Coffin-Siris syndrome: A case of an extremely low birthweight infant with severe kyphoscoliosis

A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.     

Relationship of angiographic finding with neovascular structure detected by immunohistochemical staining of α-smooth muscle actin in small hepatocellular carcinoma

To elucidate the relationship between angiographic features and histological findings, an immunohistological study of α-smooth muscle actin was performed in 106 patients with small hepatocellular carcinoma. Arterial dominance or portal blood paucity were found in 73 patients (68.9%) on digital subtraction angiography, 88 (83.0%) on computerized tomographic arterial portography and 87 (82.1%) on carbon dioxide-enhanced ultrasonography. Among 73 patients with hypervascularity on angiography, 57 (78.1%) had thick-walled, nuclei-rich and slender-shaped vessels (type II), eight (11, 0%) had thin-walled, nuclei-poor and oval-shaped vessels (type I) and the remaining eight had a mixed type of II and I. Conversely, among 33 patients without hypervascularity, five (15.2%) had a type II, 21 (63.6%) had a type I, five had a mixed type and two had no positive vessel. Tumour size, histological classification and amount of non-triadal vessels were also associated with the angiographic appearance of the tumours. Among varied aspects of the cancer including tumour size, tumour multiplicity, microscopic portal invasion, histological classification, amount of α-smooth muscle actin-positive vessels and shape of α-smooth muscle actin-positive vessels, multivariate logistic regression analysis demonstrated that the shape of α-smooth muscle actin-positive vessels was solely associated with angiographic hypervascularity independently (P < 0.0001). Although the existence of non-triadal vessels characterized hepatocellular carcinoma, angiographic hypervascularity was closely associated with the type II vessel. A morphological change of non-triadal vessel from type I to type II was considered to occur in an early stage of hepatocellular carcinoma.     

CD34 expression in endothelial cells of small hepatocellular carcinoma: Its correlation with tumour progression and angiographic findings

The angiogenic process plays an important role in tumour growth and metastasis during hepatocarcinogenesis, but it is still uncertain when the process begins during tumour formation. Forty-two small hepatocellular carcinomas (HCC) that measured either less than or equal to 2 cm in diameter were studied by comparing the histologic findings with the angiographic findings, and with immunohistochemical expression of endothelial marker QB-end/10 (QB), a new monoclonal antibody raised against CD34, in the sinusoidal wall. Twenty (91%) of 22 moderately or poorly differentiated HCC revealed a positive reaction for QB, while only eight (40%) of 20 well differentiated HCC demonstrated a positive reaction (P < 0.01). In the tumours showing a ‘nodule in nodule’ appearance, the less differentiated areas were more reactive for QB. Twenty-three (82%) of 28 QB positive tumours were hypervascular, while only three of 14 (21%) QB negative tumours were hypervascular (P < 0.01) by angiography. All six of the poorly differentiated and 13 (81%) of the 16 moderately differentiated tumours were hypervascular, while only seven (35%) of 20 well differentiated HCC were hypervascular (P < 0.01). These results indicate that as the tumour becomes less differentiated, the QB positive areas become wider and angiography demonstrates hypervascularity. We therefore speculate that the HCC sinusoids acquire the characteristics of capillary and precapillary blood vessels during de-differentiation from well to moderate, and thus the tumour begins to reveal hypervascularity on angiography. The above process may be correlated with the stepwise progression of HCC.     

Correlation between Dose and Tumor Response in the Radiotherapy of Lung Cancer of Various Histological Types

Correlation between dose and tumor response by cell types wasdetermined in 50 patients with lung cancer in order to predictthe possibility of further tumor regression. The TDF (time-dose-fractionation)concept was used as dose factor. The radiation source was a cobalt-60 -ray or linear accelerator10 MV X-ray. As a routine regime a fraction dose of 2 Gy fivetimes per week was given to 39 of the 50 patients, but a doseof 2 Gy three times per week or of 1.5 Gy five times per weekwas given to seven and four patients, respectively. Radiation response was the best in small cell carcinoma andbetter in adenocarcinoma than in squamous cell carcinoma, showinga tumor regression rate of 50% or more in 90%, 80% and 58% ofthe patients, respectively. The correlation between tumor regression rate and TDF valueswas good in squamous cell carcinoma (r=0.73) and small cellcarcinoma (r=- 0.72), but poor in adenocarcinoma (r=- 0.10).These results suggest that in squamous cell carcinoma improvementof tumor regression can be expected by increasing TDF values,and in adenocarcinoma and small cell carcinoma the optimal TDFvalues are about J00 and 60 to 80, respectively.     

