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Rationale: Bronchiectasis is a pathological dilatation of the bronchi in the respiratory airways associated with environmental or genetic causes (e.g., cystic fibrosis, primary ciliary dyskinesia, and primary immunodeficiency disorders), but most cases remain idiopathic. Objectives: To identify novel genetic defects in unsolved cases of bronchiectasis presenting with severe rhinosinusitis, nasal polyposis, and pulmonary Pseudomonas aeruginosa infection. Methods: DNA was analyzed by next-generation or targeted Sanger sequencing. RNA was analyzed by quantitative PCR and single-cell RNA sequencing. Patient-derived cells, cell cultures, and secretions (mucus, saliva, seminal fluid) were analyzed by Western blotting and immunofluorescence microscopy, and mucociliary activity was measured. Blood serum was analyzed by electrochemiluminescence immunoassay. Protein structure and proteomic analyses were used to assess the impact of a disease-causing founder variant. Measurements and Main Results: We identified biallelic pathogenic variants in WAP four-disulfide core domain 2 (WFDC2) in 11 individuals from 10 unrelated families originating from the United States, Europe, Asia, and Africa. Expression of WFDC2 was detected predominantly in secretory cells of control airway epithelium and also in submucosal glands. We demonstrate that WFDC2 is below the limit of detection in blood serum and hardly detectable in samples of saliva, seminal fluid, and airway surface liquid from WFDC2-deficient individuals. Computer simulations and deglycosylation assays indicate that the disease-causing founder variant p.Cys49Arg structurally hampers glycosylation and, thus, secretion of mature WFDC2. Conclusions: WFDC2 dysfunction defines a novel molecular etiology of bronchiectasis characterized by the deficiency of a secreted component of the airways. A commercially available blood test combined with genetic testing allows its diagnosis.
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Bronquiectasia , Pólipos Nasales , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Bronquiectasia/genética , Bronquiectasia/fisiopatología , Pólipos Nasales/genética , Proteína 2 de Dominio del Núcleo de Cuatro Disulfuros WAPRESUMEN
BACKGROUND AND OBJECTIVES: Fasting is the basis for the ketogenic diet, and intermittent fasting is emerging as a treatment for epilepsy. There are no available data about the role of Islamic fasting on seizure control. This study aims to assess the effect of Ramadan fasting on the frequency of different seizure types. METHODS: This was a prospective observational study on Muslim patients with active epilepsy intending to fast during Ramadan in the year 2019, with an average of 16 fasting hours per day. Seizure frequency for each seizure type was followed over three months, one month before (Shaaban), during Ramadan and one month after (Shawwal), after ensuring drug compliance. RESULTS: Three hundred and twenty one Muslim patients with active epilepsy with median age of 33 years were included (some patients had more than one type of seizure). In Ramadan, 86 out of 224 patients with focal seizures, 17 out of 38 patients with myoclonic seizures and 6 out of 10 patients with absence seizures showed ≥ 50% reduction. In Shawaal, such improvement continued to include 83, 13 and 4 patients with focal, myoclonic and absence seizures. Focal and myoclonic seizures were significantly improved in the months of Ramadan and Shawaal compared to Shaaban. However, absence seizures were significantly improved only in Ramadan compared with Shaaban. The frequency of generalized tonic-clonic seizures did not significantly differ between the three months. DISCUSSION: Ramadan fasting may have an improving effect, as well as a post-fasting effect, on active focal, myoclonic and absence seizures.
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Epilepsia , Ayuno , Adulto , Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Humanos , Islamismo , Estudios Prospectivos , Convulsiones/tratamiento farmacológicoRESUMEN
BACKGROUND: Anecdotal reports have proposed that diet might influence the occurrence of seizures. OBJECTIVES: Our objectives were to assess nutritional status in a sample of patients with epilepsy and to investigate the impact of nutrition on epilepsy control. PATIENTS AND METHODS: One hundred and fifty patients with epilepsy participated in the study. To assess nutritional status, sociodemographic characteristics, anthropometric measurements, dietary food intake, and 24-hour food intake were evaluated. Patients answered questions using a food frequency questionnaire. RESULTS: In patients with epilepsy, there was insufficient intake of water, fiber, potassium, magnesium and some vitamins (C, E, B12, folate and niacin); suboptimal intake of calories, zinc, calcium, and some vitamins (A, B1 and B6); optimal intake of total fats; and over-intake of proteins, carbohydrates, phosphorus, iron, sodium, and vitamins D and B2. Moreover, there was a statistically significant difference between patients with controlled versus uncontrolled seizures regarding frequency of vegetable intake and percentage of caloric intake from the recommended dietary allowance. Stepwise logistic regression indicated that those with low intake of vegetables had a 2.3 times higher likelihood of uncontrolled seizure occurrence compared to those with a high intake of vegetables per week. Also, those with optimal caloric intake were 80% less likely to have uncontrolled seizures than those with too much caloric intake. CONCLUSION: Macro- and micronutrient intake were unbalanced in patients with epilepsy. Patients who consumed too many calories and too few vegetables were more likely to have improper seizure control.
