BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly...BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly in preschool,with an average age of about(10.9±14.4)years old.CCNO is a pathogenic gene that regulates the cell cycle,and its mutation is linked to the uncommon human genetic disorder PCD.Although the prevalence of the CCNO mutation is regarded to be exceptionally low,new reports of this mutation have increased in comparison to prior ones.PCD patients with CCNO are rare,and the incidence rate is no more than 2%in whole PCD patients.CASE SUMMARY Here,we report a case of a young Chinese woman diagnosed with PCD,who was found to carry the CCNO gene by whole exon gene sequencing.In this case,a young non-smoking Chinese female exhibiting recurrent cough and sputum at birth.Chest computed tomography(CT)showed bronchiectasis with infection,and sinus CT showed chronic sinusitis.However,the patient had no visceral transposition and no history of infertility.Under electron microscope,it was found that cilia were short and reduced in number,and no power arm of cilia was observed.Whole exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene,exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation.Her clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral azithromycin.CONCLUSION The results showed that CCNO is an important cause of PCD.More mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has advanced.Furthermore,the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.展开更多
<strong>Introduction:</strong><span style="white-space:normal;font-size:10pt;font-family:;" "=""> The metabolic syndrome is a clinical entity defined by the association ...<strong>Introduction:</strong><span style="white-space:normal;font-size:10pt;font-family:;" "=""> The metabolic syndrome is a clinical entity defined by the association in the same subject of four of the following five factors: abdominal obesity (or android), type 2 diabetes, hypertension, hypo HDL cholesterolemia, hypertriglyceridemia. The aim of the work was to study the epidemiological, clinical-biological profiles and complications of patients in the cardiology and internal medicine department of the Mother-Child CHU “Luxembourg”. <b>Materials and Methods:</b> We carried out a cross-sectional study, from September 2019 to June 2020 in the cardiology and internal department of the mother-child CHU “Luxembourg”. All patients with metabolic syndrome admitted to the two departments who agreed to participate during the study period were included in the study. These patients meet the 2009 harmonization attempt criteria (IDF 2009). The variables studied were: socio-demographic characteristics (sex, age, profession), pathological history, clinical signs (functional signs, BMI, waist size), paraclinical signs (ECG, cardiac ultrasound, laboratory assessment) and complications. <b>Results:</b> A total of 104 patients were included. The female sex represented 58.65% of cases. The 60 to 69 age group was the majority with 40.78%, housewives occupied 41.34% of cases. Diabetes, arterial hypertension and dyslipidemia were the most represented cardiovascular risk factors with respectively: 80.77%, 79.81% and 53.85%. Visual blurring was the most common functional sign with 23.08% of cases. Moderate obesity was observed in 34% of patients. Waist circumference was high in 39.53% of male patients and 37.70% of female patients. Cardiac ultrasound found a severely collapsed ejection fraction in 25% of patients. HDL-c levels were low in 64.52% of male patients and 75% of female patients. The most observed complications were: dyslipidemia (53.85%), stroke and renal failure with 23% respectively</span><span style="white-space展开更多
The clinical manifestations of COVID-19,caused by the SARS-CoV-2,define a large spectrum of symptoms that are mainly dependent on the human host conditions.In Costa Rica,more than 169,000 cases and 2185 deaths were re...The clinical manifestations of COVID-19,caused by the SARS-CoV-2,define a large spectrum of symptoms that are mainly dependent on the human host conditions.In Costa Rica,more than 169,000 cases and 2185 deaths were reported during the year 2020,the pre-vaccination period.To describe the clinical presentations at the time of diagnosis of SARS-CoV-2 infection in Costa Rica during the pre-vaccination period,we implemented a symptom-based clustering using machine learning to identify clusters or clinical profiles at the population level among 18,974 records of positive cases.Profiles were compared based on symptoms,risk factors,viral load,and genomic features of the SARS-CoV-2 sequence.A total of 18 symptoms at time of diagnosis of SARS-CoV-2 infection were reported with a frequency>1%,and those were used to identify seven clinical profiles with a specific composition of clinical manifestations.In the comparison between clusters,a lower viral load was found for the asymptomatic group,while the risk factors and the SARS-CoV-2 genomic features were distributed among all the clusters.No other distribution patterns were found for age,sex,vital status,and hospitalization.In conclusion,during the pre-vaccination time in Costa Rica,the symptoms at the time of diagnosis of SARS-CoV-2 infection were described in clinical profiles.The host co-morbidities and the SARS-CoV-2 genotypes are not specific of a particular profile,rather they are present in all the groups,including asymptomatic cases.In addition,this information can be used for decision-making by the local healthcare institutions(first point of contact with health professionals,case definition,or infrastructure).In further analyses,these results will be compared against the profiles of cases during the vaccination period.展开更多
