BACKGROUND The epidemic of severe acute respiratory syndrome coronavirus 2 infection,known as the coronavirus disease 2019(COVID-19),has caused a global health concern.Since its emergence,numerous studies have focused...BACKGROUND The epidemic of severe acute respiratory syndrome coronavirus 2 infection,known as the coronavirus disease 2019(COVID-19),has caused a global health concern.Since its emergence,numerous studies have focused on various clinical manifestations and outcomes in different populations.However,studies are ongoing as the consequences and impact of COVID-19 in children with chronic diseases such as asthma are controversial.AIM To fill this research gap by retrospectively evaluating the course,laboratory,and clinical findings of COVID-19 among 414 asthmatic children followed up from the pediatric allergy outpatient clinic and known to have had COVID-19.METHODS The data of 5510 patients over the age of 5 diagnosed with asthma in our hospital's data were retrospectively scanned with specific parameters using protocol numbers from the hospital filing system.The data included retrospective evaluation of pulmonary function test results before and after COVID-19,routine hematological and biochemical parameters,sensitization states(total IgE,specific IgE,and skin prick test results),and radiological(computed tomography)findings.To inquire about the course and symptoms of COVID-19,asthma patients or their parents were then called and evaluated with a questionnaire.RESULTS As a result of retrospectively scanning the data of 5510 asthma patients over the age of 5,it was determined that 414(7.5%)patients had COVID-19.The mean age of 414 patients was 17.18±4.08(min:6;max:28)years.Two hundred and three of our 414 patients are male,and 211 are female.When their vaccination status was questioned,21.5% were vaccinated.When the symptoms of our 290 patients were questioned,it was stated that 59.0% had fever symptoms.The rate of using regular prophylactic asthma medications was 19%.The rate of using salbutamol in asthma was found to be 22%.The rate of patients using methylprednisolone was 1%.Emergency service admission was 17.2%,and hospitalization was found to be 4.8%.Leukopenia(<4000)was found in 14.1%of patients,and 8.08% of o展开更多
Objective: To determine the prevalence of GNRH receptor (GNRHR) gene mutations in a large cohort of patients with idiopathic hypogonadotropic hypogonadism (IHH). Design: Molecular analysis and genotype/phenotype corre...Objective: To determine the prevalence of GNRH receptor (GNRHR) gene mutations in a large cohort of patients with idiopathic hypogonadotropic hypogonadism (IHH). Design: Molecular analysis and genotype/phenotype correlations. Setting: University molecular reproductive endocrinology laboratory. Patient(s): North American and Turkish patients with IHH. Intervention(s): DNA from 185 IHH patients were subjected to denaturing gradient gel electrophoresis for exons and splice junctions of the GNRHR gene. Variant fragments were sequenced. Main Outcome Measure(s): GNRHR mutations were characterized and compared with the phenotype. The prevalence of GNRHR mutations was also determined. Result(s): Three of 185 (1.6%; confidence interval [CI] 0.3%-4.7%) total IHH patients demonstrated compound heterozygous GNRHR mutations. All three were identified from a cohort of 85 normosmic patients (3.5%, CI 0.73%-7.5%), and none were demonstrated in hyposmic or anosmic IHH patients. GNRHR mutations were identified in 1 of 15 (6.7%; CI 0.2%-32.0%)-families with at least two affected siblings, and in 2 of 18 (11.1%; CI 1.4%-34.7%) normosmic females. None were found in presumably autosomal dominant families. Conclusion(s): GNRHR mutations account for approximately 3.5%of all normosmic and 7%-11%of presumed autosomal recessive IHH, suggesting that additional genes play an important role in normal puberty. We believe this to be the largest GNRHR gene mutation analysis performed to date in a population of IHH patients.展开更多
Objective: To characterize the phenotype,modes of inheritance, karyotype, and molecular basis of patients with idiopathic hypogonadotropic hypogonadism(IHH).Design: Review of medical records, karyotyping, and collatio...Objective: To characterize the phenotype,modes of inheritance, karyotype, and molecular basis of patients with idiopathic hypogonadotropic hypogonadism(IHH).Design: Review of medical records, karyotyping, and collation of gene mutation analysis. Setting: University molecular reproductive endocrinology laboratory. Patient(s): Patients with IHH. Intervention(s): Review of medical records, laboratory studies, and molecular studies. Main Outcome Measure(s): Sense of smell, severity of IHH (complete vs. incomplete), associated anomalies, karyotype, mutation analysis, and genotype/phenotype correlations were studied. Result(s): Of 315 patients with IHH, 6.3% had one or more affected relatives. Autosomal recessive inheritance was likely in most of these familial cases, but autosomal- dominant and X- linked recessive inheritance patterns were likely in some families. Complete IHH was more commonly found in males (62% ), whereas incomplete IHH was more commonly observed in females (54.3% ). Anosmia was present in 31.3% of males and 27.9% of females. The karyotype was normal in all 19 females tested, but was abnormal in 3 of 57 (5.3% ) of males tested. Although cryptorchidism did not differ among those who were anosmic vs. normosmic, it was approximately four times more common in patients with complete IHH than incomplete IHH (15.3% vs. 3.9% ). Approximately 10% of the IHH patients tested had mutations in either the GNRHR or KAL1 gene. Conclusion(s): Idiopathic hypogonadotropic hypogonadismis a heterogeneous disorder affecting fertility, in which the number of familial cases is probably underestimated. Further study of genes that regulate hypothalamic- pituitary development and function will likely reveal important information regarding the development of normal puberty in humans.展开更多