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Epilepsia , Niacina , Calcio , Estudios Transversales , Dieta , Carbohidratos de la Dieta , Grasas de la Dieta , Ingestión de Alimentos , Ingestión de Energía , Ácido Fólico , Humanos , Hierro , Magnesio , Estado Nutricional , Fósforo , Potasio , Convulsiones , Sodio , Verduras , Vitaminas , Agua , ZincRESUMEN
OBJECTIVE: To study Ramadan's effect on migraine from the start to the end of the month and the tolerability of patients with migraine to fasting. BACKGROUND: Fasting is a well-known trigger for migraine. Whether this effect on migraine is the same throughout the whole month, or whether it varies from the first to the last days of the month, has not been studied yet. METHODS: A prospective cohort observational study was carried out on persons with migraine who fasted from 24 April to 23 May during Ramadan 2020. Each patient was asked to fill out their headache diary starting from Shaaban (the month before Ramadan) to the end of Ramadan. The Ramadan diary was divided by 10 days each, by which the patient was asked to accurately describe their migraine attacks in terms of frequency, duration, and intensity by using the Visual Analog Scale. Migraine attacks during the first day of fasting were assessed separately. RESULTS: A total of 292 known persons with migraine from Egypt completed the study. Their median age was 33 years; 72/292 (24.7%) were male, and 220/292 (75.3%) were female. About 126/236 (53.4%) of the patients had migraine attacks on Ramadan's first day, most of them during fasting. The frequency of migraine attacks was significantly increased in Ramadan (median 4, interquartile range [IQR] 2-7) compared with Shaaban (median 3, IQR 1-6), p = 0.009. The number of attacks was significantly reduced in both the second (median 1, IQR 0-2.25) and the third 10 days of Ramadan (median 1, IQR 1-3) compared with the first 10 days (median 3, IQR 1-5) (p < 0.001 for each). CONCLUSION: Ramadan's potential exacerbating effect on the frequency of migraine attacks should be discussed with patients with migraine. This effect appears to be limited to the first 10 days of Ramadan and then subsides with successive days of fasting.
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Ayuno/efectos adversos , Islamismo , Trastornos Migrañosos/etiología , Adulto , Estudios de Cohortes , Egipto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios ProspectivosRESUMEN
OBJECTIVES: Headache is considered one of the most frequent neurological manifestations of coronavirus disease 2019 (COVID-19). This work aimed to identify the relative frequency of COVID-19-related headache and to clarify the impact of clinical, laboratory findings of COVID-19 infection on headache occurrence and its response to analgesics. DESIGN: Cross-sectional study. SETTING: Recovered COVID-19 patients. SUBJECTS: In total, 782 patients with a confirmed diagnosis of COVID-19 infection. METHODS: Clinical, laboratory, and imaging data were obtained from the hospital medical records. Regarding patients who developed COVID-19 related headache, a trained neurologist performed an analysis of headache and its response to analgesics. RESULTS: The relative frequency of COVID-19 related headache among our sample was 55.1% with 95% confidence interval (CI) (.516-.586) for the estimated population prevalence. Female gender, malignancy, primary headache, fever, dehydration, lower levels of hemoglobin and platelets and higher levels of neutrophil/lymphocyte ratio (NLR) and CRP were significantly associated with COVID-19 related headache. Multivariate analysis revealed that female gender, fever, dehydration, primary headache, high NLR, and decreased platelet count were independent predictors of headache occurrence. By evaluating headache response to analgesics, old age, diabetes, hypertension, primary headache, severe COVID-19, steroid intake, higher CRP and ferritin and lower hemoglobin levels were associated with poor response to analgesics. Multivariate analysis revealed that primary headache, steroids intake, moderate and severe COVID-19 were independent predictors of non-response to analgesics. DISCUSSION: Headache occurs in 55.1% of patients with COVID-19. Female gender, fever, dehydration, primary headache, high NLR, and decreased platelet count are considered independent predictors of COVID-19 related headache.
