Factors predicting mortality in midlife adults with and without Down syndrome living with family

Background Little is known about the mortality of individuals with Down syndrome who have lived at home with their families throughout their lives. The current study evaluates the predictors, causes and patterns of mortality among co‐residing individuals in midlife with Down syndrome as compared with co‐residing individuals with ID owing to other causes. Method This paper examines mortality in 169 individuals with and 292 individuals without Down syndrome from 1988 to 2007. Dates and causes of death were obtained from maternal report, the Social Security Death Index and the National Death Index. Risk factors predicting mortality, including demographic variables, transition variables, and initial and change measures of health, functional abilities and behaviour problems, were obtained from maternal report. Results Having Down syndrome is a risk factor of mortality, net of other risk factors including older age, poorer functional abilities, worsening behaviour problems, residential relocation and parental death. The causes of death among individuals with and without Down syndrome who are in midlife and co‐residing with their families are similar, and are most commonly due to cardiovascular or respiratory problems. Conclusions The findings indicate that midlife adults with Down syndrome who co‐reside with their families generally exhibit similar causes of mortality as do midlife adults with intellectual disability owing to other causes, but show an elevated risk of mortality in midlife net of other variables, such as age and changes in functional abilities and behaviour problems.     

Flexor digitorum profundus tendongrafting (extrasynovial donor tendons)

Although the prevalence of flexor tendon grafting has decreased since the early part of this century, the technique isstill an important part of a hand surgeons armamentarium. Primary and staged flexor tendon grafting are appropriate techniques used to restore digital function after failed or neglected repairs. Appropriate patient selection, meticulous reconstructive techniques, and respect for basic biological principles of healing and repair are essential elements for successful tendon grafting.     

Subperiosteal osteoid osteoma of the hamate: a case report.

Osteoid osteoma is uncommon in the hand. The lesion can arise from either cortical or cancellous bone or subperiosteally. The latter localization is extremely rare in the hand, with only 4 reported cases in the English-language literature. Furthermore, characteristic radiographic findings of a central lucency surrounded by reactive sclerosis often emerge only late in the process, or not at all. Consequently, the diagnosis of osteoid osteoma of the hand can be delayed. We report a case of a subperiosteal osteoid osteoma of the hamate in which the diagnosis was delayed 2 years.     

Cervical Anterior Spinal Cord Infarction

Spinal cord infarction or ischemia predominates in the thoracic region, less so in the cervical and lumbar regions. Different etiological factors have been implicated in anterior spinal artery syndrome. Magnetic resonance imaging (MRI) allows in vivo imaging of spinal cord disease, including infarction. A 31-yearold, previously healthy man had an acute onset of interscapular pain, followed by rapid development of quadriparesis associated with paresthesias and mild bladder dysfunction. Initial MRI of the cervicothoracic region demonstrated normal findings. A repeat study obtained 6 days later showed marked increase in the cervical cord size, especially at the C6-7 level. On the T2-weighted sagittal series and after gadolinium injection, increased signal in the anterior portions of the cord extending from C-4 to the T2-3 interspace was noted. This was most prominent at the C-6 and C-7 levels. The coronal views revealed abnormal high signal in the region of the anterior horns of the gray matter, a finding that is recognized as an “owl's eyes” pattern. Because the MRI changes of cerebral infarction may succeed a clinical event by hours or days, accurate diagnosis may require delayed or repeated studies. This report suggests that the diagnosis of spinal cord disease requires a similar evaluation.     

Further experience with radiation therapy and concomitant intravenous chemotherapy in advanced carcinoma of the lower female genital tract

Sixty-seven patients with advanced carcinoma of the lower female genital tract (cervix, vagina, and vulva) were treated with radiation and concomitant intravenous cisplatin and/or 5-fluorouracil. Fifty-seven patients (85%) responded completely clinically. Thirty-five (61%) complete responders recurred with a median time to recurrence of 6 months. Twenty-six of the thirty-five patients who recurred had some component of local failure. The 22 complete responders who have not recurred have been followed a median of 13 months. Acute toxicity was minimal, with only 6 patients requiring interruption of therapy. Nine (13%) patients developed severe late complications and eight required surgery. The actuarial 5-year survival is 22%. This treatment regimen is disappointing in terms of both survival and local control.     

Primary treatment of pelvic osteosarcoma. Report of five cases.

Five patients, ages 12 to 20 years, with nonresectable primary (Patients 2, 3, and 5) and metastatic (Patients 1 and 4) pelvic osteosarcomas were treated with intraarterial cisplatin and concurrent radiation therapy from 1983 to 1987. Long-term local tumor control was achieved in all five patients. Patients 1 and 3 are alive with no evidence of local recurrence or metastatic disease at 77 and 56 months of follow-up, respectively, since diagnosis of the pelvic tumor. Patients 2, 4, and 5 died of metastatic lung disease at 25, 39, and 12 months, respectively, after diagnosis of the pelvic tumor. Patient 4 had no clinical or radiologic evidence of local recurrence. Control of tumor growth in patients with pelvic osteosarcomas can be achieved with regional chemotherapy and concurrent radiation therapy. These patients also should receive adjuvant intensive systemic chemotherapy to increase the probability of eliminating potential subclinical metastatic disease.     

Multiple Infundibulocystic Basal Cell Carcinomas: Case Report of Unique Unilateral Presentation

BACKGROUND: Basal cell carcinoma shows a wide spectrum of clinical and histologic appearances. A distinct tumor variant with follicular infundibulocystic differentiation is recognized, and there are only a few reports on its clinical presentation and management. OBJECTIVE: To report a case of multiple infundibulocystic basal cell carcinomas with a unique unilateral presentation. METHODS: A clinical history was obtained. Photographs were taken, and punch biopsies were performed. RESULTS: An 83-year-old Caucasian female presented with multiple unilateral, asymptomatic, skin-colored, dome-shaped papules around the right mouth for 11 years without apparent change. Punch biopsies revealed findings typical of infundibulocystic basal cell carcinoma. CONCLUSIONS: A patient with clinically indolent multiple unilateral infundibulocystic basal cell carcinomas is described. Given the location of these multiple lesions, standard treatment modalities for basal cell carcinomas would have significant cosmetic and functional implications. A management approach with clinical follow-up and surgical intervention only for changing lesions is discussed.