Clinical analysis of 112 cases of parotid gland tumors. The thoroughness of the first surgery is particularly important; therefore, surgery should involve preservation of the facial nerve with either a superficial or total parotidectomy. Treatment for malignant parotid gland tumors involves preserving the facial nerve while excluding lymph node and distant metastasis (preoperative), followed by postoperative radiotherapy and chemotherapy plus total cheek gland resection. Thirdly, regarding facial nerve treatment: during surgery in this group of patients, the facial nerve was retained, and facial nerve function returned to normal within three months, improving the quality of life of the patients. Our approach involved peeling adhesion tissues from the network around the facial nerve as much as possible during surgery, removing the traffic branch, applying basal injection to the conventional surgical wound, and wet dressing with carboplatin for over half an hour. In this group of patients, there were three recurrences of malignant transformation, with the preservation of the facial nerve requiring further study.
Spinocerebellar ataxia type 2
Department of Neurology, First Affiliated Hospital of Xinjiang Medical University (830054)
Lei Jing Ma Jianhua Zhang Xiaoning
Spinocerebellar ataxia type 2 (spinocerebellaratax {atype2, SCA2) is an autosomal hereditary spinocerebellar ataxia type I (al1.tosomaldominantcerebellarataxiatypeII, ADCAII). Its typical symptoms include early onset peripheral neuropathy, diminished or disappeared tendon reflexes, slow delayed (urgent) eye movements, myoclonus, and it is less associated with mental retardation. In 1996, PulstSM et al cloned the gene, finding that the coding region of exon 1 contains an unstable polymorphic CAG repeat sequence, confirming that over-amplification of CAG repeats causes SCA2. Manifestations of cerebellar ataxia associated with extrapyramidal damage in families with the SCA2 gene containing a CAG repeat region were detected, finding the existence of three asymptomatic SCA2 (CAG) n expansion mutation cases.
Materials and Methods:
General Information: Five human cases across three generations with 25 members, including three women and two men. Age of onset ranges from 28 to 41 years old, averaging 34 years old. Disease course ranges from 3 to 17 years, averaging 8.8 years. II13 had an onset at 236 years of age, lasting 17 years; II9 had an onset at 32 years of age, lasting 10 years, both died of complications. Figure 1-1 shows their pedigree.
Patients were clinically diagnosed using Harding standards. Figure 1-1 shows the pedigree (autosomal dominant inheritance pattern), one of the research methods.
Genomic DNA Extraction: Peripheral venous blood was collected from all family members (4n1l), preserved at 20°C, and genomic DNA was extracted using the PEL-FREEZSSP kit (Beijing Bory) as a PCR template.
Primer Design and Synthesis: SCA2 primers were designed and synthesized based on the C ~ enebank SCA2 gene sequence (Shanghai Sangon). SCA2 forward primer: 5’ AGCGT GCGAGOCGGTGTAT 3’. Reverse primer: 5’ GGAOGAGGA AAGG-3’.
Gene CAG Repeat PCR Amplification: Reaction volume 20tA, DNA template 25ng per primer, 12pmol IVlgCI2 final concentration of 1.0mmol/L, 10× LoadingBuffer1.8/A, dNTP final concentration 200psnol/L, Taq enzyme 1U (Shanghai Sangon).
Reaction Conditions: Selected TOUCHDOWN response program, gradually decreasing by 0.5°C as a unit, denaturation at 94°C for 3min, denaturation at 94°C for 30s, annealing at 71°C for 45s, extension at 72°C for 45s, 14 cycles: denaturation at 94°C for 30s, 64°C for 45s, extension at 72°C for 45s, 25 cycles, final extension of 7min.
Electrophoresis Preliminary Judgment Genotype: Sampled 10ul of PCR amplification product on a 2% agarose gel containing ethidium bromide, electrophoresed at voltage lOV/cm for 15 minutes, observed under ultraviolet light detection camera BIORAD UV gel imager.
CAG Copy Number Calculation: SCA2 primers 5' end modified with FAM and HEX fluorescence (Shanghai Sangon), using Pfu enzyme, PCR reaction conditions as above. Fluorescently labeled PCR amplification products were capillary electrophoresed (ABI3100 sequencer) GeneSav3 7 software, accessing the length of the tested DNA fragments. CAG repeat copy number: [DNA fragment length (bp) - flanking region of a CAG repeat length (bp)] / 3.
Results of (CAG) n mutation detection: Three cases of patients with SCA2 and 3 symptomatic cases.