Occurrence of unusual haemoglobinopathies in balochistan: hb sd and hb se - presentation with osteomyelitis / Ocorrência de hemoglobinopatias incomuns no baluchistão: hb sd e hb se - apresentação com osteomielite

ABSTRACT Objective: To describe two cases of unusual variants of sickle cell disease. Case description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

RESUMO Objetivo: Descrever dois casos de variantes raras da hemoglobinopatia falciforme. Descrição do caso: Apresentamos aqui dois casos de hemoglobinopatias variantes das células falciformes, de famílias não relacionadas, no estado do Baluchistão (Paquistão), sendo um diagnosticado como doença da hemoglobina SD na eletroforese de hemoglobina, enquanto o outro com doença da hemoglobina SE. Ambos foram diagnosticados a partir da apresentação de osteomielite. Comentários: Hemoglobina SD (Hb SD) e hemoglobina SE (Hb SE) são hemoglobinopatias raras no mundo. A escassez de literatura disponível sugere que ambas são variantes da doença falciforme (DF) com natureza heterogênea. A prevalência de hemoglobinopatia falciforme com heterozigosidade composta foi encontrada com frequência variável na população do sudeste asiático. A frequência de osteomielite na DF é de 12 a 18%, mas sua ocorrência entre as hemoglobinopatias falciformes variantes é pouco relatada. Os dois casos reportados apresentaram osteomielite como característica de apresentação da doença.

Attachment Styles And Death Anxiety Among Pregnant Women In Pakistan

@#The present study was designed to investigate the attachment styles and death anxiety among pregnant women. In order to meet the study objectives sample of (n=62) was recruited from hospitals of Rawalpindi (i.e., Maryam Memorial and Cantonment Hospital) and Islamabad (i.e., Shifa Medicine Hospital and Poly Clinic). Age range of the sample was 18 to 45 years. Attachment styles were assessed by Experience in Close Relationship Revised-Questionnaire (ECR-R) and death anxiety was assessed with Death Anxiety Scale. The findings revealed that there was significant positive correlation between attachment styles and death anxiety (p<0.05) and it was found that pregnant women scored low on secure attachment style. Younger pregnant women were high on preoccupied, fearful and dismissing attachment style as compare to older age pregnant women. Women with first pregnancy scored high on anxious, dismissing, and fearful attachment style as compare to women with second and third pregnancy. Pregnant women had pregnancy loss feel more death anxiety as compare to pregnant women with no history of pregnancy loss. ASEAN Journal of Psychiatry, Vol. 22 (2): March 2021: 1-10.

Ointment tacrolimus for steroid resistant adenoviral nummular keratitis

@#A 33-year-old man presented with a four-day history of redness and blurring of vision of the right eye. A clinical diagnosis of adenoviral keratitis was made with a differential of microsporidia epithelial keratitis. The patient subsequently developed nummular keratitis which was resistant to topical steroids. He continued to develop multiple recurrences of the condition. Treatment with tacrolimus ointment was started as the patient had an elevated intraocular pressure due to prolonged steroid use. Tacrolimus ointment showed a favourable outcome in the management of recurrent nummular keratitis.

Drug utilization pattern of psychotropic medicines in tertiary care centre of Bastar Region, Chhattisgarh, India

Background: With the changing lifestyle, the incidence of psychiatric illness is increasing day by day. And the mental illnesses not only affect the social and personal life but also adds additional economic burden affecting quality of life of the person. So, proper diagnosis and management of psychiatric illnesses is utmost important. So, keeping this in mind, the present study has been conducted to evaluate drug utilization pattern of psychotropic medicines in tertiary care centre of Bastar region.Methods: After obtaining approval from Institutional Ethics Committee, present study was conducted in 237 patients for a period of 3 months from February 2019 to April 2019. The data of patients attending psychiatry OPD was collected in a structured case record form. The data were analysed using graph pad prism version 6.0.Results: Out of total 237 patients, males 136(57.38%) outnumbered females 101 (42.62%). The major psychiatric illness reported was schizophrenia (45.99%) followed by bipolar affective disorder (16%) and generalized anxiety disorder (14.35%). Average number of psychotropic drugs per prescription was 1.74±1.02. The percentage of drugs prescribed from state Essential drug List (EDL) was 93.05%.Conclusions: Overall, the principles of rational prescribing was tried to be maintained, as polypharmacy has been avoided and most of the drugs were prescribed from the state EDL. The use of generic drugs should be increased to make prescriptions more rational and to cut down the cost of the therapy which may be helpful in increasing the quality of life of the patients.

