al concentrations in tobacco, drinking water and blood samples. The resulted data indicated that the levels of Al and Cd in lake and underground water were higher than the permissible limit in drinking water recommended by the World Health Organization. The biochemical parameters of exposed and referent patients, especially urinary N-acetyl-h-glucosaminidase, were used as a biomarkers of kidney disorder. Exposed kidney disorder patients have higher levels of Cd and Al than the exposed referents subjects, while difference was significant when compared to resulted data of non-exposed patients and referents (p = 0.01-0.001). The pearson correlation showed positive correlation between both toxic element concentrations in water, cigarettes versus blood samples of exposed subjects (r = 0.20-0.67 and 0.71-0.82), while lower values were observed for non-exposed subjects (r = 0.123-0.423 and 0.331-0.425), respectively.

Scalp hair and blood cadmium levels in association with chewing gutkha, mainpuri, and snuff, among patients with oral cancer in Pakistan.

BACKGROUND: It has been reported that smokeless tobacco (SLT) chewing can lead to caners of oral cavity. In this study, the relationship between cadmium exposure via consumption of different SLT products by patients with oral cancer with related to referents belongs to different cities of Pakistan are investigated. METHODS: The cadmium in different types of SLT products (gutkha, mainpuri and snuff) consumed by studied population and biological samples (scalp hair and blood) of cancerous and healthy subjects were analyzed. Both referents and patients with cancer have same age group (ranged 30-60 years), socioeconomic status, localities, and dietary habits. The concentrations of cadmium in SLT products and biological samples were measured by electrothermal atomic absorption spectrophotometer after microwave-assisted acid digestion. The validity and accuracy of the methodology were checked by certified reference materials. RESULTS: It was estimated that 10 g intake of different types of gutkha, mainpuri, and snuff could contribute, 18-40%, 15.7-33.6%, and 14-68% of the provisional maximum tolerable daily intake of cadmium, respectively for adults (60 kg). The results of present study showed that the mean value of cadmium was significantly higher in scalp hair and blood samples of patients with oral cancer as compared to those results obtained for referents (P < 0.001). CONCLUSIONS: The high exposure of cadmium due to consuming different SLT products may have synergistic effects with other risk factors associated for oral cancer.

Comparative evaluation of essential and toxic elements in the blood of kidney failure patients and healthy referents.

The aim of the present study was to evaluate the comparative distribution, correlation, and apportionment of selected elements-aluminum (Al), calcium (Ca), cadmium (Cd), potassium (K), magnesium (Mg), sodium (Na), and lead (Pb)-in the blood samples of male kidney failure patients (KFP) and healthy subjects of age ranged 30-60 years. The blood samples were digested with nitric acid and perchloric acid mixture (2:1), followed by the quantification of elements by atomic absorption spectrometry. The concentration of essential elements in blood samples of KFP were found in the range of Ca (97-125), Mg (18-36), Na (2971-3685), and K (177-270) mg/L while, the levels of Al, Cd, and Pb were found in the range of (475-1275), (0.9-9.9), and (211-623) µg/L, respectively. In the healthy referents, concentration of electrolytes in blood samples was lower than KFP, but difference was not significant (p > 0.05). While the levels of toxic elements in blood samples of referents were three- to sixfold lower than KFP (p < 0.01). Principal component analysis (PCA) and cluster analysis (CA) of the element data manifested diverse apportionment of the selected elements in the blood sample of the KFP compared with the healthy counterparts.

Preconcentration and determination of lead and cadmium levels in blood samples of adolescent workers consuming smokeless tobacco products in Pakistan.

The present study was aimed to evaluate the cadmium (Cd) and lead (Pb) levels in the blood samples of adolescent boys, chewing different smokeless tobacco (SLT) products in Pakistan. For comparative purpose, boys of the same age group (12-15 years), not consumed any SLT products were selected as referents. To determine trace levels of Cd and Pb in blood samples, a preconcentration method, vortex-assisted liquid-liquid microextraction (VLLME) has been developed, prior to analysis by flame atomic absorption spectrometry. The hydrophobic chelates of Cd and Pb with ammonium pyrrolidinedithiocarbamate were extracted into the fine droplets of ionic liquid (IL) 1-butyl-3-methylimidazolium hexafluorophosphate, while nonionic surfactant, Triton X-114 was used as a dispersing medium. The main factors affecting the recoveries of Cd and Pb, such as concentration of APDC, centrifugation time, volume of IL and TX-114, were investigated in detail. It was also observed that adolescent boys who consumed different SLT products have 2- to 3-fold higher levels of Cd and Pb in their blood samples as compared to referent boys (p < 0.001).

