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1.
Singapore Med J ; 2023 Aug 23.
Artigo em Inglês | MEDLINE | ID: mdl-37675678

RESUMO

Introduction: The management of acute appendicitis is a matter of debate even in contemporary era. Non-operative management is proposed as a valid treatment option for acute appendicitis in children. Methods: A prospective cohort study was conducted from April 2020 to September 2021 at the National Institute of Child Health, Jinnah Sindh Medical University, Karachi, Pakistan, in children aged ≤ 12 years who were suspected of having acute appendicitis. Children with diffuse peritonitis and complex mass on ultrasonography were excluded. All children were kept nil per oral and started on intravenous fluid hydration and antibiotics. Statistical analyses were performed using IBM SPSS version 20. Chi-square test and Fisher's exact test were applied to determine the statistical significance. Results: A total of 190 patients were admitted with a diagnosis of acute appendicitis. Thirty-two children with advanced disease underwent surgery. The remaining 158 patients were managed with nonoperative treatment. In 138 (87.3%) patients, resolution of symptoms occurred. Twenty (12.7%) patients underwent operation during the same admission (non-responders). Thirteen (9.4%) patients had recurrence of symptoms and underwent appendectomy. A total of 33 (20.9%) patients had appendectomy either at the primary admission or after discharge. Non-operative treatment was more likely to be successful in patients with symptoms of ≤ 24 h duration (P = 0.02), total leucocyte count of <12 × 109 cells/L (P = 0.005) and smaller size of the appendix on ultrasound (P = 0.001). Conclusion: Among children with uncomplicated acute appendicitis, a non-operative approach resulted in resolution of symptoms in 87.3% of patients at the initial admission. Failure of non-operative treatment and recurrence of disease after discharge from the hospital occurred in 9.4% of patients after successful initial treatment. Thus, the overall success rate at a mean follow-up of 3 months was about 78%.

2.
Singapore Med J ; 2023 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-37721303

RESUMO

Introduction: Testicular tumours in childhood have diverse characteristics for different age ranges. This study aimed to describe the pattern, presentation and outcomes of primary testicular tumours in a paediatric population. Methods: A retrospective study was conducted from January 2010 to December 2020 on children (≤18 years) with a diagnosis of primary testicular tumour. Baseline demographics, clinical characteristics, pathology, treatment and outcomes of these patients were analysed. The data were entered into IBM SPSS Statistics version 20.0. Chi-square test and Fisher's exact test were applied to find the statistical significance, which was set at P value ≤ 0.05. Results: The study included 115 males, with 85 (73.9%) patients in the prepubertal age range with a mean age of 2.53 ± 2.06 years and 30 (26.1%) patients in the postpubertal group with a mean age of 15.73 ± 1.25 years. Yolk sac tumour was the most common (62.6%) histological subtype. Majority (46.1%) of patients had stage I disease on presentation, while 29.6% had stage IV disease. All patients underwent upfront high inguinal radical orchiectomy, which was followed by platinum-based adjuvant chemotherapy in 67% of the patients. The five-year event-free survival and overall survival for all patients were 75% and 91%, respectively. Conclusion: Primary testicular tumours follow a bimodal age distribution pattern. Majority of patients can be cured with platinum-based chemotherapy despite having advanced disease at presentation.

3.
Heliyon ; 9(8): e18344, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37520977

RESUMO

This study provides techno-economical insights for acid regeneration and metal recovery from spent acidic wastewater by a diffusion dialysis plate-and-frame module using Quaternized Polyepichlorohydrin - Polyacrylonitrile (QPECH-PAN) membranes. Quaternized Polyepichlorohydrin (QPECH) membranes were synthesized using 1,4-diazobicyclo[2.2.2]octane (DABCO) and blended with polyacrylonitrile (PAN). Said membranes were analyzed in terms of their mechanical, physicochemical, and electrochemical characteristics, providing significant results comparable to the commercial membranes (IEC: 1.76 mmol/g, SD: 60.91%, Permselectivity: 79.5 ± 0.31%, and transport no. t(-): 0.5). Mechanical characterization reveals that the QPECH-PAN membranes possess comparable mechanical strengths (tensile strength: 329.56 MPa). Further, sheet resistivity (6.11 Ω cm2) and conductivity (0.16 S/cm2) reveal the relative conductive nature of these membranes. Percent acid recovery and metal ion recovery ratios were found to be 72% and 48% respectively, and separation factors were 126.8 and 84.57 respectively. The QPECH-PAN membrane's techno-economic feasibility was also analyzed within the context of a textile industry processing up to 5500 kg/d of acidic wastewater. It indicates a potential cost saving of US $0.53 million on H2SO4 and NaOH, as well as an OPEX saving of 40.91% against a semi-continuous acid neutralizer.