Glycogen storage disease in pediatric population

Introduction: The pathway of glycogen metabolism is regulated by many hormones such as insulin, glucagon, and corticosteroids. Glycogen storage diseases [GSD] most commonly affect muscles, liver, or both and occur in each 20000 to 43000 live birth. They are classified into 12 subtypes, but types I, II, and IX are the most common

Methodology: We conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE, from January 2001, through February 2017. The following search terms were used: glycogen storage diseases, Von Gierke disease, Pompe's disease, Cori Disease, Forbes disease, Andersen's disease, McArdle disease, neonatal hypoglycemia, neonatal hepatomegaly

Aim: In this review, we aim to study the genetic basis, diagnosis, presentation, and different management approach to various common types of glycogen storage diseases prevalent in pediatric population

Conclusion: There are no cures for any type of glycogen storage diseases presently. Most treatments are designed to control signs and symptoms. The overall goals are primarily avoiding hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Liver transplantation should be deliberated for patients with GSD type IV and for other progressive hepatic types of GSDs in order to avoid hepatic failure or malignancy. More research must be carried out to develop newer and more effective ways of management

Glycogen storage disease in pediatric population

Introduction: The pathway of glycogen metabolism is regulated by many hormones such as insulin, glucagon, and corticosteroids. Glycogen storage diseases [GSD] most commonly affect muscles, liver, or both and occur in each 20000 to 43000 live birth. They are classified into 12 subtypes, but types I, II, and IX are the most common

Methodology: We conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE, from January 2001, through February 2017. The following search terms were used: glycogen storage diseases, Von Gierke disease, Pompe's disease, Cori Disease, Forbes disease, Andersen's disease, McArdle disease, neonatal hypoglycemia, neonatal hepatomegaly

Aim: In this review, we aim to study the genetic basis, diagnosis, presentation, and different management approach to various common types of glycogen storage diseases prevalent in pediatric population

Conclusion: There are no cures for any type of glycogen storage diseases presently. Most treatments are designed to control signs and symptoms. The overall goals are primarily avoiding hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Liver transplantation should be deliberated for patients with GSD type IV and for other progressive hepatic types of GSDs in order to avoid hepatic failure or malignancy. More research must be carried out to develop newer and more effective ways of management

Scavenger receptor class B Type 1 gene polymorphism and the risk of premature coronary artery disease

Background: Coronary artery disease [CAD] is one of the greatest causes of morbidity and mortality worldwide. It is the principal threat to health in countries in Africa and the Middle East and one of the leading causes of disease burden in developing countries. Scavenger receptor class B type1 [SCARB1] is a multiligand cell surface receptor. This membrane protein facilitates the uptake of cholesterol esters from highdensity lipoprotein cholesterol [HDL-C] and drives cholesterol from tissues to the liver in the various stages of reverse cholesterol transport pathway

Aim: The aim of this work is to study the association of rs5888 polymorphism of SCARB1 gene and premature coronary artery disease

Patients and Methods: PCAD group included 50 patients newly diagnosed angiographically with premature coronary artery disease, and non-PCAD group that included 50 age and sex matched non-CAD individuals who showed no luminal stenosis in coronary angiographic results

Results: The frequency of the wild type [CC] was higher in the control group [56%] than patients' group [18%] and it can be considered as a negative risk factor for PCAD [OR: 0.172, 95% CI [0.0693-0.429], p < 0.01]. The homozygous and heterozygous mutations [TT and CT] were statistically more frequently distributed in PCAD patients compared to control subjects [34 % and 48 % respectively], however only the CT genotype was considered as positive risk factor for PCAD [OR: 4.205, 95% CI[1.692-10.448], p= 0.01]

Conclusion: Allele frequencies of studied SCARB 1 SNP revealed a higher frequency of distribution of T alleles in patients' group when compared with control group, on the other hand it shows the higher frequency of distribution of C alleles in control group when compared to patients' group

Socio-economic factors affecting quality of life of Hemodialysis patients and its effects on mortality

Objective: Many factors affect quality of life [QOL] of dialysis patients. This study was conducted to determine the effect of socio-economic factors effecting QOL of hemodialysis patients

