Israel Medical Association Journal

Background: Down syndrome is one of the most common chromosomal abnormalities. Children and adults with DS[1] have significant medical problems and require life-long medical follow-up.

Objectives: To determine the adequacy of medical surveillance of individuals with DS as recommended by the American Academy of Pediatrics.

Methods: The study was conducted at a multidisciplinary center specializing in the care of DS during the period 2004–2006. At their first visit to the Center, caregivers of individuals with DS were questioned about the medical status of their child including previous evaluations. Medical records brought in by the parents were reviewed.

Results: The caregivers of 150 individuals with DS (age ranging from newborn to 48 years old, median age 5 years) were interviewed and medical records were reviewed. The prevalence of specific medical problems differed between our population and the reported prevalence from other surveys. For example, 39.3% of our population had documented auditory deficits while the reported prevalence is 75%. For gastrointestinal and thyroid disease, the prevalence was higher in the studied population than that reported in the literature. In terms of compliance with the AAP[2] recommendations, most children (94%) underwent echocardiography, but only 42.7% and 63.3% had been tested for auditory or visual acuity respectively. Only 36.3% over the age of 3 years had cervical spine films.
Discussion: Many individuals with DS are not receiving appropriate medical follow-up and the implications of inadequate surveillance can be serious

Background: It is common practice to use topical antiseptic formulations prior to specific therapy in superficial infections and injuries, but not in corneal bacterial ulcers. There is accumulating evidence proving chlorhexidine gluconate 0.02%, an antiseptic agent, as an effective treatment for infectious keratitis.

Objectives: To investigate the safety and efficacy of chlorhexidine gluconate 0.02% as an adjunct therapy for corneal bacterial ulcers.

Methods: Twenty-six patients with corneal bacterial ulcers were treated with standard empirical antibiotic treatment. The study group was treated with chlorhexidine gluconate 0.02% while controls received placebo for one week. The patients were followed for at least 1 month.

Results: No allergic or toxic reactions were noted. Although a higher baseline severity of ulcers existed in the study group, no differences were found in final vision, scarring extent, or recovery duration.

Conclusions: Chlorhexidine gluconate 0.02% may improve the clinical course of corneal ulcers.
 

Approximately 1 in 31 people suffers from an autoimmune disease. The clinical care of patients with autoimmunity crosses multiple disciplines within pediatrics and internal medicine, including, for example, allergy-clinical immunology, rheumatology, nephrology, hematology, pulmonology and neurology. There are two major areas that are considered in the analysis of autoimmunity in human patients. The first of course is etiology and the second, and of even greater importance, is therapy. Towards that end, considerable attention has focused on the role of hematopoietic stem cell transplantation to either reverse or modulate autoimmune disease. Indeed, it is a field that has far more promise than premise based on a variety of issues, including economics, health care delivery, and obviously efficacy and safety. To put this in perspective, we have attempted to review some of the issues that pertain to this novel approach to the management of autoimmunity. Finally, we emphasize the need to incorporate basic research into therapeutic trials, a vacuum all too often present in clinical intervention.

Background: Although the comprehensive evaluation of the fetal heart includes echocardiography by an experienced pediatric cardiologist, economic constraints sometimes dictate the need to select patients.

Objectives: To analyze the usefulness of fetal echocardiography in the detection of congenital heart disease according to the referral indication.

Methods: This retrospective survey relates to all 3965 FE studies performed in our center from January 2000 to December 2004. The diagnosed cardiac anomalies were classified as significant and non-significant malformations. All FE[1] studies were done by a single operator (A.L.) at Meir Medical Center, a referral center for a population of about 400,000. The 3965 FE studies were performed for the following indications: abnormal obstetric ultrasound scans, maternal and family history of cardiac malformations, medication use during the pregnancy, and maternal request. The relative risk of detecting CHD[2] was calculated according to the various referral indications.

Results: Overall, 228 (5.8%) cases of CHD were found. The most common indication for referral was suspicion of CHD during a four-chamber view scan in a basic system survey or during a level II ultrasound survey. No correlation was found between maternal age and gestational age at the time of scanning and the likelihood of finding CHD.

Conclusions: Our data suggest that a suspicious level-II ultrasound or the presence of polyhydramnios is an important indication for FE in the detection of significant CHD.

Background: Gunshot wounds impose a continuous burden on community and hospital resources. Gunshot injuries to the extremities might involve complex soft tissue, bone, vascular, musculotendinous, and nerve injuries. A precise knowledge of anatomy is needed to evaluate and treat those injuries.

Objectives: To review our experience with gunshot wounds to the extremities.

Methods: We retrospectively reviewed all cases of gunshot wounds to the limbs in a civilian setting treated in our institution during 2003–2005. Altogether, we evaluated 60 patients with 77 injuries.

Results: Of the 60 patients 36 had fractures, 75% of them in the lower extremity and 81% in long bones. The most common fixation modality used was external fixation (33%), followed by intramedullary nailing (25%). This relatively high percentage of fracture treated with external fixation may be attributed to the comminuted pattern of the fractures, the general status of the patient, or the local soft tissue problems encountered in gunshot wounds. About one-fifth of the fractures were treated by debridement only without hardware fixation. We treated 10 vascular injuries in 8 patients; 6 of them were injuries to the popliteal vessels. Fractures around the knee comprised the highest risk factor for vascular injuries, since 5 of the 12 fractures around the knee were associated with vascular injury requiring repair or reconstruction. There were 13 nerve injuries (16.8%), most of them of the deep peroneal nerve (38%). Only three patients had concomitant nerve and vascular injuries. The overall direct complication rate in our series was 20%.