Assessment of selenium and mercury in biological samples of normal and night blindness children of age groups (3-7) and (8-12) years.

The causes of night blindness in children are multifactorial and particular consideration has been given to childhood nutritional deficiency, which is the most common problem found in underdeveloped countries. Such deficiency can result in physiological and pathological processes that in turn influence biological sample composition. This study was designed to compare the levels of selenium (Se) and mercury (Hg) in scalp hair, blood, and urine of night blindness children age ranged (3-7) and (8-12) years of both genders, comparing them to sex- and age-matched controls. A microwave-assisted wet acid digestion procedure was developed as a sample pretreatment for the determination of Se and Hg in biological samples of night blindness children. The proposed method was validated by using conventional wet digestion and certified reference samples of hair, blood, and urine. The Se and Hg in biological samples were measured by electrothermal atomic absorption spectrometry and cold vapor atomic absorption spectrometry, prior to microwave acid digestion, respectively. The concentration of Se was decreased in scalp hair and blood samples of male and female night blindness children while Hg was higher in all biological samples as compared to referent subjects. The Se concentration was inversely associated with the risk of night blindness in both genders. These results add to an increasing body of evidence that Se is a protecting element for night blindness. These data present guidance to clinicians and other professional investigating deficiency of essential micronutrients in biological samples (scalp hair and blood) of night blindness children.

PCR/RFLP-based analysis of genetically distinct Plasmodium vivax population of Pvmsp-3α and Pvmsp-3ß genes in Pakistan.

BACKGROUND: Plasmodium vivax is one of the widespread human malarial parasites accounting for 75% of malaria epidemics. However, there is no baseline information about the status and nature of genetic variation of Plasmodium species circulating in various parts of Pakistan. The present study was aimed at observing the molecular epidemiology and genetic variation of Plasmodium vivax by analysing its merozoite surface protein-3α (msp-3α) and merozoite surface protein-3ß (msp-3ß) genes, by using suballele, species-specific, combined nested PCR/RFLP detection techniques. METHODS: A total of 230 blood samples from suspected subjects tested slide positive for vivax malaria were collected from Punjab, Sindh, Khyber Pakhtunkhwa, and Balochistan during the period May 2012 to December 2013. Combined nested PCR/RFLP technique was conducted using Pvmsp-3α and Pvmsp-3ß genetic markers to detect extent of genetic variation in clinical isolates of P. vivax in the studied areas of Pakistan. RESULTS: By PCR, P. vivax, 202/230 (87.82%), was found to be widely distributed in the studied areas. PCR/RFLP analysis showed a high range of allelic variations for both msp-3α and msp-3ß genetic markers of P. vivax, i.e., 21 alleles for msp-3α and 19 for msp-3ß. Statistically a significant difference (p ≤ 0.05) was observed in the genetic diversity of the suballelic variants of msp-3α and msp-3ß genes of P. vivax. CONCLUSION: It is concluded that P. vivax populations are highly polymorphic and diverse allelic variants of Pvmsp-3α and Pvmsp-3ß are present in Pakistan.

Distribution of potassium, calcium, magnesium, and sodium levels in biological samples of Pakistani hypertensive patients and control subjects.

BACKGROUND: The abnormal metabolism of metal ions plays an important role in health and disease conditions, and studies about them have been attracting significant interest. The aim of our study was to assess the essential minerals (calcium (Ca), magnesium (Mg), potassium (K), and sodium (Na)) in biological samples (scalp hair, blood, urine) of 387 hypertensive males and females, age 30-60 years, in an urban population together with 439 non-hypertensive subjects of same age group and residential areas. METHODS: The element concentrations were measured by means of an atomic absorption spectrophotometer after microwave-induced acid digestion. The validity and accuracy was checked by conventional wet acid digestion method and using certified reference materials. The overall recoveries of all elements were found in the range of 99.1-99.9% of certified values. RESULTS: The results indicated significantly lower levels of Ca, Mg, and K in the biological samples (blood and scalp hair) of hypertensive patients, when compared to controls of both genders. The level of Na was found to be high in biological samples of hypertensive patients as compared to controls. CONCLUSIONS: The deficiency of Ca, Mg, and K may be synergistic with risk factors associated with hypertension. These data present guidance to clinicians and other professionals who will be investigating the deficiency of essential micronutrients in biological samples (scalp hair and blood) of hypertensive patients.