Familial infantile oesophageal achalasia.

Oesophageal achalasia is uncommon in children and in its familial form it is a rarity. The presentation and management of two male siblings who presented with oesophageal achalasia as infants are reported. A high degree of consanguinity in the parents of the children existed, suggesting autosomal recessive transmission.     

Human immunodeficiency virus-1 infection and multiple sclerosis-like illness in a child

We present a child with human immune deficiency virus-1 infection associated with a multiple sclerosis-like illness. This case is the first reported of human immune deficiency virus-1 infection and a disease indistinguishable from multiple sclerosis in a child. Because of the rarity of either disease in pediatric patients, their coexistence in a child argues in favor of a casual association between the two illnesses, thus reinforcing the long-held assumption that viral agents may trigger some of the immunologic abnormalities underlying multiple sclerosis. Cases in which such an association was present in adults are also described in this article.     

Prospective predictors of the onset of anorexic and bulimic syndromes

OBJECTIVE: This study investigated prospective predictors of lifetime history diagnoses of partial- and full-syndrome anorexia nervosa and bulimia nervosa (referred to as anorexic syndrome and bulimic syndrome.) METHOD: Participants were 157 females who were studied initially in the 7th-10th grades (ages 12-16) and followed-up 2 and 8 years later in middle adolescence (ages 14-18) and young adulthood (ages 20-24), respectively. A telephone interview to determine lifetime history of anorexic and bulimic syndromes was conducted in young adulthood. RESULTS: In multivariate analyses controlling for initial eating symptoms, initial perfectionism and low body weight predicted young adult onset of anorexic syndrome, and initial negative emotion predicted young adult onset of bulimic syndrome. DISCUSSION: Our findings suggest that adolescent girls who are initially thin and also adhere to perfectionistic standards may be at risk for developing anorexic syndrome. For bulimia, negative affect may contribute to the development of the binge-purge cycle.     

Results of radiotherapy for primary subglottic squamous cell carcinoma

: To retrospectively evaluate the outcome after radical radiotherapy (RT) and surgical salvage and assess the risk of late toxicity for patients with primary subglottic squamous cell carcinoma treated at our center.

: Between 1971 and 1996, 43 patients with primary squamous cell carcinoma of the subglottis (35 men, 8 women) were treated with radical RT. All received megavoltage irradiation, most commonly to a dose of 50–52 Gy in 20 fractions during 4 weeks (39 patients). The median follow-up was 4.2 years.

: Local control was achieved with RT alone in 24 (56%) of the 43 patients: 7 of 11 with T1, 8 of 12 with T2, 4 of 8 with T3, and 5 of 12 with T4. The 5-year actuarial local relapse-free rate was 52%. Subsequent local control was achieved in 11 of the 13 patients with failed RT and attempted surgical salvage, for an ultimate local control rate of 81.4% (35 of 43). The 5-year overall and cause-specific actuarial survival rate was 50.3% and 66.9%, respectively. No patients developed Grade 3 or 4 late radiation morbidity.

: These data support the use of primary RT in the treatment of patients with primary squamous cell carcinoma of the subglottis as an appropriate treatment approach providing an option for laryngeal conservation.     

The bottom line: Outcomes after conservation treatment in anal cancer

At the Department of Radiation Oncology, Westmead Hospital, between 1980 and 2000, 60 patients with squamous cell carcinoma of anal canal or margin (including 15 with Stage IIIA or IIIB) were treated radically; 55 received chemoradiation (89% were prescribed mitomycin C and 5‐fluorouracil). Five‐year overall survival was 64% (95% confidence interval (CI): 48–79%), with a median survival of 9.75 years (median follow up 5.6 years, range 5 months to 22.5 years). Ten patients have died of disease. At 2 years the local control rate was 86%, and colostomy‐free survival was 83%. Relapse after 2 years was uncommon. Tumour size was the main factor driving outcomes, especially survival. Patients with larger tumours (T > 4 cm) had a hazard ratio for survival of 5.7 (95% CI: 1.8–17). Fourteen (24%) patients experienced treatment interruptions as a result of acute toxicity, including one death from neutropoenic sepsis. Seven (12%) patients, in total, experienced one or more late toxicities, grade 3 or above, including four women (all postmenopausal) who developed a radiation‐induced bone injury. Most patients with anal cancer can expect to retain a functional sphincter after chemoradiation/radiation. Further studies are in progress to determine the optimal chemoradiation protocol.     

Wound healing morbidity in STS patients treated with preoperative radiotherapy in relation to in vitro skin fibroblast radiosensitivity, proliferative capacity and TGF-beta activity.

