2022年 · 第135卷第21期

Gestational diabetes mellitus (GDM), defined as any degree of glucose intolerance with onset or first recognition during pregnancy, is a common pregnancy outcome.^[1]GDM carries risks for the mothers, and fetus, neonate, and childhood in the offspring. Women with GDM may increase risks of high blood pressure and preeclampsia during pregnancy, primary cesarean section, and future obesity, hypertension, dyslipidemia, metabolic syndrome, and cardiovascular disease.^[2,3,4,5,6]About 20-50% of women with prior GDM will develop type 2 diabetes within 3-5 years of pregnancy, and 70% will develop type 2 diabetes if followed ≥10 years.^[7,8,9]More alarming, children exposed to GDMin uterohave a series of adverse pregnancy outcomes at birth including preterm delivery, excessive birth weight, and low blood sugar, and also have higher risks of obesity,^[10]impaired glucose tolerance and type 2 diabetes,^[10]high blood pressure,^[11]and dyslipidemia later in life.^[12]Thus, GDM likely contributes to the vicious intergenerational cycle of obesity and type 2 diabetes.^[13]

Port-wine stain (PWS) is a type of disfiguring disease and its molecular pathogenesis remains ambiguous. The current gold standard treatment for PWS is pulsed dye laser (PDL);^[1]meanwhile hematoporphyrin monomethyl ether-photodynamic therapy (HMME-PDT) has also been utilized for clinical use for 5 years.^[2]Due to the vascular heterogeneity, it is difficult to predict and evaluate its efficacy with naked eyes. Therefore, a technology that is consistent, repeatable, and non-invasive will be required to provide accurate images and quantitative evaluation indicators. In this study, we have reviewed dermoscopy, reflectance confocal microscopy (RCM), high-frequency ultrasound (HFUS), optical coherence tomography (OCT), and laser speckle imaging (LSI), etc. in predicting efficacy, intra-operative monitoring, and objective evaluation of effectiveness of PWS treatment [Figure 1].

Hypertension, as the leading modifiable risk factor for cardiovascular disease, represents the top cause of death, with the elderly as the most vulnerable population.^[1]In China, >55% of citizens aged ≥65 years suffered from hypertension.^[2]China will be faced with more severe blood pressure burden in the near future, as the elderly will expect to account for 30% of the total population by 2050.^[3]For patients aged ≥60 years, isolated systolic hypertension is the most common hypertension subtype, which is defined as a systolic blood pressure (SBP) of ≥140 mmHg and a diastolic blood pressure of <90 mmHg.^[4]Aging of the cardiovascular system leads to the increase in both large artery stiffness and arterial wave reflections to the heart, translating into the elevation of SBP.^[5]However, treatment of older hypertensive patients remains challenging not only because the therapeutic goals often are difficult to reach due to differences in drug metabolism, use of multiple concomitant medications, and enhanced blood pressure variability in this population, but also because of the unclear blood pressure target. Current guideline-based recommendations of SBP targets remain inconsistent for the elderly, introducing uncertainty regarding optimal goals for hypertension treatment. The target is <150 mmHg in the American College of Physicians-American Academy of Family Physicians guideline,^[6]130 to 139 mmHg in the European guideline,^[7]and <130 mmHg in the American College of Cardiology-American Heart Association guideline.^[8]Thus, determining the optimal SBP target for older hypertensive patients is urgently required.

The potential impact of β cell function and insulin sensitivity on adverse pregnancy outcomes in women with gestational diabetes mellitus (GDM) remains uncertain. We aimed to investigate the association between β cell dysfunction, insulin resistance, and the composite adverse pregnancy outcomes.

This observational study included 482 women diagnosed with GDM during pregnancy. Quantitative metrics on β cell function and insulin sensitivity during pregnancy were calculated using traditional equations. The association of β cell dysfunction and insulin resistance with the risk of the composite adverse pregnancy outcomes was investigated using multivariable-adjusted logistic regression models.

