[Analysis of gene mutation in a family with Muir-Torre syndrome accompanied with extraorbital cystic sebaceous carcinoma].

This study reported a family of MLH1 mutation-induced Muir-Torre syndrome (MTS) and evaluated it's clinical and genetic characteristics. A 51 year-old patient with extraorbital cystic sebaceous and colon adenocarcinoma diagnosed in November 2021 in Zhongshan Hospital of Xiamen University was included. The clinical data of the family were collected and a pedigree chart was drawn, which was in line with the Chinese Lynch syndrome diagnostic criteria and was a typical MTS family. NM_000249.4:c.298C>T(p.R100*) of MLH1 gene in exon 3 was detected by whole exome sequencing and multiplex ligation dependent amplification, which is a pathogenic mutation. After the pathogenic mutation was identified, Sanger sequencing was performed on 4 direct members of the family for MLH1 gene, and 3 family members were found to have detected the mutation and included in MTS risk control. Until December 25 2023, follow-up showed the proband patients were not suffered from recurrence or new occurrence of skin or gastrointestinal tumors. The study reported a typical MTS family and found a possible pathogenic nonsense mutation in the MLH1 gene, which provides new evidence for the pathogenicity of this mutation.

[The efficacy of external physical vibration lithecbole in the assistant treatment of the upper urinary tract residual stones: a meta-analysis].

Objective: To determine the clinical effect of Friend-Ⅰ External Physical Vibration Lithecbole (EPVL) by Meta-analysis. Methods: Pubmed, Embase, Medline, Cochrane Library, Chinese National Knowledge Infrastructure were searched for clinical trials comparing EPVL with the conventional treatment. The quality of included studies was assessed and Meta-analysis was conducted by Review Manager 5.3 software. Results: Five randomized or Quasi-randomized controlled trials met the inclusion criteria. The first day stone expulsion rate of EPVL group was superior to the control group (OR=4.95, 95% CI: 3.35-7.32, P<0.000 01). Both one-week (OR=3.13, 95% CI: 1.95-5.04, P<0.000 01) and two-week stone free rate (OR=4.50, 95% CI: 2.02-10.00, P=0.000 2) were statistically higher in the EPVL group than that in the control group. No severe adverse event occurred during the follow-up. Conclusions: Our study suggested that EPVL could be the effective treatment for upper urinary tract residual stone. However, more high quality randomized controlled trials are needed to better affirm this.

Home dampness, childhood asthma, hay fever, and airway symptoms in Shanghai, China: associations, dose-response relationships, and lifestyle's influences.

Numerous studies of associations between dampness and respiratory diseases have been conducted, but their implications remain inconclusive. In this study of 13,335 parent-reported questionnaires (response rate: 85.3%), we analyzed associations between home dampness and asthma and related symptoms in 4- to 6-year-old children in a cross-sectional study of Shanghai. Indicators of home dampness were strongly and significantly associated with dry cough, wheeze, and rhinitis symptoms. In the current residence, children with visible mold spots (VMS) exposure had 32% higher risk of asthma (adjusted OR, 95% CI: 1.32, 1.07-1.64); damp clothing and/or bedding (frequently) was strongly associated with dry cough (1.78, 1.37-2.30); condensation on windows was strongly associated with hay fever (1.60, 1.27-2.01). In the early-life residence, VMS or damp stains (frequently) were strongly associated with dry cough (2.20, 1.55-3.11) and rhinitis ever (1.57, 1.11-2.21). Associations between dampness and diseases among children with or without family history of atopy were similar. The total number of dampness indicators had strong dose-response relationships with investigated health outcomes. Actions, including opening windows of the child's room at night and cleaning the child's room frequently, could potentially mitigate 25% of home VMS, thereby preventing more than 1.5% of attributable risk of the studied symptoms.

Percutaneous internal maxillary arterial embolization with ethylcellulose microspheres. Results in an animal model.

