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1.
J Pak Med Assoc ; 74(3): 445-449, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38591275

RESUMO

Objectives: To evaluate the quality of sleep in patients hospitalised with coronavirus disease-2019, and its impact on hospitalisation duration, need for intensive care unit admission and mortality. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from May 2, 2021 to April 30, 2022, and comprised hospitalised coronavirus disease-2019 patients. Data was gathered using the Pittsburgh Sleep Quality Index questionnaire, including demographics, comorbidities, length of hospital stay, need for intensive care unit admission, C-reactive protein and D-dimer values at admission, and the outcome. The patients were divided into group A having good sleep quality score >5 and group B having poor sleep quality score <5. Data was analysed using SPSS 25. RESULTS: Of the 1,250 patients, 559(44.7%) were males and 691(55.3%) were females. There were 560(44.8%) patients in group A with mean age 53.80±14.85 years, and 690(55.2%) patients in group B with mean age 53.71±14.32 years. There were no significant intergroup differences in terms of age and high-resolution computed tomography scan (p>0.05). The difference was significant with respect to gender, comorbid conditions, education status as well C-reactive protein and D-dimer levels (p<0.001). Group B patients had a longer duration of hospitalisation (p<0.001) and a higher need for intensive care unit admission (p<0.001) compared to group A. The outcome was death in 166(13.28%) patients in group B compared to 40(3.2%) in group A (p<0.001). CONCLUSIONS: Poor sleep quality was found to be associated with longer hospital stay, increased need for mechanical ventilation, and higher mortality rate in coronavirus disease-2019 patients.


Assuntos
COVID-19 , Distúrbios do Início e da Manutenção do Sono , Masculino , Feminino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Qualidade do Sono , SARS-CoV-2 , Estudos Transversais , Proteína C-Reativa
2.
J Pak Med Assoc ; 74(1): 169-171, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38219193

RESUMO

Wilson's disease is arare inherited disorder of copper met abolism. If le f t untre ated, i t can turn into a multi systemic disease with copper deposition in the liver, brain, a nd other tissues. Diagnosi s of Wilson's is delayed in Pak ist an by many ye a rs on average due to va riabl e presen tations. In ad olescents, the initial s igns a re more likely to b e neuropsychiatric. Here we present a case of Wilso n's disease that pre sented initially with he patic symptoms and did not have signs specific to the di sea s e such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease on ly on further investigat ions and s ubsequently the patient was treated with chela tion therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagno sis in adolesce nt patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.


Assuntos
Degeneração Hepatolenticular , Masculino , Humanos , Degeneração Hepatolenticular/diagnóstico , Cobre , Penicilamina/uso terapêutico , Encéfalo/diagnóstico por imagem
3.
Pak J Med Sci ; 40(5): 800-810, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38827854

RESUMO

Objective: We assessed the effectiveness of oral Hydroxychloroquine (HC), Azithromycin (AZ) and Oseltamivir (OS), alone or combined, among patients hospitalized with mildly symptomatic coronavirus infectious disease (COVID-19). Methods: Following the approval of the National Bioethics Committee and prospective registration (clinicaltrials.gov NCT04338698), a multicenter randomized clinical trial of adaptive design was conducted at 10 multispecialty hospitals in Pakistan. Patients were randomized into seven treatment groups. Starting April 15, 2020, consenting, eligible, otherwise healthy adult patients or those with co-morbidities under control, were recruited if they presented with mildly symptomatic COVID-19 (scored 3 on a 7-point ordinal scale anchored between 1 = not hospitalized, able to undertake normal activities, to 7 = death) confirmed by quantitative Real-Time Polymerase Chain Reaction (qRT-PCR). Two primary outcomes were assessed by day seven: Turning qRT-PCR negative; and clinical improvement of two points from the baseline. Outcome rates were compared using a chi-square test. Multiple imputations were applied to handle missing data. An interim data analysis was carried out on July 19, 2020, following which the study continued without treatment group changes. Data Safety and Monitoring Board advised to stop recruitment due to its futility on January 18, 2021. Results: Of 471 patients randomized, a total of 426 (90.4%) completed the follow-up for primary outcomes. Based on imputed data analyses at day seven: Total qRT-PCR negative cases were 137/471 (29%, 95% CI 25.0 - 33.4). By day seven, a total of 111/471 (23.5%, 95% CI 19.8 - 27.6) showed clinical improvement. No serious or non-serious adverse event was reported. Conclusions: Among patients with mild COVID-19, there was no statistically significant difference in the effectiveness of oral antimalarial, antiviral, or antibiotic treatments.Clinicaltrials.gov ID: NCT04338698.

