scholarly journals Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Panayiotis K. Yiallouros ◽  
Andreas Μ. Matthaiou ◽  
Pinelopi Anagnostopoulou ◽  
Panayiotis Kouis ◽  
Malgorzata Libik ◽  
...  

Abstract Background Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the systematic recording of patients’ data. In this study, we aim to present data on the epidemiological, genotypic and phenotypic features of CF patients in the country from the most recent data collection in 2019, with particular emphasis on notable rare or unique cases. Results Overall, data from 52 patients are presented, 5 of whom have deceased and 13 have been lost to follow-up in previous years. The mean age at diagnosis was 7.2 ± 12.3 years, and the mean age of 34 alive patients by the end of 2019 was 22.6 ± 13.2 years. Patients most commonly presented at diagnosis with acute or persistent respiratory symptoms (46.2%), failure to thrive or malnutrition (40.4%), and dehydration or electrolyte imbalance (32.7%). Sweat chloride levels were diagnostic (above 60 mmol/L) in 81.8% of examined patients. The most common identified mutation was p.Phe508del (F508del) (45.2%), followed by p.Leu346Pro (L346P) (6.7%), a mutation detected solely in individuals of Cypriot descent. The mean BMI and FEV1 z-scores were 0.2 ± 1.3 and − 2.1 ± 1.7 across all age groups, respectively, whereas chronic Pseudomonas aeruginosa colonization was noted in 26.9% of patients. The majority of patients (74.5%) were eligible to receive at least one of the available CFTR modulator therapies. In 25% of patients we recovered rare or unique genotypic profiles, including the endemic p.Leu346Pro (L346P), the rare CFTR-dup2, the co-segregated c.4200_4201delTG/c.489 + 3A > G, and the polymorphism p.Ser877Ala. Conclusions CF patient registries are particularly important in small or isolated populations, such as in Cyprus, with rare or unique disease cases. Their operation is necessary for the optimization of clinical care provided to CF patients, enabling their majority to benefit from evolving advances in precision medicine.

2021 ◽  
Author(s):  
Panayiotis K. Yiallouros ◽  
Andreas M. Matthaiou ◽  
Pinelopi Anagnostopoulou ◽  
Panayiotis Kouis ◽  
Malgorzata Libik ◽  
...  

Abstract Background Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the systematic recording of patients’ data. In this study, we aim to present data on the epidemiological, genotypic and phenotypic features of CF patients in the country from the most recent data collection in 2019, with particular emphasis on notable rare or unique cases. Results Overall, data from 52 patients are presented, 5 of whom have deceased and 13 have been lost to follow-up in previous years. The mean age at diagnosis was 7.2 ± 12.3 years, and the mean age of 34 alive patients by the end of 2019 was 22.6 ± 13.2 years. Patients most commonly presented at diagnosis with acute or persistent respiratory symptoms (46.2%), failure to thrive or malnutrition (40.4%), and dehydration or electrolyte imbalance (32.7%). Sweat chloride levels were diagnostic (above 60 mmol/L) in 81.8% of examined patients. The most common identified mutation was p.Phe508del (F508del) (45.2%), followed by p.Leu346Pro (L346P) (6.7%), a mutation detected solely in individuals of Cypriot descent. The mean BMI and FEV1 z-scores were 0.2 ± 1.3 and − 2.1 ± 1.7 across all age groups, respectively, whereas chronic Pseudomonas aeruginosa colonization was noted in 26.9% of patients. The majority of patients (74.5%) were eligible to receive at least one of the available CFTR modulator therapies. In 25% of patients we recovered rare or unique genotypic profiles, including the endemic p.Leu346Pro (L346P), the rare CFTR-dup2, the co-segregated c.4200_4201delTG/c.489 + 3A > G, and the polymorphism p.Ser877Ala. Conclusions CF patient registries are particularly important in small or isolated populations, such as in Cyprus, with rare or unique disease cases. Their operation is necessary for the optimization of clinical care provided to CF patients, enabling their majority to benefit from evolving advances in precision medicine.


Author(s):  
James E. Peterman ◽  
Ross Arena ◽  
Jonathan Myers ◽  
Susan Marzolini ◽  
Philip A. Ades ◽  
...  