RATIONALE AND OBJECTIVES: To investigate the use of ethylcellulose microspheres as long-term and peripheral emboli for percutaneous maxillofacial arterial embolization. METHODS: Eight mongrel dogs were selected randomly for internal maxillary artery embolization with ethylcellulose microspheres. After embolization, angiographic, microangiographic, and histologic examinations were performed. RESULTS: Ethylcellulose microspheres were trapped in the peripheral arterioles from 24 hours to 6 months after embolization. Degenerative changes of maxilla, mandible, and dental pulp occurred after the embolization of the internal maxillary artery with the microspheres. No evidence of whole or focal necrosis of the bones and surrounding soft tissues was found between 24 hours and 6 months after embolization. CONCLUSION: Ethylcellulose microspheres can be used as an alternative long-term and peripheral embolic agent, with potential for percutaneous maxillofacial arterial embolization.

Experimental maxillofacial arterial chemoembolization with encased-cisplatin ethylcellulose microspheres.

PURPOSE: To compare chemoembolization with conventional chemotherapy and explore the possibility of chemoembolization in the oral and maxillofacial region using encased-anticancer-drug microspheres. METHOD: Six mongrel dogs were divided into two equal groups, an experimental group undergoing maxillofacial arterial chemoembolization with cisplatin encased in ethylcellulose microspheres, and a control group undergoing the conventional chemotherapy with cisplatin. The peripheral venous cisplatin concentration and the cisplatin concentration at the local tissue were determined. RESULT: The experiment showed a significant difference in the peripheral venous cisplatin concentration between the two groups and between the time period. There was also a significant interaction between groups and time. The peak concentration in the experimental group appeared 12 to 24 hours after chemoembolization. The peak concentration in the control group appeared immediately after the anticancer drug was infused. There was a significant difference in the concentration in the local tissue between the two groups, when all time periods were aggregated. CONCLUSION: Compared with conventional chemotherapy, the maxillofacial arterial chemoembolization with cisplatin encased in ethylcellulose microspheres significantly decreases the cisplatin concentration in the peripheral venous circulation and increases the concentration in the local tissues, allowing for the possibility of target cancer therapy.

Recurrent swelling of parotid glands and Sjögren's syndrome.

This study included 125 patients with chronic parotitis, and it presents in particular, a long-term clinical, laboratory, and sialographic study of 22 patients who were diagnosed as having adult recurrent sialadenitis of the parotid glands (ARSPG). Twelve of the 22 patients with ARSPG were shown to have Sjögren's syndrome (SS). These patients had recurrent parotid gland swelling for 1.5-14 years (mean, 5.2 years) before xerostomia and keratoconjunctivitis sicca occurred. Ten of the 22 patients with ARSPG did not develop SS, but did experience recurrent parotitis which extended from childhood into adulthood. The ARSPG underwent remission in seven of these patients. It is suggested that patients with ARSPG, but without a history of parotid gland swellings in childhood, should be diagnosed provisionally as having subclinical SS (SCSS).

Recurrent parotitis in adults. Report of 35 cases.

Clinical, laboratory and sialographic findings were studied in 35 adult patients with recurrent parotitis. The patients were followed up for 0.5-23 years. The results showed that sialographic recovery occurred 3-5 years after disappearance of clinical symptoms. Recurrent parotitis is not a autoimmune disease, and remission may take place spontaneously, including clinical and sialographic healing. However, marked degeneration of the parotid gland or chronic obstructive parotitis may develop consequently. The differential diagnosis of recurrent parotitis in adults is also discussed.

Sialographic changes related to clinical and pathologic findings in chronic obstructive parotitis.

This paper presents the results from a study of 23 patients with chronic obstructive parotitis (COP) in whom the sialographic changes were related to the clinical and histopathologic features. The sialographic changes were divided into four types. The stimulated parotid flow rate (SPFR) was normal in sialography Type I patients, while SPFR was significantly reduced in Types II, III, and IV patients, as compared with healthy persons. The changes observed by light microscopy were irregular dilation and chronic inflammation of main and branching ducts with saliva deposits in the enlarged luminal system. Ultrastructural changes included degeneration of ductal epithelial cells, marked proliferation of periductal fibrous tissue, and moderately electron-dense deposits in the lumen of the dilated peripheral ducts. The extent of the histopathologic changes largely paralleled the severity of the sialographic changes. These findings indicate that COP is a relatively common inflammatory disease and that the sialographic classification reflects the severity of the disease.

