Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation

Introduction: The tricho-rhino-phalangeal syndrome type III (TRPS III) is a rare autosomal dominantly inherited condition. The main clinical features are sparse and slow-growing hair and nails, a pear-shaped nose with a bulbous tip, elongated and flat philtrum, thin upper lip, cone-shaped epiphyses of the phalanges, and short stature. All patients have a point mutation in the TRPS1 gene. Case report: In this paper, we present a 13-year-old female with the typical clinical features of TRPS III, extreme growth retardation, severe deformities of both proximal radii resulting in limited extension of the elbows, and chronic renal failure (CRF) in addition. Molecular diagnostics revealed a missense mutation in exon 6 of TRPS1 that she inherited from her father who is also affected with TRPS III, but does not have CRF. In the index patient, the CRF was found to be due to bilateral renal hypodysplasia (RHD). Conclusion: Beside the renal dysplasia, the girl had severe deformities of the proximal radii – findings which have not been reported so far in TRPS III.     

Glutathione peroxidase 1 (GPX1) genetic polymorphism, erythrocyte GPX activity, and prostate cancer risk

Glutathione peroxidase 1 (GPX1) is a ubiquitously expressed selenium-dependent enzyme that protects cells against oxidative damage by reducing hydrogen peroxide and a wide range of organic peroxides. Some epidemiological studies have correlated low GPX activity or particular GPX1 polymorphisms with enhanced risk of cancer, although these correlations have not been consistently observed in all populations. Therefore, we conducted the present study to evaluate the possible association of GPX1 Pro198Leu polymorphism and erythrocyte GPX activity with the risk of developing prostate cancer and to clarify whether erythrocyte GPX activity levels were correlated with the GPX1 Pro198Leu genotype in the Macedonian population. The GPX1 Pro198Leu genotype was determined in 82 prostate cancer cases and 123 control individuals. We found an overall protective effect of the variant Leu allele of the GPX1 polymorphism on the prostate cancer risk. Heterozygous carriers of the variant Leu allele had a significantly lower risk of prostate cancer compared with homozygous wild-type individuals (OR, 0.38; 95% CI, 0.20–0.75; P = 0.004). Erythrocyte GPX activity was analyzed in 73 cases and 91 controls. The erythrocyte GPX activity in the cancer group was lower than in the healthy controls. Additionally, we compared the erythrocyte GPX activity in the control group of 90 subjects and found no significant differences by genotype. These findings suggest that individual susceptibility of prostate cancer may be modulated by GPX1 polymorphism and that the combination of genetic factors involved in oxidative response with environmental carcinogens may play an important role in prostate carcinogenesis.     

Ultrasonographic semiology--correlation between anatomy and sonography of musculoskeletal tissue

Diagnostic ultrasound (US) as noninvasive, non-ionisating and cost-effective imaging diagnostic technique has emerged as a useful imaging modality in rheumatology for the assessment of joint and soft tissue pathology. It can detect both early inflammatory soft tissue lesions (synovitis, tenosynovitis) and early erosive bone lesions in arthritis. Thus Power Doppler ultrasonography can differentiate active from inactive joint processes allowing monitoring of the new anti-inflammatory drugs used to treat inflammatory rheumatological diseases. In the process of learning the diagnostic technique memorizing and recognition of specific sonografic presentation of the different tissue structures, pathological processes, artifacts and pitfalls known as basic sonografic semiology is essential for appropriate interpretation of ultrasound image. In this paper ultrasound appearance of normal and basic pathological findings of different structures and tissues of musculoskeletal system is described and illustrated.     

Recovery of motor function after stroke: a polymyography-based analysis

We present a method for assessing muscle activation patterns during goal-directed movement. We present a cohort study from a randomized clinical trial that followed the recovery of motor function during and after intensive gait training, assisted by sensor-driven, four-channel electrical stimulation. The instrument that we developed allows for the simultaneous recordings of up to 16 channels that are wirelessly sent to a host computer, which then provides feedback to the subject. The inputs to the portable instrument support electromyography (EMG) amplifiers, inertial sensors and goniometers. We show that this method is sensitive enough to show changes in muscle activation patterns in stroke patients before and after gait training (four weeks, five days a week, 30 min daily). We also show that the recovery decreases the differences between patterns of muscle activities (e.g., levels of muscle activations and median frequencies) assessed in hemiplegic and healthy subjects. This method allows for the analysis of muscle contributions and activation patterns; therefore, it might be possible to better understand the physiology behind the recovery of function. This EMG analysis provides a quantification of recovery that is a valuable addition to other measures, such as the Fugl-Meyer score, the Berg-Balance score, gait speed, and the symmetry index.     

