Parotid hypertrophy is a non-neoplastic, non-inflammatory and chronic salivary gland enlargement, which leads to facial "swelling", especially in the lower and lateral parts of the face, weakens the aesthetic feeling, and adversely affects the mental health of patients to a certain extent. However, there is no standard clinical treatment. In recent years, studies have explored and confirmed that botulinum toxin type A injection showed a good clinical effect in the treatment of parotid hypertrophy. With the aim of providing reference for the clinical treatment, the review summarize the potential mechanism, methods and complications of botulinum toxin type A treating parotid hypertrophy.

OBJECTIVE: To explore the genetic basis of a patient with suspected Oculocutaneous albinism (OCA). METHODS: An OCA patient presented at the West China Second Hospital of Sichuan University and his mother were selected as the study subjects. Peripheral blood samples were collected for the extraction of, genomic DNA, and whole exome sequencing (WES) was carried out. Candidate variants were verified through specific primer amplification, Sanger sequencing, and agarose gel electrophoresis. Bioinformatic analysis and pathogenicity rating were conducted on the candidate variants. This study has been approved by the Medical Ethics Committee of West China Second Hospital (No. 2024-228). RESULTS: Genetic testing revealed that the patient had harbored variants in exon 1 of the TYR gene, including a c.157G>T (p.G53C) missense variant and a c.609dup (p.A204fs) frameshifting variant. Specific primer amplification and Sanger sequencing, combined with agarose gel electrophoresis, confirmed that these are compound heterozygous variants. Based on the guidelines from the ACMG, the c.157G>T was rated as likely pathogenic, and c.609dup was rated as pathogenic. Alphafold3 predicted that the variant proteins had significant structural changes. CONCLUSION The patient was diagnosed with OCA due to compound heterozygous variants of the TYR gene. Discovery of the c.609dup variant has enriched the mutational spectrum of OCA and provided a basis for genetic counseling and prenatal diagnosis for this patient.
Humans ; Albinism, Oculocutaneous/enzymology* ; Male ; Female ; Monophenol Monooxygenase/chemistry* ; Base Sequence ; Mutation, Missense

Craniosynostosis is a prevalent congenital craniofacial anomaly characterized by premature fusion of cranial sutures. It is of great social significance for the study and prevention of the genetic mechanism of craniosynostosis. Mutant genes such as FGFR1, FGFR2, FGFR3, TWIST1, MSX2, RAB, ERF related to craniosynostosis has been identified in humans, leading to the generation of a large number of recombinant animal models with similar functional acquisition or loss mutations to simulate various manifestations of craniosynostosis. The similarity of craniofacial development and molecular pathways between mice and humans makes them a good animal model for studying craniosynostosis. This article reviews the research progress of mouse models related to syndromic, non-syndromic craniosynostosis and craniosynostosis with non-human gene mutations, in order to provide a more comprehensive and systematic understanding of the genetic pathogenesis and treatment of this disease.

Parotid hypertrophy is a non-neoplastic, non-inflammatory and chronic salivary gland enlargement, which leads to facial "swelling", especially in the lower and lateral parts of the face, weakens the aesthetic feeling, and adversely affects the mental health of patients to a certain extent. However, there is no standard clinical treatment. In recent years, studies have explored and confirmed that botulinum toxin type A injection showed a good clinical effect in the treatment of parotid hypertrophy. With the aim of providing reference for the clinical treatment, the authors summarize the potential mechanism, Methods and complications of botulinum toxin type A treating parotid hypertrophy.

Acromegaly is a chronic disease predominantly caused by the hypersecretion of growth hormone (GH), typically due to a pituitary adenoma. The characteristic craniofacial deformities include pronounced zygomatic arches, frontal bossing, prognathism, dental malocclusion and macroglossia. It’s recommended that facial reconstructive interventions be deferred until the patient’s serum GH levels have been consistently normalized for at least 12 months. This review summarized the current knowledge on diagnosis, screening and facial management strategies for this disease.