4.
Heliyon ; 9(3): e13872, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36938462

RESUMO

In this review, the importance of a robust frame work for drinking water quality monitoring, assessment and management has been discussed. This review presents the global overview of the drinking water quality, illuminating the global challenges of water supply system from catchment to consumers and briefly discussing appropriate regulatory frameworks and risk analysis tools. It also presents meticulous summaries of water reports released by the government and non-governmental organizations with special emphasis on health-based targets, proposed strategies related to preventive risk management (through water safety planning), environmental impact assessment (EIA), and independent surveillance in Pakistan. This paper reviews various studies published in national and international journals and reports, released by the government and non-governmental organizations, to provide a summary of the current knowledge with regards to the contemporary water quality management system that is still developing in the country. Role of agencies and their policies for water quality management and monitoring is one of the most important impact categories that has been covered in this review. The reviewed publications provide strong support for claims that impacts of unsafe water on health and economy of a country are very dangerous. Improved access to safe drinking water by a development-oriented strategy can have tangible improvements in socioeconomic status of a country.

5.
Chem Zvesti ; 77(4): 2275-2294, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36589858

RESUMO

In this study an efficient and environment friendly electrochemical sensor has been designed for the analysis of acetaminophen (APAP) drug. Electrochemical impedance spectroscopy, differential pulse voltammetry and cyclic voltammetric techniques were used to demonstrate the fabricated erGO/GCE sensor performance. Voltammetric assessment of acetaminophen drug was done using bare GC electrode, drop-casted GO/GC electrode and erGO/GCE electrochemical sensor. Proposed sensor was precisely validated for APAP detection by differential pulse voltammetric technique. Subsequently LOD, LOQ, sensitivity and linearity were determined and found to be 7.23 nM, 21.909 nM, 20.14 µA nM-1 cm-2 and 0.0219-2.30 µM, respectively. The diffusion coefficient of APAP was determined by chronoamperometry, and it was found to be 2.24 × 10-5 cm2.s-1. The synthetic and analytical steps were assessed as per the Green Chemistry's 12 Principles giving a 66 score (acceptable) and 93 score (excellent) for the said steps, respectively. Supplementary Information: The online version contains supplementary material available at 10.1007/s11696-022-02628-9.

6.
Genes Genomics ; 45(2): 145-156, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36472766

RESUMO

BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spectrum of onset ages and severity. DFNB genes are very diverse in their types and functions, making molecular diagnosis difficult. DFNB is particularly frequent in Pakistan, which may be partly due to consanguinity. OBJECTIVE: This study was performed to determine the genetic causes in Pakistani DFNB families with prelingual onset and to establish genotype-phenotype correlation. METHODS: Whole exome sequencing and subsequent genetic analysis were performed for 11 Pakistani DFNB families including eight consanguineous families. RESULTS: We identified eight pathogenic or likely pathogenic mutations in LOXHD1, GJB2, SLC26A4, MYO15A, and TMC1 from six families. The GJB2 mutations were identified in two families each with compound heterozygous mutations and a homozygous mutation. The compound heterozygous mutations in LOXHD1 ([p.D278Y] + [p.D1219E]) and GJB2 [p.M1?] + [p.G12Vfs*2]) were novel. The four missense or start-loss mutations were located at well conserved residues, and most in silico analysis predicted their pathogenicity. In addition to causative mutations, we found compound heterozygous mutations in PTPRQ as variants of uncertain significance. CONCLUSION: This study identified biallelic mutations as the underlying cause of early onset DFNB in six Pakistani families. This study will be helpful in providing an exact molecular diagnosis and treatment of prelingual onset deafness patients.