Nephrotic syndrome occurring during tiopronin treatment for cystinuria

Cystinuria is an autosomal recessive disorder characterized with abnormal tubular reabsorption of cystine and dibasic amino acids leading to cystine urolithiasis. The classical form is caused by mutations in the SLC3A1 gene (OMIM 220100). The cornerstone of the treatment is high hydration and alkalization of the urine to achieve urine pH between 7.0 and 7.5, at which point, cystine solubility in the urine is optimal. These measures very often fail, and thus addition of sulfhydryl agents like penicillamine and tiopronin (mercaptopropionyl glycine) is recommended. Herein, we report a 3-year-old boy with cystinuria resulting in recurrent nephrolithiasis requiring surgery and extracorporeal shock wave lithotripsy. Nine months after introduction of tiopronin, the boy manifested generalized edema, oliguria, and biochemical indices of nephrotic syndrome. Tiopronin was withdrawn, and the boy was given only supportive treatment. Within 10 days, he entered into clinical and biochemical remission. Pediatricians should be aware of this adverse effect of tiopronin, and therefore, testing of the urine with strips or sulfosalicylic acid at least once weekly at home may be very helpful for early detection of proteinuria.     

Pregnancy-related severe pelvic girdle pain caused by unilateral noninfectious sacroiliitis

Pelvic girdle pain during and after pregnancy is the clinical syndrome of persistent musculoskeletal pain localized in the posterior and/or anterior aspect of the pelvis originating from sacroiliac joints and/or pubic symphysis due to dynamic instability. We report the case of severe and disabling postpartum pelvic girdle pain caused by unilateral noninfectious sacroiliitis which resolved after 2 months by nonsteroidal anti-inflammatory drug and physical therapy. A short literature review is given on epidemiology, etiology, clinical presentation, therapy, and prognosis of pregnancy-related pelvic girdle pain.     

Standardised ultrasound scanning of the elbow

Musculoskeletal ultrasound (US) is noninvasive, nonionisating and cost-effective imaging diagnostic technique. It is a useful imaging modality for the diagnosis of joint and soft tissue pathology and can be considered as an extension of physical examination. Elbow is easily accessed due to its superficial position. A high resolution, multi-frequency (10-15 MHz) linear transducer should be used. US investigation of the elbow includes scanning of the anterior, medial, lateral and posterior part of the joint. Common flexor and extensor origin at the humearal epicondyles, triceps tendon, distal biceps tendon and ulnar nerve should be analised. The most frequent US finding of the elbow is lateral epicondylitis. In inflammatory arthropaties bursal distension and joint effusion are easily accessed by US. Power Doppler sonography is used for detection of sinovial vascularisation. In this paper standardized techinque for the US examination of the elbow is described. The normal ulrasound anatomy of the elbow is illustrated.     

Schwangerschaftsassoziierte transiente Osteoporose der Hüfte

Transient osteoporosis of the hip is a rare clinical disorder of unknown etiology, characterized by hip pain and functional disability that resolves spontaneously in 6-24 months. Despite a benign prognosis, the long clinical course causes prolonged disability. We report on a case of transient osteoporosis of the hip during pregnancy that was rapidly resolved with the use of calcitonin. An accurate diagnosis was made 2 months after the onset of symptoms (4 weeks postpartum) based on findings in the form of bone marrow edema of the right hip by magnetic resonance imaging. The patient received calcitonin for 8 weeks and the beneficial effect was observed after 3 weeks of therapy with full resolution of symptoms after 8 weeks of therapy (4 months after onset of symptoms). We suggest that the use of calcitonin may be considered as a therapeutic intervention to shorten the disease duration.