4.
Medicina (Kaunas) ; 59(2)2023 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-36837579

RESUMO

Background and Objective: Mutations in the CYB5R3 gene cause reduced NADH-dependent cytochrome b5 reductase enzyme function and consequently lead to recessive congenital methemoglobinemia (RCM). RCM exists as RCM type I (RCM1) and RCM type II (RCM2). RCM1 leads to higher methemoglobin levels causing only cyanosis, while in RCM2, neurological complications are also present along with cyanosis. Materials and Methods: In the current study, a consanguineous Pakistani family with three individuals showing clinical manifestations of cyanosis, chest pain radiating to the left arm, dyspnea, orthopnea, and hemoptysis was studied. Following clinical assessment, a search for the causative gene was performed using whole exome sequencing (WES) and Sanger sequencing. Various variant effect prediction tools and ACMG criteria were applied to interpret the pathogenicity of the prioritized variants. Molecular dynamic simulation studies of wild and mutant systems were performed to determine the stability of the mutant CYB5R3 protein. Results: Data analysis of WES revealed a novel homozygous missense variant NM_001171660.2: c.670A > T: NP_001165131.1: p.(Ile224Phe) in exon 8 of the CYB5R3 gene located on chromosome 22q13.2. Sanger sequencing validated the segregation of the identified variant with the disease phenotype within the family. Bioinformatics prediction tools and ACMG guidelines predicted the identified variant p.(Ile224Phe) as disease-causing and likely pathogenic, respectively. Molecular dynamics study revealed that the variant p.(Ile224Phe) in the CYB5R3 resides in the NADH domain of the protein, the aberrant function of which is detrimental. Conclusions: The present study expanded the variant spectrum of the CYB5R3 gene. This will facilitate genetic counselling of the same and other similar families carrying mutations in the CYB5R3 gene.


Assuntos
Metemoglobinemia , Humanos , Metemoglobinemia/congênito , Metemoglobinemia/genética , Simulação de Dinâmica Molecular , NAD/genética , NAD/metabolismo , Mutação , Cianose , Citocromo-B(5) Redutase/genética , Citocromo-B(5) Redutase/metabolismo
5.
Pak J Med Sci ; 39(4): 1124-1128, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37492301

RESUMO

Objective: To identify genetic causes of Shabbir syndrome in two patients of Pakistani origin. Methods: In the present study, we have investigated a Pakistani family with two affected members segregating Laryngo-onycho-cutaneous (LOC) syndrome. The patients were diagnosed as suspected cases of LOC based on phenotypes including abnormal larynx, nails, and hyperpigmentation in patients' eyes. Genetic investigation was done by performing whole exome sequencing (WES) using DNA of the patients. Sanger sequencing was performed to validate WES findings and segregation analysis in the family. Results: Data analysis of exomes and Sanger sequencing of patients revealed a homozygous one base pair duplication (NM_000227.6; LAMA3; c.151dup; p.Val51GlyfsTer4) in LAMA3 in the patients. Parents of the patients were heterozygous for the identified variant. Conclusion: Previously, the same variant has been found in most of the Pakistani Punjabi patients affected with LOC. Therefore, Pakistani Punjabi families affected with Shabbir Syndrome may be screened for c.151dup variant in LAMA3 using targeted sequencing. Sanger sequencing is a cost-effective and time-saving technique as compared to whole exome/genome sequencing. Hence, developing ethnicity-specific LAMA3 targeted molecular diagnostic test would be cost-effective. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.

