Thyrotoxic periodic paralysis complicated by life-threatening acute hypercapnic respiratory failure in a Chinese male with painless thyroiditis.

CONTEXT: Thyrotoxic periodic paralysis (TPP) is a relatively common complication seen in Asian hyperthyroid patients. However, it is a rare occurrence to find a TPP case comprised of acute hypercapnic respiratory failure in patients with painless thyroiditis. PATIENT: A 29-year-old Chinese man presented with flaccid paralysis of all four limbs and he was brought to emergency room. Severe hypokalemia was found on admission. Although treatment had been initiated with potassium chloride supplementation, he went on to develop acute hypercapnic respiratory failure likely due to muscle fatigue. The patient was intubated for mechanical ventilatory support. Once his serum potassium levels were normalized, he was able to be weaned off ventilator support. Thyroid function tests showed elevated free thyroxine concentration and low thyroid-stimulating hormone concentration. He underwent a thyroid uptake scan with 131I which revealed decreased uptake rate of thyroid area. Based on the patient's clinical presentation and associated findings, we diagnosed him with TPP due to painless thyroiditis. We have reviewed TPP cases caused by painless thyroiditis and TPP cases associated with acute hypercapnic respiratory failure. CONCLUSION: It is important to note that potentially fatal complications such as acute hypercapnic respiratory failure might occur in acute attacks of TPP even in cases of TPP due to painless thyroiditis.

A spontaneous pregnancy and successful delivery in a Chinese female with Silver-Russell syndrome accompanied by gestational diabetes mellitus.

Silver-Russell syndrome (SRS) is a heterogeneous disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features including body asymmetry, relative macrocephaly, protruding forehead, and feeding difficulties. Previous descriptions of SRS focus on the management of specific issues in children. Herein, we present clinical and metabolic characteristics of an adult woman with SRS accompanied by gestational diabetes mellitus (GDM). Given the rare circumstances presented in our case, the emerging questions concerning the management of metabolic issues and fertility potential in adult SRS patient deserve more attention. Further, long-term follow up is essential to gain future insights into the natural history and optimal management in adulthood.

17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.

OBJECTIVE: 17α-hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients. METHODS: Patients with complete (7/8) or partial (1/8) 17OHD were derived from 6 families. The diagnosis was established according to their clinical, biochemical, hormonal, and radiological characteristics. Long-term follow-up of some patients was also designed. RESULTS: Patients with 17OHD suffered from varying degrees of hypokalemia and hypertension. Symptoms in female patients with partial 17OHD manifested as secondary amenorrhea, recurrent ovarian cysts, elevated estradiol level, and lower follicle-stimulating hormone and luteinizing hormone levels; primary amenorrhea was typical in patients with complete 17OHD. Adrenal masses and decreased bone mineral density (BMD) were discovered in 2 patients, respectively. During long-term follow-up, 4 patients developed low BMD, while 3 individuals underwent respiratory infections and recurrent urinary tract infections. CYP17A1 gene analysis revealed 7 different kinds of mutation, including 1 novel mutation, L266V. CONCLUSION: The clinical characteristics of partial 17OHD were different from those of complete 17OHD. Low BMD and infections were common in patients with 17OHD on long-term steroid treatment. Seven mutations were identified in the CYP17A1 gene, and 1 was novel. ABBREVIATIONS: ACTH = adrenocorticotropic hormone BMD = bone mineral density CAH = congenital adrenal hyperplasia CT = computed tomography DEXA = dual-energy X-ray absorptiometry DEX = dexamethasone 17OHD = 17α-hydroxylase/17, 20-lyase deficiency.

[Analysis of AVPR2 gene mutation in a pedigree affected with congenital nephrogenic diabetes insipidus].

OBJECTIVE: To detect potential mutation in a pedigree affected with congenital nephrogenic diabetes insipidus (NDI). METHODS: Clinical data of a male patient affected with NDI was collected. Genomic DNA was extracted from peripheral blood samples from the patient and five family members. The whole coding region of the arginine vasopressin receptor 2 (AVPR2) gene was amplified by PCR and directly sequenced. RESULTS: The patient presented polyuria and polydipsia postnatally. Computerized tomography revealed bilateral hydronephrosis and hydroureter. The patient was responsive to hydrochlorothiazide but not to desmopressin. DNA analysis identified a hemizygous missence mutation c.295 T>C in exon 2 of the AVPR2 gene in the proband. His mother and grandmother were both heterozygous for the same mutation. CONCLUSION: The congenital NDI in the patient was probably due to mutation of the AVPR2 gene.