Conclusions: Treating complex gunshot injuries requires a team approach, necessary for a favorable outcome. This team should be led by an orthopedic surgeon knowledgeable in the functional anatomy of the limbs.
 

Background: Due to the absence of accurate tools and appropriate photographic material there is a paucity of objective studies on facial aging in the modern literature.

Objectives: To measure changes in two elements of the face: brow ptosis and cheek mass migration, using an objective tool that we developed, which we then used to evaluate facial aging in two subjects, studying serial professional photographs over a 25 year period.

Methods: We studied the photographic atlas of the "Brown Sisters," a record of the yearly group photograph of four sisters, taken by the photographer Nicolas Nixon. For technical reasons, only two of the sisters fulfilled the criteria we set for the study. We used the interpupillary distance of each photograph studied to standardize the brow height and cheek mass distance from the interpupillary line.

Results: We observed progressive medial brow descent occurring at about the age of 30, with apparent stabilization thereafter. In contrast, there was a continuous process of lateral brow descent through the years. A process of gradual cheek mass descent was noted in the second half of the third decade.

Conclusions: Our results indicate that the dynamic brow changes start in the second half of the third decade, with more significant lateral brow descent than medial brow descent. The cheek mass reflective point moves in an inferior-lateral direction. The tool we developed can be used to follow aging changes and postoperative results, thereby helping the surgeon achieve true rejuvenation surgery.

Background: Tissue expansion is a well-recognized technique for reconstructing a wide variety of skin and soft tissue defects. Its application in the pediatric population has enabled the plastic surgeon to achieve functional and aesthetic goals that were previously unobtainable.

Objectives: To review the use of tissue expansion in the pediatric population, with particular emphasis on indication, operative technique, regional considerations and how to avoid complications.

Methods: We retrospectively reviewed data on 103 expanded flap reconstructions performed in 41 pediatric patients during the period 2003–2006. Tissue expanders were placed on a subcutaneous plane above the fascia and inflated weekly. The expanded skin was used as a transposition flap or a full thickness skin graft for the reconstruction of the involved area. Forty-three tissue expanders were inserted to the head and neck in 21 patients, 45 were inserted to the trunk in 13 patients and 15 were inserted to the groin and lower extremity in 8 patients. Twenty-eight patients had one round of tissue expansion, while 13 patients had two to six rounds. A plastic surgeon, medical student and a lawyer reviewed the patients' photographs and evaluated their aesthetic outcome:

Results: Eighty-six percent of the head and neck reconstructions and 40% of the trunk and extremity reconstructions were graded as having excellent aesthetic outcome, and 11% of the head and neck reconstructions and 37% of the trunk and extremity reconstructions were graded with good aesthetic outcome. The remaining patients were graded with moderate outcome. None of our patients was graded as poor aesthetic outcome. Complications included infection in 6 patients (6%), extrusion in 3 (3%), hematoma in 2 (2%), flap ischemia in one patient (1%), and expander perforation after percutaneous stabbing in one patient (1%).

Conclusions: Tissue expansion is an efficient and valuable technique for reconstruction of large skin lesions and scars.

In recent years the survival of patients with systemic lupus erythematosus has increased markedly. Consequently, long-term complications, such as osteoporosis, are currently of paramount importance. SLE[1] is known to increase the risk of bone fractures, and numerous studies have found that SLE patients have osteoporosis. Of the various risk factors associated with osteoporosis in SLE, disease duration, the use of corticosteroids and chronic disease-related damage are consistently reported, with differences between studies probably due to the different populations studied. The role of chronic inflammation in osteoporosis is also important. On the other hand, little attention has been paid to osteoporotic fractures, especially of the vertebra, which are associated with reduced quality of life, increased mortality rates and increased risk of new vertebral and non-vertebral fractures in the general population.

Background: Sporadic abdominal desmoid tumors are rare and data on these tumors as a distinct disease entity are lacking. Previous abdominal surgery, trauma, pregnancy and estrogen intake are considered risk factors. Although desmoidsare benign, invasion and a high recurrence rate are common.

Objectives: To evaluate outcomes of surgery for this rare disease.

Methods: Since 1995, 16 patients with pathologically confirmed desmoid tumor were operated on in our center. All familial adenomatous polyposis patients were excluded. A retrospective analysis of data was performed.

Results: Of the 16 patients 12 (75%) were females. Mean age was 40.5 years (range 24-70). Thirteen patients were symptomatic and 3 were incidentally diagnosed. All patients presented with an isolated mass; 7 (50%) originated in the abdominal wall, 6 (37.5%) were retroperitoneal and 3 were (18.8%) mesenteric. All tumors except one were completely excised. Morbidity was low with no mortality. One patient was reoperated due to involved margins. None of the patients had recurrence within a median follow-up of 64 months (range 5-143).

Conclusions: The perception of sporadic abdominal desmoids as tumors with a high recurrence rate (20-70%) is probably incorrect. Adequate surgery with wide margins leads to a very low recurrence rate; cure is a legitimate goal.