Background The importance of cardiorespiratory fitness for stratifying risk and guiding clinical decisions in patients with cardiovascular disease is well‐established. To optimize the clinical value of cardiorespiratory fitness, normative reference standards are essential. The purpose of this report is to extend previous cardiorespiratory fitness normative standards by providing updated cardiorespiratory fitness reference standards according to cardiovascular disease category and testing modality. Methods and Results The analysis included 15 045 tests (8079 treadmill, 6966 cycle) from FRIEND (Fitness Registry and the Importance of Exercise National Database). Using data from tests conducted January 1, 1974, through March 1, 2021, percentiles of directly measured peak oxygen consumption (VO 2peak ) were determined for each decade from 30 through 89 years of age for men and women with a diagnosis of coronary artery bypass surgery, myocardial infarction, percutaneous coronary intervention, or heart failure. There were significant differences between sex and age groups for VO 2peak ( P <0.001). The mean VO 2peak was 23% higher for men compared with women and VO 2peak decreased by a mean of 7% per decade for both sexes. Among each decade, the mean VO 2peak from treadmill tests was 21% higher than the VO 2peak from cycle tests. Differences in VO 2peak were observed among the age groups in both sexes according to cardiovascular disease category. Conclusions This report provides normative reference standards by cardiovascular disease category for both men and women performing cardiopulmonary exercise testing on a treadmill or cycle ergometer. These updated and enhanced reference standards can assist with patient risk stratification and guide clinical care.


2021 ◽  
Vol 162 (19) ◽  
pp. 746-753
Author(s):  
Anna Iljicsov ◽  
Dániel Bereczki ◽  
Balázs Dobi ◽  
Ferenc Oberfrank ◽  
Mónika Bálint ◽  
...  

Összefoglaló. Bevezetés: Mivel hazánkban a sclerosis multiplex gyakoriságáról, valamint életkori és nemi jellegzetességeiről az elmúlt évtizedekben – egészen 2020-ig – csak regionális jellegű felmérések készültek egy-egy centrum betegforgalma alapján, az újonnan diagnosztizált és már ismert betegek országos koreloszlásáról és annak időbeli változásairól nincsenek ismereteink. Célkitűzés: Jelen munkánkban több mint 14 000 beteg adatainak elemzésével a prevalens és incidens betegek koreloszlásának változását vizsgáljuk 2004–2016 során, és eredményeinket összevetjük az elmúlt évtizedekben közölt hazai adatokkal. Módszer: Munkacsoportunk az egészségbiztosítási pénztár anonimizált NEUROHUN adatbázisát elemezte, amely tartalmazza a 2004 és 2016 között az összes hazai, államilag finanszírozott, a fekvő- és járóbeteg-szakellátásból neurológiai diagnózissal jelentett esetet. A sclerosis multiplex BNO-kódjának előfordulása alapján korábban létrehoztuk a betegség adminisztratív definícióját, és megbecsültük a sclerosis multiplex országos prevalenciáját és incidenciáját. Eredmények: A prevalens betegek átlagéletkora 2015-ben 47,9 év, ugyanebben az évben az incidens betegek átlagéletkora 37,4 év volt. Vizsgálatunk szerint a prevalens betegek átlagéletkora szignifikánsan – évente egyötöd–egyharmad évvel (p<0,001) – emelkedik, mégpedig a nők esetében nagyobb mértékben. A nők átlagosan fél évvel idősebbek, mint a férfi páciensek (szignifikáns különbség: p = 0,002). A prevalens betegekben a legnépesebb korosztály az ötvenévesek felől a fiatalabb, 35–40 éves korosztály felé mozdul. Az incidens betegek átlagéletkora lassan, de szignifikánsan – évente átlagosan egyharmad évvel (p<0,001) – csökken. Következtetés: Eredményeink szerint az újonnan diagnosztizált sclerosis multiplexes páciensek átlagosan egyre fiatalabbak, és a prevalens betegek között is egyre fiatalabb korosztályok a legnépesebbek, de a javuló túlélés és a hosszabb élettartam miatt a prevalens betegek átlagéletkora összességében valószínűleg fokozatosan emelkedik. Orv Hetil. 2021; 162(19): 746–753. Summary. Introduction: The nationwide age and gender distribution of newly diagnosed and prevalent multiple sclerosis patients has been unknown in Hungary, as until 2020 only regional studies had been reported about the frequency and age characteristics of subjects with multiple sclerosis, based on single-center patient registries. Objective: In the present study with the analysis of over 14 000 patients, we describe the changes in age distribution of prevalent and incident subjects between 2004 and 2016 and compare our results with the data published on the subject during the last decades in Hungary. Method: We have analyzed the pseudonymized NEUROHUN database provided by the single-payer National Health Insurance Fund, that contains each claim submitted by public hospitals and outpatient services for neurologic diseases between 2004 and 2016. Using the ICD10-code of multiple sclerosis, we have previously established the administrative definition of the illness and estimated its prevalence and incidence in the country. Results: The mean age of prevalent patients was 47.9 years in 2015, whereas in the same year the mean age of incident cases was 37.4 years. The average age of prevalent patients shows a significant rise – with an annual increase of one fifth–one third year (p<0.001) – with a more pronounced increase among women. The age of women is higher by half a year (p = 0.002). The most populous age groups among prevalent subjects shift from the fifties towards the younger generations between 35–40 years of age. The average age of incident subjects slowly, but significantly decreases, with a mean annual decrease of about one third year (p<0.001). Conclusion: Our results suggest that though new patients are younger year-by-year and the most populous age groups are also younger, altogether the average age of prevalent subjects continuously increases, probably due to the longer survival and lifespan of patients with multiple sclerosis. Orv Hetil. 2021; 162(19): 746–753.