6.
J Pak Med Assoc ; 71(5): 1357-1368, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34091615

RESUMO

OBJECTIVE: To assess the prevalence and severity of fibromyalgia in hospital-visiting patients. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from July, 2018, to January, 2019, and comprised patients aged 18-75 years of either gender. Demographic information, comorbidities and previous medications were recorded for each patient. The modified American College of Rheumatology preliminary diagnostic criteria 2010-11 for fibromyalgia diagnosis. If diagnosed, the fibromyalgia impact questionnaire was administered to assess its severity. Data was analysed using SPSS 25. RESULTS: Of the 750 hospital-visiting patients, fibromyalgia was diagnosed in 250(33.3%); 190(76%) of them being females (p<0.0001). Comorbidities, age and increased elevated body mass index were significantly associated with fibromyalgia. Severity was not influenced by comorbidities, marital status, education or economic status (p>0.05). Menarche at a later age and menstrual irregularity were associated with fibromyalgia severity (p<0.05). CONCLUSIONS: The hospital-based prevalence of fibromyalgia was found to be high, especially among females.


Assuntos
Fibromialgia , Estudos Transversais , Feminino , Fibromialgia/epidemiologia , Hospitais , Humanos , Paquistão/epidemiologia , Prevalência , Índice de Gravidade de Doença , Estados Unidos
7.
J Pak Med Assoc ; 71(6): 1676-1678, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34111096

RESUMO

Wheat pill (zinc or aluminium phosphide), also known as rice pill, is used as rodenticide in wheat and rice storage reservoirs. In developing countries such as Pakistan there has been an increase in the number of aluminium phosphide (wheat pill) poisoning with suicidal intent due to its easy accessibility. It has a high mortality rate, with no antidote available. A young female presented with classical signs and symptoms of wheat pill poisoning, although during her stay at the hospital she developed cardiac arrhythmias leading to shock, haematuria, pleural effusion, and hyperglycaemia due to acute pancreatitis. Due to the appropriate recognition and management of the complications, the patient was able to recuperate. Appropriate transfer to Intensive Care Unit and prompt recognition of complications can lead to good outcomes. We recommend that there should be a nationwide cognizance campaign regarding the lethal consequences of wheat pill consumption by humans and proper disposal of this deadly material.


Assuntos
Pancreatite , Fosfinas , Intoxicação , Doença Aguda , Compostos de Alumínio , Feminino , Humanos , Paquistão , Intoxicação/diagnóstico , Intoxicação/terapia , Triticum
8.
J Pak Med Assoc ; 71(1(B)): 205-209, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35157650

RESUMO

OBJECTIVE: To determine the nasal carriage of staphylococcus aureus and methicillin-resistant staphylococcus aureus among healthcare workers in a tertiary care setting. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from April to July 2018, and comprised healthcare workers at the institution. Nasal swabs were collected and cultured on Mannitol salt agar. Mannitol fermenting colonies which were gram-positive cocci, catalase-positive and coagulase-positive were identified as staphylococcus aureus. Antibiotic susceptibility test was performed by modified Kirby-Bauer disc diffusion method. Methicillin resistance was detected using cefoxitin disc diffusion method. Data was analysed using SPSS 23. RESULTS: Of the 210 nasal swabs, 52(24.76%) had a staphylococcus aureus growth, and of them, 15(7.1%) were methicillin-resistant. No association could be established with either any single category of healthcare worker or an inter-department variation (p>0.05). Likewise, there was no association with age, gender, duration of service, smoking, co-morbidities, use of antibiotics in the preceding six months, treating a patient with methicillin-resistant staphylococcus aureus in the preceding six months and hospitalisation in the preceding year (p>0.05). CONCLUSIONS: The frequency of nasal carriage of methicillin resistant staphylococcus aureus amongst healthcare workers was regardless of the nature of their professional engagement.