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COVID-19 , Estudios Transversales , Egipto/epidemiología , Femenino , Cefalea/diagnóstico , Cefalea/epidemiología , Hospitales , Humanos , Factores de Riesgo , SARS-CoV-2RESUMEN
BACKGROUND: School Health insurance (SHI) is working in Egypt since 2003. However, there were no impact indicators that inform policy makers about health status of school children. Therefore, the school health project was conducted by Arab Medical Union (AMU) Medical Syndicate in cooperation with Ministry of Education (MOE), Ministry of Health and Population (MOHP) and Public Health Department, Cairo University to conduct comprehensive medical services to primary school children and to assess the impact of the SHI and the efficiency of AMU project to promote health of children. METHODS: In-depth interview with policy makers in MOHP, MOE, SHI and secondary analysis of AMU documents. A systematic random sample of 7000 students (7-10 years) was selected which formed 10% of the examined children in AMU project and proportionally distributed in 355 schools in seven Districts in Fayoum Governorate. RESULTS: SHI was ineffective in providing preventive services to school children. The AMU project was efficient in covering 82% of the targeted students with clinical, preventive and referral services with estimated cost per student were 54.8LE. Clinical findings showed anaemia the major problem (84%), dental (33%), hair/scalp (9%) and visual errors (6%). CONCLUSION: The current Primary Health Care facilities needs to improve the quality preventive and curative health services provided to school children. Also, providing health services through medical conveys was of high cost and unsustainable.
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Promoción de la Salud , Instituciones Académicas , Niño , Egipto , Humanos , Servicios Preventivos de Salud , EstudiantesRESUMEN
OBJECTIVE: To study the characteristics of headache attributed to COVID-19 infection and predictors of its severity. METHODS: A cross-sectional study involved 172 individuals who had headache due to COVID-19 infection. A detailed analysis of such headache was done through a face-to-face interview. Patients with any other form of secondary headache were excluded. Labs, including lymphocytic count, C-reactive protein, D-dimer and ferritin and chest imaging, were made available. RESULTS: THE: majority of our patients had a diffuse headache (52.9%). It was pressing in 40.7%, with median intensity of 7 (assessed by visual analogue scale) and median frequency of 7 days/week. Patients with preexisting primary headache (52.9%) had significantly more frequent COVID-19 related headache than those without (47.1%) (p = 0.001). Dehydrated patients (64.5%) had more frequent COVID-19 related headache than those who were not dehydrated (35.5%) (p = 0.029). Patients with fever (69.8%) had significantly higher frequency and intensity of COVID-19 related headache compared to those without fever (30.2%) (p = 0.003, 0.012). Patients with comorbidities (19.8%) had significantly higher frequency and intensity of headache than those without comorbidities (80.2%) (p = 0.006, 0.003). After multiple linear regression, primary headache disorders, dehydration and comorbidities were considered predictors of frequency of COVID-19 related headache. Meanwhile, fever and dehydration were predictors of pain intensity. CONCLUSION: Healthcare providers of COVID-19 patients need to be aware of frequency and intensity predictors of COVID-19 related headache: Primary headache disorders, fever, dehydration, and comorbidities.
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Infecciones por Coronavirus/complicaciones , Cefalea/epidemiología , Cefalea/virología , Neumonía Viral/complicaciones , Adulto , Betacoronavirus , COVID-19 , Estudios Transversales , Femenino , Humanos , Masculino , Pandemias , SARS-CoV-2RESUMEN
The Egyptian Ministry of Health and Population surveillance system provides data about notifiable communicable diseases. This study aimed to provide information for decision-making to reduce the burden of communicable diseases in Egypt by analysis of the surveillance data for 2006-2013 to identify trends in the incidence of the diseases by governorate, season, age and sex. Composite risk-index scores were estimated to rank the 27 Egyptian governorates into 3 groups: high, medium and low risk. The 15 diseases with the highest incidence were food and waterborne diseases (5 diseases), vaccine-preventable diseases (7 diseases) and others, e.g. hepatitis C infection. Bloody diarrhoea and typhoid had the high incidence for 2006-2013. There were 11 high-risk governorates; Ismailia had the highest risk-index score. The findings suggest the need for specific interventions related to environmental sanitation and improving the childhood immunization programme, particularly in the high-risk governorates.
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Control de Enfermedades Transmisibles/organización & administración , Enfermedades Transmisibles/epidemiología , Toma de Decisiones , Egipto/epidemiología , Humanos , Programas de Inmunización , Incidencia , Vigilancia de la Población , SaneamientoRESUMEN
BACKGROUND: Injuries are a major cause of childhood morbidity and mortality worldwide. We aimed to determine the magnitude and characteristics of child injuries in Egypt and to identify the associated risk factors. METHODS: A community-based, cross-sectional survey was conducted over 27 Egyptian governorates from June to October, 2011. The target population was 1977 households with children aged 0-18 years who had experienced accidental injuries. RESULTS: In the 6-month period before the investigation, 1576 injuries were reported in 1472 children from a sample population of 1399 households (response rate 70.8 %). Falls (25 %) and burn injuries (20.3 %) were the most common accidental injuries. The incidence of these injuries was significantly higher among boys (57.2 %) than girls and in children aged 2-6 years (70 %) compared with older and younger children. The five main causes of injuries were wounds (30.6 %), fractures (28.7 %), burns (20.3 %), swallowing a foreign body (8.4 %) and accidentally ingesting a poison (7.8 %). Injuries from drowning (n = 27), animal bites (n = 22) and sunstroke (n = 20) mostly occurred in rural children, accounting for 65 %, 54.4 % and 52 %, respectively, of all injuries in rural children. Home and its immediate surroundings (64.4 %) was the most common setting for injuries. Maternal age, education and working status were also associated with childhood injuries (p < 0.05). Children of second and third birth order were at higher risk for injuries (p < 0.0001). CONCLUSIONS: Childhood injuries account for a substantial healthcare burden in Egypt. Our findings emphasise the importance of developing national preventive programs designed to reduce the incidence of childhood injuries.