Multivariable-adjusted odds ratios (ORs) of adverse pregnancy outcomes across quartiles of homeostatic model assessment for insulin resistance (HOMA-IR) were 1.00, 0.95, 1.34, and 2.25, respectively (P for trend = 0.011). When HOMA-IR was considered as a continuous variable, the multivariable-adjusted OR of adverse pregnancy outcomes was 1.34 (95% confidence interval 1.16-1.56) for each 1-unit increase in HOMA-IR. Multivariable-adjusted ORs of adverse pregnancy outcomes across quartiles of homeostatic model assessment for β cell function (HOMA-β) were 1.00, 0.51, 0.60, and 0.53, respectively (P for trend = 0.068). When HOMA-β was considered as a continuous variable, the multivariable-adjusted OR of adverse pregnancy outcomes was 0.57 (95% CI 0.24-0.90) for each 1-unit increase in HOMA-β. However, other quantitative metrics were not associated with the composite adverse pregnancy outcomes.

We demonstrated a significant association of β cell function and insulin sensitivity with the risk of adverse pregnancy outcomes. We have provided additional evidence on the early identification of adverse pregnancy outcomes besides the glycemic values.

Data on the glycemic profile of pregnant women with gestational diabetes mellitus (GDM) during the perinatal period are sparse. This study described the intrapartum and early postpartum glucose profiles among pregnant women with GDM, and analyzed factors potentially affecting glycemic parameters during the period.

This was a prospective observational study conducted from March 2020 to November 2021. Pregnant women with GDM receiving lifestyle interventions alone during pregnancy and matched women with non-diabetic pregnancies (NDPs) were enrolled from among patients admitted to the obstetrics department for childbirth. Glucose monitoring was performed via a flash glucose monitoring (FGM) system on admission, and glucose readings during labor and early postpartum were analyzed. The clinical characteristics and FGM-based parameters of participants in the two groups were compared.

A total of 124 participants (mean age: 29.5 ± 3.5 years, 92 [74.2%] primipara) were included in the final analysis. A total of 17,571 glucose readings were retrieved. There were no significant differences in clinical characteristics between the GDM (n = 60) and NDP (n = 64) groups. The average glucose level was 92.2 mg/dL, and the level was higher in the GDM group (95.5 ± 12.1 mg/dL vs. 89.1 ± 13.4 mg/dL, P = 0.008) during the intrapartum and early postpartum periods. The data were split into the intrapartum period (from the start of labor to delivery of the placenta) and the early postpartum period (within 24 h after placental delivery) for analysis. During intrapartum, women with GDM exhibited glycemic profiles and fluctuations similar to those in the NDP group. However, women with GDM had higher postpartum glucose levels (97.7 ± 13.4 mg/dL vs. 90.8 ± 15.3 mg/dL, P = 0.009), a longer time spent >140 mg/dL (8.7 ± 9.3% vs. 5.9 ± 10.3%, P = 0.011), and greater glycemic fluctuations than those with NDP. Postpartum hyperglycemia in GDM might be associated with high parity and postprandial glucose abnormalities in GDM screening tests.

Compared to those with normoglycemia, pregnant women with GDM receiving lifestyle interventions alone had similar intrapartum glucose profiles but higher early postpartum glucose levels and greater glucose variability, providing evidence for modification of the current perinatal glucose monitoring strategy for GDM.

ChiCTR.org.cn, ChiCTR2000030972

Abnormal lipids are strong predictors of cardiovascular disease in type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM). However, the potential associations of insulin resistance (IR) and beta-cell function (BCF) with abnormal lipids in newly diagnosed T1DM or T2DM patients are not fully understood.

A cross-sectional survey of 15,928 participants was conducted. Homeostasis model assessment and postprandial C-peptide levels were used to estimate IR and BCF. A restricted cubic spline (RCS) nested in binary logistic regression was used to examine the associations of IR and BCF with abnormal lipids.

High triglyceride (TG), low high-density lipoprotein cholesterol, and high low-density lipoprotein cholesterol (LDL-C) accounted for 49.7%, 47.8%, and 59.2% of the participants, respectively. In multivariable analysis, high IR was associated with an increased risk of high TGs (P for trend <0.001) in T1DM and is associated with an elevated risk of high TG and low HDL-C (all P for trend <0.01) in T2DM. Low BCF was not associated with risks of dyslipidemia in patients with T1DM or T2DM after adjustment for potential confounders.

High IR had different associations with the risk of dyslipidemia in newly diagnosed T1DM and T2DM patients, suggesting that early treatment that improves IR may benefit abnormal lipid metabolism.

Dermatophagoides pteronyssinus is a common allergen causing allergic diseases in China. The aim of this study was to evaluate the efficacy and safety of D. pteronyssinus extracts produced by Peking Union Medical College Hospital (PUMCH) for the skin prick test (SPT) in the diagnosis of D. pteronyssinus allergy.