Assuntos
Surdez , Humanos , Paquistão , Surdez/genética , Mutação , Homozigoto , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/genética
7.
Nanomaterials (Basel) ; 12(16)2022 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-36014692

RESUMO

To meet the current challenges concerning the removal of dyes from wastewater, an environmentally friendly and efficient treatment technology is urgently needed. The recalcitrant, noxious, carcinogenic and mutagenic compound dyes are a threat to ecology and its removal from textile wastewater is challenge in the current world. Herein, biochar-mediated zirconium ferrite nanocomposites (BC-ZrFe2O5 NCs) were fabricated with wheat straw-derived biochar and applied for the adsorptive elimination of Tartrazine dye from textile wastewater. The optical and structural properties of synthesized BC-ZrFe2O5 NCs were characterized via UV/Vis spectroscopy, Fourier transform Infra-red (FTIR), X-Ray diffraction (XRD), Energy dispersive R-Ray (EDX) and Scanning electron microscopy (SEM). The batch modes experiments were executed to explore sorption capacity of BC-ZrFe2O5 NCs at varying operative conditions, i.e., pH, temperature, contact time, initial dye concentrations and adsorbent dose. BC-ZrFe2O5 NCs exhibited the highest sorption efficiency among all adsorbents (wheat straw biomass (WSBM), wheat straw biochar (WSBC) and BC-ZrFe2O5 NCs), having an adsorption capacity of (mg g-1) 53.64 ± 0.23, 79.49 ± 0.21 and 89.22 ± 0.31, respectively, for Tartrazine dye at optimum conditions of environmental variables: pH 2, dose rate 0.05 g, temperature 303 K, time of contact 360 min and concentration 100 mg L-1. For the optimization of process variables, response surface methodology (RSM) was employed. In order to study the kinetics and the mechanism of the adsorption process, kinetic and equilibrium mathematical models were used, and results revealed 2nd order kinetics and a multilayer chemisorption mechanism due to complexation of hydroxyl, Fe and Zr with dyes functional groups. The nanocomposites were also recovered in five cycles without significant loss (89 to 63%) in adsorption efficacy. This research work provides insight into the fabrication of nanoadsorbents for the efficient adsorption of Tartrazine dye, which can also be employed for practical engineering applications on an industrial scale as efficient and cost effective materials.

8.
Pak J Pharm Sci ; 35(2): 435-440, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35642397

RESUMO

In elderly aged people, Parkinson's disease is reported as 2nd most prevailing neuro-degenerative disease. Presently benzothiazole derivatives are gaining attention after showing positive results in various animal models for the investigation of different motor-diseases. In Current work, the 2- (2 Thienyl)Benzothiazoline is synthesized and its therapeutic effect was evaluated against rotenone-induced Parkinson's disease. It was expected to obtain the positive results in the treatment because thiophen group has been successfully reported in various literature as effective agent in the treatment of cognitive and locomotory disease. So, we used a Parkinson's inducive compound rotenone and injectedit intraperitoneally. The dose that we were used was 1.5mg/kg and treatment proceeded for 8 days in rats as rotenone inhibit the functioning of mitochondrial complex I. Administration of 2- (2 Thienyl)Benzothiazoline (10mg/kg per day) was already started 15 days prior to rotenone dose injection. The effects of both pre-treatment and without pre-treatment of 2- (2 Thienyl)Benzothiazoline were assessed by the use of various motor parameters of behavior such as pole test and Kondziela's inverted screen test for checking muscular strength, whereas inclined plane test, open field test and Rota rod test for motor coordination. Pre-treatment with drug reversed the gross motor impairments which were produced by rotenone. We conclude that 2- (2 Thienyl)Benzothiazoline, like its other candidate drug also protects against destructive effects of the compound rotenone and itcan be used as beneficial drug against various neurodegenerative diseases.


Assuntos
Fármacos Neuroprotetores , Doença de Parkinson , Idoso , Animais , Benzotiazóis , Humanos , Destreza Motora , Doença de Parkinson/tratamento farmacológico , Ratos , Rotenona/toxicidade
9.
J Ayub Med Coll Abbottabad ; 34(1): 58-61, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35466628