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Accidentes/estadística & datos numéricos , Heridas y Lesiones/epidemiología , Accidentes por Caídas/mortalidad , Accidentes Domésticos/estadística & datos numéricos , Adolescente , Distribución por Edad , Quemaduras/mortalidad , Niño , Preescolar , Estudios Transversales , Ahogamiento/mortalidad , Egipto/epidemiología , Femenino , Fracturas Óseas/epidemiología , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Morbilidad , Características de la Residencia , Factores de Riesgo , Población Rural/estadística & datos numéricos , Distribución por Sexo , Encuestas y CuestionariosRESUMEN
OBJECTIVE: Stroke incidence among young adults has risen in the last decade. This research attempts to determine the effect of substance use disorder (SUD) on the clinical characteristics of stroke, mortality, outcome after IV thrombolysis, and functional dependency after 1 month among young adults. METHODS: Through a retrospective study, data were extracted from the electronic medical records of stroke in young adults admitted to intensive care units in Kasr Al-Ainy Hospital (February 2018-January 2021). The National Institute of Health Stroke Scale (NIHSS) and the Modified Rankin Scale were documented at the onset and after 1 month. RESULTS: The study included 225 young adults with stroke (median age of 40, IQR: 34-44). Only 93 young adults (41%) met the criteria of SUD. Anabolic steroid use disorder was significantly associated with cerebral venous thrombosis (P-value = 0.02), while heroin use disorder was significantly associated with a hemorrhagic stroke (P-value = 0.01). Patients with tramadol, cannabis, and cocaine use disorders had significantly more frequent strokes in the posterior than the anterior circulation. Patients with heroin use disorders had significantly higher mortality than those without heroin use disorders (P-value = 0.01). The risk of poor outcomes was doubled by alcohol or heroin use disorder, while it was tripled by cocaine use disorder (P-value = 0.01 for each). CONCLUSION: Forty-one percent of young adults diagnosed with a stroke had SUD, with a relatively higher posterior circulation involvement. Increased mortality was associated with heroin use disorder more than other substances. Poor stroke outcome was associated with alcohol, heroin, and cocaine use disorders.
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Cocaína , Accidente Cerebrovascular , Trastornos Relacionados con Sustancias , Humanos , Adulto Joven , Heroína , Estudios Retrospectivos , Trastornos Relacionados con Sustancias/complicaciones , Trastornos Relacionados con Sustancias/epidemiología , Trastornos Relacionados con Sustancias/diagnóstico , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiologíaRESUMEN
Defects in motile cilia, termed motile ciliopathies, result in clinical manifestations affecting the respiratory and reproductive system, as well as laterality defects and hydrocephalus. We previously defined biallelic MNS1 variants causing situs inversus and male infertility, mirroring the findings in Mns1-/- mice. Here, we present clinical and genomic findings in five newly identified individuals from four unrelated families affected by MNS1-related disorder. Ciliopathy panel testing and whole exome sequencing identified one previously reported and two novel MNS1 variants extending the genotypic spectrum of disease. A broad spectrum of laterality defects including situs inversus totalis and heterotaxia was confirmed. Interestingly, a single affected six-year-old girl homozygous for an MNS1 nonsense variant presented with a history of neonatal respiratory distress syndrome, recurrent respiratory tract infections, chronic rhinitis, and wet cough. Accordingly, immunofluorescence analysis showed the absence of MNS1 from the respiratory epithelial cells of this individual. Two other individuals with hypomorphic variants showed laterality defects and mild respiratory phenotype. This study represents the first observation of heterotaxia and respiratory disease in individuals with biallelic MNS1 variants, an important extension of the phenotype associated with MNS1-related motile ciliopathy disorder.