A total of 910 subjects with allergic diseases were prescribed D. pteronyssinus SPT and specific sIgE (sIgE) test among the Outpatients of Department of Allergy, PUMCH from August 10, 2015 to August 30, 2017. Receiver operating characteristic curve (ROC) analysis was performed according to the results of D. pteronyssinus-sIgE detection. The accuracy of D. pteronyssinus extracts used for SPT in the diagnosis of D. pteronyssinus allergy was evaluated under different cutoff values. Adverse events after SPT were recorded to evaluate safety.

There were 796 and 618 subjects in the full analysis set (FAS) and the per protocol set (PPS), respectively. The areas under the curve of FAS and PPS were 0.871 and 0.873, respectively. According to the ROC of PPS, the optimal and 95% specificity diagnostic cutoff values of D. pteronyssinus SPT mean wheal diameter were 3.25 and 3.75 mm, respectively. No adverse events occurred.

The extracts of D. pteronyssinus for SPT were simple, highly accurate, and safe and should be considered for recommendation in the clinical diagnosis of D. pteronyssinus allergy.

Although various therapies have been developed to treat malalignment in osteoarthritic knees, the pattern of malalignment progression is still unclear. This study aimed to identify homogeneous subgroups with distinct trajectories of malalignment progression in subjects with symptomatic knee osteoarthritis (KOA) and to determine corresponding risk factors.

Eight-year follow-up (from 2004 to 2012) data on 1252 participants with symptomatic KOA from the Osteoarthritis Initiative were included. Varus/valgus angle progression was characterized by group-based trajectory models. Time-varying covariates were introduced into the model to investigate how they affected trajectories. Multinomial logistic regression for trajectory group membership was applied to ascertain risk factors.

Five subgroups were identified. Participants in the varus worsening trajectory (n = 166) or valgus worsening trajectory (n = 118) proceeded to worsen malalignment over time. The neutral trajectory (n = 378), varus stable trajectory (n = 328), and valgus stable trajectory (n = 262) maintained close to the initial varus/valgus angle over 8 years. Higher baseline Kellgren and Lawrence grade (odds ratio [OR] = 4.35, P < 0.001 for varus; OR= 3.85, P < 0.001 for valgus) and "severe" baseline malalignment (OR = 13.57, P < 0.001 for varus; OR = 23.04, P < 0.001 for valgus) were risk factors for worsening trajectories. The cutoff point of the baseline varus/valgus angle to discriminate between stable or worsening trajectory was -4.5° for varus and 3.6° for valgus.

This study identified the malalignment progression pattern — minor malalignment (-4.5° to +3.6°) tends to remain stable, while major baseline malalignment is likely to progress. This provides a reference for therapy to prevent malalignment from deteriorating and emphasizes the necessity of determining the trigger factors for malalignment onset.

For patients with severe neck angulation (SNA), hemodynamic and clinical outcomes following endovascular aneurysm repair (EVAR) are still unclear. This study aimed to explore the influence of SNA on hemodynamic and clinical outcomes following EVAR.

This study included a hemodynamic analysis and a retrospective cohort study from West China Hospital of Sichuan University between January 2011 and December 2020. The Cox regression model, inverse probability of treatment weighting (IPTW) analysis, sensitivity analysis, and subgroup analysis were applied. Primary outcome was type IA endoleak (T1AEL).

In this hemodynamic analysis, nine non-severe neck angulation (nSNA) and 16 SNA idealized models were constructed. We found a significant difference in drag force between SNA and nSNA models (7.016 ± 2.579 N vs. 4.283 ± 1.460 N, P = 0.008), and proximal neck angles were significantly associated with the magnitude of drag force (F = 0.082 × α-0.006 × β + 2.818, α: 95% confidence interval [CI] 0.070-0.094; P = 0.001; β: 95% CI -0.019 to 0.007; P = 0.319). In our cohort study, 514 nSNA patients (71.5 ± 8.5 years; 459 males) and 208 SNA patients (72.5 ± 7.8 years; 135 males) were included, with a median follow-up duration of 34 months (16-63 months). All baseline characteristics were well balanced after IPTW matching. We found that SNA was associated with a significant risk of adverse limb event (hazard ratio [HR] 2.18, 95% CI 1.09-3.12), yet was not associated with T1AEL, overall survival, or reintervention. In patients without proximal or distal additional procedures (DAP), subgroup analyses suggested a significant risk of T1AEL (Proximal: HR 5.25, 95% CI 1.51-18.23; Distal: HR 5.07, 95% CI 1.60-16.07) and adverse limb event (Proximal: HR 2.27, 95% CI 1.01-5.07; Distal: HR 2.91, 95% CI 1.30-6.54) in SNA patients. However, no noticeable difference was observed in patients with proximal or DAP.