Background: Cervical cancer (CC) is one of the most frequent cancers and the leading cause of death from gynecological cancer in Low and middle income countries, Cameroon inclusive. Surgery is the primary treatment mo...Background: Cervical cancer (CC) is one of the most frequent cancers and the leading cause of death from gynecological cancer in Low and middle income countries, Cameroon inclusive. Surgery is the primary treatment modality when the disease is diagnosed at early stage. Radical hysterectomy in cervical cancer has not been evaluated in recent years in Cameroon. The purpose of this study is thus to evaluate the epidemiological and clinical features and short term outcomes of patients who underwent surgery. Patients and methods: This retrospective study was conducted at the Douala Gynaeco-obstetric and Pediatric Hospital and the Douala General Hospital. Cervical cancer patients who underwent Radical hysterectomy between January 2015 and December 2020 were included. A pre-established data collection tool was used to record socio-demographic, clinical and outcomes information from patients’ files;additional outcome information was obtained from phone calls. Descriptive analysis was done using the SPSS version 26. Bivariate analysis was used to determine associations between disease and patients characteristics and occurrence of adverse postoperative outcome. P value of 0.05 was considered. Results: Sixty one patients were enrolled. Their ages ranged from 33 to 74 years with a mean age of 51.95 ± 10.29 years. Over 85% of women were married, 65.57% were unemployed and 86.88% were multiparous. Only 28% had never done cervical cancer screening. Most patients had stage IB1 to IB2 stage disease (57.1%). Less than 9% underwent radical hysterectomy and 8 of those (13.11%) suffered intraoperative complications. Twenty-five patients (40.98%) presented immediate and short term complications. There was no significant association between the disease or patients’ characteristics and adverse outcomes. Conclusion: Cervical cancer patients are relatively young in our settings and only 9% of them reach the hospital at early stage. Postoperative adverse outcomes rate is higher than that reported in the literature. Sensitization on s展开更多
Introduction: since its creation, our urology department has taken care of tumor pathologies in particular kidney cancer in adults;our goal is to study the clinical and therapeutic epidemiological profiles of adult ki...Introduction: since its creation, our urology department has taken care of tumor pathologies in particular kidney cancer in adults;our goal is to study the clinical and therapeutic epidemiological profiles of adult kidney cancer in Mauritania. Materials and Methods: We carried out a retrospective study over a period of six years, from January 1, 2012 to December 31, 2017, including all cases of adult kidney cancer registered in the urology-andrology departments of the Cheikh Zayed Hospital and Pathological Anatomy of the National Hospital of Nouakchott (Mauritania). Results: we collected 50 cases of kidney cancer. The average annual incidence was 8.3 cases. The average age of the patients was 52.98 years with extremes of 18 and 84 years. There was a female predominance (52%) or 29 women for 21 men. Lumbar pain was the most frequent clinical expression, more than half of the patients had symptoms over a period of at least 12 months before the first consultation. The left kidney was the most frequently affected. The right localization was demonstrated in 23 patients, the extension assessment was made with thoraco-abdomino-pelvic CT in 40 patients. Twelve patients had a tumor localized in the kidney. The extension assessment had made it possible to objectify the existence of metastases in 17 of our patients (37%). The preferred locations of these metastases were pulmonary and hepatic. Surgical intervention was performed in 44 patients (88%), of whom 36 underwent radical nephrectomy (72%), and two patients underwent partial nephrectomy (4.5%). Surgical abstention was decided from the outset in 6 patients (13.6%). None of our patients had received treatment with anti-angiogenics. The histological type most observed in our patients was renal cell carcinoma, observed in 34 patients, or 77.72%. At the time of the study, more than a third of the patients had died. The mortality rate in our series had reached 24%. A specific survival rate could not be assessed due to lack of information in the files and significant numbers展开更多
