A case of ring 14 chromosome with ocular manifestations

BACKGROUND: Ring 14 chromosome has been reported to be associated with mental retardation, craniofacial dysmorphology, and epilepsy. Flecked and/or pigmented retina are also ocular manifestations of this disease. CASE: A 29-year-old female suffered from seizures and developmental and growth delay. Narrow palpebral fissura, broad flat nose, large auricula, high arched palate, and short neck were present. Chromosomal analysis disclosed her ring 14 chromosome (p 11.2 q 32.3). Ophthalmologically, cortical cataract, refractive error (right--3.00 D, left--1.50 D), and yellow-white flecks in the macula and yellow-white spots in the mid-peripheral retina in both eyes were present. CONCLUSIONS: To date, ophthalmic changes concomitant to a breakpoint at 14 q 32.2 have been reported. We report a case of ring 14 chromosome with breakpoint at 14 q 32.3 which showed yellow flecks in the macula and mid-peripheral retina.     

Comparison of Lp82- and m-calpain-mediated proteolysis during cataractogenesis in Shumiya cataract rat (SCR)

PURPOSE: It is well known that m-calpain, a ubiquitous calpain, is involved in cataract formation in rodent lens. Involvement of Lp82, a lens-specific calpain, in the cataract formation is also suggested. However, the exact relationship between Lp82-mediated proteolysis and lens opacification has not yet been established. We therefore compared Lp82- and m-calpain-mediated proteolyses of alphaA-crystallin during cataractogenesis to clarify whether Lp82 is involved in cataract formation. METHODS: In order to analyze the Lp82- and m-calpain-mediated proteolyses, we developed antibodies exclusively specific to the proteolytic products of alphaA-crystallin produced by Lp82 and m-calpain actions, respectively. The proteolytic profiles of alphaA-crystallin by Lp82 and m-calpain during cataractogenesis in SCR lenses were analyzed by Western blotting and immunohistochemical staining. RESULTS: While m-calpain-mediated proteolysis was detected predominantly in cataractous lenses, Lp82-mediated proteolysis was detected not only in cataractous but in normal lenses. The m-calpain-mediated proteolysis was observed in restricted areas developing and destined to develop opacification, i.e., the nuclear and perinuclear regions of lens. On the other hand, Lp82-mediated proteolysis was observed not only in the same regions but also in the cortical region where opacity does not develop. Unlike m-calpain-mediated proteolysis, Lp82-mediated proteolysis was not inhibited by the oral administration of aminoguanidine (AG), which acts to prevent lens opacification. CONCLUSIONS: From these results, it is shown that there is no direct contribution of Lp82-mediated proteolysis to cataract formation in SCR. Rather, Lp82 may function in fiber cell development and/or fiber cell remodeling during lens maturation under physiological conditions, since Lp82-mediated proteolysis occurs in the cortical region of normal lens.     

Sleep habits of students attending elementary schools,and junior and senior high schools in Akita prefecture

It is widely accepted that students in Japan sleep fewer hours than what they actually need. However, epidemiological data on sleep habits among students are scarce. The sleep habits and related problems among 1650 students in Akita prefecture were studied. The results revealed that schoolchildren attending elementary schools seemed to sleep for a sufficient number of hours, whereas students attending junior or senior high schools were not sleeping enough. In particular, approximately half of the students attending senior high schools answered that they slept 6 h or less on weekdays and nodded off during classes more than twice a week.     

An elderly patient with DCIS of the breast effectively treated with toremifene alone

An elderly patient with breast cancer received toremifene monotherapy for one year, and about 60% tumor remission rate was obtained. Since viability of the residual tumor was suspected on ultrasonography (US), computed tomography (CT), and magnetic resonance imaging (MRI), lumpectomy was performed under local anesthesia. The histopathological diagnosis was ductal carcinoma in situ (DCIS). The patient did not undergo axillary lymph node dissection or systemic chemotherapy. The patient is alive without disease under postoperative radiotherapy and toremifene treatment. Toremifene monotherapy and/or preoperative adjuvant therapy with toremifene alone may be useful methods for elderly patients with breast cancer considering the patients' quality of life.     

A case of large-cell lung cancer with liver metastasis successfully treated using combination chemotherapy with CDDP and vinorelbine

A 38-year-old woman presented to our hospital with the chief complaint of dyspnea. A chest radiograph showed pleural effusion of the right lung and a CT scan revealed liver metastasis. A tumor biopsy done under bronchoscopy revealed large-cell carcinoma of the lungs. She was given 4 courses of a combination therapy consisting of CDDP (80 mg/m2) and vinorelbine (25 mg/m2). The primary tumor in the right lung and liver metastasis were markedly reduced in size and a partial response was obtained. The combination therapy of CDDP and vinorelbine may become a standard chemotherapy for advanced non-small cell lung cancer.     