Association between red cell distribution width/serum albumin ratio and diabetic kidney disease.

BACKGROUND: Previous studies have shown that the red cell distribution width (RDW)/serum albumin ratio (RA) is an integrative and new inflammatory marker. RA is associated with clinical outcomes in a variety of diseases, but the clinical value of RDW/RA in the assessment of diabetic kidney disease (DKD) has not been elucidated. We examined the link between diabetic RA and DKD while controlling for a wide variety of possible confounders. METHODS: Retrospective cohort analysis of the National Health and Nutrition Examination Survey (NHANES: 2009-2018) database from the Second Affiliated Hospital and Yuying Children's Hospital and the Wenzhou Medical University (WMU) database was conducted. Multivariate logistic regression analysis was used to assess the association between RA and DKD. RESULTS: Overall, 4513 diabetic patients from the NHANES database (n = 2839) and the WMU (n = 1412) were included in this study; 974 patients were diagnosed with DKD in NHANES and 462 in WMU. In the NHANES cohort, diabetes mellitus (DM) patients with higher RA level had a higher risk of DKD (odds ratio = 1.461, 95% confidence interval: 1.250-1.707, p < 0.00001). After adjusting for confounders and propensity score-matched (PSM) analysis, both shown RA levels were independently linked to DKD (pAdjust = 0.00994, pPSM = 0.02889). Similar results were also observed in the WMU cohort (p < 0.00001). CONCLUSIONS: The study observes that the RA was an independent predictor of DKD in DM patients. The RA, a biomarker that is cost-effective and easy-to-access, may have potential for risk stratification of DKD.

The relationship between serum γ-glutamyltransferase (GGT) and diabetic nephropathy in patients with type 2 diabetes mellitus: a cross-sectional study.

The relationship between serum γ-glutamyltransferase (GGT) and renal dysfunction is controversial. In this study, we examined the relationship of serum GGT to diabetic nephropathy (DN) in patients with type 2 diabetes mellitus (T2DM). A total of 577 patients with T2DM were enrolled and their basic information and laboratory data were collected and analyzed. The prevalence of DN increased with the elevated serum GGT tertiles. The level of serum GGT in the DN group was higher than in the non-DN groups. Multivariate logistic analysis showed that high GGT was independent risks for DN (OR = 1.041, 95% CIs 1.023-1.059). And the OR of log-transformed serum GGT for DN was 6.190 (95% CIs 4.248-9.021). The OR of DN across increasing tertiles of serum GGT were 1.00, 3.288 (1.851-5.840), and 5.059 (2.620-9.769) (P for trend < 0.001). Stratified receiver operating characteristic (ROC) analysis by gender showed that the area under ROC curve (AUC) value for GGT was 0.781 (0.732-0.825, P < 0.05) in male and was 0.817 (0.761-0.864, P < 0.05) in female. Compared with female, GGT in male showed lower sensitivity (52.86% vs. 82.05%) and higher specificity (90.32% vs. 55.26%). And the AUC value for GGT was greater than creatinine (Cr) and estimated glomerular filtration rate (eGFR) in male and smaller than Cr and eGFR in female, respectively. In Conclusion, there was an independently positive relationship between serum GGT levels and DN, which suggested that elevated GGT was a potential indicator for risk of DN. There were gender differences in the predictive property of GGT for DN.

Association Between Systemic Immune-Inflammation Index and Diabetic Depression.

