Congenital pancreatic hypoplasia: a syndrome of exocrine and endocrine pancreatic insufficiency

We describe two brothers with small size at birth, early-onset insulin-dependent diabetes, and pancreatic exocrine insufficiency. In contrast to the findings in pancreatic aplasia, their serum C-peptide and glucagon levels were measurable. These findings, in concert with their clinical courses, are consistent with the diagnosis of congenital pancreatic hypoplasia.     

Effects of skin storage conditions and concentration of applied dose on [3H]T-2 toxin penetration through excised human and monkey skin

Penetration of [3H]T-2 toxin through excised human and monkey skin stored at -60 degrees C was faster than through human and monkey skin stored at 4 degrees C, respectively. The permeability of refrigerated human skin was 34% of the permeability of refrigerated monkey skin. Increasing the concentration of [3H]T-2 toxin applied to the refrigerated monkey skin increased the amount of [3H]T-2 toxin penetrating the skin and enhanced the efficiency of penetration. Metabolites of [3H]T-2 toxin were identified in the receptor fluid bathing the dermal side of the excised human and monkey skin.     

Child Health and Pediatric Education in Oklahoma

The University of Oklahoma Medical Center has a comprehensive program of pediatric training, research and patient care. Establishment of the Oklahoma Health Center and its Children's Medical Center on the University campus will provide expanded opportunities for training and research in cooperation with other organizations concerned with child health and development.     

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = ?0.81); most patients with low-medium (39–55) repeat numbers survived until the end of reproductive age. The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated at 1.6 CAG repeats. The fertility rates of heterozygous carriers of 39–55 CAG repeats in women were no different from those of the general Sakha population. Overall, the survival of mutation carriers through reproductive age, unaltered fertility rates, low childhood mortality in SCA1-affected families, and intergenerational transmission of increasing numbers of CAG repeats in the ATXN1 gene indicate that SCA1 in the Sakha population will be maintained at high prevalence levels. The low (0.19) Crow’s index of total selection intensity in our SCA1 cohort implies that this mutation is unlikely to be eliminated through natural selection alone.     

Evaluation of registration methods used in frameless stereotactic surgery for the lumbar and cervical regions of the spine

Computer-assisted pedicle screw insertion is feasible but has proved to be problematic. The purpose of this study was to detail the accuracy of registration techniques and pedicle screw insertion using a frameless stereotactic system. Two registration techniques were evaluated on a model spine. The frameless stereotactic system was then used to insert 26 pedicle and 8 lateral mass screws in human cadavers. For posterior vertebral elements, trajectory accuracy was 2.5 +/- 1.0 mm between T12 and L5 and 2.2 +/- 0.9 mm between C2 and T1. Registration of the anterior elements, however, was less accurate. Despite this flaw, all screws were inserted without penetrating the cortex. Screw trajectory was accurate to 2 degrees. The main limitation of frameless stereotactic surgery in the spine stems from the fact that only the posterior vertebral elements are used during registration. Despite this flaw, the system placed all screws correctly. Given these limitations, we believe that this system is most useful for locating the screw insertion point and providing a trajectory in the pedicle.     

Comparison of patient and doctor responses to a total hip arthroplasty clinical evaluation questionnaire

BACKGROUND: Surgeons traditionally undertake a prospective evaluation of patients undergoing total hip arthroplasty in order to determine outcomes. The validity of doctor-derived data is questionable because of the potential for interobserver error, reporting bias, and differences between the perceptions of doctors and patients. Also, the use of doctor-derived data necessitates the use of costly outpatient services. Consequently, there are likely to be benefits associated with the use of patient-derived clinical evaluation data. However, few studies have focused on whether data obtained from the patient and doctor differ. METHODS: The agreement between patient and doctor responses on a sixteen-item total hip arthroplasty clinical evaluation questionnaire completed at more than 2900 clinical assessments was determined. Data from repeated assessments performed preoperatively and postoperatively enabled stratified analyses that were used to examine reasons for disagreement and factors influencing agreement. Agreement was measured with use of the kappa coefficient. RESULTS: For twelve of the sixteen items, the patient responses had acceptable agreement with the doctor responses. Some important differences between patient-derived and doctor-derived data were found. If the patient had other joint or health problems, had a revision total hip arthroplasty, or reported mild or moderate pain, there was a greater chance of reduced agreement on the pain items. Younger patients demonstrated better agreement with doctors than older patients did. CONCLUSIONS: Patients' perceptions of symptoms and outcomes after total hip arthroplasty are relatively similar to those of their doctor. There is minimum risk of misinterpreting outcomes data by replacing doctor-completed questionnaires with patient-completed questionnaires in uncomplicated total hip arthroplasty cases. For patients with comorbid joint problems or other health problems, and for those reporting substantial pain, direct physician involvement in the evaluation of pain is recommended. The selective use of patient-completed questionnaires has the potential to substantially reduce the costs of outcomes evaluation programs by minimizing doctor input. Pending revision of some of the items, the use of this patient-completed questionnaire is advocated.     

Presentation of Metastatic Carcinoma as Pedal Stress Fracture and Ingrown Toenail

Metastatic lesions localized to the foot are rare. When present, such lesions are typically associated with a poor prognosis. A good history can help guide the clinician when formulating differential diagnoses for a questionable clinical presentation. We report the case of a patient presenting with findings indicative of a metatarsal stress fracture and an ingrown toenail, which eventually resulted in the diagnosis of metastatic disease from the lung. ACFAS Level of Clinical Evidence: 4.     

The microfracture technique for the treatment of articular cartilage lesions in the knee. A prospective cohort study

BACKGROUND: Microfracture is a frequently used technique for the repair of articular cartilage lesions of the knee. Despite the popularity of the technique, prospective information about the clinical results after microfracture is still limited. The purpose of our study was to identify the factors that affect the clinical outcome from this cartilage repair technique. METHODS: Forty-eight symptomatic patients with isolated full-thickness articular cartilage defects of the femur in a stable knee were treated with the microfracture technique. Prospective evaluation of patient outcome was performed for a minimum follow-up of twenty-four months with a combination of validated outcome scores, subjective clinical rating, and cartilage-sensitive magnetic resonance imaging. RESULTS: At the time of the latest follow-up, knee function was rated good to excellent for thirty-two patients (67%), fair for twelve patients (25%), and poor for four (8%). Significant increases in the activities of daily living scores, International Knee Documentation Committee scores, and the physical component score of the Short Form-36 were demonstrated after microfracture (p < 0.05). A lower body-mass index correlated with higher scores for the activities of daily living and SF-36 physical component, with the worst results for patients with a body-mass index of >30 kg/m(2). Significant improvement in the activities of daily living score was more frequent with a preoperative duration of symptoms of less than twelve months (p < 0.05). Magnetic resonance imaging in twenty-four knees demonstrated good repair-tissue fill in the defect in thirteen patients (54%), moderate fill in seven (29%), and poor fill in four patients (17%). The fill grade correlated with the knee function scores. All knees with good fill demonstrated improved knee function, whereas poor fill grade was associated with limited improvement and decreasing functional scores after twenty-four months. CONCLUSIONS: Microfracture repair of articular cartilage lesions in the knee results in significant functional improvement at a minimum follow-up of two years. The best short-term results are observed with good fill grade, low body-mass index, and a short duration of preoperative symptoms. A high body-mass index adversely affects short-term outcome, and a poor fill grade is associated with limited short-term durability.