Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.

The CACNA1A gene encodes the alpha-1A subunit of P/Q type voltage-gated calcium channel Cav2.1, which is associated with a broad clinical spectrum and variable symptomatology. While few patients with progressive ataxia caused by CACNA1A missense variants have been reported, here we report three unrelated Chinese patients with progressive ataxia due to de novo missense variants in the CACNA1A gene, including a novel pathogenic variant (c.4999C > G) and a previously reported pathogenic variant (c.4037G > A). Our findings and a systematic literature review show the unique phenotype of progressive ataxia caused by missense variants and enlarge the genetic and clinical spectrum of CACNA1A. This suggests that in addition to routine screening for dynamic mutations, screening for CACNA1A variants is important for clinicians facing patients with progressive ataxia.

[Augmenting locking plate with autologous bone graft for the treatment of nonunion of long bone fracture in the lower extremity with retaining of the original intramedullary nail].

OBJECTIVE: To explore clinical effect of attaching locking plate with bone grafting based on retaining the original intramedullary nail in treating non-union after intramedullary nail fixation of long shaft fractures of lower limbs. METHODS: A retrospective study was conducted on 20 patients treated with non-union fractures after intramedullary nailing of long shaft fractures of lower limbs from June 2015 to June 2020. All patients were treated with the original intramedullary nailing and bone grafting from the iliac bone, and were underwent open reduction plate internal fixation and bone grafting for old fractures. Among them, 14 were males and 6 were females, aged from 35 to 56 years old with an average of (42.2±9.6) years old. Nine patients were femoral shaft fracture and 11 patients were tibial shaft fracture. According to characteristics of fracture end nonunion, 6 patients were stable/atrophic, 9 patients were unstable/large, and 5 patients were unstable/atrophic. The nonunion time ranged from 8 to 12 months with an average of(9.8±2.0) months after the initial surgery. Visual analogue scale (VAS), knee range of motion, bone healing time, complications and fracture-end healing were recorded before and at the latest follow-up. RESULTS: All patients were followed up for 18 to 48 months with an average of (36.3±10.5) months. The incision of all patients were healed at stageⅠwithout complications such as infection or internal fixation ruptur. Healing time of femur and tibia was (8.5±2.6) months and (9.5±2.2) months. Knee joint motion increased from preoperative (101.05±8.98) ° to postoperative (139.35±8.78) ° at the latest follow-up (t=-12.845, P<0.001). VAS decreased from preoperative (5.15±1.72) to postoperative (0.75±0.96) at the latest follow-up (t=11.186, P<0.001). CONCLUSION: On the basis of retaining the original intramedullary nail, the addition of locking plate internal fixation and autogenous iliac bone grafting have advantages of simple operation, less trauma, fewer complications and high fracture healing rate. It is one of the effective surgical schemes for the treatment of nonunion after intramedullary nail fixation of long bone fracture of lower extremity.

CAT Interruption as a Protective Factor in Chinese Patients with Spinocerebellar Ataxia Type 1.

Spinocerebellar ataxia type 1 (SCA1) is the third most common type of spinocerebellar ataxias in China. CAT interruptions in the pathogenic alleles of SCA1 patients had only been reported by limited documents and there was a lack of data based on the Chinese population. In this study, we detected CAT interrupted pathogenic alleles in SCA1 patients from 4 out of 79 (5.1%) Chinese families. Their total CAG repeats were larger (median 58 vs. 47, p < 0.001) but ages at onset were later (median 46 vs. 38, p = 0.020). The longest uninterrupted CAG repeats could explain 65.4% of the AAO variance, making an increase of 28.0% compared to the total CAG repeats. The interruption pattern was greatly different between Chinese cohort and Caucasian cohort, indicating the effect of race.