Assuntos
Staphylococcus aureus Resistente à Meticilina , Infecções Estafilocócicas , Antibacterianos/farmacologia , Portador Sadio/epidemiologia , Estudos Transversais , Atenção à Saúde , Pessoal de Saúde , Humanos , Lactente , Testes de Sensibilidade Microbiana , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estafilocócicas/epidemiologia , Centros de Atenção Terciária
9.
J Pak Med Assoc ; 70(11): 1990-1995, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-33341846

RESUMO

OBJECTIVE: To identify patient practices and knowledge pertaining to Ramadan fasting and to see whether physicians were providing adequate counselling and adjusting medications accordingly. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from June to August 2018, and comprised diabetic patients who fasted during Ramadan. A questionnaire was designed to assess patients' knowledge, risk category, pre-Ramadan counselling, medication adjustment, lifestyle changes, pre- and post- Ramadan glycated haemoglobin levels, and complications during Ramadan. Data was analysed using SPSS 23. RESULTS: Out of 272 diabetics, 176(64.7%) were females. Mean number of fasts kept were 22±10.61. Pre-Ramadan 120(44.1%) patients consulted their physicians and 105(87.5%) of them received relevant counselling. Medications were adjusted in only 30 (25%) such cases. Overall, 41(15.1%) patients were in the high risk category, while 109(40.1%) and 122(44.9%) were in the moderate and low-risk categories. During the month, 17(6.25%) were hospitalised due to diabetes-related complications. Glycated haemoglobin levels fell significantly (p<0.0001). CONCLUSIONS: Anomalous patient behaviours and suboptimal physician practices were noticed.


Assuntos
Diabetes Mellitus Tipo 2 , Médicos , Aconselhamento , Estudos Transversais , Diabetes Mellitus Tipo 2/terapia , Jejum , Feminino , Controle Glicêmico , Humanos , Islamismo , Masculino , Paquistão , Centros de Atenção Terciária
10.
J Pak Med Assoc ; 69(3): 383-388, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30890832

RESUMO

OBJECTIVE: To evaluate knowledge of diabetes using diabetes knowledge questionnaire in diabetic patients. METHODS: The cross-sectional study was conducted at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from October to December 2017, and comprised subjects aged >20 years with a diagnosis of type 2 diabetes. The modified version of diabetes knowledge questionnaire was used for data collection. It had 24 questions concerning patient's diabetes knowledge and self-care practices. One point was given for each correct answer. The highest achievable score was 24. A total score of ?12 was considered suggestive of adequate knowledge. SPSS 23 was used for data analysis. RESULTS: Of the 401 subjects, 175 (43.6%) were males and 226 (66.4%) were females. The overall mean age was 52.9 }12.3 years, and mean duration of diabetes was 7.95}6.7 years. The mean score on the questionnaire was 9.97}3.93. Only 135(33.7%) patients showed adequate knowledge of the disease. Factors having positive correlation with the score were patient's urban background, level of literacy and their socioeconomic status (p<0.05 each). The duration of diabetes and the control of diabetes had no influence on the scores (p>0.05 each). CONCLUSIONS: Knowledge about diabetes was found to be generally poor among diabetics.


Assuntos
Complicações do Diabetes , Diabetes Mellitus Tipo 2 , Conhecimentos, Atitudes e Prática em Saúde , Autocuidado , Adulto , Idoso , Estudos Transversais , Dieta , Exercício Físico , Feminino , Humanos , Hipoglicemia , Hipoglicemiantes , Insulina , Alfabetização , Masculino , Pessoa de Meia-Idade , Paquistão , Classe Social , Inquéritos e Questionários , População Urbana
11.
J Pak Med Assoc ; 69(1): 58-63, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30623913