RESUMO

BACKGROUND: Gastrointestinal duplication is a rare developmental anomaly that can be present anywhere along the GI tract, most often being found in ileum. The purpose of this study is to share our experience in evaluation of the presentation, investigations, management challenges and complications of patients with this very rare condition. METHODS: This descriptive case series was conducted at the Department of Paediatric Surgery, National Institute of Child Health Karachi, Pakistan, from April 2018 to October 2019. Data was analysed with regard to age, clinical presentation, investigations, surgical procedures, site and type of lesion, histopathology, complications and outcomes. RESULTS: A total of five patients were managed in one and half year. The patients' ages ranged from antenatally diagnosed foetus to 12 years old child. New-born who presented with antenatal diagnosis of abdominal cyst turned out to have duodenal duplication cyst. Among other four were thoracoabdominal duplication cyst, gastric duplication, jejunal duplication and ileal duplication, last two presented with perforation. Other presentations were abdominal pain, swelling and vomiting. Diagnosis was made on clinical ground, x-ray of abdomen, ultrasound and computed tomography. All cysts were resected successfully and patients remained asymptomatic till one year follow up except one patient who expired postoperatively due to liver failure. CONCLUSIONS: Enteric duplication can present in variety of ways depending on anatomical location. Prompt diagnosis and complete excision of cyst is the aim of treatment. However, these rare types of duplication are a challenge to operating surgeons.


Assuntos
Cistos , Anormalidades do Sistema Digestório , Duodenopatias , Dor Abdominal/etiologia , Criança , Cistos/complicações , Cistos/patologia , Cistos/cirurgia , Anormalidades do Sistema Digestório/complicações , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/cirurgia , Feminino , Humanos , Gravidez , Centros de Atenção Terciária , Ultrassonografia
10.
Pak J Med Sci ; 38(1): 297-301, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35035443

RESUMO

OBJECTIVE: To determine the frequency of place of delivery and person detecting the anomaly among newborn babies presenting with delayed diagnosis of anorectal malformation (ARM). METHODS: This is a Descriptive Cross-Sectional Study, conducted at Department of Paediatric Surgery, National Institute of Child Health (NICH) Karachi, from February 19, 2019 to August 18, 2019. All patients with ARM who were diagnosed beyond two hours of life (Delayed diagnosis) were included in the study. Chi square test was applied for comparison of categorical variables. RESULTS: Total 110 patients were enrolled in this study. Nineteen (17.3%) patients were delivered at home, while 91 (82.7%) were delivered at the hospital. The first person detecting the anomaly was grandmother (n=25) or a non-medical person in 58 patients (52.7%), 52 were diagnosed by a medical personal either primarily in 31 cases (28.2%) or secondarily by a neonatologist in 21 cases (19.1%). CONCLUSION: It is concluded that Non-medical person detected ARM mainly despite the babies being delivered mostly at the hospital, indicating the need for meticulous neonatal examination.

11.
BMC Med Genomics ; 14(1): 174, 2021 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-34193129

RESUMO

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a group of genetically and clinically heterogeneous peripheral nervous system disorders. Few studies have identified genetic causes of CMT in the Pakistani patients. METHODS: This study was performed to identify pathogenic mutations in five consanguineous Pakistani CMT families negative for PMP22 duplication. Genomic screening was performed by application of whole exome sequencing. RESULTS: We identified five pathogenic or likely pathogenic homozygous mutations in four genes: c.2599C > T (p.Gln867*) and c.3650G > A (p.Gly1217Asp) in SH3TC2, c.19C > T (p.Arg7*) in HK1, c.247delG (p.Gly83Alafs*44) in REEP1, and c.334G > A (p.Val112Met) in MFN2. These mutations have not been reported in CMT patients. Mutations in SH3TC2, HK1, REEP1, and MFN2 have been reported to be associated with CMT4C, CMT4G, dHMN5B (DSMA5B), and CMT2A, respectively. The genotype-phenotype correlations were confirmed in all the examined families. We also confirmed that both alleles from the homozygous variants originated from a single ancestor using homozygosity mapping. CONCLUSIONS: This study found five novel mutations as the underlying causes of CMT. Pathogenic mutations in SH3TC2, HK1, and REEP1 have been reported rarely in other populations, suggesting ethnic-specific distribution. This study would be useful for the exact molecular diagnosis and treatment of CMT in Pakistani patients.


Assuntos
Doença de Charcot-Marie-Tooth , Humanos , Pessoa de Meia-Idade
12.
Pak J Pharm Sci ; 33(1(Supplementary)): 263-267, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32122857

RESUMO

Voltammetric parameters are studied to confirm the antioxidant activity of citric acid towards reduced form of methyl viologen dication (1, 1'-dimethyl-4, 4'-bipyridinium, MV 2+, also known as paraquat). In this study the kinetics of the reaction of citric acid with reduced form of methyl viologen is also reported. Out of two oxidative peaks (i.e. MVo to MV+˖ and MV+˖ to MV+2) the first peak is almost removed after interaction with citric acid. Shifting in second cathodic peak potential is also obvious and possibility of citric acid to scavenge or making adduct with paraquat is identified. Some real samples (fruit juices) as a rich source of citric acid are also studied. This study presents a simple, relevant and fast voltammetric method by which quick quantitation and monitoring of antioxidant/ scavenging activity of food, herbs and other spices towards paraquat poisoning is possible. It may constitute a new wave of treatment or therapy for the disease caused by paraquat.