Methods: This descriptive multi-centric, follow up study was conducted at Department of Nephrology, Mayo Hospital, Lahore, from February 2015 to August 2017. All patients who were on regular maintenance hemodialysis [MHD] for more than three months and able to read and understand Urdu version of Kidney Disease Quality Of Life [KDQOL] tool were included in the study. Patients were included from hemodialysis units of Mayo Hospital [MH], Shalamar Hospital [SH], and Shaikh Zayed Hospital [SZH], Lahore. Patients with less than three-month duration on dialysis, with cognitive impairment, dementia, active psychosis, non-Urdu readers/speakers were excluded. Demographic data and lab data was collected on predesigned pro forma. Patients were divided into different groups on the basis of education, monthly income, source of funding for treatment and employment. Patients were followed up for two years to determine the effect of QOL on mortality

Results: One hundred and thirty-five patients were included in the study. Socio-economic factors like education, employment, income, funding was compared with KDQOL sub scales and were found statistically significant [p-value [<0.05]. We found that patients with higher income had better work status [p=0.039] but social [0.04] and sexual function [p=0.029] were relatively better in patients with low income. Employed patients had better work status [p=0.01], ability to do social function [p=0.027] but they had more pain [0.049], symptoms/problems of disease [p=0.05] and effect of kidney disease [p=0.015]. Those patients whose dialysis were funded by their family could socially interact [p=0.012] better and deal more efficiently with effect of kidney disease [p=0.007]. Higher education was associated with better emotional well being [p=0.045], patient satisfaction [p=0.046] and staff encouragement [p=0.045] then patient with lower level of education. QOL had no effect on mortality

Conclusion: The socio-economic factors consisting of education, employment, income and funding are important parameters affecting QOL of kidney patients. QOL does not affect mortality of the dialysis patients

Prevalence of intake of dietary supplements in the population of Saudi Arabia- Jeddah

Background: several studies have shown micro-nutrient deficiencies in the Middle East region. Prominent defects in vitamin D, folate, and iron were especially noted. There are not many studies currently that tell us about the prevalence of dietary supplement intake in Saudi Arabia

Aim: the aim was to observe the current prevalence of dietary supplement use in Saudi Arabia. We will also attempt to elicit the reason they take the supplements, and how it affects their overall quality of life

Method: cross-sectional study among 489 Saudi patients was without any exclusion criteria using a standard questionnaire. The study was held at the endocrinology department of King Abdul Aziz Hospital and Oncology Center in Jeddah, Saudi Arabia

Results: the overall prevalence of multivitamin, mineral and supplement intake in the Saudi population was found to be 22%. Among them 16% were male and 24% were female

Conclusion: healthcare providers must spread more awareness about the potential benefits of dietary supplements in preventing non-communicable diseases

Urinary neutrophil gelatinase associated lipocalin as a biomarker of lupus nephritis in adult population

Objective: The purpose of this study was to evaluate the levels of Neutrophil Gelatinase Associated Lipocalin, a tubular stress protein in the urine of diagnosed cases of SLE with and without lupus nephritis

Study design: Cross sectional analytical study

Place and Duration of Study: Department of Biochemistry and Chemical Pathology, Sheikh Zayed Hospital Lahore from January 2015 to January 2016

Materials and methods: Including a total of 84 subjects, 42 cases were SLE without renal involvement and 42 cases were diagnosed cases of SLE with lupus nephritis. The diagnosis of lupus nephritis was established on the basis of renal biopsy

Results: This study revealed that the nephritis group had increased levels of uNGAL along with increased serum creatinine, increased urinary albumin creatinine ratio and decreased creatinine clearance [CG Formula] ascompared to systemic lupus erythematosus patients without having lupus nephritis [p Value <0.05]

Conclusion: These findings clearly indicate that uNGAL levels correlate strongly with the renal components of the disease activity. Thus, it can be stated that uNGAL can prove to be a noninvasive, reliable and sensitive biomarker to diagnose cases of lupus nephritis

Childhood immunization; awareness among pregnant women in Pakistan

Introduction: Childhood immunization remains one of the most important ways of preventing outbreaks of deadly diseases. Even with full-fledged active Expanded programme of immunization [EPI] initiated in Pakistan, the percentage of children getting vaccinated remain far below our required levels. Infant mortality in Pakistan is highest among SAARC countries, which at present stands at 70 deaths per 1,000 live births, according to a report compiled by the Society for the Protection of the Rights of the Child [SPARC]

Objective: This study was carried out to assess mother's education, knowledge and level of awareness of childhood immunization among the pregnant women. Study design: Cross sectional descriptive study. Setting: Jinnah Medical and Dental College Karachi in department of community Health sciences [CHS]. Study period: April 2012 to June 2012