RESUMO

OBJECTIVE: To assess foot-care behaviour in diabetics attending a tertiary care hospital, and to see if there are any influencing factors. METHODS: The cross-sectional descriptive study was conducted from September to November 2017 at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, and comprised diabetes patients either admitted to the wards or attending the outpatient clinics. Foot-care behaviour was assessed through the validated Nottingham Assessment of Functional Foot-care scale. A score over 50 demonstrated adequate foot-care behaviour. The score was correlated with several variables. SPSS 23 was used for data analysis. RESULTS: Of the 400 individuals, 238(59.5%) were females and 162(40.5%) were males. The overall mean age was 52.71}11.84 years. Of the total, 228(57%) had never received any education on proper foot-care; 289(72.3%) had a scale score of less than or equal to 50. Urban or rural residence, monthly income, literacy level, family history of diabetes, and previous foot-care education provided by the healthcare provider were significant factors associated with good foot-care behaviour (p<0.05 each). CONCLUSIONS: A majority of the patients demonstrated inadequate foot-care behaviour..


Assuntos
Diabetes Mellitus Tipo 2 , Pé Diabético , Comportamentos Relacionados com a Saúde , Letramento em Saúde , Educação de Pacientes como Assunto/métodos , Adulto , Atitude Frente a Saúde , Estudos Transversais , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/epidemiologia , Pé Diabético/etiologia , Pé Diabético/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação das Necessidades , Paquistão , Fatores Socioeconômicos
12.
J Pak Med Assoc ; 69(4): 483-488, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31000849

RESUMO

OBJECTIVE: To assess the association of red cell distribution width with glycaemic control and the presence of complications in diabetes patients. METHODS: The cross-sectional study was done at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from September to November 2017, and comprised patients with type 2 diabetes. Clinical and demographical characteristics were documented and they were subjected to complete blood count, red cell distribution width, glycated haemoglobin, fasting and random blood glucose, lipid profile, urea and creatinine. The presence of complications were assessed during clinical examination. SPSS 20 was used for data analysis.. RESULTS: There were 349 patients with a mean age of 53.14±11.77 years. The mean duration of diabetes was 8.36±6.64 years and mean glycated haemoglobin was 9.05±1.93. Red cell distribution width was significantly associated with the duration of diabetes, hypertension, macrovascular and microvascular complications and extent of glycaemic control (p<0.0001 each). A statistically significant linear relationship was observed between red cell distribution width and the number of macrovascular and microvascular complications (p<0.0001) and glycated haemoglobin (p<0.0001). Mean red cell distribution width was 13.94±1.66, 14.72±1.38, and 15.76±1.55 for optimal control, borderline control and poor control respectively. This linear incremental pattern was statistic ally significant (p<0.0001). CONCLUSIONS: The linear association of red cell distribution width with glycated haemoglobin may enable its use as a measure of the extent of hyperglycaemia.


Assuntos
Glicemia/metabolismo , Diabetes Mellitus Tipo 2/sangue , Angiopatias Diabéticas/sangue , Índices de Eritrócitos , Hemoglobinas Glicadas/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/metabolismo , Angiopatias Diabéticas/epidemiologia , Feminino , Humanos , Hipertensão/sangue , Hipertensão/epidemiologia , Hipoglicemiantes/uso terapêutico , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologia , Fatores de Tempo
13.
J Pak Med Assoc ; 68(11): 1590-1596, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30410134

RESUMO

OBJECTIVE: To assess diabetes distress and its associated factors in Pakistani population.. METHODS: The cross-sectional study was conducted at Pakistan Institute of Medical Sciences, Islamabad, Pakistan, from July to December 2017, and comprised patients of diabetes type 2. After noting down demographic and clinical parameters, diabetes distress of the subjects was measured by applying the 17-item diabetes distress scale which also assesses sub domains like emotional burden, physicianrelated distress, regimen-related distress and interpersonal distress. SPSS 20 was used to analyse data. RESULTS: There were 349 subjects with a mean age of 53.14±11.77 years, mean diabetes duration of 8.36±6.64 years and a mean glycated haemoglobin value of 9.05±1.93%. Mean overall diabetes distress score was 2.55±0.75, signifying moderate distress. Overall, prevalence of diabetes distress was found among 266(76.2%) subjects;164(47%) moderate and 102(29.2%) high level distress. Emotional burden was most substantially elevated, with 296(84.8%) patients reporting moderate to high levels. Total diabetes distress was significantly related to demographic background (p<0.0001), education level (p=0.015), monthly income, frequency of administration of medication, adherence to medical treatment (p<0.05), number of complications (p<0.05) and overall glycaemic control (p<0.001). CONCLUSIONS: Modifiable factors, such as frequency of medication and compliance to treatment, should be addressed with the aim of decreasing diabetes distress and improve glycaemic control..