BACKGROUND AND PURPOSE: In a recent study, we demonstrated that the ability of dermal fibroblasts, obtained from soft tissue sarcoma (STS) patients, to undergo initial division in vitro following radiation exposure correlated with the development of wound healing morbidity in the patients following their treatment with preoperative radiotherapy. Transforming growth factor beta (TGF-beta) is thought to play an important role in fibroblast proliferation and radiosensitivity both of which may impact on wound healing. Thus, in this study we examined the interrelationship between TGF-beta activity, radiosensitivity and proliferation of cultured fibroblasts and the wound healing response of STS patients after preoperative radiotherapy to provide a validation cohort for our previous study and to investigate mechanisms. PATIENTS AND METHODS: Skin fibroblasts were established from skin biopsies of 46 STS patients. The treatment group consisted of 28 patients who received preoperative radiotherapy. Eighteen patients constituted a control group who were either irradiated postoperatively or did not receive radiation treatment. Fibroblast cultures were subjected to the colony forming and cytokinesis-blocked binucleation assays (low dose rate: approximately 0.02 Gy/min) and TGF-beta assays (high dose-rate: approximately 1.06 Gy/min) following gamma-irradiation. Fibroblast radiosensitivity and initial proliferative ability were represented by the surviving fraction at 2.4 Gy (SF(2.4)) and binucleation index (BNI), respectively. Active and total TGF-beta levels in fibroblast cultures were determined using a biological assay. Wound healing complication (WHC), defined as the requirement for further surgery or prolonged deep wound packing, was the clinical endpoint examined. RESULTS: Of the 28 patients treated with preoperative radiotherapy, 8 (29%) had wound healing difficulties. Fibroblasts from patients who developed WHC showed a trend to retain a significantly higher initial proliferative ability after irradiation compared with those from individuals in the treatment group with normal wound healing, consistent with the results of our previous study. No link was observed between fibroblast radiosensitivity and WHC. Neither active nor total TGF-beta levels in cultures were significantly affected by irradiation. Fibroblast proliferation in unirradiated and irradiated cultures, as well as radiosensitivity, was not influenced by TGF-beta content. TGF-beta expression in fibroblast cultures did not reflect wound healing morbidity. CONCLUSIONS: These data are consistent with our previous study and combined the results suggest that in vitro fibroblast proliferation after irradiation may be a useful predictor of wound healing morbidity in STS patients treated with preoperative radiotherapy. TGF-beta levels in culture do not predict WHC, suggesting that the role of TGF-beta in wound healing is likely controlled by other in vivo factors.     

Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature

We describe an unusual infant with the diagnosis of alveolar capillary dysplasia who had a relatively prolonged life without extracorporeal membrane oxygenation (ECMO). We have used this case as a springboard for a thorough review of the literature. This was a full-term female infant who presented with a picture of persistent pulmonary hypertension of the newborn. She was treated as such, with various ventilatory modes, alkalinizing agents, surfactant therapy, tolazoline, prostacyclin and nitric oxide. Because of the prolonged clinical course the possibility of alveolar capillary dysplasia was raised. The parents refused ECMO. Despite all efforts she progressively deteriorated and died at 22 days of age. Macro- and microscopic examination of the lung at autopsy were diagnostic of alveolar capillary dysplasia. A detailed review of 39 cases published in the literature with comments regarding incidence, etiology, pathophysiology, clinical picture, diagnosis and treatment is presented.     

Investigation and outcome of neonatal hepatitis in infants with hypopituitarism

Congenital hypopituitarism is a recognized cause of neonatal hepatitis, but the diagnosis may be difficult to establish even if clinically suspected. In order to determine the natural history of this disorder, the outcome of 12 infants with neonatal hepatitis secondary to hypopituitarism is reviewed. The clinical diagnosis of hypopituitarism was established on a combination of features, which include dysmorphism (4 infants), optic nerve hypoplasia (8 infants), micropenis (5 male infants) and recurrent hypoglycaemia (blood glucose < 2.4 mmol/l (8 infants)). Endocrine investigation revealed low free thyroxine (T4) levels (< 10 pmol/l), with normal thyroid stimulating hormone (TSH) levels (0.4-4.5 mU/l) (11 infants), and serum cortisol levels which were inappropriately low (< 200 nmol/l). In 9 of 12 infants, liver disease resolved within 6 wk following treatment with thyroxine, hydrocortisone and, where appropriate, growth hormone, including Cases 9 and 1 in whom diagnosis and treatment were delayed until 3 mo and 3 y of age, respectively. Liver disease resolved spontaneously in two infants prior to starting hormone replacement therapy (Cases 11, 12), and one male infant (Case 10), in whom the diagnosis and hormone replacement therapy were delayed until 5 y of age, developed cirrhosis and portal hypertension and later underwent liver transplantation. CONCLUSION: The diagnosis of hypopituitarism should always be considered in infants with unexplained neonatal hepatitis. Delay in diagnosis and appropriate treatment was associated with persistently abnormal liver function tests and may lead to irreversible liver disease.     

Tonsillectomy, adenoidectomy, and myringotomy in sickle cell disease: perioperative morbidity. Preoperative Transfusion in Sickle Cell Disease Study Group

PURPOSE: To compare the rates of perioperative morbidity of patients with sickle cell anemia who were randomly assigned to 2 preoperative transfusion regimens and to identify predisposing factors for perioperative complications. PATIENTS AND METHODS: Investigators at 36 centers enrolled 118 patients who were scheduled to have elective surgery and agreed to randomization between 2 preoperative transfusion regimens. Forty-seven subjects were enrolled but not randomized, including 20 who were not transfused before surgery. Perioperative management was based on a prescribed care plan. RESULTS: Tonsillectomy and/or adenoidectomy (TA) were performed on 136 persons, and 29 had myringotomy as their primary procedure. There were no differences in the frequency of complications between the randomized groups. The serious, non-transfusion complication rates for randomized patients were 32% (34 of 107) for TA and 36% (4 of 11) for myringotomy. A history of pulmonary disease was a predictor of postoperative sickle cell-related events for patients undergoing TA surgery. CONCLUSIONS: The more intensive transfusion regimen did not result in fewer perioperative complications. The high frequency of complications emphasizes the need for anticipatory management of persons undergoing TA. A history of pulmonary disease identifies patients at increased risk for sickle cell-related events after TA surgery. Patients undergoing myringotomy have a low frequency of sickle cell-related events but a significant frequency of other serious perioperative complications.