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Alelos , Niño , Preescolar , Femenino , Humanos , Masculino , Cilios/patología , Cilios/genética , Ciliopatías/genética , Ciliopatías/patología , Linaje , Fenotipo , Lactante , AdolescenteRESUMEN
Recently, identifying performance indicators and developing measurement frameworks have become crucial concerns. Our study first sought to analyze service statistics of Primary Health Care (PHC) facilities for the years 2017 and 2018 to develop PHC key performance indicators (KPI).This was then followed by a thorough discussion of these KPIs with staff and service providers. Finally, re-rating these PHC (KPI) changes by analyzing service statistics infographs for 2017 and 2018 relative to 2019. El-Aiat Health District-Giza Governorate and its 15 PHC facilities served as the study's setting. A quasi-experimental intervention design was used based on operation research with quantitative and qualitative data analysis. The pre-test consisted of a mathematical analysis of service and vital statistics for 2017 and 2018 to calculate composite indices and create infographs (simple colored matrices) for these indices. The intervention included two discussion meetings (2 h each). It included reviewing the Performance Knowledge Matrices (infographs) with the service providers for subsequent problem specification, solving, and suggestion extraction to enhance performance. The SWOC (Strengths, Weaknesses, Opportunities, and Challenges) framework was used to analyze the qualitative data extracted from these conversations. Among the identified flaws were a deficiency in the number of physicians and nurses, inadequate training, insufficient work environments, and a lack of moral appreciation and recognition for the staff. The proposed solutions include providing health education services by nurses and follow-up services in certain units via home visits and mobile clinics. Post-test also entailed analyzing service and vital statistics for 2019 and redisplaying KPI infographics. Four of fifteen PHC facilities achieved a positive response based on the staff-suggested info-action-based intervention, according to our findings after comparing data for the pre-intervention and post-intervention periods of 2017-2018 and 2019. We concluded that reviewing the information derived from the "knowledge performance colored matrix" inspired district and PHC service providers to identify their weaknesses (avoided them as much as possible) and their strengths (practiced the solutions they suggested themselves) in the meetings which eventually improved their performance. Ultimately, the outcome scores and impact indicators of the provided PHC services were enhanced.
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Accesibilidad a los Servicios de Salud , Servicios de Salud , Humanos , Evaluación de Programas y Proyectos de Salud , Atención Primaria de SaludRESUMEN
BACKGROUND: Moderate and severe COVID-19 patients typically present with pneumonia. In this study we aimed to detect the occurrence of pulmonary residuals as a late sequela of COVID-19 and to identify it's predictors among moderate and severe cases. METHODS: This observational prospective study involved 85 COVID-19 patients confirmed by real time polymerase chain reaction (RT-PCR) nasopharyngeal swab, patients were recruited in the period of 1 st of June to 1 st of July. Demographic and clinical data were obtained for each patient. Chest imaging was performed initially and after 3 weeks to detect post COVID pulmonary residuals. RESULTS: The study population included 74 (87.1%) moderate and 11 (12.9%) severe patients. Patients with older age, male gender, high BMI and initial chest CT of consolidation/mixed consolidation and ground glass opacities (GGOs) had more frequent post COVID-19 pulmonary residuals (P 0.003, 0.026, 0.031, 0.035) respectively. There was a statistically significant difference between patients who showed complete resolution and patients who developed pulmonary residuals regarding the lymphocyte count, serum CRP and ferritin levels (P 0.0001). After logistic regression, male gender, high BMI, initial chest CT of consolidation/mixed consolidation and GGOs, lymphocytopenia, high serum CRP and ferritin levels were the predictors of pulmonary residuals. While the age wasn't statistically significant. CONCLUSION: 38.5% of moderate and severe COVID-19 patients tend to have pulmonary residuals. Independent predictors of pulmonary residuals as a sequela of COVID-19 are male gender, high BMI, initial chest CT of consolidation and mixed consolidation/GGOs, lymphocytopenia, high serum CRP and ferritin levels.
