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1.
Article in Chinese | WPRIM | ID: wpr-1011103

ABSTRACT

Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.


Subject(s)
Humans , Deafness/genetics , Hearing Loss, Sensorineural/diagnosis , Phenotype , Metabolic Diseases/genetics , Genetic Counseling
2.
Journal of Leukemia & Lymphoma ; (12): 117-120, 2020.
Article in Chinese | WPRIM | ID: wpr-862800

ABSTRACT

Objective:To investigate the clinicopathological characteristics of non-Hodgkin lymphoma (NHL) in Shandong province.Methods:The clinicopathological data of 2 886 NHL cases in Shandong Cancer Hospital from January 2002 to December 2017 were retrospectively analyzed, the clinicopathological characteristics of patients were summarized and compared with other regions in China and abroad.Results:The median age of all NHL cases was 52 years old (4-90 years old), and the ratio of male to female was 1.57∶1. The subtypes distribution analysis revealed that B-cell NHL (B-NHL) accounted for 66.7% (1 925 cases) of all cases and T-cell NHL (T-NHL) accounted for 27.3% (788 cases) of all cases. The common subtypes were diffuse large B-cell lymphoma (36.0%, 1 039/2 886), NK/T-cell lymphoma (8.8%, 254/2 886), follicular lymphoma (8.2%, 237/2 886) and peripheral T-cell lymphoma (7.4%, 214/2 886). Of all the cases, the nodal lymphomas accounted for 45.8% (1 322 cases) and the extra nodal lymphomas accounted for 54.2% (1 564 cases); there were 389 patients (13.5%) with stage Ⅰ, 678 patients (23.5%) with stage Ⅱ, 975 patients (33.8%) with stage Ⅲ, and 722 patients (25.0%) with stage Ⅳ. The distribution of NHL subtypes in Shandong province was consistent with the domestic multicenter study. However, T-NHL subtype ratio was significantly higher than the foreign studies.Conclusions:The overall incidence of NHL in Shandong province of China is dominated by middle-aged people, and the proportion of B-NHL is higher than that of T-NHL. The distribution of NHL subtypes in Shandong province of China are different from those in the European and American countries, but are roughly consistent with the domestic multicenter study.

3.
Article in Chinese | WPRIM | ID: wpr-751725

ABSTRACT

Metronomic chemotherapy is a brand-new and multi-target chemotherapy strategy.Totally different from the traditional chemotherapy,metronomic chemotherapy can exert synergistic and durable anti-tumor effects via multiple mechanisms,including cytotoxic effect,anti-angiogenesis,immune regulation and so on.Single and combined therapy modes of metronomic oral vinorelbine have good curative effects and safeties for the treatment of advanced non-small cell lung cancer.With the in-depth understanding of metronomic chemotherapy,it will certainly become an important treatment mode for advanced non-small cell lung cancer.

4.
Article in Chinese | WPRIM | ID: wpr-749354

ABSTRACT

OBJECTIVE@#To investigate the efficacy of combined medical treatment on auditory neuropathy spectrum disorder and the effect of related factors on the prognosis.@*METHOD@#Eleven cases (22 ears) diagnosed as auditory neuropathy spectrum disorder using multiple criteria including pure tone auditory threshold, impedance audiometry, acoustic reflexes, distortion products otoacoustic emission (DPOAE) and auditory brainstem response (ABR) were subjected to combined medical treatment . Eleven auditory neuropathy spectrum disorder patients diagnosed during the corresponding period but refused treatment were selected as control group. The change of pure tone auditory threshold and speech discrimination score after treatment or follow-up were evaluated for both 2 groups, and the relationship between the patients' gender, age, accompanying symptoms and curative effect were also analyzed. Data were analyzed by SPSS 19.0 statistical software using pared-sample t-test, independent-sample test and Pearson's chi-square test.@*RESULT@#The effective rate of combined medical therapy was 59.09% (13/22) in the therapy group. PTA levels before and after-treatment were (53.92 +/- 18.86) dB HL and (47.44 +/- 14.98) dB HL respectively in 22 ears with the combined medical therapy, the improvement of which showed statistically significance (t = 5.20, P 0.05). Speech discrimination score before and after-treatment were (29.20 +/- 25.80)% and (41.60 +/- 22.90)% respectively for the treatment group. The average improvement of speech discrimination score was (12.40 +/- 13.80)% with statistically significant difference (t = 4.02, P 0.05).@*CONCLUSION@#The combined medical therapy with glucocorticoids helps improving the pure tone auditory threshold and speech discrimination score of auditory neuropathy spectrum disorder. In light of our findings we support the combined medical therapy as an option for patients with auditory neuropathy spectrum disorder.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Young Adult , Glucocorticoids , Therapeutic Uses , Hearing Loss, Central , Drug Therapy , Treatment Outcome
5.
Article in Chinese | WPRIM | ID: wpr-749219

ABSTRACT

OBJECTIVE@#This study is to investigate the clinical materials of in-patients with the large vestibular aqueduct syndrome (LVAS), and explore the feature, diagnosis and treatment measures of the disease.@*METHOD@#A retrospective review was conducted including the medical history, audiological examinations, vestibular function examinations, imaging examinations and treatment methods of 44 in patients (87 ears) suffering LVAS admitted to our hospital in the past 4 years(from 2008 to 2012).@*RESULT@#ln the 44 in patients, there were 24 male cases and 20 female cases, and the male-female ratio was 1.2 :1. The average of the onset age was 3.39 years. Five cases (11. 36%) had related familial history. The profound hearing loss was found in 67 ears (77.01%), and the severe hearing loss was found in 20 ears (22.99%). After systemic treatment,the hearing of 38 ears improved effectively,but that of 49 ears did not improve obviously. The analysis found that patients suffering sudden hearing loss got better curative effect than those with progressive hearing loss. Patients received combined drug therapy improving arterial circulation as well as venous reflux got better therapeutic effect. There was a significant difference on effect between the patients with course of treatment more than 7 days and those less than 7 days. There was no significant correlation between therapeutic effect and other factors.@*CONCLUSION@#In part of LVAS patients,the hearing level can be effectively improved through a standard internal medicine treatment. We can improve the personalized and standardized treatment strategy for this disease through analysis of diagnosis and treatment of in-patients with complete clinical data.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Young Adult , Hearing Loss, Sensorineural , Diagnosis , Therapeutics , Inpatients , Vestibular Aqueduct , Congenital Abnormalities , Vestibular Diseases , Diagnosis , Therapeutics
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