2020 ◽  
Author(s):  
James A. Ndako ◽  
Charles E. Okolie ◽  
Victor T. Dojumo ◽  
Victor O. Fajobi ◽  
Jeremiah A. Akinwumi

Abstract Background: Malaria is one of the most common diseased conditions across most developing countries caused by one of four species of Plasmodium. Electrolyte imbalance and mineral disturbances are majorly identified clinical symptoms in various infectious diseases including malaria. Malaria infection has also been shown to be associated with abnormalities in fluids, electrolytes and acid base balances which are capable of enhancing disease severity. The aim of this study was to investigate the effects of malaria infection on electrolytes parameters. Methods: Finger prick blood samples were collected from Two-Hundred (200) malaria-suspected subjects representing all age groups and gender. The Giemsa-stained blood smears were carefully examined according to standard procedure. Demographic information was obtained using structured questionnaires. Results: Pearson's Correlation Coefficient technique was used to investigate the relationship, and the strength of association between the variables. The mean bound of patients’ sodium level was observed to fall within the specified normal limits of 125mmol/L – 145mmol/L; except for positive malaria patients belonging to the MP-(++) which will fall below the 125mmol/L (i.e. 126.25mmol/L – 1.77mmol/L = 124.48mmol/L). Conclusion: In our study we found that Plasmodium falciparum showed more alteration in electrolytes parameters than Plasmodium vivax. This study discovered a significant linear relationship based on the Pearson product-moment correlation between creatinine and urea, potassium and chloride, potassium and creatinine, potassium and urea. The mean sodium and chloride level of positive malaria [MP-(++)] patients were observed to fall outside the normal limit.


Author(s):  
James A. Ndako ◽  
Charles E. Okolie ◽  
Victor T. Dojumo ◽  
Victor O. Fajobi ◽  
Jeremiah A. Akinwumi ◽  
...  