Survey of Foodservice Management Status according to Welfare Facility Type for Disabled Persons

This study aimed to determine foodservice and hygiene management statuses at welfare facilities catering to disabled persons by facility type to provide basic data for foodservice management guidelines. An online survey was distributed to workers at 1,984 welfare facilities for disabled persons in Korea, and 531 facilities responded, which represented a response rate of 26.8%. The survey requested general information about the facilities, facility users, meals, hygiene, and management. Statistical analyses were performed, and frequency analysis and the chi-square test were used to investigate responses by facility type. The survey results revealed that daycare centers were most common and accounted for 27.4% of responses. Residential facilities for the severely disabled and sheltered workshops accounted for 16.9% and 16.4%, respectively, and residential facilities by disability type accounted for 13.0%. The presence of dietitians at welfare facilities varied by facility type. Welfare centers for the disabled (94.7%) had the highest percentage of dietitians, followed by residential facilities for the severely disabled (87.8%). On the other hand, sheltered workshops and daycare centers for disabled persons had the lowest percentages of dietitians (10.3% and 4.1%, respectively). This study highlights the variations that exist in foodservice management across different welfare facilities for disabled persons and emphasizes the challenges faced by those responsible for managing foodservices and maintaining hygiene, particularly in large facilities with no dietitians. Therefore, we recommend tailored meal management guidelines be developed for each type of welfare facility for disabled persons.

Fine-needle aspiration cytology of an intrathyroidal nodule diagnosed as squamous cell carcinoma: A case report.

BACKGROUND: Both squamous cell carcinoma (SCC) and papillary thyroid carcinoma (PTC) are common malignant tumors in the neck. However, seldom has SCC of the thyroid been diagnosed. Further, cytological features of SCC and PTC have rarely been reported. The significance of fine-needle aspiration cytology (FNAC) in the diagnosis of neck masses has been established. Herein, we present an exceedingly rare case of an intrathyroidal SCC diagnosed using FNAC, along with its cytological features. CASE SUMMARY: A 66-year-old man presented with a left-sided neck mass. Ultrasound examination showed an ill-defined nodule. The appearance was hypoechoic with a few hyperechoic spots. FNAC of the left thyroid nodule was performed. A cellular smear was obtained, and it showed a large number of neoplastic cells with rich cytoplasm and poor cell adhesion. Tumor cell nuclei showed coarse nuclear chromatin and a few enlarged prominent nucleoli. An increased nuclear/cytoplasm ratio was observed. Thus, malignancy was diagnosed without a confirmed tumor type. Percutaneous tumor biopsy was performed to make a definite diagnosis. The tumor cells showed typical squamous cell characteristics. CONCLUSION: Head and neck SCC and PTC have different cytologies. Measures are needed to ensure accurate diagnosis using FNAC.

Nutrition Intervention through Interdisciplinary Medical Treatment in Hospice Patients: From Admission to Death

The demand for hospice services as well as for ‘well-dying’ of terminal patients is increasing as patient financial burden is decreasing due to National Health Insurance coverage for hospice care. Hospice institutions utilize interdisciplinary teams comprising doctors, nurses, dietitians, and other health staffs to provide comprehensive patient management. This report examined the nutritional status of a hospice patient from admission to death as well as the nutrition management of this patient in the hospice ward through nutrition interventions performed by a dietitian in the interdisciplinary team. The patient in the present case was a 74-year-old man diagnosed with pancreatic head cancer who died after 26 days of hospice care following transfer from the general ward. During hospice care, the dietitian monitored the patient's nutritional status and performed 8 nutrition interventions, but his oral intake decreased as the patient's symptoms worsened. The average energy intake rates were 30% and 17% of required rates for oral and artificial nutrition, respectively. In line with a report suggesting that the main focus of nutrition in palliative care should be on improving the quality of life and reducing worry in patients, rather than aggressive nutritional management, there is a need for nutrition interventions that are personalized to individual patients by monitoring progress and offering continuous counseling from the time of admission. In addition, further studies such as comparative analysis of nutritional management in Korean hospice ward will be needed for better nutrition management for terminally ill patients.