文摘BACKGROUND The epidemic of severe acute respiratory syndrome coronavirus 2 infection,known as the coronavirus disease 2019(COVID-19),has caused a global health concern.Since its emergence,numerous studies have focused on various clinical manifestations and outcomes in different populations.However,studies are ongoing as the consequences and impact of COVID-19 in children with chronic diseases such as asthma are controversial.AIM To fill this research gap by retrospectively evaluating the course,laboratory,and clinical findings of COVID-19 among 414 asthmatic children followed up from the pediatric allergy outpatient clinic and known to have had COVID-19.METHODS The data of 5510 patients over the age of 5 diagnosed with asthma in our hospital's data were retrospectively scanned with specific parameters using protocol numbers from the hospital filing system.The data included retrospective evaluation of pulmonary function test results before and after COVID-19,routine hematological and biochemical parameters,sensitization states(total IgE,specific IgE,and skin prick test results),and radiological(computed tomography)findings.To inquire about the course and symptoms of COVID-19,asthma patients or their parents were then called and evaluated with a questionnaire.RESULTS As a result of retrospectively scanning the data of 5510 asthma patients over the age of 5,it was determined that 414(7.5%)patients had COVID-19.The mean age of 414 patients was 17.18±4.08(min:6;max:28)years.Two hundred and three of our 414 patients are male,and 211 are female.When their vaccination status was questioned,21.5% were vaccinated.When the symptoms of our 290 patients were questioned,it was stated that 59.0% had fever symptoms.The rate of using regular prophylactic asthma medications was 19%.The rate of using salbutamol in asthma was found to be 22%.The rate of patients using methylprednisolone was 1%.Emergency service admission was 17.2%,and hospitalization was found to be 4.8%.Leukopenia(<4000)was found in 14.1%of patients,and 8.08% of o
文摘Objective: To determine the prevalence of GNRH receptor (GNRHR) gene mutations in a large cohort of patients with idiopathic hypogonadotropic hypogonadism (IHH). Design: Molecular analysis and genotype/phenotype correlations. Setting: University molecular reproductive endocrinology laboratory. Patient(s): North American and Turkish patients with IHH. Intervention(s): DNA from 185 IHH patients were subjected to denaturing gradient gel electrophoresis for exons and splice junctions of the GNRHR gene. Variant fragments were sequenced. Main Outcome Measure(s): GNRHR mutations were characterized and compared with the phenotype. The prevalence of GNRHR mutations was also determined. Result(s): Three of 185 (1.6%; confidence interval [CI] 0.3%-4.7%) total IHH patients demonstrated compound heterozygous GNRHR mutations. All three were identified from a cohort of 85 normosmic patients (3.5%, CI 0.73%-7.5%), and none were demonstrated in hyposmic or anosmic IHH patients. GNRHR mutations were identified in 1 of 15 (6.7%; CI 0.2%-32.0%)-families with at least two affected siblings, and in 2 of 18 (11.1%; CI 1.4%-34.7%) normosmic females. None were found in presumably autosomal dominant families. Conclusion(s): GNRHR mutations account for approximately 3.5%of all normosmic and 7%-11%of presumed autosomal recessive IHH, suggesting that additional genes play an important role in normal puberty. We believe this to be the largest GNRHR gene mutation analysis performed to date in a population of IHH patients.
文摘Objective: To characterize the phenotype,modes of inheritance, karyotype, and molecular basis of patients with idiopathic hypogonadotropic hypogonadism(IHH).Design: Review of medical records, karyotyping, and collation of gene mutation analysis. Setting: University molecular reproductive endocrinology laboratory. Patient(s): Patients with IHH. Intervention(s): Review of medical records, laboratory studies, and molecular studies. Main Outcome Measure(s): Sense of smell, severity of IHH (complete vs. incomplete), associated anomalies, karyotype, mutation analysis, and genotype/phenotype correlations were studied. Result(s): Of 315 patients with IHH, 6.3% had one or more affected relatives. Autosomal recessive inheritance was likely in most of these familial cases, but autosomal- dominant and X- linked recessive inheritance patterns were likely in some families. Complete IHH was more commonly found in males (62% ), whereas incomplete IHH was more commonly observed in females (54.3% ). Anosmia was present in 31.3% of males and 27.9% of females. The karyotype was normal in all 19 females tested, but was abnormal in 3 of 57 (5.3% ) of males tested. Although cryptorchidism did not differ among those who were anosmic vs. normosmic, it was approximately four times more common in patients with complete IHH than incomplete IHH (15.3% vs. 3.9% ). Approximately 10% of the IHH patients tested had mutations in either the GNRHR or KAL1 gene. Conclusion(s): Idiopathic hypogonadotropic hypogonadismis a heterogeneous disorder affecting fertility, in which the number of familial cases is probably underestimated. Further study of genes that regulate hypothalamic- pituitary development and function will likely reveal important information regarding the development of normal puberty in humans.