Assuntos
Diabetes Mellitus Tipo 2/complicações , Emoções/fisiologia , Etnicidade , Adesão à Medicação/psicologia , Medição de Risco , Estresse Psicológico/etnologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Glicemia/metabolismo , Estudos Transversais , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/etnologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologia , Fatores de Risco , Estresse Psicológico/etiologia
14.
Cureus ; 16(2): e53817, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38332997

RESUMO

OBJECTIVE: This study focused on examining the clinical manifestations, disease severity, and outcomes among cases of dengue fever (DF) confirmed through serological testing. The study specifically targeted individuals admitted to a tertiary care hospital in Islamabad, Pakistan. METHODOLOGY: This prospective observational study at the Pakistan Institute of Medical Sciences, Islamabad, Pakistan, tracked 1,003 patients from admission to discharge or death between August 2022 and November 2023. Patients were monitored, and admission criteria were established based on the identification of warning signs. The data collection process encompassed gathering demographic information, documenting clinical symptoms, and utilizing a severity classification system for the disease. Outcome measures comprised the duration of critical illness, length of hospital stay, overall outcomes (discharge or mortality), and the assessment of complications. The collected data were analyzed using IBM Statistical Package for the Social Sciences (SPSS) software version 22.0 (IBM Corp., Armonk, NY). RESULTS: Baseline characteristics revealed a male predominance (67.8%), with an average age of 35.77 years, and common comorbidities such as hypertension (9.3%) and diabetes mellitus (7.3%). Dengue fever was most prevalent among patients whose blood group was B+ (15.0%). Nonstructural protein 1 (NS1) was positive in 73.4% of the cases. Fever was the predominant complaint in 98.0% of instances. Common bleeding manifestations included epistaxis, gum bleeding, and hematemesis. About 52.20% of cases were observed to have severe thrombocytopenia at admission. Hospital-related aspects demonstrated a mean stay of 3.35 days, a critical phase lasting 1.68 days, and rare complications like expanded dengue syndrome (2.2%). Encouragingly, 98.9% of patients were discharged, 0.4% were shifted, and 0.7% succumbed to the disease. CONCLUSION: This study comprehensively analyzes the demographic and clinical aspects of DF, emphasizing a male predominance and the fact that fever was the most common presenting complaint. The duration of hospitalization revealed a brief mean stay, a short critical phase, and low complication rates, with a high discharge rate suggesting positive outcomes.

15.
An Bras Dermatol ; 98(5): 580-586, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37183149

RESUMO

BACKGROUND: Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare hereditary disorder characterized by defects in teeth, hair, and nails in association with a fusion of the digits. Genetically, the disease phenotypes are caused by homozygous and compound heterozygous variants in NECTIN4 gene. OBJECTIVE: The main objective of the study was to identify the pathogenic sequence variant(s) for family screening and identification of carriers. METHODS: In the present study, the authors have investigated a large consanguineous family of Pakistani origin segregating autosomal recessive EDSS1. All the coding exons of the NECTIN4 gene were directly sequenced using gene-specific primers. RESULTS: The affected individuals presented the classical EDSS1 clinical features including sparse hair, hypoplastic nails with thick flat discolored nail plates, peg-shaped, conical, and widely spaced teeth with enamel hypoplasia, proximal cutaneous syndactyly of fingers and toes. Sequence analysis of the coding region of the NECTIN4 identified a novel nonsense variant [c.163C>T; p.(Arg55*)] in exon-2 of the gene. Computational analysis of protein structure revealed that the variant induced premature termination at Arg55 located in Ig-like V-loop region leading to loss of Ig-C2 type domains and transmembrane region, and most likely Nectin-4 function will be lost. STUDY LIMITATION: Gene expression studies are absent that would have strengthened the findings of computational analysis. CONCLUSION: The present study expanded the phenotypic and mutation spectrum of the NECTIN4 gene. Further, the study would assist in carrier testing and prenatal diagnosis of the affected families.