[Clinical safety imtensive hospital monitoring on Shenfu injection with 30 106 cases].

This paper is to report the implementation and results of safety monitoring of Shenfu injection. Prospective, multicenter, large sample, registry-type centralized hospital monitoring mode was used, and the three-level quality control and anti-omissive mechanisms were used strictly. In the monitoring was carried out in 28 hospitals and lasted for 4 years. 30 106 patients were registered; ADE occurred in 114 patients, and ADR was identified in 23 patients with an incidence rate of 0.076% for ADR [95% confidence interval (0.045%,0.108%), which was in a rare level. The main ADRs included rash, pruritus, discomfort at the site of the infusion, nausea, vomiting, abdominal pain, dizziness, chest tightness, heart palpitations, chills, fever and dyspnea. No severe ADRs were found in the monitoring. This paper also fund that history of allergy, methods of administration, dosage, solvent, concentration, and combined medication may affect the incidence of ADR in the use of Shenfu injection.

Clinical application analysis of andrographolide total ester sulfonate injection, a traditional Chinese medicine licensed in China.

Andrographolide total ester sulfonate (ATES) injection is one of the products of traditional Chinese medicine (TCM) currently used against viral infection in China. ATES injection was approved for manufacturing and marketing in January 2002. It is indicated for acute respiratory infections, tonsillitis, chronic obstructive pulmonary disease, influenza, foot and mouth disease, bronchiolitis, herpangina, mumps, infectious mononucleosis and psychosis. However, its usage also carries risk. We investigated the use of ATES at the Wuhan Union Hospital from January 2014 to December 2014 and evaluated its real-world clinical application using the hospital centralized monitoring method. A total of 848 cases were enrolled in this study. In these cases, it was mainly used for postoperative anti-inflammation and treating upper respiratory infection, pneumonia and bronchitis. Among them, 39.86% were contraindicated. Irregular medication of adults and children accounted for 1.91% and 23.38%, respectively. Improper choice of solvent accounted for 3.18%. The choice of intravenous drip versus aerosol inhalation was reasonable. A case of adverse events (AEs) was observed in the monitoring period, and the incidence of adverse drug reaction (ADR) of ATES injection was 0.12%. ATES injection in our hospital is relatively safe with a low incidence of adverse reactions. The study assesses the clinical usage and adverse reactions of ATES injection, and provides suggestions for rational use in clinical practice.

Clinical Application Analysis of Andrographolide Total Ester Sulfonate Injection, a Traditional Chinese Medicine Licensed in China / 华中科技大学学报（医学）（英德文版）

Andrographolide total ester sulfonate (ATES) injection is one of the products of traditional Chinese medicine (TCM) currently used against viral infection in China.ATES injection was approved for manufacturing and marketing in January 2002.It is indicated for acute respiratory infections,tonsillitis,chronic obstructive pulmonary disease,influenza,foot and mouth disease,bronchiolitis,herpangina,mumps,infectious mononucleosis and psychosis.However,its usage also carries risk.We investigated the use of ATES at the Wuhan Union Hospital from January 2014 to December 2014 and evaluated its real-word clinical application using the hospital centralized monitoring method.A total of 848 cases were enrolled in this study.In these cases,it was mainly used for postoperative anti-inflammation and treating upper respiratory infection,pneumonia and bronchitis.Among them,39.86％ were contraindicated.Irregular medication of adults and children accounted for 1.91％ and 23.38％,respectively.Improper choice of solvent accounted for 3.18％.The choice of intravenous drip versus aerosol inhalation was reasonable.A case of adverse events (AEs) was observed in the monitoring period,and the incidence of adverse drug reaction (ADR) of ATES injection was 0.12％.ATES injection in our hospital is relatively safe with a low incidence of adverse reactions.The study assesses the clinical usage and adverse reactions of ATES injection,and provides suggestions for rational use in clinical practice.