SNA has a critical influence on hemodynamic and clinical outcomes following EVAR. Appropriate additional procedures may be of great benefit to SNA patients.

Gut-resident macrophages (gMacs) supplemented by monocytes-to-gMacs differentiation play a critical role in maintaining intestinal homeostasis. Activating transcription factor 4 (ATF4) is involved in immune cell differentiation. We therefore set out to investigate the role of ATF4-regulated monocytes-to-gMacs differentiation in sepsis-induced intestinal injury.

Sepsis was induced in C57BL/6 wild type (WT) mice and Atf4-knockdown (Atf4^+/-) mice by cecal ligation and puncture or administration of lipopolysaccharide (LPS). Colon, peripheral blood mononuclear cells, sera, lung, liver, and mesenteric lymph nodes were collected for flow cytometry, hematoxylin and eosin staining, immunohistochemistry, quantitative reverse transcription polymerase chain reaction, and enzyme-linked immunosorbent assay, respectively.

CD64, CD11b, Ly6C, major histocompatibility complex-II (MHC-II), CX3CR1, Ly6G, and SSC were identified as optimal primary markers for detecting the process of monocytes-to-gMacs differentiation in the colon of WT mice. Monocytes-to-gMacs differentiation was impaired in the colon during sepsis and was associated with decreased expression of ATF4 in P1 (Ly6C^hi monocytes), the precursor cells of gMacs. Atf4 knockdown exacerbated the impairment of monocytes-to-gMacs differentiation in response to LPS, resulting in a significant reduction of gMacs in the colon. Furthermore, compared with WT mice, Atf4^+/- mice exhibited higher pathology scores, increased expression of inflammatory factor genes (TNF-α, IL-1β), suppressed expression of CD31 and vascular endothelial-cadherin in the colon, and increased translocation of intestinal bacteria to lymph nodes and lungs following exposure to LPS. However, the aggravation of sepsis-induced intestinal injury resulting from Atf4 knockdown was not caused by the enhanced inflammatory effect of Ly6C^hi monocytes and gMacs.

ATF4, as a novel regulator of monocytes-to-gMacs differentiation, plays a critical role in protecting mice against sepsis-induced intestinal injury, suggesting that ATF4 might be a potential therapeutic target for sepsis treatment.

The incidence of hepatocellular carcinoma (HCC) is increasing year by year. The International Agency for Research on Cancer (IARC) reported that more than 630,000 people were diagnosed with HCC in 2020 and more than half of new cases of HCC were in China. The increasing number of patients overburdens the medical system and the waiting time before the surgery becomes longer and longer. This poses a new challenge to the applicability of traditional surgical management model. The elective surgery performed on weekend could provide an efficient solution to the problem. However, the safety of weekend surgery is controversial because surgical patients have a higher severe complication incidence and postoperative mortality on the weekend compared to the weekday (ie, weekend effect). Glanceetal^[1]reported that patients in America undergoing moderate-to-high risk surgery on the weekend have a clinically significantly increased risk of death and major complications compared with a similar surgery on a weekday.

With technological advances in laparoscopic hepatectomy and new navigation devices, such as flexible laparoscopic ultrasound probes, indocyanine green (ICG)-fluorescent imaging and three-dimensional imaging, laparoscopic segmentectomy (LS), which maximizes the preservation of the functional hepatic reserve and the possibility for future repeat hepatectomy while ensuring adequate surgical margins, has become a feasible alternative to hemihepatectomy for addressing hepatocellular carcinoma (HCC).^[1,2]However, for a single HCC invading two or more (sub)segments in the left lobe, most surgeons automatically choose left hemihepatectomy (LH) without considering the tumor’s anatomical distribution due to the relatively smaller volume of the left lobe. In fact, 80% to 90% of HCC patients in China have underlying cirrhosis.^[3]Studies have proven that approximately one-third of postoperative hepatic dysfunction or even failure in patients with cirrhosis is attributed to LH.^[4,5]As a result, in the current era of minimally invasive surgery, a more precise algorithm is needed to guide the surgical strategies for HCC in the left lobe. Herein, we proposed a new classification-oriented laparoscopic anatomical hepatectomy strategy for a single HCC invading two or more (sub) segments in the left lobe, termed the Wu’s classification.