BACKGROUND: Depression is highly prevalent in patients with diabetes mellitus (DM). Diabetic depression has been shown to be associated with low-grade systemic inflammation. In recent years, the systemic immune-inflammation (SII) index has been developed as an integrated and novel inflammatory indicator. The aims of this study were to investigate the relationship between diabetic depression and SII levels, adjusting for a wide range of potential confounding factors, to examine the potential of SII in predicting diabetic depression. METHODS: The present cross-sectional study was conducted among adults with DM in the National Health and Nutrition Examination Survey between 2009 and 2016, the SII level was calculated as the platelet counts × neutrophil counts/lymphocyte counts. Patient Health Questionnaire-9 was used to measure depression in patients with DM. Multivariable logistic regression and propensity score-matched analysis were used to analyze the association between SII levels and depression. RESULTS: A total of 2566 patients with DM were included in the study, of which 370 (13.3%) were diagnosed with depression. Multivariable logistic regression showed that high SII level was an independent risk factor for diabetic depression (OR = 1.347, 95% CI: 1.031-1.760, P = 0.02882) after adjusting for covariates. The relationship between SII and diabetic depression was further verified by propensity score-matched analysis. CONCLUSION: Our data suggest that SII is a risk factor for depression in patients with DM. The SII may be an easily accessible and cost-effective strategy for identifying depression in patients with DM. More studies are warranted to further analyze the role of SII in depression in diabetic patients.

Bromhexine Hydrochloride Tablets for the Treatment of Moderate COVID-19: An Open-Label Randomized Controlled Pilot Study.

This open-label randomized controlled pilot study aimed to test the study feasibility of bromhexine hydrochloride (BRH) tablets for the treatment of mild or moderate coronavirus disease 2019 (COVID-19) and to explore its clinical efficacy and safety. Patients with mild or moderate COVID-19 were randomly divided into the BRH group or the control group at a 2:1 ratio. Routine treatment according to China's Novel Coronavirus Pneumonia Diagnosis and Treatment Plan was performed in both groups, whereas patients in the BRH group were additionally given oral BRH (32 mg t.i.d.) for 14 consecutive days. The efficacy and safety of BRH were evaluated. A total of 18 patients with moderate COVID-19 were randomized into the BRH group (n = 12) or the control group (n = 6). There were suggestions of BRH advantage over placebo in improved chest computed tomography, need for oxygen therapy, and discharge rate within 20 days. However, none of these findings were statistically significant. BRH tablets may potentially have a beneficial effect in patients with COVID-19, especially for those with lung or hepatic injury. A further definitive large-scale clinical trial is feasible and necessary.

Tumor-induced osteomalacia with the culprit lesion located in the palm: a case report.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome. We herein report a rare case of TIO in a 58-year-old Chinese man who presented with a large lump in the right palm. Clinical, biochemical, and radiological assessments were performed. Laboratory examination showed severe hypophosphatemia, phosphaturia, an elevated serum alkaline phosphatase level, and an elevated serum fibroblast growth factor 23 (FGF-23) level. Dual-energy X-ray absorptiometry showed low bone mineral density. Magnetic resonance imaging revealed an irregular mass located in the right palm and abnormal findings in several metacarpal bones. During the operation, the surgeons found that the tumor had penetrated the surrounding muscles. The tumor had unique characteristics of local tissue invasion. The patient's symptoms fully resolved and his serum phosphorus level normalized, although his serum FGF-23 level remained slightly high in the postoperative phase. Our findings suggest that in some patients with TIO, the serum phosphorus level might return to the normal range despite a relatively high postoperative serum FGF-23 level. These patients should be kept under close observation and regularly surveyed for any evidence of a residual tumor.

Low-dose adefovir dipivoxil-induced hypophosphatemia osteomalacia in five chronic hepatitis B virus-infected patients. Is low-dose adefovir dipivoxil-induced nephrotoxicity completely reversible?

Adefovir dipivoxil (ADV) is one of the most important nucleostide analogues currently in use for the treatment of chronic hepatitis B virus (HBV) infection. Low-dose ADV-induced nephrotoxicity in most cases was reported to be reversible after the discontinuation of ADV or by decreasing the dose of ADV. In our study, we have 5 documented cases of low-dose ADV-induced hypophosphatemia osteomalacia with or without Fanconi syndrome which were diagnosed in our hospital between 2010 and 2017. Three patients were observed to have a full recovery after the discontinuation of ADV. Two patients had persistently elevated urine ß2-microglobulin levels and out of these two patients, one patient had persistent hypophosphatemia after the cessation of ADV. These cases illustrated that the use of low-dose ADV increased the risk of nephrotoxicity, and in some patients, low-dose ADV-induced nephrotoxicity was not completely reversible. Patients of East Asian origin, especially those with a low body mass index, were prone to a relatively higher risk of developing low-dose ADV-induced nephrotoxicity; therefore, it was worth paying attention to the side effects caused by low-dose ADV.