Background: Malaria is one of the most common diseased conditions across most developing countries caused by one of four species of Plasmodium. P. falciparum and P.vivax are the main agents responsible for malaria in Nigeria. Malarial infection has been shown to be associated with abnormalities in fluids, electrolytes and acid base balances. Electrolyte imbalance and mineral disturbances are majorly identified clinical symptoms in various infectious diseases including malaria. Electrolyte imbalance in malarial infection is capable of enhancing disease severity. The aim of this study was to investigate the effects of malarial infection on electrolytes parameters. Methods: Finger prick blood samples, Thick and Thin Giemsa-stained blood smears, were collected from 100 malaria-suspected individuals representing all age groups. The Giemsa-stained blood smears were examined microscopically. Demographic information was obtained using structured questionnaires. The electrolytes levels (Na, K, Cl- and HCO3-) in malarial patients were analyzed using standard procedures, Pearson's Correlation Coefficient correlation technique was used to investigate the relationship, and the strength of association between the variables. Results: The mean bound of patients&rsquo; sodium level was observed to fall within the specified normal limits of 125mmol/L &ndash; 145mmol/L; except for positive malaria patients belonging to the MP-(++) which will fall below the 125mmol/L (i.e. 126.25mmol/L &ndash; 1.77mmol/L = 124.48mmol/L). The spread of the sodium data taken from the patients were observed to fall within the normal limits leaving only the boxplot&rsquo;s lower whisker out, that is, observations falling within the first quartile, except for MP-(++) patients with observations in the first to second quartile spreading outside the normal lower limit, in contrast for the negative tested patients, the box and its whiskers were almost engulfed within the normal limits. Conclusion: In our study we found that Plasmodium falciparum altered more in electrolytes parameters than Plasmodium vivax. The biochemical markers can be used as biomarkers to confirmation of malaria. This study discovered a significant linear relationship based on the Pearson product-moment correlation between creatinine and urea, potassium and chloride, potassium and creatinine, potassium and urea. The mean sodium and chloride level of positive malaria [MP-(++)] patients were observed to fall outside the normal limit.


1970 ◽  
Vol 4 (2) ◽  
pp. 74-77
Author(s):  
Rukshana Ahmed ◽  
Shamim Ara

Pathological changes in the prostate gland occur commonly with advancing age including inflammation, atrophy, hyperplasia and carcinoma and a change in volume is also evident. Estimation of volume of prostate may be useful in a variety of clinical settings. A cross-sectional descriptive study was designed to see the changes in volume of the prostate with advancing age and done in the Department of Anatomy, Dhaka Medical College, Dhaka from August 2006 to June 2007. The study was performed on 70 post-mortem human prostates collected from the unclaimed dead bodies that were under examination in the Department of Forensic Medicine, Dhaka Medical College, Dhaka. The samples were divided into three age groups; group A (10-20 years), group B (21-40 years) and group C (41-70 years). Volume of the sample was measured by using the ellipsoid formula. The mean ± SD volume of prostate was 7.68 ± 3.64 cm3 in group A, 10.61 ± 3.99 cm3 in group B and 15.40 ± 6.31 cm3 in group C. Mean difference in volume between group A and group C, group B and group C were statistically significant (p<0.001). Statistically significant positive correlation was found between age and volume of prostate (r = + 0.579, p < 0.001). Key Words: Prostate; volume; Bangladeshi. DOI: 10.3329/imcj.v4i2.6501Ibrahim Med. Coll. J. 2010; 4(2): 74-77


Author(s):  
Gozde Serindere ◽  
Ceren Aktuna Belgin ◽  
Kaan Orhan

Background: There are a few studies about the evaluation of maxillary first premolars internal structure with micro-computed tomography (micro-CT). The aim of this study was to assess morphological features of the pulp chamber in maxillary first premolar teeth using micro- CT. Methods: Extracted 15 maxillary first premolar teeth were selected from the patients who were in different age groups. The distance between the pulp orifices, the diameter of the pulp and the width of the pulp chamber floor were measured on the micro-CT images with the slice thickness of 13.6 µm. The number of root canal orifices and the presence of isthmus were evaluated. Results: The mean diameter of orifices was 0.73 mm on the buccal side while it was 0.61 mm on palatinal side. The mean distance between pulp orifices was 2.84 mm. The mean angle between pulp orifices was -21.53°. The mean height of pulp orifices on the buccal side was 4.32 mm while the mean height of pulp orifices on the palatinal side was 3.56 mm. The most observed shape of root canal orifices was flattened ribbon. No isthmus was found in specimens. Conclusion: Minor anatomical structures can be evaluated in more detail with micro-CT. The observation of the pulp cavity was analyzed using micro-CT.


2020 ◽  
Author(s):  
Bankole Olatosi ◽  
Jiajia Zhang ◽  
Sharon Weissman ◽  
Zhenlong Li ◽  
Jianjun Hu ◽  
...  