Objective:This study aims to obtain the prevalence and features associated with Violence Against Children (VAC) in China and, thus, formulate a prevention strategy.Methods:The mortality-related data of VAC was sourced from the National Disease Surveillance Points System (DSP) during 2013-2021. We analyzed the DSP data regarding children aged 0-17 years old who died from violence. The hospital cases of VAC was sourced from the National Injury Surveillance System (NISS), 2013-2021. We analyzed the data from NISS with the parameter of "intentional injury" caused by VAC in children aged between 0-17 years. Using robust linear regression, we analyze the time trend in the proportion of violence incidence. To understand the variations in the incidence of different types of violence across genders, we apply the chi-square test and adjusted Pearson residuals.Results:The overall trend of death caused by VAC has declined; it was reduced to 0.14/100 000 in 2021 from 0.33/100 000 in 2013. In 2021, male VAC mortality (0.15/100 000) was higher than females (0.13/100 000). The proportion of VAC cases to all injury cases has declined from 3.34% in 2013 to 2.29% in 2021. Among 9 344 VAC cases supervised by hospitals in 2021, the number of males (7 503 cases) was around 4 times that of females (1 841 cases), and the top three modes of violence were blunt tools (64.77%), falls (7.46%) and sharp instruments (6.18%), and 45 cases of sexual violence included 38 girls and 7 boys.Conclusions:The declining death rate due to VAC may be related to the benign development of Chinese society. Prevention strategies targeting training in parenting skills and problem-solving should be prioritized.

Craniosynostosis is a prevalent congenital craniofacial anomaly characterized by premature fusion of cranial sutures. It is of great social significance for the study and prevention of the genetic mechanism of craniosynostosis. Mutant genes such as FGFR1, FGFR2, FGFR3, TWIST1, MSX2, RAB, ERF related to craniosynostosis has been identified in humans, leading to the generation of a large number of recombinant animal models with similar functional acquisition or loss mutations to simulate various manifestations of craniosynostosis. The similarity of craniofacial development and molecular pathways between mice and humans makes them a good animal model for studying craniosynostosis. This article reviews the research progress of mouse models related to syndromic, non-syndromic craniosynostosis and craniosynostosis with non-human gene mutations, in order to provide a more comprehensive and systematic understanding of the genetic pathogenesis and treatment of this disease.

Parotid hypertrophy is a non-neoplastic, non-inflammatory and chronic salivary gland enlargement, which leads to facial "swelling", especially in the lower and lateral parts of the face, weakens the aesthetic feeling, and adversely affects the mental health of patients to a certain extent. However, there is no standard clinical treatment. In recent years, studies have explored and confirmed that botulinum toxin type A injection showed a good clinical effect in the treatment of parotid hypertrophy. With the aim of providing reference for the clinical treatment, the authors summarize the potential mechanism, Methods and complications of botulinum toxin type A treating parotid hypertrophy.

Acromegaly is a chronic disease predominantly caused by the hypersecretion of growth hormone (GH), typically due to a pituitary adenoma. The characteristic craniofacial deformities include pronounced zygomatic arches, frontal bossing, prognathism, dental malocclusion and macroglossia. It’s recommended that facial reconstructive interventions be deferred until the patient’s serum GH levels have been consistently normalized for at least 12 months. This review summarized the current knowledge on diagnosis, screening and facial management strategies for this disease.

Objective To investigate the application effect of a bedside ultrasound-guided intestinal cleaning program in patients with severe acute pancreatitis.Methods A total of 51 patients with severe acute pancreatitis admitted to the ICU of a tertiary A hospital in Shandong from March to September 2023 were selected by convenience sampling method,and they were divided into an experimental group and a control group according to random number table method.The experimental group was given the bedside ultrasound-guided intestinal cleaning program,and the control group was given the routine intestinal cleaning program.Acute gastrointestinal injury ultrasonography score,the incidence of grade Ⅲ acute gastrointestinal injury and intra-abdominal pressure were compared between the 2 groups before intervention,on the 3rd and 5th day.Results There was an interaction effect between time and group in the comparison of acute gastrointestinal injury ultrasonography scores in the 2 groups(F=7.478,P<0.001);simple effect analysis showed that acute gastrointestinal injury ultrasonography scores in the experimental group were lower than those in control group on the 3rd and 5th day,with statistically significant differences(P<0.05).The incidence of grade Ⅲ acute gastrointestinal injury in the experimental group(23%)was lower than that in the control group(60%),with statistically significant differences(P<0.05).The intra-abdominal pressure had an interaction effect between the 2 groups(F=47.128,P<0.001);simple effect analysis showed that the intra-abdominal pressure in the experimental group was lower than that in the control group on the 3rd and 5th day,with statistically significant differences(P<0.05).Conclusion The bedside ultrasound-guided intestinal cleaning program can improve acute gastrointestinal injury and reduce intra-abdominal hypertension in patients with severe acute pancreatitis.