Chest dynamics asymmetry facilitates earlier detection of pneumothorax.

Pneumothorax is usually diagnosed when signs of life-threatening tension pneumothorax develop. The case report describes novel data derived from miniature superficial sensors that continuously monitored the amplitude and symmetry of the chest wall tidal displacement (TDi) in a premature infant that suffered from pneumothorax. Off-line analysis of the TDi revealed slowly progressing asymmetric ventilation that could be detected 38 min before the diagnosis was made. The TDi provides novel and valuable information that can assist in early detection and decision making.

How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents' experience.

Predictive genetic testing for familial adenomatous polyposis (FAP) is routinely offered to children at-risk from the age of 10 years onwards. Predictive testing for FAP at a younger age is debatable, because of absence of medical benefits. However, circumstances may arise when testing at a younger age (<10 years) is appropriate. Currently, there is a lack of published experience with predictive testing of children at this young age. We evaluated 13 children who were tested for FAP at the age younger than 10 years; 7 mutation-carriers and 6 non-carriers. Parents of these children were re-contacted and open-ended semi-structured interviewed. None of the contacted parents regretted the timing of genetic testing. The major reasons for testing at the young age were (1) testing of all children in the family at the same moment; (2) certainty for the future; and (3) preparing the child for future surveillance. None of the parents observed changes in mental or physical health in their child after testing. Also, young genetic testing did not lead to colon surveillance before it was indicated. Genetic testing for FAP at a young age is experienced as causing no harm by parents. Future studies should evaluate children's own experiences with early genetic testing.

Nonimmune hydrops fetalis caused by G6PD deficiency hemolytic crisis and congenital dyserythropoietic anemia.

We present a case of a female neonate who had a nonimmune hydrops fetalis and severe hemolytic anemia due to a rare combination of glucose-6-phosphate dehydrogenase (G6PD) deficiency and congenital dyserythropoietic anemia. We conclude that in severe cases with persistent anemia one should search after delivery for a second reason other than G6PD deficiency alone.

Evaluating the clinical utility of stereoscopic clinical photography.

Stereoscopic imaging during clinical evaluation can provide utility to physicians and medical educators by extending clinical photography with the provision of depth. A digital SLR camera body fitted with a stereoscopic lens and an autostereoscopic display are evaluated. This paper describes the image acquisition workflow and post-processing methods required to incorporate stereoscopic images into an electronic medical record for physician review.

Long-term follow-up of retrograde colonic irrigation for defaecation disturbances.

OBJECTIVE: Irrigation of the distal part of the large bowel is a nonsurgical alternative for patients with defaecation disturbances. In our institution, all patients with defaecation disturbances, not responding to medical treatment and biofeedback therapy, were offered retrograde colonic irrigation (RCI). This study is aimed at evaluating the long-term feasibility and outcome of RCI. METHODS: Between 1989 and 2001, a consecutive series of 267 patients was offered RCI. All patients received instructions about RCI by one of our enterostomal therapists. Twenty-eight patients were lost to follow-up. A detailed questionnaire was sent by mail to 239 patients. The total response rate was 79% (190 patients). Based on the returned questionnaires it became clear that 21 (11%) patients never started RCI. The long-term feasibility and outcome of RCI was therefore assessed in the remaining group of 169 patients. Thirty-two patients were admitted with soiling, 71 patients with faecal incontinence, 37 patients with obstructed defaecation and 29 had defaecation disturbances after low anterior resection or pouch surgery. RESULTS: According to the returned questionnaires, RCI was considered effective by 91 (54%) patients. Among patients with soiling and faecal incontinence, RCI was found to be effective in, respectively, 47 and 41% of the subjects. Despite of the reported effectiveness, 10 (67%) patients with soiling and 5 (17%) patients with faecal incontinence decided to stop. Among patients with obstructed defaecation and those with defaecation disturbances after low anterior resection or pouch surgery the effectiveness of RCI was found to be 65 and 79%, respectively. None of these patients ceased their therapy. The overall success-rate of long-term RCI was therefore 45%. CONCLUSIONS: Long-term RCI is beneficial for 45% of patients with defaecation disturbances. In the group of patients who considered RCI effective and beneficial, discontinuation of therapy was only observed among those with soiling and faecal incontinence.

Potato tuber proteins efficiently inhibit human faecal proteolytic activity: implications for treatment of peri-anal dermatitis.

