Objective:X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Methods:Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. Results:The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the SMPX gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. Conclusion:This study reports a novel pathogenic variant in the SMPX gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the SMPX gene.
Humans ; Pedigree ; Mutation ; Phenotype ; Male ; Hearing Loss, Sensorineural/genetics* ; Exome Sequencing ; Female ; Adult ; Hearing Loss/genetics* ; Evoked Potentials, Auditory, Brain Stem ; Muscle Proteins

There is an upward trend in the incidence of infertility, while its pathogenesis is very complex, including endocrine disorders and autoimmune diseases and so on. With the development of reproductive immunology, infertility caused by immune factors has attracted more attention. Various reproductive immune antibodies have been found in infertility patients. The role and prevalence of related autoantibodies in the pathogenesis of infertility vary from each other, thus their detection is of great significance for early diagnosing, treating and monitoring infertility patients.

Antiphospholipid syndrome(APS) is a autoimmune system disorder caused by thrombosis and is usually accompanied with persistent positive. Antiphospholipid antibodies profiles(aPLs) is the key to diagnosing APS. The most frequently detectable aPLs in current clinical applications are anticardiolipin antibodies (aCL), anti-β2 glycoprotein Ⅰantibodies (anti-β2 GPI), and lupus anticoagulant (LA).However, it is found that the current laboratory diagnostic standard for APS based on these three aPL have many defects. The standard can′t meet the clinical needs. In this article, the research and development of antiphospholipid antibody in recent years are summarized, and the clinical value of non-classified standard antibodies such as IgA antibody isotype and anti-domain 1 β2-glycoprotein I antibody are reviewed.

Thyroid is the largest endocrine gland of human body, the main effect of thyroid hormone secreted by thyroid is to maintain the normal body-metabolism, growth and development and expecially for the development of bone and nervous system. Maternal thyroid hormones during pregnancy are very important for the development of fetuses and children, thyroid-related complications during pregnancy are associated with adverse pregnancy outcomes. The dysfunction of thyroid, the diagnosis of thyroid-related complications during pregnancy and the clinical manifestations were systematically introduced in the presence review.

Objective:To investigate the relationship between neutrophil / lymphocyte ratio (NLR) and cystatin C (Cys-C) and microvascular complications in type 2 diabetes mellitus.Methods:1 990 patients with type 2 diabetes mellitus were divided into simple diabetes group (N group), simple diabetic retinopathy group (DR group), simple diabetic nephropathy group (DN group) and diabetic retinopathy combined with diabetic nephropathy group (DRN group). The general data and biochemical indexes were collected to analyze the differences of NLR and Cys-C among the groups. The risk factors of diabetic microvascular complications were analyzed by multivariate logistic regression.Results:The NLR in DRN group was higher than that in N group and DN group ( P<0.05), but there was no difference between DRN group and DR group ( P>0.05). The serum Cys-C in DRN group was higher than that in N group, DN group and DR group, with statistical significance ( P<0.05). After adjusting for age, duration of diabetes and other factors, multivariate logistic regression showed that NLR was an independent risk factor for type 2 diabetic retinopathy complicated with diabetic nephropathy, while serum Cys-C was not. Subgroup analysis showed that NLR was an independent risk factor for both diabetic retinopathy and diabetic nephropathy, while Cys-C was only related to diabetic nephropathy, which was not related to retinopathy ( P<0.05). Conclusions:NLR is associated with type 2 diabetic retinopathy and diabetic nephropathy, while serum Cys-C is only associated with type 2 diabetic nephropathy, but not with diabetic retinopathy.

Surgical resection is the most important treatment of thymoma. However, the role of postoperative adjuvant radiotherapy (PORT) has been controversial. The survival benefits of two-dimensional radiotherapy are not significant. However, precision radiotherapy has significantly changed tumor radiotherapy. The value of PORT for thymoma may also be altered. At present, the effect of radiotherapy in patients with positive surgical margins or inoperable resection is confirmed. For patients with complete surgical resection, Masaoka-Koga stage Ⅰ patients do not require PORT. Whether PORT should be given for stage Ⅱ patients remains debated if stage Ⅱ b, large volume and B2/B3 type were considered during radiotherapy. The role of PORT for stage Ⅲ patients is also in disputed, whereas a majority of findings support the application of PORT. Precision technology is recommended during PORT. The clinical target volume suggests that the three-dimensional expansion of the tumor bed is 0.5 cm, including the mediastinal pleura involved by the tumor and 0.5-1.0 cm along the anterior and posterior direction of the mediastinal pleura, the cranial and caudal direction, the lung side is expanded within the 0.5 cm, and the vascular wall around the tumor and part of the vascular space, so as to avoid including too much normal tissue. The dose for complete resection is 45-50 Gy and 54-60 Gy or slightly higher for incomplete resection, which may increase the benefits and reduce the risk of PORT.The application of new radiotherapy techniques such as particle therapy can gain the advantage of dosimetric distribution, and whether it can be transformed into clinical benefits needs to be further explored.