Assuntos
Antídotos/análise , Antioxidantes/análise , Ácido Cítrico/análise , Citrus , Técnicas Eletroquímicas/métodos , Paraquat/intoxicação
13.
J Pak Med Assoc ; 70(12(B)): 2342-2345, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33475540

RESUMO

OBJECTIVE: To find the effect of pathogenic Mitofusin 2 mutations, responsible for Charcot-Marie-Tooth hereditary neuropathy type 2A, on protein structure. METHODS: The study was conducted at department of biosciences COMSATS University Islamabad, Sahiwal campus from September 2016 to July 2017, and comprised patients with Charcot Marie-Tooth hereditary neuropathy type 2A who were divided into early-onset severe group A and late-onset mild group B. Bioinformatics and molecular analysis was done to find the changes in the protein structure caused by the mutation. Three mutations were selected in two domains of the gene. These were: p. Arg94Trp, p. His165Arg and p. Thr362Met. RESULTS: Of the 10 patients, 5(50%) were in each of the two groups. Change in the structure was predicted in the mutated protein at position p. Arg94Trp, and, due to the mutation, an extra alpha helix was formed in the mutated protein. CONCLUSIONS: Change in the structure of protein can be in a critical position that is involved in the mitochondrial fusion process. However, further studies are required to validate and explain the findings.


Assuntos
Doença de Charcot-Marie-Tooth , GTP Fosfo-Hidrolases , Doença de Charcot-Marie-Tooth/genética , GTP Fosfo-Hidrolases/genética , Humanos , Proteínas Mitocondriais/genética , Mutação , Fenótipo
14.
J Pak Med Assoc ; 69(10): 1425-1430, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31622291

RESUMO

OBJECTIVES: To find interactions of the ligand with axonali nhibitors, and to check the optimum interactions of existing drugs as inhibitors for the protein that hinders the growth of injured neurons. METHODS: The study was conducted at Kongju National University, Korea from May 2016 to March 2017. It consisted of two parts. Molecular analysis and bioinformatics analysis. The study comprised a family of six with Charcot-Marie-Tooth phenotypes, recommended by a neurologist for molecular analysis on the clinical symptoms to find the mutations responsible for the disease. Blood samples were collected from each family member and total deoxyribonucleic acid was extracted and it was analysed for Reticulon 4 gene by sequencing the coding and intronic regions. However, a missense mutation was found on exon 2 of the gene in the proband and the whole family was subsequently analysed. Bioinformatics analysis and docking studies were carried out to investigate the potential behaviour of Reticulon 4 as therapeutic agent. Sequencing analysis was performed to find the pathoegenic variant responsible for Charcot-Marie-Tooth type 1. RESULTS: After checking pathogenicity of the mutation, Reticulon 4 gene was found to be not involved in Charcot- Marie-Tooth disease type 1. CONCLUSIONS: Reticulon 4 gene was not found to be involved in causing Charcot-Marie-Tooth disease type 1.


Assuntos
Axônios/metabolismo , Doença de Charcot-Marie-Tooth/genética , Proteínas Nogo/genética , Remielinização/genética , 1-(5-Isoquinolinasulfonil)-2-Metilpiperazina/análogos & derivados , 1-(5-Isoquinolinasulfonil)-2-Metilpiperazina/metabolismo , Adulto , Pré-Escolar , Simulação por Computador , Família , Feminino , Proteínas Ligadas por GPI/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Simulação de Acoplamento Molecular , Terapia de Alvo Molecular , Mutação de Sentido Incorreto , Proteínas da Mielina/metabolismo , Glicoproteína Associada a Mielina/metabolismo , Regeneração Nervosa/genética , Proteínas Nogo/metabolismo , Linhagem , Inibidores de Proteínas Quinases/metabolismo
15.
J Pak Med Assoc ; 69(2): 241-243, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30804591

RESUMO

Phenotype varies among the various types of Charcot Marie Tooth Neuropathies(CMT), However the problem arises in cases of same gene but gives a huge variety of phenotype in terms of early and late onset and severity of the disease. To check the impact of rs139723190 SNP on severity of the CMT 2k patients; being a genetic modifier of GDAP1. In the current study CMT 2k patients with early and late onset were analyzed for association of rs139723190 SNP in JPH1 gene responsible for CMT type severe and mild phenotypes. Single nucleotide polymorphisms (SNPs) lead to genetic differences in CMT patients on the basis of severity of the disease. The results of the present study suggest that variants of JPH1 may contribute to the genetic susceptibility as it plays a vital role as genetic modifier in CMT 2K. Candidates risk variants should be further evaluated in studies with a larger sample size.