BACKGROUND: Frequent diarrhoea after intestinal resections and faecal incontinence in healthy infants may lead to perianal injury. A causative agent may be a high concentration of pancreatic proteases in faeces. The aim of the present study was to assess whether protease inhibitors are applicable for treating and preventing peri-anal dermatitis by inhibiting the initial cause of the inflammation, the faecal proteases. DESIGN: Proteolytic activity was estimated in faeces of subjects frequently suffering from peri-anal dermatitis: patients with intestinal resections and healthy infants. The development of perianal dermatitis was studied after the construction of a reservoir with ileoanal anastomosis. The inhibitory effect of crude and partly purified potato juice on proteolytic activity of faecal output from patients with intestinal resections and healthy infants was investigated in vitro and in vivo (skin tests). RESULTS: Faecal protease activity in faeces from patients with intestinal resections and healthy infants was found to be significantly higher than in healthy adults. After the construction of an ileum reservoir, 46 of 48 patients developed a protease-related peri-anal dermatitis. The partly purified protein fraction from potatoes inhibited the larger part of faecal proteases in vitro and completely prevented skin irritation by pancreatic proteases dissolved in sterilized faecal fluid, in a 24-h skin test, on the back of healthy human volunteers. CONCLUSIONS: Potato proteins contain protease inhibitors, which suppress almost the complete proteolytic activity in faeces. Topical application of potato protease inhibitors might be a novel approach in preventing protease-induced peri-anal dermatitis, and therapeutic studies are needed to confirm our results.

Congenital hypothyroidism and nonimmune hydrops fetalis: associated?

Hydrops fetalis (HF) consists of an abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Almost all observed cases of HF are of the nonimmune type, the causes of which remain undetermined in 15% of patients. We report a newborn infant with nonimmune hydrops fetalis (NIHF) and congenital hypothyroidism. The infant's mother was healthy and there were no malformations of the placenta or umbilical cord. The infant did not show any structural abnormalities of his central nervous, cardiovascular, gastrointestinal, or urinary tract systems, and there was no evidence of anemia, infectious disease, or inborn error of metabolism. An immune-based process was unlikely, because the blood group of the mother and infant was A-positive and results of an indirect Coombs test in the mother and a direct Coombs test in the infant were negative. The patient's condition gradually improved with mechanical ventilation, repeated thoracocentesis, and total parenteral nutrition. By day 5 of age the skin edema, pericardial effusion, and ascites disappeared, but accumulation of significant amounts of chylous pleural fluid persisted. Because of lethargy, FT4 and thyroid-stimulating hormone levels were obtained and showed hypothyroidism. Thyroid hormone supplementation was then started, and within 4 days the infant became more vigorous and was weaned from mechanical ventilation. After 7 days, the chylothorax resolved completely as the serum thyroxine level normalized. No reaccumulation of pleural effusion was noticed. The infant started to gain weight and was discharged from the hospital at 35 days of age. A possible pathophysiologic association between congenital hypothyroidism and NIHF is discussed. NIHF may be caused by lymphatic congestion attributable to an impairment of lymphatic flow and a delayed return of lymph to the vascular compartment. There could be a possibility that because of thyroid hormone deficiency in this patient, there was reduced adrenergic stimulation of the lymphatic system. This could result in a sluggish flow of the lymph with engorgement of the lymphatic system, leakage of lymph into the pleura and the interstitial spaces, and the production of chylothorax with NIHF. Animal studies demonstrate a direct relationship between lymph flow rate or lung liquid clearance and adrenergic receptor activity in the lymphatic system. These observations support our hypothesis that deficient adrenergic activity in congenital hypothyroidism might lead to chylothorax with NIHF in the fetus. We speculate that thyroid hormone may play a role in the regulation of adrenergic receptors in the lymphatic system and lungs, thus modulating both the lymphatic flow rate and lung liquid clearance, and facilitating the resolution of chylothorax. Examination of thyroid functions should be included in the investigation of fetuses and neonates with NIHF of an obscure origin.

Clinical value of colonic irrigation in patients with continence disturbances.

