CHILD syndrome: A modified pathogenesis‐targeted therapeutic approach

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X‐linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase‐like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis‐targeted therapy have been developed. We subsequently chose to use the same pathogenesis‐based therapy using a 2% cholesterol and 2% lovastatin cream with or without glycolic acid in two of our patients. Improvement in CHILD skin lesions was seen as early as 4 weeks after initiation. The addition of glycolic acid helped improve the penetrance of the cholesterol and lovastatin cream into the thick waxy scales. Our study confirms the efficacy of the pathogenesis‐targeted therapy and introduces the possibility of modifying its formula by adding glycolic acid in order to improve the treatment.

     

Routine histopathological examination of appendectomy specimens in children: is there any rationale?

Objective

Primary carcinoma of the bowel is a rare malignancy in pediatric age group. The aim of the study was to assess the incidence of appendicular malignancies in children and the possibility of reducing the need for routine histopathological examination of appendix.

Materials and methods

In last 15?years, all the cases of appendectomies in children were analyzed. Retrospective analysis of the data was done to document the clinical presentation, diagnosis, outcome and histopathology reports of the specimen. The case files and operation notes were studied thoroughly in cases where HPR was positive for malignancy.

Results

From July 1995 to June 2010, 595 appendectomies were done in children. Three cases of carcinoid tumor were detected. All were less than 1?cm and were on the tip of the appendix. There was no preoperative or intraoperative suspicion.

Conclusion

Routine histopathological analysis did not help in the management of any of the cases. Therefore, selective utilization of the already burdened histopathology section of the hospital would be more cost effective without affecting the patient outcome.     

Methicillin-resistant Staphylococcus aureus infection with intermediate sensitivity to vancomycin: a case report and literature review

Staphylococcus aureus is a major cause of bacteremia and endocarditis in adults. Vancomycin is the standard therapy for methicillin-resistant Staphylococcus aureus (MRSA) bacteremia. Although clinical failure associated with the development of reduced susceptibility to vancomycin during the course of treatment for MRSA bacteremia has been reported infrequently, such an occurrence is very serious. We report a case of 43-year-old woman with of MRSA bacteremia, who relapsed after initial, apparently successful vancomycin treatment and developed left-sided endocarditis and vertebral osteomyelitis. Two weeks into her second admission, the vancomycin minimal inhibitory concentration rose from 相似文献   

Effects of clonidine on breathing during sleep and susceptibility to central apnoea

We hypothesized that administration of clonidine would decrease the hypocapnic apnoeic threshold (HAT) and widen the CO₂ reserve during non-REM sleep.     

Intracerebral haematomas after deep brain stimulation surgery in a patient with Tourette syndrome and low factor XIIIA activity

A 24-year-old male patient with refractory Tourette syndrome was treated with deep brain stimulation (DBS) and developed subsequent bilateral subcortical haematomas. Additional blood tests revealed abnormalities of plasma factor XIIIA and tryptophan levels, which may be associated with Tourette syndrome. Neurosurgeons who perform DBS surgery on patients with Tourette syndrome must be aware of possible disastrous complications resulting from factor XIIIA disorders of blood haemostasis. Routine screening for this condition is not typically performed prior to surgery in these patients.     

The direct cost of treating bronchial asthma in a teaching hospital in Malaysia

A pilot study to evaluate the direct cost of treating 51 adults and 50 children with bronchial asthma was conducted. All aspects of the medical care provided over a 6-month period were considered. The mean treatment costs per month were US dollars 22.97 (adults) and US dollars 15.56 (children). The cost of maintenance therapy accounted for 55.5% and 73.4% of the total direct cost treatment for adults and children respectively. Only 27 (52.9%) adults and 17 (34.0%) children paid for their inhaled prophylactic drugs, amounting to 12.3% of the total maintenance therapy costs. Thirteen (25.4%) adults and 9 (18.0%) children were using alternative therapy at a monthly cost of US dollars 41.50 and US dollars 16.77 respectively. A substantial proportion of the direct cost of asthma treatment is heavily subsidized in Malaysia. Adequate attention to the allocation of the health budget, to ensure the optimal provision of health care, is warranted.