Assuntos
Doença de Charcot-Marie-Tooth , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Adolescente , Adulto , Idade de Início , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/epidemiologia , Doença de Charcot-Marie-Tooth/genética , Pré-Escolar , Feminino , Genes Modificadores , Estudos de Associação Genética , Humanos , Masculino , Paquistão , Polimorfismo de Nucleotídeo Único , Índice de Gravidade de Doença
16.
J Pak Med Assoc ; 68(7): 1039-1042, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30317298

RESUMO

OBJECTIVE: To find the causative mutation by linkage analysisof Charcot-Marie-Tooth disease while focussing on AMACR gene. METHODS: The case-control study was conducted from November 2016 to March 2017 in Kongju National University Korea.A family of 15 members with composite symptoms of peripheral neuropathy were enrolled. In addition, 50 healthy controls, which had no clinical features and family history of neuromuscular disorders, were also recruited. The family was selected for sequencing analysis by using capillary sequencing. It was sequenced for all the causative genes for CMT disease i.e. PMP22, MPZ, MFN2, GDAP1, NEFL, CX32, MYH14, LMNA, TRPV4, LITAF. Various regions of chromosome were suspected based on the logarithm of the odds score. RESULTS: Of the 15-member family, 7(47%) were affected and 8(53%)were unaffected. Those unaffected also acted as the controls. A missense mutation was found in exon 1 of the AMACR gene at p.Gly175Asp position. The mutation was also found in some of the unaffected members as well as in the control samples. CONCLUSIONS: As the mutation was found in the healthy samples as well, it can be said that the current mutation AMACR can be involved in some other forms of peripheral neuropathy which can be with other phenotypes.


Assuntos
Doença de Charcot-Marie-Tooth/genética , DNA/genética , Mutação , Racemases e Epimerases/genética , Doença de Charcot-Marie-Tooth/metabolismo , Análise Mutacional de DNA , Feminino , Seguimentos , Humanos , Masculino , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Racemases e Epimerases/metabolismo , Estudos Retrospectivos
17.
J Pak Med Assoc ; 67(10): 1588-1592, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28955079

RESUMO

It is considered that people from poor countries get depressed which ultimately leads to suicide. It is estimated that one million people commit suicide every year worldwide. It is considered from statistics that global annual suicide fatalities could rise to 1.5 million by 2020. Economically and culturally the most influential countries of East Asia are China, Japan and South Korea. To find the underlying causes for such a high suicide rate was the basic purpose of this article. We selected 100 suicide research articles as well as World Health Organisation's statistics related to suicide in East Asian countries. Stress and insecurity, whether related to employment or in relationship, are the basic causes which ultimately take an individual to the verge of suicide. Some people also find suicide a mean to get rid of life due to some lethal diseases. Aged persons consider themselves out of life so they adopt suicide. The government has already taken serious steps to minimise the death rate caused by suicide. Stress in education institutions has to be negotiated by taking some steps in education policy. Consistent efforts should be made to cope with this problem.


Assuntos
Suicídio/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Ásia Oriental/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
18.
J Pak Med Assoc ; 67(7): 1030-1034, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28770881

RESUMO

OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction. Once mutation was characterised, chorionicvilus sampling was carried out to provide the retrospective first trimester prenatal diagnosis. RESULTS: A total of five families were included in this study. Electropherogram showed that both mother and father were heterozygous (carrier) for intervening sequence I-5 mutation whereas the affected child was homozygous for this mutation. Five chorionic villus samples were examined to analyse the molecular defects which were responsible for beta-thalassaemia in the families. Prenatal diagnosis was performed for these families. They had at least one affected child (thalassaemia major) who was transfusion-dependant. Amplification refractory mutation system-polymerase chain reaction was found to be a very sensitive method to find the known point mutations present in beta-globin gene. Point mutations identified included intervening sequence I-5 (G-C), frameshift codon8/9 (+G) and frameshift codon-41/42 (-TTCT). CONCLUSIONS: It is the best preventive action to adopt the screening process to overcome the disease.