UNLABELLED: Continence disturbances, especially fecal soiling, are difficult to treat. Irrigation of the distal part of the large bowel might be considered as a nonsurgical alternative for patients with impaired continence. PURPOSE: This study is aimed at evaluating the clinical value of colonic irrigation. METHODS: Thirty-two patients (16 females; median age, 47 (range, 23-72) years) were offered colonic irrigation on an ambulatory basis. Sixteen patients suffered from fecal soiling (Group I), whereas the other 16 patients were treated for fecal incontinence (Group II). Patients were instructed by enterostomal therapists how to use a conventional colostomy irrigation set to obtain sufficient irrigation of the distal part of their large bowel. Patients with continence disturbances during the daytime were instructed to introduce 500 to 1,000 ml of warm (38 degrees C) water within 5 to 10 minutes after they passed their first stool. In addition, they were advised to wait until the urge to defecate was felt. Patients with soiling during overnight sleep were advised to irrigate during the evening. To determine clinical outcome, a detailed questionnaire was used. RESULTS: Median duration of follow-up was 18 months. Ten patients discontinued irrigation within the first month of treatment. Symptoms resolved completely in two patients. They believed that there was no need to continue treatment any longer. Irrigation had no effect in two patients. Despite the fact that symptoms resolved, six patients discontinued treatment because they experienced pain (n = 2) or they considered the irrigation to be too time-consuming (n = 4). Twenty-two patients are still performing irrigations. Most patients irrigated the colon in the morning after the first stool was passed. Time needed for washout varied between 10 and 90 minutes. Frequency of irrigations varied from two times per day to two times per week. In Group I, irrigation was found to be beneficial in 92 percent of patients, whereas 60 percent of patients in Group II considered the treatment as a major improvement to the quality of their lives. If patients who discontinued treatment because of washout-related problems are included in the assessment of final outcome, the success rate is 79 and 38 percent respectively. CONCLUSIONS: Patients with fecal soiling benefit more from colonic irrigation than patients with incontinence for liquid or solid stools. If creation of a stoma is considered, especially in patients with intractable and disabling soiling, it might be worthwhile to treat these patients first by colonic irrigation.

Stress hyperglycemia and the risk for the development of type 1 diabetes.

Transient hyperglycemia during acute illness may represent the earliest clinical sign of impaired beta cell function. This study sought to characterize the clinical presentation of patients with stress hyperglycemia and to determine the prevalence of immunologic and endocrinologic markers associated with prediabetes. Thirty-six children were studied. They were referred to us for routine evaluation after an episode of hyperglycemia during severe intercurrent illness. Immunologic markers (insulin autoantibodies and islet cell autoantibodies) and intravenous glucose tolerance test for evaluation of first phase insulin secretion rate were performed in all participants. Islet cell autoantibodies were negative in all patients. In eight patients, the first phase insulin response was below the first percentile (46 microU/ml) at the first determination. Insulin autoantibodies were positive in another three children (> 60 nU/ml). Twelve to sixteen months later, all children were re-evaluated and all had normal results. None of the patients developed diabetes during the study (mean 3.2 years). Our data support the idea that episodes of hyperglycemia during severe illness without additional risk factors are a minimal risk factor, if any, for future development of IDDM.

Intraduct carcinoma of the breast (duct carcinoma in situ).

A retrospective study of non-invasive ductal carcinoma in situ in a series of women is presented. The epidemiology, clinical characteristics and results in 65 patients treated by mastectomy or breast-conserving surgery, with or without radiation therapy, are reported. The significant recurrence rate and high proportion of invasive cancers among patients with recurrences are noted. Recurrences were more frequent in patients with larger tumours and those with comedo-type intraduct carcinomas. Implications and guidelines for therapy are presented.

Testicular seminoma: 20-year experience at the Northern Israel Oncology Center (1968-1988).

Eighty-four patients with testicular seminoma were treated at the Northern Israel Oncology Center during the years 1968-1988. Using the staging classification of Hussey, 69 patients (82%) had Stage I, eight (10%) had Stage IIA, four (5%) had Stage IIB, one (1%) had Stage IIIA, and two (2%) had Stage IIIB disease. Sixty-nine patients (82%) had classic pure seminoma, nine (11%) had anaplastic seminoma and six (7%) had spermatocytic seminoma. Seventy-four patients (88%) underwent high inguinal orchiectomy and ten (12%) had a scrotal approach. Seventy-five patients (85%) were treated with postoperative irradiation. Stage I patients received 26-30 Gy to the paraaortic and ipsilateral pelvic lymph nodes. Stage IIA patients were treated in the same manner with a boost to the involved lymph nodes. With a mean follow-up of 97 months, 65 patients (77%) are alive and well with no evidence of disease, 7 patients (8%) are dead due to disease progression. The 5-, 10-, 15-, and 20-year actuarial survival for all patients was 90%, and for early stage patients 94%. Eight patients (14%) relapsed; 3 of them were salvaged by chemotherapy. Serious side effects of irradiation included lethal respiratory failure due to bleomycin-induced pulmonary fibrosis in one patient, peptic ulcer in three patients, hydronephrosis due to paraureteral fibrosis in one patient and recurrent paralytic ileus in one patient. Eight patients (10%) developed nine second cancers, three of them within the previous radiation field.(ABSTRACT TRUNCATED AT 250 WORDS)