Ruin Moaddel is currently a Staff Scientist in the Laboratory of Clinical Investigation at the National Institute on Aging,Baltimore,MD,USA.He obtained his Ph.D.at Northeastern University in 1999 followed by postdocto...Ruin Moaddel is currently a Staff Scientist in the Laboratory of Clinical Investigation at the National Institute on Aging,Baltimore,MD,USA.He obtained his Ph.D.at Northeastern University in 1999 followed by postdoctoral studies at Georgetown University.展开更多
文摘BACKGROUND Primary ciliary dyskinesia(PCD)is an uncommon and genetically diverse condition.According to reports,most patients had more than 50 visits before being diagnosed with PCD,and the age at diagnosis was mostly in preschool,with an average age of about(10.9±14.4)years old.CCNO is a pathogenic gene that regulates the cell cycle,and its mutation is linked to the uncommon human genetic disorder PCD.Although the prevalence of the CCNO mutation is regarded to be exceptionally low,new reports of this mutation have increased in comparison to prior ones.PCD patients with CCNO are rare,and the incidence rate is no more than 2%in whole PCD patients.CASE SUMMARY Here,we report a case of a young Chinese woman diagnosed with PCD,who was found to carry the CCNO gene by whole exon gene sequencing.In this case,a young non-smoking Chinese female exhibiting recurrent cough and sputum at birth.Chest computed tomography(CT)showed bronchiectasis with infection,and sinus CT showed chronic sinusitis.However,the patient had no visceral transposition and no history of infertility.Under electron microscope,it was found that cilia were short and reduced in number,and no power arm of cilia was observed.Whole exon sequencing analysis of the genome of the patient showed that the patient carried CCNO pathogenic gene,exon c.303C>A nonsense mutation and c.248_252dup frameshift mutation.Her clinical symptoms and CT images were improved after two months of treatment with aerosol inhalation and oral azithromycin.CONCLUSION The results showed that CCNO is an important cause of PCD.More mutant genes that may contribute to genetically diverse disorders like PCD have been discovered as sequencing technology has advanced.Furthermore,the increase of genetic information makes it easier to diagnose uncommon diseases in clinical practice.
文摘<strong>Introduction:</strong><span style="white-space:normal;font-size:10pt;font-family:;" "=""> The metabolic syndrome is a clinical entity defined by the association in the same subject of four of the following five factors: abdominal obesity (or android), type 2 diabetes, hypertension, hypo HDL cholesterolemia, hypertriglyceridemia. The aim of the work was to study the epidemiological, clinical-biological profiles and complications of patients in the cardiology and internal medicine department of the Mother-Child CHU “Luxembourg”. <b>Materials and Methods:</b> We carried out a cross-sectional study, from September 2019 to June 2020 in the cardiology and internal department of the mother-child CHU “Luxembourg”. All patients with metabolic syndrome admitted to the two departments who agreed to participate during the study period were included in the study. These patients meet the 2009 harmonization attempt criteria (IDF 2009). The variables studied were: socio-demographic characteristics (sex, age, profession), pathological history, clinical signs (functional signs, BMI, waist size), paraclinical signs (ECG, cardiac ultrasound, laboratory assessment) and complications. <b>Results:</b> A total of 104 patients were included. The female sex represented 58.65% of cases. The 60 to 69 age group was the majority with 40.78%, housewives occupied 41.34% of cases. Diabetes, arterial hypertension and dyslipidemia were the most represented cardiovascular risk factors with respectively: 80.77%, 79.81% and 53.85%. Visual blurring was the most common functional sign with 23.08% of cases. Moderate obesity was observed in 34% of patients. Waist circumference was high in 39.53% of male patients and 37.70% of female patients. Cardiac ultrasound found a severely collapsed ejection fraction in 25% of patients. HDL-c levels were low in 64.52% of male patients and 75% of female patients. The most observed complications were: dyslipidemia (53.85%), stroke and renal failure with 23% respectively</span><span style="white-space
基金This work was funded by Instituto Costarricense de Investigación y Enseñanza en Nutrición y Salud(INCIENSA,DG-of-2020-174)Vicerrectoría de Investigación-Universidad de Costa Rica,with the Project“C0196 Protocolo bioinformático y de inteligencia artificial para el apoyo de la vigilancia epidemiológica basada en laboratorio del virus SARS-CoV-2 mediante la identificación de patrones genómicos y clínico-demográficos en Costa Rica(2020-2022)”.