Assuntos
Displasia Ectodérmica , Sindactilia , Humanos , Displasia Ectodérmica/genética , Códon sem Sentido/genética , Paquistão , Sindactilia/genética , Sindactilia/complicações , Mutação , Dedos , Moléculas de Adesão Celular/genética
16.
J Ayub Med Coll Abbottabad ; 35(3): 424-427, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38404085

RESUMO

BACKGROUND: Enteric fever is an infectious disease caused by Salmonella enterica including Salmonella Typhi and Paratyphi A and is associated with potentially serious outcomes, especially in developing countries. The study was conducted with the aim to present the clinical features, laboratory characteristics and antibiotic susceptibility in patients with culture-proven extensively drug-resistant (XDR) enteric fever and to explore drug combinations as a possible solution for the growing problem of antimicrobial resistance. METHODS: This descriptive cross-sectional study was conducted in the Paediatric unit of Ayub teaching hospital. Patients admitted with culture-proven XDR enteric fever were included. Patient characteristics were documented on a predesigned proforma. Response to antimicrobial agents including ceftriaxone and levofloxacin, azithromycin and meropenem and meropenem alone was assessed. Data was entered and analyzed using SPSS version 26. RESULTS: A total of 53 patients participated in this study. The majority of patients 36 (67.9%) were male and above 5 years of age(n=38,71.7%). The mean age of the participants was 7.08±3.02 years. The major presenting features included fever, anorexia and pain abdomen in 53 (100%), 51 (96.2%) and 41 (77.4%) respectively. The mean duration of symptoms prior to hospitalization was 8.92±3.361 days. Of the total patients, 32(60.4%) responded to the initial therapy with ceftriaxone and levofloxacin, 11(20.8%) patients responded to meropenem alone and 10 (18.9%) patients responded to meropenem and azithromycin in combination. There was no statistically significant difference in mean duration to show response in patients receiving either of the treatments (p=0.484). CONCLUSIONS: Paediatric patients with XDR enteric fever mainly presented with fever, anorexia and pain abdomen and showed good response to therapy with the combination of ceftriaxone and levofloxacin inspite of the apparent resistance on blood culture and sensitivity.


Assuntos
Anti-Infecciosos , Febre Tifoide , Humanos , Masculino , Criança , Feminino , Pré-Escolar , Febre Tifoide/tratamento farmacológico , Antibacterianos/farmacologia , Azitromicina/uso terapêutico , Ceftriaxona/uso terapêutico , Levofloxacino/uso terapêutico , Meropeném/uso terapêutico , Estudos Transversais , Anorexia/tratamento farmacológico , Farmacorresistência Bacteriana , Salmonella paratyphi A , Testes de Sensibilidade Microbiana , Anti-Infecciosos/uso terapêutico , Dor/tratamento farmacológico
17.
Cureus ; 14(3): e22843, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35382194