Methods: A total number of Four hundred pregnant [400] women were interviewed in both OPDs and wards of Lady Dufferin Hospital and JMCH Karachi. The questionnaire contained a total of nineteen questions. All of them were self-asked in local language

Results: A significant number of child bearing women [81.5%] had good knowledge and aptitude about childhood immunization and are likely to get their children vaccinated

Conclusion: The higher the people are aware regarding childhood immunization, the more they are likely to get their children vaccinated. The level of awareness invariably correlated with the level of education of pregnant women. This tells us the literacy rate along with efficient immunization campaigns can help us fight against the war of high infant mortality rate against curable diseases

Frequency of anxiety related to dental procedures among professional students

Objective: To determine the frequency of self-reported anxiety levels related to dental procedures amongst professional students using Revised Corah's Dental Anxiety Scale, [DAS-R]

Study Design: A cross sectional study

Place and Duration: Jinnah Medical and Dental College, Karachi and Isra University, Hyderabad from 1[st] October 2010 to 30[th] April 2011

Methodology: A total of 259 professional students comprised the study sample. All those students who consented to participate were scored for anxiety using revised Corah's Dental Anxiety Scale [DAS-R]

Results: Of the total students, we categorized 20.95% as anxious, owing to their DAS scores above 12. From within them, only 20.7 % were finally classified dental phobic, scoring 15 or above on the same scale. Other findings are detailed subsequently in the full text

Conclusion: We found that self-reported -phobic levels were very close to the statistically calculated levels of anxiety score using the standard DAS scoring criteria. Using the same criteria, the actual frequency of phobia in our study was 4.35%

Restorative material of choice for a moderately sized class i cavity in a lower permanent molar

Objective: To study dentist related factors affecting choice of restorative material in a moderately sized, simple class I cavity on a permanent molar

Study Design: Cross sectional / descriptive study

Place and Duration of the Study: This study was carried out at Jinnah Medical and Dental College between February 2015 to July 2015

Materials and Methods: Dentists from public and private sectors were requested to respond to a self administered questionnaire regarding their choice of restorative material for a moderately sized class I cavity in a permanent molar

Results: 66%, 54% and 16% of the dentists graduating in the years 2011-2015, 2006-2010 and 2001-2005 respectively chose amalgam. Whereas, 31%, 35% and and 73% graduating in the same years preferred composite. 38% of the dentists practicing privately and 69% of dentists working in institutional setup selected amalgam.66% of female dentists selected amalgam and 30% chose composite. In contrast, 43% of male dentist selected composite and 44% chose amalgam

Conclusion: The dependable blend of enduring service of amalgam with its cost effectiveness makes amalgam a better choice for posterior teeth in our settings. [Pakistan]

Translation, validation and reliability of the kidney diseases quality of life-short form [KDQOL-SF form] tool in Urdu

Objective: to translate, validate and assess the reliability of kidney disease quality of life - short form [KDQOL-SF-36] in Urdu, national language of Pakistan

Study Design: a multicentric descriptive cross-sectional study

Place and Duration of Study: department of Nephrology, Mayo Hospital, Lahore, from February to July 2015

Methodology: patients of end-stage renal disease [ESRD] on maintenance hemodialysis [MHD] for more than three months were included in the study. Patients of ESRD not on dialysis and those with acute renal failure were excluded. The English version of KDQOL-SF-36 was translated in Urdu and then translated back in English; further validation was done by a senior professor of Punjab University, Lahore

Results: one hundred and thirty patients were included in the study. Fifty patients were from Mayo Hospital, 35 from Shalamar Hospital and 50 from Shaikh Zayed Hospital, Lahore. The internal consistency reliability coefficient for overall scale was 0.84. Twelve sub-scales [symptoms, effect of kidney disease, and burden of kidney disease, cognitive function, and quality of social interaction, sexual function, social support, physical functioning, role physical, pain, emotional wellbeing and role emotional] had more than 0.70 internal consistency reliability coefficients. Overall mean score of the domains i.e kidney disease component score [KDCS], physical component score [PCS], and mental component score [MCS] was 60.62 +/-17.61, 43.12 +/-19.54, and 49.27 +/-14.52, respectively. A significant positive relationship was observed between KDCS and MCS domains, KDCS and PCS domains, PCS, and MCS domains

Conclusion: the Urdu version of KDQOL-SF-36 is a reliable and valid version to measure QOL in kidney disease patients on dialysis in Pakistan

Diagnostic accuracy of diffusion weighted magnetic resonance imaging in the detection of myometrial invasion in endometrial carcinoma