Reduction in standard MAC and MAC for intubation after clonidine premedication in children

We examined the relative effects of different doses of oralclonidine on the MAC for endotracheal intubation (MAC_EI) andthe MAC for skin incision (MAC) in children. We studied 90 children(15 in each group) (age range 2–8 yr, weight 10–27kg, height 89–124 cm) who received one of three preanaestheticmedications: placebo (control), oral clonidine 2 µg kg^–1,or oral clonidine 4 µg kg^–1 100 min before anaesthesia.Anaesthesia was induced and maintained with sevoflurane in oxygenand air without i.v. anesthetics and neuromuscular relaxants.The end-tidal sevoflurane concentration was kept constant for     

Pathology and prognosis of gastric carcinoma: well versus poorly differentiated type

BACKGROUND: The most important parameters predicting outcome of patients with gastric carcinoma are the depth of wall invasion and the status of lymph node metastasis, but the prognostic significance of histologic type is unclear. The aim of this study was to clarify the prognostic value of two major histologic types of gastric carcinoma, that is well and poorly differentiated types. METHODS: Histopathologic findings and outcomes of 504 patients with gastric carcinoma were evaluated by well and poorly differentiated types. Well differentiated gastric carcinoma (WGC) included papillary and tubular adenocarcinomas, poorly differentiated medullary carcinoma, and well differentiated mucinous carcinoma; whereas poorly differentiated gastric carcinoma (PGC) included poorly differentiated scirrhous carcinoma, signet ring cell carcinoma, and poorly differentiated mucinous carcinoma. RESULTS: Patients with WGC were characterized by old age, male predominance, tumor location in the lower third of the stomach, small tumor size, and liver metastasis; whereas patients with PGC were distinguished by their tumor location in the middle third of the stomach, serosal invasion, lymph node metastasis, advanced stage, and peritoneal dissemination. The overall 5-year survival rate for patients with WGC was higher than that for patients with PGC (76% vs. 67%; P = 0.058), especially for patients with >/= 10 cm tumors (42% vs. 14%; P = 0.017). The 5-year survival rate for patients with serosa positive but node negative tumors was higher in WGC patients than in PGC patients (83% vs. 59%; P = 0.086); whereas the 5-year survival rate for patients with serosa negative but node positive tumors was lower in WGC patients than in PGC patients (63% vs. 88%; P = 0.008). Multivariate analysis indicated that among pathologic variables of the tumor, histologic type (WGC vs. PGC) was one of the independent prognostic factors. CONCLUSIONS: Histologic type is important for estimating the tumor progression and outcomes of patients with gastric carcinoma. In addition to the depth of wall invasion and status of lymph node metastasis, histologic type, including well or poorly differentiated type, should be evaluated in the management of gastric cancer.     

Breast-conservation treatment for patients with ductal carcinoma in situ

Fourteen cases with symptomatic ductal carcinoma in situ (DCIS) were treated with breast-conservation treatment intensified with endocrine therapy. Nine of 14 patients with palpable mass had tumor detected on mammography. CT, ultrasonography, and MRI were able to detect linear and/or spotty lesion or enhancement suggesting DCIS. Whereas these findings were not particular to DCIS, the combination of these modalities would be useful in deciding the extent of resection for DCIS. There was no patient selection for breast-conservation treatment in our department. All patients received tangential and boost radiation, and were treated with endocrine therapy using anti-estrogen drugs. The reason that nine cases had close margins (<5 mm) might be on account of the treatment including lumpectomy with 1 cm of surgical margin. In spite of their margin status, no local or systemic failure was experienced, and the cosmetic results of most patients were rated as excellent or good. Therefore, our breast-conservation treatment intensified with systemic therapy is thought to be adequate for patients with symptomatic DCIS. Six of eight cases who received preoperative treatment containing endocrine therapy with or without CAF chemotherapy showed a decrease in tumor size. Preoperative treatment may effect the microinvasion and/or breast tissue surrounding a DCIS tumor.     

A case of amniotic band syndrome with bilateral epibulbar choristoma.

An autopsy case of amniotic band syndrome with bilateral epibulbar choristoma is described. The left eye reveals a complex choristoma and the right eye a dermis-like choristoma. Both choristomatous lesions included lenticular tissue suggesting that rupture of the amnion, which is the initial event of amniotic band syndrome, might have occurred at about the fourth week of gestation. Since the other systemic manifestations of amniotic band syndrome are considered to be compression deformities of the fetus caused by oligohydramnios or amniotic band, the occurrence of epibulbar choristomas in both eyes in this case suggests that a compression mechanism may play a role in the pathogenesis of epibulbar choristoma.