Immunological and metabolical studies in two siblings with Papillon-Lefevre syndrome

Two cases of typical Papillon-Lefevre syndrome in one family were reported. Neither patient showed evidence of systemic disease as assessed by the medical history and a battery of clinical laboratory tests including a screening system for the detection of inborn errors of metabolism.
A survey of the patients' immunological status, including lymphocyte transformation tests using mitogens and polymorphonuclear leukocyte chemoiaxis studies, gave no indication of disturbances in immunological functions and host defense mechanisms. Possible pathogenetic mechanisms are discussed.     

Extraoral subcondylar ramus osteotomy for correction of mandibular prognathism: The surgical technique and complications

1178 patients with mandibular prognathism and/or asymmetry, in some cases combined with maxillary retrognathism, were treated by extraoral horizontal or oblique ramus osteotomy during the period from 1939 to 1989. The described percutaneous retromandibular approach is a simple, rapid and reliable technique which can usually be performed under local anaesthesia. Very few complications, particularly neurological, were observed. These aspects justify consideration of this technique when indications for a simple, straight set-back procedure of the mandible exist, and there is no tendency to bite-opening. However, the method demands intermaxillary fixation for 6-9 weeks postoperatively.     

Psychiatric morbidity in two low birth weight groups assessed by diagnostic interview in young adulthood

Aim: To study the prevalence and characteristics of psychiatric symptoms and disorders in young adults born with low birth weight. Methods: At 20 years of age 44 very low birth weight (VLBW: birth weight ≤1500 g), 55 term born small for gestational age (SGA: birth weight <10th percentile) and 75 control subjects born 1986–1988 were assessed using the interview Schedule for Affective Disorders and Schizophrenia for School‐age children and Structured Clinical Interview for DSM‐IV Personality Disorders, Children’s Global Assessment Scale and Attention deficit hyperactivity disorder (ADHD) Rating Scale IV; self‐report and parent report. Results: Fourteen (33%) VLBW versus six (8%) control participants had a definite psychiatric disorder: OR = 5.6 (1.9–15.9). In the term SGA group, 14 (26%) had a disorder: OR = 3.9 (1.4–11.0) vs controls. Anxiety disorders and ADHD were the most frequent diagnoses. The differences were not explained by gender, assessment age or parental socioeconomic status. ADHD Rating Scale mean scores were higher in parent reports in the VLBW group and in self‐reports in the term SGA group compared with the control group. Conclusion: Children born with low birth weight whether caused by preterm birth or by growth retardation at term seem to be at increased risk for psychiatric disorders as young adults.     

Myocardial performance index (Tei index) does not reflect long-term changes in left ventricular function after acute myocardial infarction

AIMS: To evaluate whether changes in myocardial performance index (MPI or Tei index) were related to changes in other Doppler echocardiographic parameters after acute myocardial infarction, or had any independent prognostic impact in a 2-year observational study. METHODS AND RESULTS: Seventy-one patients with acute myocardial infarction without heart failure were examined at baseline, 3 months, and 2 years. MPI was significantly related to end-diastolic and end-systolic volume indexes, ejection fraction, maximal velocity, and time velocity integral of early mitral filling wave at 3 months and 2 years. MPI did not contribute significantly to the prediction of any changes in the measures of diastolic or systolic function at 3 months or 2 years. Baseline MPI was significantly higher in patients who later developed heart failure(0.55 +/- 0.16)than in other patients(0.43 +/- 0.13, P = 0.006), but had no independent predictive power for the development of heart failure or death relative to end-systolic volume index and deceleration time of early mitral filling wave. CONCLUSION: MPI did not accurately reflect changes in Doppler and two-dimensional echocardiographic measures of diastolic or systolic function during a 2-year follow-up after acute myocardial infarction, and did not have any independent prognostic impact.     

Health-related quality of life in patients with inflammatory bowel disease five years after the initial diagnosis

BACKGROUND: Health-related quality of life (HRQOL) has become an important tool in evaluating patient satisfaction in inflammatory bowel disease (IBD). So far, few prospective follow-up studies have been done to identify variables that influence HRQOL. We aimed to identify demographic and clinical variables that influence HRQOL 5 years after diagnosis in patients with ulcerative colitis (UC) or Crohn disease (CD) included in a prospective follow-up study from 1990 to 1994 (the IBSEN study). METHODS: All patients completed the Inflammatory Bowel Disease Questionnaire (IBDQ), a disease-specific quality-of-life questionnaire translated into Norwegian and validated. We present data from 497 patients (328 UC patients and 169 CD patients, mean age 43.3 years, 48% female). The impact of age, gender, smoking, symptom severity, disease distribution, rheumatic symptoms and surgery on IBD patients' HRQOL was analysed. RESULTS: Women had a reduction in IBDQ total score of 10 points compared to men, CD patients had a reduction of 7.5 compared to UC patients. The patients with moderate/severe symptoms had a 50 points lower score than the patients without symptoms. The patients with rheumatic symptoms had a 10 points lower total score than the patients without these symptoms. All differences were statistically significant. The multiple regression analysis showed that symptom severity, rheumatic symptoms and female gender were the strongest predictors of reduction in HRQOL for both diagnosis groups. CONCLUSION: IBD symptoms, rheumatic symptoms and female gender have a significant influence on patients' HRQOL as measured by IBDQ. This was confirmed by the regression analysis.     

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer-associated inherited mutations in these genes are collectively quite common, but individually rare or even private. Genetic testing for BRCA1 and BRCA2 mutations has become an integral part of clinical practice, but testing is generally limited to these two genes and to women with severe family histories of breast or ovarian cancer. To determine whether massively parallel, “next-generation” sequencing would enable accurate, thorough, and cost-effective identification of inherited mutations for breast and ovarian cancer, we developed a genomic assay to capture, sequence, and detect all mutations in 21 genes, including BRCA1 and BRCA2, with inherited mutations that predispose to breast or ovarian cancer. Constitutional genomic DNA from subjects with known inherited mutations, ranging in size from 1 to >100,000 bp, was hybridized to custom oligonucleotides and then sequenced using a genome analyzer. Analysis was carried out blind to the mutation in each sample. Average coverage was >1200 reads per base pair. After filtering sequences for quality and number of reads, all single-nucleotide substitutions, small insertion and deletion mutations, and large genomic duplications and deletions were detected. There were zero false-positive calls of nonsense mutations, frameshift mutations, or genomic rearrangements for any gene in any of the test samples. This approach enables widespread genetic testing and personalized risk assessment for breast and ovarian cancer.