Assuntos
Testes Genéticos/métodos , Diagnóstico Pré-Natal/métodos , Globinas beta/genética , Talassemia beta/diagnóstico , Aborto Induzido , Transfusão de Sangue , Amostra da Vilosidade Coriônica/métodos , Feminino , Heterozigoto , Humanos , Masculino , Biologia Molecular , Paquistão , Pais , Linhagem , Reação em Cadeia da Polimerase , Gravidez , Irmãos , Talassemia beta/genética , Talassemia beta/terapia
19.
J Pak Med Assoc ; 66(3): 328-33, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26968287

RESUMO

Polio is one out of 200 infections results to lasting paralysis, usually in the legs. The year 2014 has been the saddest year for the Pakistan when the World was about to eliminate Polio from all over the World. In year 1994 Pakistan took the initiative to eliminate Polio from the country. The efforts were going well until 2005, when Pakistan was on the wedge to overcome the Disease. The hopes were high that soon Pakistan will become a polio-virus-free country, but the drone strikes in FATA and the rise of different militant groups as a reaction of the drone attacks in FATA made it difficult for the health workers to continue their vaccination campaigns in these areas. However various factors ruined the efforts made to eradicate Polio. In Pakistan, polio is widespread to three sections. These are Karachi, Quetta block (Quetta, Pishin and Killah Abdullah district) and FATA and Peshawar district. Numerous things are accountable for polio flourishing in these regions. These comprise near to the ground socioeconomic rank of the families, not having the knowledge concerning hazard caused by polio and disinformation by limited significant people concerning how polio vaccines fabricate damage. In 2014, only 3 countries in the world remain polio-endemic: Nigeria, Pakistan and Afghanistan. From year 2012-2014 the number of registered Polio cases is on rise contrary to rest of the other two Polio-endemic countries. In spite of the extensive work done by Polio workers the number of Polio cases has broken the 16 year record. The situation is getting worse because it can also be threatening to the rest of the World.


Assuntos
Erradicação de Doenças/tendências , Surtos de Doenças , Doenças Endêmicas , Poliomielite/prevenção & controle , Vacinas contra Poliovirus/uso terapêutico , Acessibilidade aos Serviços de Saúde , Humanos , Paquistão , Poliomielite/epidemiologia , Vacinas contra Poliovirus/provisão & distribuição , Violência
20.
Int J Qual Health Care ; 27(4): 255-9, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26060228

RESUMO

OBJECTIVE: The objective of this study is an attempt to measure the performance in terms of comparing results with a large internationally recognized database used as a benchmark. DESIGN: Cross-sectional (prospectively collected data analysed and compared retrospectively). SETTING: Aga Khan University Hospital, Karachi, Pakistan. PARTICIPANTS, INTERVENTIONS AND MAIN OUTCOME MEASURES: From January 2006 to December 2010, information of the 2198 CABGs performed at Aga Khan University Hospital (AKU) was collected prospectively. This included patient characteristics and specific intra- and post-operative outcomes and compared with findings from the American Society of Thoracic Surgeons' National Cardiac Database (STS-NCD). RESULTS: There were more male patients in the AKU cohort and more diabetics. In AKU, more cases involved three or more grafts (85 vs. 78%), and in both groups, an internal mammary artery graft was used over 90% of the time. The overall 30-day mortality was 2.7% at AKU, compared with 1.5% in the STS-NCD data. AKU had a lower incidence of permanent stroke (0.5 vs. 1.2%), prolonged ventilation (10.5 vs. 11.0%), deep sternal wound infection (0.2 vs. 0.4%) and reoperation (4.0 vs. 4.7%). It had more cases of renal failure (5.4 vs. 3.6%). Readmission rates within 30 days were also less in AKU (3.9 vs. 9.1%). CONCLUSIONS: The outcomes of this study compare very favourably with the benchmark (STS). This demonstrates that high level of quality care can be achieved in this part of the world.


Assuntos
Ponte de Artéria Coronária/normas , Idoso , Ponte de Artéria Coronária/mortalidade , Ponte de Artéria Coronária/estatística & dados numéricos , Estudos Transversais , Países em Desenvolvimento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Resultado do Tratamento
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