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COVID-19/complicaciones , COVID-19/diagnóstico por imagen , Pulmón/diagnóstico por imagen , Fibrosis Pulmonar/epidemiología , SARS-CoV-2/aislamiento & purificación , Tórax/diagnóstico por imagen , Adulto , Anciano , COVID-19/epidemiología , COVID-19/terapia , Prueba de Ácido Nucleico para COVID-19 , Humanos , Masculino , Persona de Mediana Edad , Nasofaringe/virología , Estudios Prospectivos , Fibrosis Pulmonar/diagnóstico por imagen , Reacción en Cadena en Tiempo Real de la Polimerasa , SARS-CoV-2/genética , Tomografía Computarizada por Rayos X/métodos , Resultado del TratamientoRESUMEN
INTRODUCTION: Primary nephrotic syndrome (NS) is a common glomerular disease in children. We assessed the genotypes and frequency of the rs5370 allelic variant of the EDN1 gene in children with primary NS. PATIENTS AND METHODS: We conducted a case-control study in Mansoura University Children's Hospital, Egypt between December 2015 and January 2018. We recruited 50 patients with steroid-sensitive NS (SSNS) and 50 patients with steroid-resistant NS (SRNS) in addition to 100 healthy controls. The patients underwent clinical evaluations and tests including measurement of serum albumin, cholesterol, creatinine and urea levels and a 24-h urinary protein test. We used polymerase chain reaction methods to assess the genotypes of rs5370 variants of the EDN1 gene (GG, GT and TT) and alleles (T and G) in the groups under study. RESULTS: The most frequent genotype of the EDN1 gene at the locus of interest in the control group was the GT genotype (88%; P=.001) while the GG genotype was more frequent in the NS group compared to the control group (P=.02). We did not find statistically significant differences between the NS and control groups in regard to the EDN1 rs5370 alleles (P=.69). The GG genotype was more frequent in the SSNS group compared to the SRNS and control groups (P=.03). When we compared allele frequencies between the control, SSNS and SRNS groups, we did not find significant differences (P=.89). The GT genotype was associated with normal blood pressure in children with NS (P=.007), while the GG genotype was associated with hypertension (P<.001). We did not find statistically significant differences in renal histopathology or serum cholesterol levels based on the genotype. CONCLUSIONS: The GG genotype at the rs5370 locus of the EDN1 gene may be associated with an increased risk of primary NS and a better response to steroid therapy.
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Endotelina-1 , Síndrome Nefrótico , Estudios de Casos y Controles , Niño , Endotelina-1/genética , Frecuencia de los Genes , Humanos , Síndrome Nefrótico/genética , Polimorfismo GenéticoRESUMEN
BACKGROUND: Equitable access to essential medicines of maintained efficacy, safety, quality, and cost-effectiveness must be ensured by a well-functioning health system. This study aims to identify the determinants of patients' access to medicines at the primary health care (PHC) level from the perspectives of various (internal and external) stakeholders of the pharmaceutical system. METHODS: The study employed both quantitative and qualitative components. Quantitative component applied a descriptive a cross-sectional design and qualitative component applied an in-depth interview design. It was a health system research conducted at two (PHC) facilities (one urban and the other rural) in Egypt. It inquired upon political, economic, and managerial aspects of the pharmaceutical system utilizing the "Health System Assessment Approach: a How-To Manual" and the "WHO operational package for assessing, monitoring and evaluating country pharmaceutical situations." RESULTS: Analysis of the quantitative data extracted from the cross-sectional component with external stakeholders (patients) revealed that about one-third of patients in both facilities were unable to pay for the medicine. Patients in both settings took less than an hour to reach the PHC facility. The Percent of patients who believe that the private pharmacies' medicine is better than the PHC one was significantly higher in rural than urban group (24% and 10% respectively) and the percent of medicines dispensed was 50% and 66.7% in rural and urban groups respectively. Analysis of the qualitative data extracted from in-depth interviews with internal stakeholders (key informants from regulatory agencies, pharmaceutical industry, academia, pharmacists, and physicians) were summarized utilizing Strengths-Weaknesses-Opportunities-Challenges (SWOC) analysis approach. Various viewpoints toward the determinants of patients' access to medicines were disclosed. CONCLUSIONS: The Percent of medicines dispensed was insufficient in both rural and urban facilities. There is a need to invest in building trust in generic medicine quality in the government health facilities focusing on improving medicine availability and ensuring enough amounts of high-quality drugs. Although there are drug committees in the two studied PHC facilities for demonstrating the prescribing and dispensing policies, yet the system required to enforce these policies is still deficient.
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INTRODUCTION: Primary nephrotic syndrome (NS) is a common glomerular disease in children. We assessed the genotypes and frequency of the rs5370 allelic variant of the EDN1 gene in children with primary NS. PATIENTS AND METHODS: We conducted a case-control study in Mansoura University Children's Hospital, Egypt, between December 2015 and January 2018. We recruited 50 patients with steroid-sensitive NS (SSNS) and 50 patients with steroid-resistant NS (SRNS) in addition to 100 healthy controls. The patients underwent clinical evaluations and tests including measurement of serum albumin, cholesterol, creatinine and urea levels and a 24-hour urinary protein test. We used polymerase chain reaction methods to assess the genotypes of rs5370 variants of the EDN1 gene (GG, GT and TT) and alleles (T and G) in the groups under study. RESULTS: The most frequent genotype of the EDN1 gene at the locus of interest in the control group was the GT genotype (88%; P=.001) while the GG genotype was more frequent in the NS group compared to the control group (P=.02). We did not find statistically significant differences between the NS and control groups in regard to the EDN1 rs5370 alleles (P=.69). The GG genotype was more frequent in the SSNS group compared to the SRNS and control groups (P=.03). When we compared allele frequencies between the control, SSNS and SRNS groups, we did not find significant differences (P=.89). The GT genotype was associated with normal blood pressure in children with NS (P=.007), while the GG genotype was associated with hypertension (P<.001). We did not find statistically significant differences in renal histopathology or serum cholesterol levels based on the genotype. CONCLUSIONS: The GG genotype at the rs5370 locus of the EDN1 gene may be associated with an increased risk of primary NS and a better response to steroid therapy.