Second primary cancer in irradiated stage I testicular seminoma.

The incidence of second primary cancer (SPC) was determined in 64 irradiated stage I testicular seminoma patients, treated and followed at the Northern Israel Oncology Center from 1968 to 1988. Seven (11%) patients developed a total of eight second cancers. The cumulative risk for developing second primary cancer at ten, 15 and 20 years following the diagnosis of seminoma was 2.5%, 5.1% and 8.9%, respectively. Two patients developed SPC within the radiation field (urinary bladder, sigmoid colon) and four patients outside the radiation field (bronchogenic cancer, thymoma, malignant melanoma, thyroid cancer). In two patients, who developed lung cancer and testicular seminoma, respectively, scatter dose from the main radiation field could not be excluded as one of the factors contributing to the SPC. Three patients died as a direct result of their SPC. It is concluded that there is a low, but significant risk of solid SPC among patients apparently cured of early stage seminoma. It will be important in future surveillance studies of stage I seminoma to assess the risk of SPC in the non-irradiated patients.

Melanocytic schwannoma of the spinal cord: a case report.

Melanocytic schwannoma of the spinal cord is a tumour composed of Schwann cells capable of producing intracellular melanin. We present a case report of a 25-year-old male with melanocytic schwannoma of the 5th lumbar spinal cord root; the patient is alive and well 48 months after neurosurgical removal of the tumour. A review of the literature revealed 14 similar cases. These tumours have a local recurrence rate of up to 14%, and have a metastatic potential.

Testicular seminoma stage I: treatment results and long-term follow-up (1968-1988).

Sixty-nine patients with stage I testicular seminoma were referred to the Northern Israel Oncology Center between 1968 and 1987. Sixty-four patients were irradiated postoperatively and five patients had surveillance alone. Complete follow-up was available for all patients, with a median follow-up of 86 months (range 9-239 months). The last follow-up was in December 1988. Actuarial survival was 94% to 5, 10, 15, and 20 years. Six patients relapsed following completion of irradiation. All the recurrences occurred outside the radiation field. Three of the relapsed patients could be salvaged with cisplatinum-based chemotherapy and are alive at 4, 7, and 10 years following second-line treatment. Acute or chronic side effects were mild and manageable. Seven patients developed second primary cancers, two within and six outside the radiation field. While surveillance policy alone in stage I testicular seminoma may be successful in terms of patient outcome, it requires prolonged observation, good compliance of patients, and intensive use of resources. Thus, until proved otherwise, infradiaphragmatic radiotherapy should further remain the optimal routine treatment in seminoma patients with stage I disease.

The value of estrogen and progesterone receptor determinations in advanced breast cancer. Estrogen receptor level but not progesterone receptor level correlates with response to tamoxifen.

Four hundred fifteen patients with metastatic breast cancer with known hormone receptor status received primary treatment with tamoxifen. Measured values for the estrogen receptor (ER, i.e., with estrogen binding) followed a continuous distribution (range, 3 to 1000 fmol/mg of protein). These values correlated positively with age. The response to treatment with tamoxifen correlated with the ER level, with response rates of approximately 80% when the ER level was greater than 30.1 fmol/mg of protein. Two hundred eighteen (218 of 415, 52%) patients had progesterone receptor (PR) values greater than 10 fmol/mg. The PR positivity correlated with the ER level. Patients with PR levels greater than 10 fmol/mg of protein (124 of 226, 55%) had a significantly higher response rate than those with values less than 10 fmol/mg of protein (45 of 189, 24%). However, in a multivariate analysis including both receptor levels, age, site, and number of metastases, only the ER level was significant in predicting the response to treatment with tamoxifen. A quantitative estimation of the ER level thus is the best predictor of response to hormonal treatment with tamoxifen for advanced breast cancer.