Disability levels of college-aged men with a history of Osgood-Schlatter disease

Osgood-Schlatter disease (OSD), which is a traction apophysitis of the tibial tuberosity, is one of the most common orthopedic conditions that adolescent athletes will encounter. Adolescent athletes with OSD typically present with pain, swelling, and tenderness over the tibial tuberosity that worsens with athletic activity. Few published reports have described the effects of OSD on the disability levels of athletes beyond adolescence. Therefore, the purpose of this study was to assess the disability levels of college-aged male subjects (n = 25, mean age = 20.3 years) who have a history of OSD and compare their status to a control group of healthy male subjects with no history of OSD (n = 25, mean age = 20.4 years) matched by intercollegiate sport and age. The mean time from being diagnosed with OSD to participation in this study was 7.6 +/- 2.4 years for subjects in the OSD group. All subjects completed the Knee Outcome Survey Activities of Daily Living Scale and Sports Activity Scale, which served as our measure of disability. The results indicated that subjects with a history of OSD scored significantly lower than subjects in the control group on both the Knee Outcome Survey Activities of Daily Living Scale and Sports Activity Scale, indicating that subjects with OSD experienced higher levels of disability than subjects in the control group.     

CFC syndrome: a syndrome distinct from Noonan syndrome

We report two children with a common pattern of birth defects. Both have very sparse, curly hair, nystagmus and mental retardation. The first one has Noonan syndrome habitus associated with keratosis plantaris and nystagmus; the second one has a slightly Noonan-like face, macrocephaly, keratosis pilaris, and hypertrophic cardiomyopathy. They represent the extreme of a spectrum of congenital defects recently reported independently as CFC syndrome by Reynolds and as "Noonan-like short stature syndrome with sparse hair" by Baraitser and Patton. The clinical features are reviewed and the autonomy of the syndrome with regards to Noonan syndrome, is disputed, since every sign seems to occur independently in Noonan syndrome. The father of the second case probably has a minor syndrome expression, pointing to probable autosomal dominant inheritance.     

Metabolic syndrome in polycystic ovary syndrome

Both metabolic syndrome (MS) and polycystic ovary syndrome (PCOS) are common among women. The exact prevalence of MS in women with PCOS is dependent upon the diagnostic criteria used for each. However, the frequent co-occurrence of both MS and PCOS in women is suggestive of a common aetiology. In this short review article we argue that insulin resistance, as a consequence of abdominal obesity, may represent such a common aetiology. We also review the literature on the prevalence of MS in women with PCOS and consider the impact that the particular criteria used to diagnose both MS and PCOS may have had on these estimates of prevalence.     

Combined klinefelter-Down syndrome or XXYY syndrome?

Summary A case of 48,XXYY constellation is described to demonstrate that both the fluorescence-banding technique and the papillar pattern allow a clear differential diagnosis from the 48,XXY,G+ syndrome, regardless of the clinical appearance.

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Zusammenfassung An Hand eines Falles von 48,XXYY-Konstellation wird demonstriert, daß sowohl die Fluoresenzbandentechnik als auch der Hautleistenbefund eine sichere Differentialdiagnose zum 48,XXY,G+-Syndrom, unabhängig vom klinischen Erscheinungsbild, erlauben.

     

The Prader-Willi syndrome and the Angelman syndrome

The Prader-Willi syndrome and the Angelman syndrome are characterised by a complex clinical and behavioural phenotype resulting from loss of paternal or maternal expression, respectively, of genes located on the human chromosome 15q11-13. Different molecular mechanisms leading to this imbalance have been identified, including microdeletions, intragenic mutations, uniparental disomy and imprinting centre defects. Low copy repeat gene clusters are known to flank the 15q11-13 microdeletion. They predispose to unequal crossing-over events resulting in the deletion. Involvement of multiple disease genes is strongly suspected and traditional positional cloning techniques as well as animal models are used to identify the involved genes. In this review we include the present state of art and a delineation of future approach to study the candidate genes in these two syndromes.     

Bloom's syndrome

Summary The biochemical defect in Bloom's syndrome (BS) remains unknown, but two characteristic features of BS cells point to a disturbance of DNA replication, namely, an excessive number of sister-chromatid exchanges (SCEs) in bromodeoxyuridine (BrdU)-substibuted cells and an abnormally slow rate of replicon elongation. The hypothesis of an abnormal DNA polymerase as the explanation for these observations was tested using an in situ assay system for DNA polymerase activity and to estimate molecular weights in cellular extracts of cultured BS cells. DNA polymerase subunits in cellular extracts from the BS cells when separated electrophoretically on polyacrylamide gels showed the same mobilities (i.e., molecular weights) as the controls and were equally effective at promoting the incorporation of isotopically labeled nucleosides. It is concluded that the genetic defect in BS has no direct effect on either DNA-polymerase activity or the amounts and molecular weights of the different forms of the enzyme.     

Vogt-Koyanagi syndrome

Cytologic examination of 9,000 specimens of mucoid material taken from the cervices of 3,000 women who had no clinically observable vaginal abnormality was carried out. Sixteen of them had carcinoma, later proved by tissue examination. In 15 cases the lesion was epidermoid carcinoma of the cervix and in one was adenocarcinoma of the endometrium. Routine use of examination of mucoid specimens easily and painlessly obtained from the vagina should contribute substantially to a lower mortality from pelvic carcinoma.     

Cerebro-costo-mandibular syndrome

Summary A 7-month-old boy with the cerebro-costomandibular syndrome is presented. This is the first case report in an Oriental population.15 reported cases in the literature are reviewed.     

Hypoparathyroidism-retardation-dysmorphism syndrome

Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad-Sakati or hypoparathyroidism-retardation-dysmorphism syndrome (HRD). We report 13-year-old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.     

Heart-hand syndrome

Summary We have studied members of three generations of the same family affected by brachydactyly, which is accompanied by intraventricular conduction defects in three cases (proband's father and two of his sons) and sick sinus syndrome in the proband.The brachydactyly described affects mainly the middle phalanges of both hands; the index and fifth fingers are more severely affected than the other fingers. It also includes a rare variant with an ossicle on the proximal phalanx of both index fingers, which reduces them in length and causes them to deviate towards the ulnar border of the hand. The feet also tend to be affected, but to a lesser degree. No other pathological findings were recorded.It is therefore suggested that the anomalies detected in this family are transmitted by an autosomal dominant mode of inheritance, thus forming a syndrome.