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PURPOSE: Ramadan fasting represents a challenge for both Muslim patients with epilepsy (MPWE) as well as their treating neurologists who aim to minimize the risk of fasting-related seizures. Several factors may contribute to the risk of fasting-related seizures such as the half-life of antiepileptic drugs (AEDs), seizure control before Ramadan, and sleep fragmentation. The aim of this work was to investigate these factors. METHODS: An observational prospective study included all MPWE who completed Ramadan fasting in 2019, about 16 h per day for 30 days. They were assessed regarding seizure control, AEDs, and sleep alterations using The Pittsburgh Sleep Quality Index. RESULTS: The study included 430 MPWE. The majority of patients (75.58%) completed Ramadan fasting without breakthrough seizures. Patients achieved successful Ramadan fasting were significantly younger, had shorter disease duration, longer periods of seizure freedom before Ramadan, more efficient and longer sleep hours. There was no significant difference between patients receiving monotherapy regimens with short versus intermediate long t½. Maximum seizure freedom before Ramadan and sleep hours were identified as independent predictors of successful Ramadan fasting, using multivariate analysis. Every extra week of being seizure free before Ramadan and every extra hour of sleep was associated with an increase in the probability of successful Ramadan fasting by 10% and 30%, respectively. CONCLUSION: Neurologists should guide their MPWE who wish to fast Ramadan about the risks and precautions. Proper seizure control and ensuring adequate sleep duration can increase the probability of a successful Ramadan fasting.
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Epilepsia , Ayuno/psicología , Islamismo , Humanos , Estudios Prospectivos , SueñoRESUMEN
BACKGROUND: In Egypt, around 1 million children are on the streets. Street children's health is an issue that is not well researched. The objective of the current study was to determine the health problems of a targeted group of street children seeking medical care and to generate a hypothesis about the positive/negative role of street children care organizations. METHODS: A cross-sectional study was done on 2169 street children who sought medical care at El-Basma clinic at the Center for Social and Preventive Medicine in Cairo University Children Hospital from January 2011 to July 2014. RESULTS: Respiratory illnesses and skin problems were the most prevalent conditions, affecting 485 (22.4%) and 359 (16.6%) of the patients, respectively. Psychological issues and trauma were significantly higher among the adolescent group. Respiratory and gastrointestinal problems were significantly higher among children aged less than 2 years. Genital and cardiac problems were significantly higher among those referred from organizations whereas trauma was significantly higher among those coming directly from the streets. A significant proportion of children at the extremes of the studied age spectrum were coming directly from the streets. Sexually transmitted infections were rare problems. CONCLUSIONS: Respiratory and skin diseases were the major morbidity problems among street children, especially adolescent males. Organizations afforded opportunities for access to different health care services.
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Jóvenes sin Hogar , Aceptación de la Atención de Salud/estadística & datos numéricos , Adolescente , Niño , Preescolar , Estudios Transversales , Egipto/epidemiología , Femenino , Hospitales Pediátricos , Humanos , Lactante , MasculinoRESUMEN
BACKGROUND: Obesity increases a person's risk of developing a number of noncommunicable diseases (NCDs), including, type 2 diabetes, coronary heart disease, hypertension, and certain cancers. The bioelectrical impedance analysis (BIA) has been considered as a safe, noninvasive, simple, and least expensive portable method for the evaluation of body composition in clinical practice. However, there is not enough information about its use in community-based surveys to detect the optimal cutoff point for the body fat percent (BF%) that could predict NCDs. OBJECTIVE: To identify the cutoff point for the BF%, at which NCD risk could be predicted compared with BMI and waist circumference (WC). METHODS: A community-based study was conducted in a randomly selected cluster located within the catchment area of Cairo University Hospitals. All ever-married women 20-49 years old and not currently pregnant (n=373) in the selected cluster were included in the study. A questionnaire was used for recoding data during the household survey. Portable equipment that estimates body composition (water, fat, protein, and bone) through BIA was used. RESULTS: Receiver operating characteristic curve analysis showed cutoff point for BF% of 37.5% (P=0.02) at the time of reporting hypertension, with 78% sensitivity and 40% specificity. For diagnosed diabetes, cutoff point for the BF% was 38.5% (P=0.005), with 71% sensitivity and 46% specificity. For diagnosed cardiovascular diseases, cutoff point for BF% was 38.5% (P=0.001) with 86% sensitivity and 47% specificity. For diagnosed joint diseases, cutoff point for BF% was 38.5% (P=0.005), with 67% sensitivity and 48% specificity. CONCLUSION AND RECOMMENDATIONS: BIA was effective in predicting and suggesting the cutoff points for the BF% associated with four types of NCDs (hypertension, cardiovascular, diabetes, and joint diseases). The use of BIA for women before the age of 20 years could guide strategies for reducing body fat and its risk of NCDs.