Objective: To determine the diagnostic accuracy of Diffusion-Weighted Magnetic Resonance Imaging [DWMRI] in the detection of myometrial invasion in endometrial cancer taking histopathology as gold standard

Study Design: Cross-sectional validation study

Place and Duration of Study: Department of Radiology, The Aga Khan University Hospital, Karachi, from January to December 2012

Methodology: DWMRI [b-value = 50,400 and 800 s/mm[2]] was performed in 85 patients of biopsy-proven endometrial carcinoma before hysterectomy using body and spine coil at 1.5 Tesla. DWI was evaluated for presence of myometrial invasion by tumor with histopathology as gold standard. Sensitivity, specificity, the negative predictive value and positive predictive value and accuracy of DWI were assessed against the gold standard

Results: On DWI, superficial myometrial invasion was found in 42 patients and deep myometrial invasion in 43. On histopathology, superficial myometrial invasion was found in 53 patients and deep myometrial invasion in 32. Hence sensitivity, specificity, positive predictive value, negative predictive value and accuracy for the assessment of myometrial invasion by endometrial tumor on DW images was 90%, 73%, 67%, 92% and 80%, respectively. Diagnostic accuracy of diffusion-weighted magnetic resonance imaging in detection of myometrial invasion in endometrial cancer was 80%

Conclusion: DWI is highly accurate in assessing myometrial invasion and can be used as an adjunct to routine MRI for pre-operative evaluation of myometrial invasion of endometrial cancer

Solid lipid nanoparticles: an emerging novel drug delivery system

The solid lipid nanoparticles [SLNs], a type of lipid nanoparticles [LNPs], is a special field of interest that has emerged during the last few decades as a potential colloidal carrier delivery system. They have gained great attention in controlling the drug release, increasing the bioavailability and attaining a sustain release profile of entrapped drug substance with fewer side effects as compared to traditional dosage forms. They serve as a promising system in various pharmaceutical fields such as cosmetics, research, clinical medicine and other allied sciences. SLNs have also been identified as a substitute to carrier systems such as liposomes, emulsions and polymeric nanoparticles. In the present review, the structure, advantages and applications of SLNs are focused which would provide an idea of global scenario of SLNs

Socio cultural determinants of low contraceptive use and high unmet needs in married females of Urban Karachi

Objective:To explore knowledge, attitudes and practices regarding contraceptive use in females and to determine the socio cultural barriers that influence contraceptive uptake and contribute to significant unmet needs of family planning

Materials and Methods:This hospital based cross sectional survey was carried out from March 2015 to September 2015 at the Gynaecology and Obstetrics outpatient clinics [OPD] of two hospitals of Karachi, Liaquat National Hospital and PNS SHIFA Hospital. 383 females of age 18-49 years were enrolled after taking informed written consent. Knowledge, attitude and practices on contraception were evaluated with the help of predesigned questionnaire

Results: Mean age of participants was 30.12+ 3.05, youngest being 18 years old, while the eldest was 49 years old. Majority [64%] of the participants were housewives.Knowledge about contraceptive methods was found in 97.1%. Media was found to be main source of information. Regarding contraceptive practices, 48% women were currently using some method of contraception. Among these the most widely used method was condoms [46%]. 52% women were not currently using any method of contraception. Husband and mother in law opposition were found to be the strongest reason for not using any contraception

Conclusion:Inspite of having good knowledge, utilization of contraceptives were less because of preference for a large family norm, religious myths, cultural barriers and family opposition

Learning style preferences of dental students, Karachi

Objective: The prime objective of the study is to determine the learning style preference of dental students in Jinnah Medical and Dental College, Karachi

Study Design: Cross-sectional Descriptive Study

Place and Duration of Study: The study was conducted in Jinnah Medical and Dental College on students of Dentistry, first year through final year. VARK[TM] questionnaire version 7.8[C] was distributed and data was collected between 01 November to 30 November, 2014

Materials and Methods: Total 200 questionnaires were sent out. 160 students who consented to participate in the study were included and those who refused were excluded. Descriptive statistics was used to identify the learning style preferences of the students. The VARK scores were recorded on Excel sheet. Scoring algorithms especially designed for VARK research, available on its website were used for data management and description

Results: 51% of the students [n=82] preferred a uni-modal learning style, of which Aural was the most common. 47% of the dental students [n=75] used all four modes for learning while 2% preferred bi-modal [n=3]. None of the students were tri-modal

Conclusion: In conclusion, majority of students preferred uni-modal followed by the group which preferred all modes of presentation