文摘The clinical manifestations of COVID-19,caused by the SARS-CoV-2,define a large spectrum of symptoms that are mainly dependent on the human host conditions.In Costa Rica,more than 169,000 cases and 2185 deaths were reported during the year 2020,the pre-vaccination period.To describe the clinical presentations at the time of diagnosis of SARS-CoV-2 infection in Costa Rica during the pre-vaccination period,we implemented a symptom-based clustering using machine learning to identify clusters or clinical profiles at the population level among 18,974 records of positive cases.Profiles were compared based on symptoms,risk factors,viral load,and genomic features of the SARS-CoV-2 sequence.A total of 18 symptoms at time of diagnosis of SARS-CoV-2 infection were reported with a frequency>1%,and those were used to identify seven clinical profiles with a specific composition of clinical manifestations.In the comparison between clusters,a lower viral load was found for the asymptomatic group,while the risk factors and the SARS-CoV-2 genomic features were distributed among all the clusters.No other distribution patterns were found for age,sex,vital status,and hospitalization.In conclusion,during the pre-vaccination time in Costa Rica,the symptoms at the time of diagnosis of SARS-CoV-2 infection were described in clinical profiles.The host co-morbidities and the SARS-CoV-2 genotypes are not specific of a particular profile,rather they are present in all the groups,including asymptomatic cases.In addition,this information can be used for decision-making by the local healthcare institutions(first point of contact with health professionals,case definition,or infrastructure).In further analyses,these results will be compared against the profiles of cases during the vaccination period.
文摘Background: Cervical cancer (CC) is one of the most frequent cancers and the leading cause of death from gynecological cancer in Low and middle income countries, Cameroon inclusive. Surgery is the primary treatment modality when the disease is diagnosed at early stage. Radical hysterectomy in cervical cancer has not been evaluated in recent years in Cameroon. The purpose of this study is thus to evaluate the epidemiological and clinical features and short term outcomes of patients who underwent surgery. Patients and methods: This retrospective study was conducted at the Douala Gynaeco-obstetric and Pediatric Hospital and the Douala General Hospital. Cervical cancer patients who underwent Radical hysterectomy between January 2015 and December 2020 were included. A pre-established data collection tool was used to record socio-demographic, clinical and outcomes information from patients’ files;additional outcome information was obtained from phone calls. Descriptive analysis was done using the SPSS version 26. Bivariate analysis was used to determine associations between disease and patients characteristics and occurrence of adverse postoperative outcome. P value of 0.05 was considered. Results: Sixty one patients were enrolled. Their ages ranged from 33 to 74 years with a mean age of 51.95 ± 10.29 years. Over 85% of women were married, 65.57% were unemployed and 86.88% were multiparous. Only 28% had never done cervical cancer screening. Most patients had stage IB1 to IB2 stage disease (57.1%). Less than 9% underwent radical hysterectomy and 8 of those (13.11%) suffered intraoperative complications. Twenty-five patients (40.98%) presented immediate and short term complications. There was no significant association between the disease or patients’ characteristics and adverse outcomes. Conclusion: Cervical cancer patients are relatively young in our settings and only 9% of them reach the hospital at early stage. Postoperative adverse outcomes rate is higher than that reported in the literature. Sensitization on s
文摘Introduction: since its creation, our urology department has taken care of tumor pathologies in particular kidney cancer in adults;our goal is to study the clinical and therapeutic epidemiological profiles of adult kidney cancer in Mauritania. Materials and Methods: We carried out a retrospective study over a period of six years, from January 1, 2012 to December 31, 2017, including all cases of adult kidney cancer registered in the urology-andrology departments of the Cheikh Zayed Hospital and Pathological Anatomy of the National Hospital of Nouakchott (Mauritania). Results: we collected 50 cases of kidney cancer. The average annual incidence was 8.3 cases. The average age of the patients was 52.98 years with extremes of 18 and 84 years. There was a female predominance (52%) or 29 women for 21 men. Lumbar pain was the most frequent clinical expression, more than half of the patients had symptoms over a period of at least 12 months before the first consultation. The left kidney was the most frequently affected. The right localization was demonstrated in 23 patients, the extension assessment was made with thoraco-abdomino-pelvic CT in 40 patients. Twelve patients had a tumor localized in the kidney. The extension assessment had made it possible to objectify the existence of metastases in 17 of our patients (37%). The preferred locations of these metastases were pulmonary and hepatic. Surgical intervention was performed in 44 patients (88%), of whom 36 underwent radical nephrectomy (72%), and two patients underwent partial nephrectomy (4.5%). Surgical abstention was decided from the outset in 6 patients (13.6%). None of our patients had received treatment with anti-angiogenics. The histological type most observed in our patients was renal cell carcinoma, observed in 34 patients, or 77.72%. At the time of the study, more than a third of the patients had died. The mortality rate in our series had reached 24%. A specific survival rate could not be assessed due to lack of information in the files and significant numbers
文摘Ruin Moaddel is currently a Staff Scientist in the Laboratory of Clinical Investigation at the National Institute on Aging,Baltimore,MD,USA.He obtained his Ph.D.at Northeastern University in 1999 followed by postdoctoral studies at Georgetown University.