BACKGROUND The Coronavirus Disease 2019 (COVID-19) caused by the severe acute respiratory syndrome coronavirus (SARS-CoV-2) remains a serious global pandemic. Currently, all age groups are at risk for infection but the elderly and persons with underlying health conditions are at higher risk of severe complications. In the United States (US), the pandemic curve is rapidly changing with over 6,786,352 cases and 199,024 deaths reported. South Carolina (SC) as of 9/21/2020 reported 138,624 cases and 3,212 deaths across the state. OBJECTIVE The growing availability of COVID-19 data provides a basis for deploying Big Data science to leverage multitudinal and multimodal data sources for incremental learning. Doing this requires the acquisition and collation of multiple data sources at the individual and county level. METHODS The population for the comprehensive database comes from statewide COVID-19 testing surveillance data (March 2020- till present) for all SC COVID-19 patients (N≈140,000). This project will 1) connect multiple partner data sources for prediction and intelligence gathering, 2) build a REDCap database that links de-identified multitudinal and multimodal data sources useful for machine learning and deep learning algorithms to enable further studies. Additional data will include hospital based COVID-19 patient registries, Health Sciences South Carolina (HSSC) data, data from the office of Revenue and Fiscal Affairs (RFA), and Area Health Resource Files (AHRF). RESULTS The project was funded as of June 2020 by the National Institutes for Health. CONCLUSIONS The development of such a linked and integrated database will allow for the identification of important predictors of short- and long-term clinical outcomes for SC COVID-19 patients using data science.


2003 ◽  
Vol 128 (1) ◽  
pp. 17-26 ◽  
Author(s):  
David J. Kay ◽  
Richard M. Rosenfeld

OBJECTIVE: The goal was to validate the SN-5 survey as a measure of longitudinal change in health-related quality of life (HRQoL) for children with persistent sinonasal symptoms. DESIGN AND SETTING: We conducted a before and after study of 85 children aged 2 to 12 years in a metropolitan pediatric otolaryngology practice. Caregivers completed the SN-5 survey at entry and at least 4 weeks later. The survey included 5 symptom-cluster items covering the domains of sinus infection, nasal obstruction, allergy symptoms, emotional distress, and activity limitations. RESULTS: Good test-retest reliability ( R = 0.70) was obtained for the overall SN-5 score and the individual survey items ( R ≥ 0.58). The mean baseline SN-5 score was 3.8 (SD, 1.0) of a maximum of 7.0, with higher scores indicating poorer HRQoL. All SN-5 items had adequate correlation ( R ≥ 0.36) with external constructs. The mean change in SN-5 score after routine clinical care was 0.88 (SD, 1.19) with an effect size of 0.74 indicating good responsiveness to longitudinal change. The change scores correlated appropriately with changes in related external constructs ( R ≥ 0.42). CONCLUSIONS: The SN-5 is a valid, reliable, and responsive measure of HRQoL for children with persistent sinonasal symptoms, suitable for use in outcomes studies and routine clinical care.


Author(s):  
Christina Oetzmann von Sochaczewski ◽  
Jan Gödeke

Abstract Purpose Collective evidence from single-centre studies suggests an increasing incidence of pilonidal sinus disease in the last decades, but population-based data is scarce. Methods We analysed administrative case–based principal diagnoses of pilonidal sinus disease and its surgical therapy between 2005 and 2017 in inpatients. Changes were addressed via linear regression. Results The mean rate of inpatient episodes of pilonidal sinus disease per 100,000 men increased from 43 in 2005 to 56 in 2017. In females, the mean rate of inpatient episodes per 100,000 women rose from 14 in 2005 to 18 in 2017. In the whole population, for every case per 100,000 females, there were 3.1 cases per 100,000 males, but the numbers were highly variable between the age groups. There was considerable regional variation within Germany. Rates of inpatient episodes of pilonidal sinus disease were increasing in almost all age groups and both sexes by almost a third. Surgery was dominated by excision of pilonidal sinus without reconstructive procedures, such as flaps, whose share was around 13% of all procedures, despite recommendations of the national guidelines to prefer flap procedures. Conclusion Rates of inpatient episodes of pilonidal sinus disease in Germany rose across almost all age groups and both sexes with relevant regional variation. The underlying causative factors are unknown. Thus, patient-centred research is necessary to explore them. This should also take cases into account that are solely treated office-based in order to obtain a full-spectrum view of pilonidal sinus disease incidence rates.


Sign in / Sign up

Export Citation Format

Share Document