[Chronic obstructive parotitis: a report of 92 cases].

This article presents 92 cases (117 diseased parotid glands) of chronic obstructive parotitis with studies by clinical, sialographical, sequential quantitative scintigraphy methods and with investigation of the treatment. The nature of this disease is that various local factors cause obstruction of saliva flow resulting in recurrent swelling of parotid, in which the main feature in sialography is irregular dilatation of the main duct and branch duct. Sialographical manifestations can be divided into four types. Conservative, operative therapy and injection into diseased gland with 1% methyl violet are introduced to treat this disease. Long follow-up findings show that type I in sialography can be cured by conservative method, but other types to not respond to this method and should be treated by other methods, such as parotidectomy. We have used 1% methyl violet to treat cases who have swelling of parotid after conservative therapy. It is considered to be a simple, practical and good method and should only be used in this disease. There are no other side effects except swelling of parotid for a few weeks. Especially it can be used to treat the anterior part of main duct left over by parotidectomy, which still gives off purulent discharge.

Chronic obstructive parotitis. Report of ninety-two cases.

Clinical, sialographic, and sequential quantitative scintigraphic characteristics of 92 cases of chronic obstructive parotitis (in 117 diseased parotid glands) are reported, and the treatment investigated. The cardinal feature of this disease is obstruction or retarded salivary flow resulting in recurrent swellings and retrograde infection. The main characteristic seen in sialograms is irregular dilation of the main and branching ducts. On the basis of sialographic findings, the ducts are classified into four types. This classification reflects the severity of the disease and can also be used as a guide to treatment.

[Recurrent parotitis in childhood (report of 102 cases)].

This article presents 102 cases of recurrent parotitis in childhood with studies of clinical findings, sialographic manifestations, dynamic functions of the parotid gland examined with radionuclide, laboratory findings and follow-up studies of 28 cases including sialography. The following conclusions are reached: 1. The etiology is retrograde infection induced by mumps virus and upper respiratory infection which lower the resistance of the child. Familial abnormalities are potential factors. Incomplete immune function of the children is also a factor related to pathogenesis of this disease, and following growth and development of the immune system this disease will undergo remission. 2. This disease involves both parotid gland generally. 3. Sialographic manifestations will disappear following subsidence of clinical symptoms, but it may take years. 4. If the disease has not been cured in childhood, it may continue to adult and then healing will take place. Relationship with Sjögren's syndrome has not been revealed.

Recurrent parotitis in children. A report of 102 cases.

This article presents 102 cases of recurrent parotitis in children with studies of clinical findings, sialographic manifestations, dynamic functions of the parotid gland examined with radionuclide, laboratory findings and follow-up studies of 28 cases with sialography. The following conclusions are reached: 1. Retrograde infection induced by the mumps virus and upper respiratory infection seem to play a major role in the etiology of recurrent parotitis. Familial abnormalities are potential factors. Incomplete immune functions of the children are factors related to the pathogenesis, and following growth and development of the immune system, this disease will undergo remission; 2. Sequential scintigraphy shows normal uptake and retarded excretion function of the parotid; 3. Long-term follow-up studies demonstrate that the patients are free from symptoms for many years, but the punctate dilatation in sialography may diminish, disappear, or be unchanged; and 4. If the disease is not cured in childhood, it may continue into adulthood and healing will take place eventually. Relationship with Sjogren's syndrome has not been revealed.

Computed tomography of parotid masses.

Fifty-six patients with parotid masses, benign tumors in 22, malignant tumors 26 and other diseases 8, were examined by CT scan, which can differentiate intrinsic from extrinsic parotid lesions, especially deep lobe from parapharyngeal tumors and typical benign tumors from malignant ones, but may fail to differentiate aggressive benign tumors from low-grade malignant ones. CT sialography was done to detect the relation between the trunk of the facial nerves and tumor according to the band of normal parotid tissue between the tumor and posterior border of the mandibular ramus, and incremental dynamic CT with intravenous bolus injection of contrast medium to detect the relation between the tumor and carotid sheath. We conclude that the images of CT sialography are much better than those of plain CT and intravenous enhancement CT.