RESUMO

Background Chronic obstructive pulmonary disease (COPD) is a chronic airflow obstructive condition. The mainstay of treatment is to avoid exacerbation and manage the symptoms. Roflumilast is being used as a part of treatment to reduce the inflammatory process in this disease. Method This systematic review and meta-analysis were conducted following the provided guidelines. PubMed, Cochrane Library, and Cinahl were considered for searching the desired studies selected until 19 June 2021. The eligibility criteria for inclusion and exclusion were set before selecting studies. Result Five hundred eighty (580) studies were identified at the beginning. Removal of duplicates was done using Endnote software. The eligibility criteria, including the randomized controlled trial study design and others, were applied for screening the title and abstracts. Six studies were selected for the qualitative analysis. After assessing the data from these studies, it was found that roflumilast is an effective drug to treat COPD. Roflumilast plays an essential role in improving quality of life, inflammatory process, and clinical improvement. The drug's mild to moderate adverse effects were observed, but no significant severe adverse events were reported, and the drug was well tolerated. Conclusion Roflumilast is a valuable drug that can be used for its beneficial effects on COPD exacerbation. The benefits of the drug outweigh its adverse effects.

18.
Int J Pediatr ; 2021: 2141128, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34188687

RESUMO

BACKGROUND: There is insufficient data in Pakistan and in South Asia regarding paediatric COVID-19 demographics and related parameters. The main aim of this study was to assess the paediatric population exposed to SARS-CoV-2 infection, their clinical parameters, risk factors, and outcome. METHODS: This was a descriptive retrospective study conducted at the Pakistan Institute of Medical Sciences and Federal General Hospital Islamabad from 23rd July 2020 to 22nd August 2020. All paediatric contacts (≤13 years) of one hundred adult COVID-19 patients were included. Data of the index cases was taken from the medical records. Paediatric data was collected on the phone using a predesigned proforma. RESULTS: There were 137 paediatric contacts of 100 adult COVID-19 index cases. The index cases were predominantly males (67%) and belonged to the middle socioeconomic class (89%), and 14% succumbed to the disease. Females had more paediatric contacts. The mean age of contacts was 6.6 years, and the majority (80%) developed no symptoms. Among the symptomatic contacts, fever and cough were the most common symptoms. None of the contacts developed dyspnoea or required hospitalization. Majority of the contacts had been vaccinated with the BCG vaccine. Testing for COVID-19 was done in only 77 (56%) contacts, 25 (32%) by the government team, and 52 (67%) privately. A higher number of symptomatic contacts were positive (15/17 (88%)) as compared to that of the asymptomatic contacts (6/60 (10%)) (p = 0.002). Development of symptoms in the contacts was associated with the history of respiratory illnesses, recurrent infections, use of hematinics, a positive COVID-test result, and health professionals being index cases (p ≤ 0.01). Parents with higher education and in the health profession and the families of symptomatic contacts reported better compliance with quarantine regulations. CONCLUSION: A significant number of children were exposed to adult COVID-19 patients. Most paediatric contacts remained asymptomatic. Children with preexisting medical conditions and with parents in health profession were susceptible to infection.

19.
Brain Hemorrhages ; 2(3): 134-136, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33686380

RESUMO

The pandemic of severe acute respiratory virus (SARS-CoV-2) is characterized by respiratory symptoms with serious consequences, mainly associated with pneumonia and extreme ARDS. There is a lack of data about specific neurological manifestations of covid-19 infections literature. Epidemiological trials in fewer than 30% of a population reported symptoms of headache and delirium (Helms et al., 2020). Covid-19's neurotropism is still debatable, uncertain and in the present case study patient with Covid-19 is identified. He suffered with extreme respiratory complications during hospitalization and eventually died.

20.
Brain Hemorrhages ; 2(2): 88-90, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34095787

RESUMO

BACKGROUND: Covid-19 pandemic has been manifested mainly as respiratory and constitutional symptoms. Though, it may demonstrate the involvement of other systems i.e. cardiovascular system (CVS), central nervous system (CNS) or gastrointestinal system (GI). DISCUSSION: Systemic manifestation of Covid-19 requires further research. Recent surveys revealed a few alarming facts about Covid-19, that, when it hits the brain, can cause some serious complications like; psychosis, stroke and dementia. CASE PRESENTATION: Here, the case is about two patients, having PCR confirmed Covid-19 and radiographic evidence of stroke, who eventually died during hospital stay. Data collection was done after informed consent and in retrospective manner.

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