A dominantly inherited malformation syndrome with short stature,upper limb anomaly,minor craniofacial anomalies,and absence of TBX5 mutations: Report of a Thai family

We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc.     

Intramuscular hypoperfusion, adrenergic receptors, and chronic muscle pain.

Despite a high prevalence of chronic muscle pain disorders such as fibromyalgia and regional myofascial pain, there is still limited knowledge about the factors that initiate and perpetuate these pain states. Although there are also likely to be downstream neuropathic changes in the central nervous system and spinal cord that sustain and exacerbate the pain states known as fibromyalgia, the focus of this critical review is on studies that examined the connection between both fibromyalgia and regional myofascial pain and sympathetic function. Specifically, we looked at studies that described Raynaud-like symptoms, cardiovascular dysfunction and altered intramuscular perfusion in chronic muscle pain. Our analysis showed that although the first 2 phenomena were intermittently present, a prominent and consistent feature for regional myofascial pain and to a lesser degree for fibromyalgia was intramuscular hypoperfusion. Several hypotheses can be offered why this hypoperfusion exists, and additional studies comparing and contrasting these theories are needed. This review focuses on one of these theories, namely, agonist-induced beta-adrenergic receptor desensitization as an explanatory model for hypoperfusion. What cannot be done at this time and is needed in the future is to compare and contrast to what degree the regional muscle pain disorder (myofascial) is similar or different from the more generalized disorder (fibromyalgia).     

Clinical study of estramustine phosphate disodium (Estracyt) on prostatic cancer--results of long-term therapy for 38 patients with prostatic cancer

Estramustine phosphate disodium (Estracyt) was used in the treatment of 38 patients with prostatic carcinoma for at least 1 year. Of these patients 37 patients were treated with Estracyt as primary treatment and 1 patient had been treated with another antiandrogenic therapy before the Estracyt treatment. Estracyt was given orally in a dose of 560 mg/day in divided oral doses. The clinical evaluation was done for the change of PAP, the relapse rate, the survival rate and the side effect. Among 22 cases which had shown abnormally high PAP values before the treatment started, the values decreased or normalized in 21 cases (95.5%) in the first year of administration of Estracyt. In 6 cases, however, the values increased again in the second year or later. Relapse was observed in 10 (26.3%) out of 38 cases. Relapse rate was 2.6%, 51.7%, and 51.7%, at the first, third, and fifth year, respectively. Survival rate was 97.4% at the first year, 88.5% at the third year, and 68.8% at the fifth year for the follow-up study. Side effects were observed in 14 (36.8%) out of 38 cases. The main side effect was gynecomastia. Gastro-intestinal disturbance and edema were also observed. However, there were only 2 cases (5.2%) in which administration of Estracyt had to be discontinued.     

Intra-operative administration of neocarzinostatin into the duodenal subserosa and levels found in the regional lymph nodes in pancreato-duodenal cancer

As an intraoperative chemotherapy treatment for the regional lymph nodes in resectable cases of pancreatoduodenal cancer, Neocarzinostatin (NCS) was administered in the duodenal subserosa and the NCS concentration was measured in the resected lymph nodes. Experiments: NCS 4,000 units (n = 4), or 10,000 units (n = 4) was administered into the duodenal subserosa of mongrel dogs, and 2 hours after administration, the lymph nodes of the mesentery root were resected. The NCS concentration in the lymph nodes was 0.21 U/g in the 4,000-U group and 1.39 U/g in the 10,000-U group. Clinical findings: NCS 10,000 U was administered into the duodenal subserosa in 6 cases of pancreatoduodenal cancer. The total number of resected lymph nodes was 49 and the mean NCS concentration was 5.65 U/g. According to site, the highest concentration was measured in lymph nodes from the anterior and posterior region of the pancreas head, which were near to the administration site. Also, NCS was well distributed in the lymph nodes in the hepatoduodenal ligament and mesentery root which lay in the direction of lymph flow. NCS concentration was high in lymph nodes resected 1 hour after administration. According to experimental reports of in vitro studies, an NCS concentration of more than 0.5 U/g is required to obtain an anticancer effect. This method is therefore considered to be useful as a form of intraoperative chemotherapy for the regional lymph nodes in pancreatoduodenal cancer.     

Clonorchiasis complicated with duodenal papillary cancer in a visitor from China]

It is well known that long-term infection with Clonorchis sinensis often causes bile duct cancer, usually. It occurs in the intrahepatic bile duct. We encountered a rare case of clonorchiasis complicated with duodenal papillary cancer. The patient was a woman from China. Although clonorchiasis is rarely found in Japan, the promotion of international exchange may increase the number of visitors from endemic areas. Thus we must pay sufficient attention to this disease. Also, we reported that the microplate ELISA technique was useful in the diagnosis of clonorchiasis with high accuracy in this case.     

Aortic root remodeling for root aneurysm with a uni-commissural aortic valve: report of a case.

A 23-year-old man was admitted for an aortic root aneurysm with mild aortic valve regurgitation (AR) and a small pressure gradient. At surgery, findings of aortic valve, one normal left posterior commissure and very rudimentary right anterior commissure, was compatible with the uni-commisural aortic valve. Aortic root replacement with valve-sparing technique was performed. Four years later no residual AR was observed.     

Transrectal hyperthermia for benign prostatic hyperplasia]

Transrectal hyperthermia was performed on 30 patients with benign prostatic hyperplasia twice a week for a total of ten times with the temperature of the prostatic tissue set at 43.0 degrees C. In our in vitro experiment using an agar phantom, the highest temperature was observed at approx. 1.5 cm from the point where the 915-MHz microwave was generated. Our histopathological study of the prostatic tissue, resected at open surgery after three days of hyperthermia, indicated that the effect of hyperthermia first occurred in the interstitial tissues, and then extended to the epithelial cells. Subjective symptoms and objective findings were evaluated. In almost all cases, improvement was observed in subjective symptoms after completion of the treatment. The residual urine volume improved significantly. Also, significant improvement was observed in our urodynamics study. In 16 out of 30 cases (53%), both subjective symptoms and objective findings were still improved after six months.     

Successful Repair of the Right Atrial Isomerism, Double Outlet Right Ventricle, Cornmon Atrioventricular Canal, Pulmonary Stenosis, and Total Anomalous Pulmonary Venous Connection

A 6-year-old boy was successfully operated on for double outlet ventricle, common atrioventricular canal with severe valvular regurgitation, right atrial Isomerism, L-loop ventricles, total anomalous pulmonary venous connection, and pulmonary stenosis with hypoplastic left pulmonary artery. The Interventricular rerouting from the left ventricle to the ascending aorta was performed with a spiral patch, the lnteratrlal switching was performed by a Mustard patch, the common atrioventricular orifice was partitioned and valve repair was performed, and an 18-mm valved conduit was inserted between the right ventricle and the pulmonary artery. Although the patient had a small residual ventricular septal defect and pulmonary stenosls, the patient Is alive and well.