OBJECTIVETo study the significance of P504s in differential diagnosis between solid pseudopapillary tumor of the pancreas (SPTP) and pancreatic neuroendocrine tumors (PanNET).

METHODSForty-three patients with SPTP and 41 patients with PanNET encountered during the period from 2007 to 2014 were recruited. Immunohistochemical study for vimentin, CD10, chromogranin A, synaptophysin, beta-catenin, CD99 and P504s in SPTP and PanNET was performed. The diagnostic value of P504s in differentiating SPTP from PanNET was analyzed.

RESULTSImmunohistochemical study showed that vimentin, CD10, chromogranin A, synaptophysin and CD99 were expressed both in SPTP and PanNET. All cases of SPTP showed granular cytoplasmic expression of P504s, whereas those of PanNET were negative.

CONCLUSIONP504s is a sensitive and useful marker for SPTP and can be used in the distinction between SPTP and PanNET.

Objective To study the significance of P504s in differential diagnosis between solid pseudopapillary tumor of the pancreas(SPTP) and pancreatic neuroendocrine tumors(PanNET).Methods Forty-three patients with SPTP and 41 patients with PanNET encountered during the period from 2007 to 2014 were recruited.Immunohistochemical study for vimentin, CD10, chromogranin A, synaptophysin, beta-catenin, CD99 and P504s in SPTP and PanNET was performed.The diagnostic value of P504s in differentiating SPTP from PanNET was analyzed. Results Immunohistochemical study showed that vimentin, CD10, chromogranin A, synaptophysin and CD99 were expressed both in SPTP and PanNET.All cases of SPTP showed granular cytoplasmic expression of P504s, whereas those of PanNET were negative. Conclusion P504s is a sensitive and useful marker for SPTP and can be used in the distinction between SPTP and PanNET.

Based on laboratory tests,subclinical hypothyroidism is diagnosed and defined as an elevated serum TSH concentration with FT4 within reference range.Alterations in thyroid function are associated with aging.All available studies show that prevalence of subclinical hypothyroidism increases with aging,especially in women.However,some studies advise that serum TSH reference range for older people should be modified,because serum TSH elevates with aging.Therefore,when to and how to treat subclinical hypothyroidism in the elderly has been debating fiercely.At present,levothyroxine sodium treatment is generally recommended when TSH is raised more than 10 mIU/L.When TSH level is between the upper limit of the reference range and 10 mIU/L,treatment should depend on symptoms,history and risk factors of cardiovascular disease.Therapeutic objective should be individualized,depending on age,cardiac function,and other conditions.

Objective To assess the impact of donor age on the outcome of living donor kidney transplantation.Methods A total of 217 patients undergoing living donor kidney transplantation during 2004 to 2011 were enrolled in our retrospective study.The recipients were divided into different groups according to their donors' age or the age gaps between donors and recipients.A follow-up survey was conducted to evaluate the serum creatinine level and the incidence of complications after transplantation.Results As the donors age grew,the recipients' serum creatinine increased.The serum creatinine levels of patients with older donors(age gap＞5 years) at 1 month[(143.5±42.1) μmol/L vs (114.4±30.4) μmol/L],3 months (139.9±36.6)μmol/L vs (110.6±33.3) μ mol/L],1 year [(132.1±22.1) μmol/L vs (105.5±35.9) μmol/L] and 2years (132.0±45.4) μmol/L vs (97.2±17.5) μ mol/L] after operation were significantly higher than those with younger donors(age gap＜-5)(P＜0.05).The incidence of acute rejection (19.4％ vs 9.7％,P＜0.05) and chronic rejection (9.7％ vs 1.4％,P＜0.05) was significantly higher in the group with donors older than 50 years old than those with donors younger than 50 years old.But no significant difference was observed in the survival of the grafts or the recipients.Age gap between the donor and recipient was an independent risk factor for abnormal serum creatinine level at 2 years after transplantation (OR=5.010,P＜0.05).Conclusions Donor age is an important impact factor on the outcome of living kidney transplantation.Recipients of older living donation have poorer Prognosis.