A 24-week, parallel-group, open-label, randomized clinical trial comparing the early antiviral efficacy of telbivudine and entecavir in the treatment of hepatitis B e antigen-positive chronic hepatitis B virus infection in adult Chinese patients.

BACKGROUND: Because drug-resistant strains of hepatitis B virus (HBV) have developed, and because serum HBV-DNA levels may rebound in patients who receive treatment with nucleoside/nucleotide analogues for up to 2 years, there remains a largely unmet clinical need for agents to induce potent virologic suppression in the initial stage of the disease course of HBV infection. OBJECTIVE: The aim of this work was to compare the early antiviral effectiveness of telbivudine and entecavir in the treatment of patients with hepatitis B e antigen (HBeAg)-positive HBV. METHODS: In this parallel-group, open-label trial, adult Chinese patients with previously untreated HBeAg-positive HBV (HBV-DNA concentration: >or=6 log(10) copies/mL; alanine aminotransferase [ALT] level: >or=2 times the upper limit of normal) were randomized to receive telbivudine 600 mg or entecavir 0.5 mg daily for 24 weeks. Blood samples were collected at the baseline and at 12 and 24 weeks after the treatment. The primary end point was the mean reduction from baseline in serum HBV-DNA concentration at week 24. Secondary end points included mean reduction from baseline in serum HBV-DNA concentration at week 12, the absence of serum HBV-DNA, absence of serum HBeAg, HBeAg seroconversion at week 24, the normalization of serum ALT at week 24, and occurrence of adverse events through week 24. RESULTS: A total of 131 patients were enrolled in the study: 91 men and 40 women, with a mean (SD) age of 32.5 (8.9) years. All patients were ethnic Han Chinese. The baseline demographic characteristics and serum HBV-DNA concentrations in the 2 treatment groups were well matched. Sixty-five patients were randomized to receive telbivudine and 66 to receive entecavir. The mean reductions from baseline in serum HBV-DNA were 4.99 and 4.69 log(10) copies/mL at week 12, respectively, and 6.00 and 5.80 log(10) copies/mL at week 24 (both time points, P = NS between groups). At week 12, HBV-DNA was undetectable in 43.1% (28/65) of the telbivudine group and 34.8% (23/66) of the entecavir group (P = NS); at week 24, it was undetectable in 67.7% (44/65) of the telbivudine group and 57.6% (38/66) of the entecavir group (P = NS). At week 12, HBeAg absence and seroconversion rates were significantly greater in the telbivudine group than the entecavir group (absence: 20.0% [13/65] vs 3.0% [2/66], respectively [P = 0.002]; seroconversion: 13.8% [9/65] vs 3.0% [2/66] [P = 0.030]). However, at week 24, HBeAg absence and seroconversion rates were comparable between the telbivudine and entecavir groups (absence: 36.9% [24/65] vs 28.8% [19/66] [P = NS]; seroconversion: 24.6% [16/65] vs 13.6% [9/66] [P = NS]). In addition, the normalization of ALT levels was observed in 78.5% (51/65) and 74.2% (49/66) of patients treated with telbivudine and entecavir, respectively, at week 24 (P = NS). The adverse events were upper respiratory tract infection (12.3% of telbivudine patients vs 9.1% of entecavir patients), fatigue (6.2% vs 7.6%), diarrhea (1.5% vs 3.0%), and coughing (0% vs 1.5%), most of which were mild to moderate. Elevated creatinine phosphokinase was noted in 8 telbivudine-treated patients (12.3%). There were no statistically significant differences in rates of adverse events between groups except for creatinine phosphokinase. CONCLUSION: In this study of ethnic Han Chinese adults with previously untreated HBeAg-positive HBV infection, there were no statistically significant differences in effectiveness or tolerability between telbivudine 600 mg and entecavir 0.5 mg at the end of 24 weeks of treatment. ChiCTR.org identifier: ChiCTR-TRC-00000341.