Hypereosinophilic syndrome (HES), a rare systemic disease, was first described in 1968. As a subtype of HES, idiopathic hypereosinophilic syndrome (IHES) is defined as hypereosinophilia of unknown cause, excluding tumor, infection, allergy, and immune system disease. In most cases, more than 1 organ is affected in patients with IHES.^[1]The first-line drug for the treatment of IHES is glucocorticoid, which is effective for both hypereosinophilia and clinical manifestations.^[2]However, when the outcome of hormone treatment is unsatisfactory, immunosuppressive or antineoplastic agents can also be administered.^[3]Due to the low incidence of IHES, there is currently a lack of large-scale retrospective studies of the disease. We aimed to identify factors predictive of prognosis and determine the endpoint eosinophil (EOS) count after pharmacological therapy and the time at which a change of therapy should be considered following the failure of hormone treatment.

To the Editor:The global prevalence of diabetes is increasing dramatically.^[1]To prevent and treat diabetes and its cardiovascular complications, clinical practice guidelines recommend to assess the prevalent non-modifiable risk factors in people with diabetes. The prediction for atherosclerotic cardiovascular disease (ASCVD) risk in China (China-PAR) model was specifically developed to predict the 10-year risk for ASCVD in China.^[2]The risk equations used in this model are based on data from two large contemporary cohorts of Chinese participants and included age, systolic blood pressure, total cholesterol, high-density lipoprotein cholesterol (HDL-C), current smoking, and diabetes. Evaluation of this model showed good performance for 10-year ASCVD risk prediction among the Chinese population.

To the Editor:Type 1 diabetes (T1D) is caused by autoimmunity-mediated destruction of pancreatic islet beta cells, with islet autoimmunity being the essential component in the pathogenesis of T1D.^[1]However, studies on human islets are limited due to sampling difficulties. Therefore, immunological changes in peripheral blood mononuclear cells (PBMCs) should be emphasized. In one way, islet-infiltrating immune cells are presumably in equilibrium with circulating pools and changes in PBMCs might partly reflect islet inflammation. On the other, PBMCs represent a useful tool to detect biomarkers for disease.^[2]Traditionally, studies on PBMCs in T1D are characterized by the use of limited numbers of cell-surface markers and secreted cytokines measured using flow detection and other antibody-based assays. Recently, high-throughput sequencing technologies such as gene expression microarray have allowed the identification of PBMC transcriptomic signatures at the population level. Most of these studies focused on the differentially expressed genes (DEGs) in PBMCs, but few have verified the DEGs and investigated their cell types.

To the Editor:Primary generalized glucocorticoid hypersensitivity is a rare condition characterized by generalized, partial target-tissue hypersensitivity to glucocorticoids. Therefore, low concentration of glucocorticoids is sufficient to effectively maintain the patient’s cell physiological effects and to suppress the hypothalamic-pituitary-adrenal axis. Our study aims to provide some insight into when glucocorticoid hypersensitivity should be considered and how to diagnose it. We also propose a diagnostic flow chart for glucocorticoid hypersensitivity for the first time based on our experience and previous literature review. The study was reviewed and approved by the Institutional Review Board of Huashan Hospital, Fudan University (No. KY2020-049).

To the Editor: Acne vulgaris is a chronic, inflammatory, and disfiguring skin disease with lesions, post-inflammatory hyperpigmentation, and scarring. Chemical peeling is a simple and well-tolerated procedure for mild-to-moderate acne. Glycolic acid (GA) is water-soluble and has the smallest molecular weight among all the alpha-hydroxy acids. High-concentration GA (20%-70%), applied at 2 to 4-week intervals in the hospital or cosmetology clinic, have proved effective for acne.^[1]Low-concentration GA (≤10%) is safe and convenient, and can be used at home.^[2]Up to now, differences in efficiency between low and high concentrations of GA for acne vulgaris have not been reported. This study compared the efficacy and safety of 5 % GA complex and 20% GA for acne patients, to guide GA selection at different concentrations.