Asunto(s)
Composición Corporal/fisiología , Enfermedad Crónica/epidemiología , Obesidad/diagnóstico , Salud de la Mujer/estadística & datos numéricos , Adulto , Índice de Masa Corporal , Enfermedades Cardiovasculares/epidemiología , Diabetes Mellitus Tipo 2/epidemiología , Egipto , Impedancia Eléctrica , Femenino , Humanos , Hipertensión/epidemiología , Artropatías/epidemiología , Persona de Mediana Edad , Obesidad/epidemiología , Pronóstico , Adulto JovenRESUMEN
Introducción: El síndrome nefrótico (SN) primario es una glomerulopatía común en la edad pediátrica. Se evaluaron los genotipos y frecuencias alélicas del polimorfismo rs5370 del gen EDN1 en niños con SN primario.Pacientes y métodos: Estudio de casos y controles realizado en el Hospital Infantil Universitario de El Mansura, Egipto, de diciembre de 2015 a enero de 2018. Se seleccionó a 50 pacientes con SN corticosensible (SNCS) y a 50 con SN corticorresistente (SNCR), así como a 100 controles sanos. Además de una evaluación clínica de los pacientes, se hicieron pruebas de cuantificación de albúmina, colesterol, creatinina y urea séricas y de proteinuria en muestra de orina de 24 h. Se emplearon técnicas de reacción en cadena de la polimerasa para analizar los genotipos (GG, GT y TT) y los alelos (T y G) del polimorfismo rs5370 del gen EDN1 en los grupos en estudio.Resultados: El genotipo GT fue el más frecuente del polimorfismo rs5370 del gen EDN1 en el grupo de control (88%, p=0,001), mientras que el genotipo GG fue más frecuente en el grupo con SN que en el de control (p=0,02). No se encontraron diferencias estadísticamente significativas entre los grupos de SN y de control en los alelos del polimorfismo rs5370 (p=0,69). El genotipo GG fue más prevalente en el grupo de SNSC que en los grupos de SNRC y de control (p=0,03). Las diferencias en las frecuencias alélicas entre los grupos de SNRC, SNSC y de control no fueron significativas (p=0,89). El genotipo GT se asoció a una presión arterial normal en niños con SN (p=0,007) mientras que el genotipo GG se asoció a hipertensión (p<0,001). No se detectaron diferencias significativas en la histopatología renal ni en los niveles séricos de colesterol respecto al genotipo.Conclusiones: El genotipo GG del polimorfismo rs5370 del gen EDN1 podría asociarse a un riesgo mayor de desarrollar SN y a una respuesta más favorable al tratamiento con corticoides. (AU)
Introduction: Primary nephrotic syndrome (NS) is a common glomerular disease in children. We assessed the genotypes and frequency of the rs5370 allelic variant of the EDN1 gene in children with primary NS.Patients and methods: We conducted a case-control study in Mansoura University Children's Hospital, Egypt, between December 2015 and January 2018. We recruited 50 patients with steroid-sensitive NS (SSNS) and 50 patients with steroid-resistant NS (SRNS) in addition to 100 healthy controls. The patients underwent clinical evaluations and tests including measurement of serum albumin, cholesterol, creatinine and urea levels and a 24-hour urinary protein test. We used polymerase chain reaction methods to assess the genotypes of rs5370 variants of the EDN1 gene (GG, GT and TT) and alleles (T and G) in the groups under study.Results: The most frequent genotype of the EDN1 gene at the locus of interest in the control group was the GT genotype (88%; P=.001) while the GG genotype was more frequent in the NS group compared to the control group (P=.02). We did not find statistically significant differences between the NS and control groups in regard to the EDN1 rs5370 alleles (P=.69). The GG genotype was more frequent in the SSNS group compared to the SRNS and control groups (P=.03). When we compared allele frequencies between the control, SSNS and SRNS groups, we did not find significant differences (P=.89). The GT genotype was associated with normal blood pressure in children with NS (P=.007), while the GG genotype was associated with hypertension (P<.001). We did not find statistically significant differences in renal histopathology or serum cholesterol levels based on the genotype.Conclusions: The GG genotype at the rs5370 locus of the EDN1 gene may be associated with an increased risk of primary NS and a better response to steroid therapy. (AU)