Bizarre Leiomyoblastoma of the Stomach: --A Case Report and Review of 40 Cases in the Japanese Literature--

A 42-year-old woman with leiomyoblastoma of the stomach is described.She is living well for more than five years following operation.The clinical findings of 40 Japanese patients with leiomyoblastomawere also reviewed. In this series, the tumor was essentiallyseen in adults. The average age of the patients was 53, andthe sex ratio was equal. The most important and valuable diagnosticaid was roentogenography. The tumors are usually found in theantrum, but rarely in the cardia. Endoscopically, a polypoidmass, which is frequently umbilicated or ulcerated, can be visualized.The size of tumor varies from 1.2 cm to 11 cm in diameter andthe growth usually occurs singly. No metastatic case was found,but four had concomitant gastric cancer and two had gastricleiomyoma among the 40 Japanese cases.     

Comparison of Survival of Patients With Lung Cancer Between Elderly (greater double equals70) and Younger (70>) Age Groups

Results of radiotherapy for lung cancer in the elderly werecompared with those in younger patients. A total of 129 patientswere treated by radiation therapy with or without chemotherapy.Fifty-six patients (43.4%) were 70 years old or more (elderlygroup) at the time of treatment, and the remaining 73 patientswere below age 70 (younger group). Treatment results in the elderly group were nearly the sameas those in the younger group in all stages of the disease.Survival time was longer for patients with performance status(PS) of 0 to 2 than for those with PS 3 or 4 regardless of age(p < 0.05). The survival time of the elderly group was nearlythe same as that of the younger group for squamous cell carcinoma,but somewhat shorter for adenocarcinoma although the differencewas not statistically significant. There was no difference insurvival between the two groups when they were treated by combinedradiation therapy and chemotherapy. Our results suggest thatelderly patients can be treated as safely as younger patientsby radiotherapy alone or combined radiation therapy and chemotherapy.     

Immunohistochemistry of collagen types II and X, and enzyme-histochemistry of alkaline phosphatase in the developing condylar cartilage of the fetal mouse mandible

We investigated the immunohistochemical localisation of types II and X collagen as well as the cytochemical localisation of alkaline phosphatase in the developing condylar cartilage of the fetal mouse mandible on d 14–16 of pregnancy. On d 14 of pregnancy, although no immunostaining for types II and X collagen was observed, alkaline phosphatase activity was detected in all cells in the anlage of the future condylar process. On d 15 of pregnancy, immunostaining for both collagen types was simultaneously detected in the primarily formed condylar cartilage. Alkaline phosphatase activity was also detected in chondrocytes at this stage. By d 16 of pregnancy, the hypertrophic cell zone rapidly increased in size. These findings strongly support a periosteal origin for the condylar cartilage of the fetal mouse mandible, and show that progenitor cells for condylar cartilage rapidly or directly differentiate into hypertrophic chondrocytes.     

Ageing reduces sympatho-suppressive response to head-out water immersion in humans

Muscle sympathetic nerve activity (MSNA) is suppressed during thermoneutral head-out water immersion (HOI) in humans. In this study, the effects of ageing on the suppressive response of MSNA to HOI were determined. MSNA was recorded microneurographically from the tibial nerve in 16 healthy men, 10 of whom were aged 19–30 years (young group) and six aged 45–67 years (older group). MSNA was suppressed in all the subjects during HOI. The suppressive response was significantly less prominent in the older group than in the young group. A significant negative correlation between age and the suppressive response of MSNA induced by HOI (r=-0.53, P<0.05) was found. We conclude that suppressive response of sympathetic nerve activity to HOI is reduced with age.