To the Editor: Mycobacterium marinumis a nontuberculous mycobacterium that can cause opportunistic infections in humans, ranging from a single cutaneous lesion to disseminated disease.^[1]It was first isolated from a fish in 1926 and identified as a cause of human infection in 1951.^[1]The estimated annual incidence ranges from 0.04 to 0.27 per 100,000 persons in different countries. Outbreaks ofM. marinuminfections related to handling fish are not common, but have also been reported.

To the Editor: Extra-mammary Paget’s disease (EMPD) is a rare cutaneous intra-epidermal adenocarcinoma with a controversial origin, and frequently occurs in the penoscrotal region in males. Primary EMPD, which originates within the epidermis or apocrine glands, is usually anin situdisease confined to the epidermis with a good prognosis, while secondary EMPD is considered to be associated with underlying internal malignancy. EMPDin situhas the potential to become invasive EMPD which has a higher metastasis rate and worse prognosis.^[1]Thus, it is important to identify transcriptomic profiles related to the biological behavior of invasion to improve the treatment of invasive EMPD in the future.

To the Editor:Axial spondyloarthritis (axSpA) is a chronic inflammatory disease.^[1]The hallmark of ankylosing spondylitis (AS) phenotype is sacroiliac joint and spinal damage characterized by the new bone formation and joint fusion, which results in irreversible functional disability and reduced quality of life.

To the Editor:Axial spondyloarthritis (axSpA) is characterized by sacroiliac joint inflammation, spine inflammation, bone destruction, and osteogenesis. Ankylosis of the spine and/or hip joints may occur later, significantly affecting the patient’s quality of life. As the earliest and most common imaging finding of axSpA, sacroiliitis can be divided into early active and late structural lesions. Magnetic resonance imaging (MRI) not only detects active inflammatory changes that cannot be found in computed tomography (CT) or X-rays but also has a similar sensitivity to CT in detecting structural lesions.^[1]However, conventional MRI only provides the qualitative diagnosis of sacroiliac joint lesions but does not provide quantitative information. Objective, accurate, and repeatable quantitative assessment, especially for bone marrow edema (BME) and fat metaplasia, which are associated with disease prognosis, offers potential imaging methods to evaluate the state of illness and therapy efficacy. Synthetic MRI, as a new imaging technique, provides both qualitative and quantitative information based on the same scan. In the present study, we aimed to verify whether synthetic MRI provides the similar qualitative diagnostic value of sacroiliac joint lesions in patients with axSpA compared with conventional MRI and to assess the quantitative diagnostic performance of quantitative maps generated by synthetic MRI in the detection of BME and fat metaplasia in the sacroiliac joint. To our knowledge, this study is the first to investigate the potential practicality of synthetic MRI for assessing sacroiliac joint lesions in participants with axSpA.

To the Editor:Axial spondyloarthritis (axSpA) is a chronic and progressive disease affecting the spine and sacroiliac (SI) joints, causing inflammatory back pain, stiffness, and inducing new bone formation (syndesmophytes and ultimately ankylosis in the severe forms). AxSpA consists of two subsets of patients: those with non-radiographic axSpA (nr-axSpA) and those with ankylosing spondylitis (AS), also known as radiographic axSpA. AxSpA is associated with substantial clinical and economic burdens for patients and the healthcare system. Patients with axSpA have physical limitations that can adversely affect employment, work productivity, leisure activities, mood, and interpersonal relationships.

To the Editor:Hearing loss is the most common sensory disorder in humans. There is one case of congenital deafness among every 1000 newborns, and in 50% of cases, the deafness is hereditary. Deafness exhibits high genetic heterogeneity. To date, over 110 non-syndromic deafness genes have been identified (https://hereditaryhearingloss. org/). Lots of those genes can cause both autosomal-dominant hearing loss (ADNSHL) and autosomal-recessive non-syndromic hearing loss (ARNSHL) andTMC1(encoding the transmembrane channel-like 1) is one of them.TMC1(OMIM: 606706) is a member of the TMC family located at 9q21.13. The protein contains 760 amino acids and has six transmembrane regions. TMC1 is expressed in the inner and outer hair cells of the cochlea. ATMC1mutation was first shown to cause deafness in 2002.^[1]The prevalence ofTMC1variants ranged from 3.4% (19/557) among Pakistani ARNSHL families to 8.1% (7/86) in Turkish families. To date, around 20 hearing loss families associated withTMC1variants have been reported in China.