Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze and summarize the characteristics of glycogen storage disease type II (Pompe disease) patients according to the clinical description and prognosis.</p><p><b>METHOD</b>Seventeen Chinese patients diagnosed by acid alpha-glucosidase (GAA) enzyme activity test were reviewed. Clinical data tables were designed. Interviews were made via phone calls. Information was collected to reach the objective.</p><p><b>RESULT</b>Four of 17 patients diagnosed by acid alpha-glucosidase are infantile-onset, symptoms started between 2 to 6 months after birth with increased serum creatine kinase and cardiac problems, with or without respiratory concerns. Other 13 patients were later-onset cases, and their symptoms started between 2 to 22 years of age with increased serum creatine kinase. Eleven later-onset patients started with muscle weakness, 2 patients developed respiratory insufficiency, 2 patients showed scoliosis, and 1 patient expressed increased serum creatine kinase with abnormal liver function. Just 3 of the later-onset patients were treated with mechanical ventilator and adjuvant therapy, others were not. All patients' acid alpha-glucosidase (GAA) enzyme activity analysis showed lower than 10% of normal. Fourteen patients were tested by muscle biopsy pathology, and 9 of them progressed to glycogen storage disease type II; 10 patients received genetic analysis, and 6 of them had two mutations which cause the disorder. Twelve of the 17 patients were interviewed successfully. In 3 of the infant-onset patients the disease resulted in death from respiratory failure, and 1 is still alive at the age of 1 year and 7 months. In 4 of 8 later-onset patients the disease resulted in death from respiratory failure between 3 to 5 years after onset of symptoms. Three of 4 survivors had increased muscle weakness, and 1 patient kept alive with ventilator without any changes. Seven of 12 interviewed patients died, the mortality rate was 58.3%.</p><p><b>CONCLUSION</b>Glycogen storage disease type II (Pompe disease) present differently in the clinic. Infant-onset Pompe disease is mainly characterized by generalized muscle weakness and obvious cardiac involvement. It's a dangerous disease, with high mortality rate. Later-onset Pompe disease is characterized by chronic proximal muscle weakness and respiratory insufficiency. GAA enzyme activity analysis, muscle biopsy and genetic analysis used to support the diagnosis of Pompe disease. Prognosis of the disease depends on age of onset and respiratory muscle involvement.</p>

Efficacy of high-resolution CT in differential diagnosis of chronic suppurative otitis media and cholesteatoma otitis media by soft-tissue shadows / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To evalute the efficacy of high-resolution CT(HRCT) in differential diagnosis and treatment of chronic suppurative otitis media and cholesteatoma otitis media by soft-tissue shadows.</p><p><b>METHODS</b>HRCT scanning was performed in 120 cases, 153 ears, with chronic otitis suppurative media and cholesteatoma otitis media, of which original data were processed with multi-planar reconstruction (MPR) and maximum intensity projection (MIP), the characteristics of the soft-tissue shadows' growth, window width or window leveling and bony destruction were respectively observed, as well as compared with the surgery findings.</p><p><b>RESULTS</b>In 120 patients (153 ears), 109 ears were diagnosed as cholesteatoma otitis media, and 44 ears were diagnosed as chronic suppurative otitis media, among which 33 ears had granulation tissue and 11 ears had secretion. One hundred and seven ears were postoperatively diagnosed as cholesteatoma otitis media, among which 25 ears had granulation tissue. Among 46 ears of chronic suppurative otitis media, 35 ears had granulation tissue, and only 11 ears had secretion. A 98.6% diagnostic accuracy can be reached with HRCT in diagnosing cholesteatoma otitis media and chronic suppurative otitis media. The Youden's index was 0.98, 0.98 and 1.00 respectively with HRCT in diagnosing cholesteatoma, granulation tissue and secretion.</p><p><b>CONCLUSIONS</b>Combination of the three different imaging methods, axial images, coronal MPR images and MIP images, can improve the efficacy of the HRCT diagnosis and definite chronic otitis media, which can be routinely used for surgery plan.</p>

Surgical management and preservation of laryngeal function for senile patients with advanced laryngeal carcinoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To explore the methods of surgical treatment and preservation of laryngeal function in senile patients with advanced laryngeal carcinoma.</p><p><b>METHODS</b>A retrospective data review of 87 advanced laryngeal carcinoma patients aged over 65 years was carried out. Of these 87 patients treated by different modes of surgery, 48 had supraglottic cancer, 35 glottic cancer and 4 subglottic cancer. The surgery modes consisted of major partial laryngectomy in 36 patients, subtotal partial laryngectomy with laryngoplasty in 21 and total laryngectomy in 30. All patients received postoperative radiotherapy to a dose of 50-60 Gy. Kaplan-Meier method was used to analyze the survival.</p><p><b>RESULTS</b>The overall 3- and 5-year survival rate was 73.2% and 67.4%, respectively. The ultimate rate of larynx preservation was 65.5%. Of 57 patients with partial laryngectomy, 46 were decannulated with a decannulation rate of 80.7%. Yet, in all patients, the nasal feeding tube was removed and food intake per os was resumed. All patients who underwent partial laryngectomy regained their phonation function.</p><p><b>CONCLUSION</b>It is safe and effective to treat and preserve laryngeal function surgically in the senile patients with advanced laryngeal carcinoma. The key points to achieve this are selection of proper patient, renovation of surgical procedure and improvement of surgical skill.</p>

Comparative study on the clinical appearances between acute and chronic anterior disc displacement without reduction / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To compare the clinical appearances of TMD patients between acute and chronic anterior disc displacement without reduction.</p><p><b>METHODS</b>Successive one hundred TMD patients with fully recorded documents diagnosed as anterior disc displacement without reduction (ADDw/oR) were included, 45 acute and 55 chronic ADDw/oR patients. Clinical appearances including signs and symptoms, maximal mouth opening, Fricton's craniomandibular index, condylar bone changes on radiograms, findings on arthrograms and MRI were compared.</p><p><b>RESULTS</b>The main reason for asking treatment was joint pain in chronic, instead of limited mouth opening in acute patients. Clinical symptoms such as pain and limited mandibular movement showed improvement in chronic patients. Fricton's joint dysfunction index was higher in acute than in chronic patients, but muscle palpation index was higher in chronic than in acute patients, but Fricton's craniomandibular index was not significantly different between chronic and acute patients. The destructive bone changes of condyle on radiograms, the damage of stretched disc attachment on arthrograms and the morphological deformed disc on MRI were more frequently found in chronic than in acute patients.</p><p><b>CONCLUSIONS</b>In acute patients there is a great likelihood that tissues are healthy and not morphologically changed, we suggest that early and efficacious intervention should be made to reposition the anterior displaced disc that may block the progress of pathological impairment to both the disc and the condyle of TMJ.</p>