[Clinical Analysis of 17 Adult Patients With Fulminant Type 1 Diabetes Mellitus].

Objective: To explore the clinical characteristics of adult patients with fulminant type 1 diabetes mellitus (FT1DM), a specific subtype of type 1 diabetes mellitus (T1DM). Methods: We collected the clinical data of patients who were admitted to West China Hospital, Sichuan University in 2010-2019 for FT1DM and type 1 diabetes mellitus (T1DM) presenting with diabetic ketoacidosis (DKA) at the onset. In addition, all the FT1DM patients were followed up. Results: A total of 70 patients presenting with DKA at the onset of T1DM were admitted to and received treatment at West China Hospital in 2010-2019. Among them, 17 (24.3%) had FT1DM and 53 did not. The mean ages of the FT1DM patients and the non-FT1DM patients were (33.2±12.8) years and (27.5±11.2) years, and the mean body mass indices were (22.6±2.9) kg/m 2 and (19.2±2.9) kg/m 2, respectively. A total of 14 FT1DM cases had symptoms of upper respiratory tract infection or acute gastroenteritis before the onset of the disease and 4 cases were related to pregnancy. The median time from the onset of the disease to the first diagnosis of DKA of the FT1DM group (median [P 25-P 75]: 2 [1-4] days, P<0.001) was significantly shorter than that of the non-FT1DM group (median [P 25-P 75]: 30 [17-78] days). The mean maximum blood glucose levels at the time of the first visit to the doctor of the FT1DM patients ([39.9±11.4] mmol/L, P<0.001) were significantly higher than that of the non-FT1DM patients ([28.9±9.2] mmol/L), but the HbA1c (6.6%±0.6%, P<0.001) and glycosylated serum albumin (GA) (21.4%±3.0%, P=0.001) levels of the FT1DM patients were significantly lower than those of the non-FT1DM group (HbA1c: 12.8%±2.7%; GA: 44.8%±15.0%). The median serum amylase in the FT1DM group was significantly higher than that in the non-FT1DM group (101 [54-336] IU/L vs. 54 [42-166] IU/L, P=0.045) and the median serum lipase in the FT1DM group showed a trend of being higher than that in the T1DM group (81 [57-154] IU/L vs. 46 [28-195] IU/L, P=0.051). 8.7% of the non-FT1DM patients tested positive for anti-glutamic acid decarboxylase antibody (GAD-Ab), while the FT1DM patients all tested negative. At the time of discharge, the mean daily insulin dose of the FT1DM patients was (0.67±0.22) IU/kg, which was not significantly different from that of the non-FT1DM group ([0.74±0.29] IU/kg, P=0.349). After about 6.5 years of follow-up, the mean daily insulin dose of the FT1DM patients was (0.73±0.19) IU/kg, which was similar to the insulin dosage on discharge ( P=0.409). Conclusion: Compared with the non-FT1DM patients presenting with DKA at the onset, FT1DM patients have fewer typical diabetic symptoms, lower fasting C-peptide levels, higher serum amylase levels, and increased incidence of vomiting or other symptoms of gastrointestinal infections, and are more likely to be misdiagnosed. Therefore, it is very important for clinicians to correctly identify FT1DM as early as possible and administer early and long-term insulin replacement therapy.

Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report.

BACKGROUND: Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts. Approximately, 80% of autosomal dominant osteopetrosis type II (ADO-II) patients were usually affected by heterozygous dominant mutations in the chloride voltage-gated channel 7 (ClCN7) gene and present early-onset osteoarthritis or recurrent fractures. In this study, we report a case of persistent joint pain without bone injury or underlying history. CASE SUMMARY: We report a 53-year-old female with joint pain who was accidentally diagnosed with ADO-II. The clinical diagnosis was based on increased bone density and typical radiographic features. Two heterozygous mutations in the ClCN7 and T-cell immune regulator 1 (TCIRG1) genes by whole exome sequencing were identified in the patient and her daughter. The missense mutation (c.857G>A) occurred in the CLCN7 gene p. R286Q, which is highly conserved across species. The TCIRG1 gene point mutation (c.714-20G>A) in intron 7 (near the splicing site of exon 7) had no effect on subsequent transcription. CONCLUSION: This ADO-II case had a pathogenic CLCN7 mutation and late onset without the usual clinical symptoms. For the diagnosis and assessment of the prognosis for osteopetrosis, genetic analysis is advised.

[Clinical Characteristics and Prognosis of Diabetic Foot Ulcers Patients of Different Renal Function Statuses].

Objective: To explore the clinical characteristics and the prognosis of diabetic foot ulcers (DFU) inpatients of different renal function statuses. Methods: A retrospective analysis of 962 inpatients with DFU was conducted. The patients were divided into three groups according to their renal function statuses, and the clinical characteristics of the three groups were compared to identify differences. In addition, the patients were followed up in outpatient clinics or by telephone and their prognostic status and risk factors for death were analyzed. Results: Analysis of the clinical characteristics showed that, compared with diabetic patients with normal renal function or mild renal function impairment, diabetic patients with moderate and severe renal function impairment had a longer course of disease ( P<0.001). Patients with foot ulcers of Wagner grade 4 predominates the moderate and severe renal function impairment groups ( P<0.05). Patients in the moderate and severe renal function impairment groups had a relatively higher proportion of comorbidities, including hypertension, coronary heart disease, and peripheral arterial disease ( P<0.05). These patients had relatively lower levels of glycosylated hemoglobin and hemoglobin (all P<0.05) and relatively higher levels of neutrophil ratio and procalcitonin (all P<0.05). Of the two groups, patients in the moderate renal function impairment group were older ( P<0.001) and had lower ankle-brachial index ( P<0.001). The severe renal function impairment group had a higher proportion of patients with foot ulcers of Wagner grades 3 and 5 (all P<0.05). For the purpose of conducting prognostic analysis, 748 patients were followed up in outpatient clinics or by telephone for a median length of 41 months. Among them, 239 died. The all-cause mortality was 31.9%, and the mortality in the three groups was 25.8%, 46.2% ( P<0.001), and 59.4% ( P<0.001), respectively. The survival rate of patients in the moderate and severe renal function impairment groups was significantly lower than those in the normal renal function and mild renal function impairment groups ( P<0.001). Univariate Cox regression analysis showed that age, concomitant coronary heart disease and peripheral arterial disease, degree of renal function impairment, and foot ulcers of Wagner grade 4 and 5 were associated with all-cause deaths. Furthermore, multivariate Cox regression analysis showed that moderate and severe renal function impairment was an independent risk factor for all-cause deaths in DFU patients ( P<0.001). Conclusions: As renal function impairment worsens, patients with DFU present clinical characteristics of greater complexity, higher risks of cardiovascular events, and higher mortality. It is essential to prevent kidney damage and foot ulcers, to pay attention to the cardiovascular risks of DFU patients with moderate and severe renal function impairment, and to reduce mortality.

[Clinical Characteristics of Diabetic Patients with Initial and Recurrent Foot Ulcers].

Objective: To explore the risk factors for the recurrence of foot ulcers by analyzing clinical characteristics of the patients with diabetic foot ulcers (DFU) in West China Hospital, Sichuan University. Methods: A retrospective analysis was carried out with the clinical data of 817 DFU patients hospitalized at West China Hospital, Sichuan University between January 1, 2012 and December 31, 2020. The patients were divided into an initial ulceration group (502 cases) and a recurrent ulceration group (315 cases) according to their history of foot ulcers. The differences in clinical characteristics between the two groups were compared, and multivariate logistic regression analysis was conducted to identify the risk factors associated with the recurrence of foot ulcers. Results: Initial and recurrent DFU patients both had predominantly neuro-ischemic foot ulcers, and the most common sites of ulceration were the first and fifth toes in both groups. Compared with the initial DFU group, more patients in the recurrent group had foot ulcers of Wagner grade 3 and ulcerous wounds located on calluses ( P<0.05), and fewer patients in the recurrent group suffered from foot gangrene ( P<0.05). Patients with recurrent DFU had lower glycated hemoglobin, platelet counts, and fibrinogen levels ( P<0.05), and higher serum uric acid and creatinine levels ( P<0.05). Hemoglobin, white blood cell count, estimated glomerular filtration rate, erythrocyte sedimentation rate and C-reactive protein levels were not significantly different between the two groups ( P>0.05). Multivariable logistic regression analysis showed that male sex ( OR=1.555, 95% CI: 1.097-2.204, P=0.013), duration of diabetes≥10 years ( OR=2.369, 95% CI: 1.473-3.810, P<0.001), history of amputation ( OR=4.518, 95% CI: 2.386-8.553, P<0.001), foot osteoporosis ( OR=1.711, 95% CI: 1.065 to 2.751, P=0.027), ulcerous wound located on foot callus ( OR=1.786, 95% CI: 1.058-3.012, P=0.030), and coronary heart disease ( OR=0.668, 95% CI:0.453-0.987, P=0.043) were significantly associated with the recurrence of foot ulcers. Conclusions: Male sex, duration of diabetes being over 10 years, history of previous amputation, foot osteoporosis, and ulcerous wounds located on foot callus are independent risk factors of recurrent foot ulcers in patients with DFU. Therefore, even after their foot ulcers have healed, special attention should be given to the care of foot for patients with DFU, which may reduce the recurrence of foot ulcers.

[Levels of PCDD/Fs and dioxin-like PCBs in soils near E-waste dismantling sites].

One hundred and fifty one soil samples from 125 sampling points were collected near E-waste dismantling sites and analyzed for polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/Fs) and dioxin-like polychlorinated biphenyls (PCBs). Total concentration of PCDD/Fs in topsoil samples ranged from 280 pg x g(-1) to 7 010 pg x g(-1) dry weight with the mean value of 1 380 pg x g(-1) dry weight. The mean value of the second layer and the deepest layer is 63% and 38% of that of top soils, respectively. The toxic equivalent quantity (TEQ) of PCDD/Fs in top soils ranged from 1.4 pg x g(-1) to 94.8 pg x g(-1) (I-TEQ). According to the guidelines for TEQ concentrations established in Germany, 19 of 125 topsoil samples (15% of the total topsoil samples analyzed) could not be expected to pose human health hazards. The rest of 85% of top soils needs investigations of source identification. If the contribution of PCB to TEQ was considered, 98% of top soils need investigations of source identification. Principle component analysis (PCA) is used to identify the PCDD/Fs sources. The homologue profiles of PCDD/Fs showed that dismantling activities are the main emission resources of the PCDD/Fs from thermal processes, also are the main emission resources of the PCDD/Fs in soils of this area.