A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.

BACKGROUND: DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. CASE PRESENTATION: We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far. CONCLUSIONS: DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.

[Immunological Aspects in Oncology--Circulating γδ T Cells]. / Imunologické aspekty v onkologii--cirkulující γδ T lymfocyty.

γδ T cells present a minor population of the T cell family which basically differs in construction of their T cell receptor (TCR). Thanks to the features of γδ TCR, these cells can acquire unique effector functions and play a specific role (not only) in antitumor immune response. In this article, we describe the basic characteristics of this cell population and their connection to cancer. In the experimental part we performed exploratory analysis of circulating γδ T cells in reference population and comparison with melanoma and breast carcinoma patients. The median percentage of γδ T cells from all lymphocytes was 2.9% (interquartile range-IQR 1.7-4%). The median absolute numbers of γδ cells per liter of blood was 5.05×10(7) (IQR 2.9-7.84×10(7)). The median percentage of γδ cells between all CD3 T cells was 3.9% (IQR 2.3-5.6%). No correlation between γδ T cells levels and gender or age was observed in reference population. Detailed immunophenotyping was also conducted describing representation of memory subsets (using CD45RO and CD27 markers) and presence of surface markers HLADr, CD69, CD25, CD28, CCR7, CTLA 4, ICOS, PD 1L and PD 1 between γδ T cells of the controls and breast carcinoma patients. From this analysis, it is evident that γδ T cells do not represent a uniform population but they differ in surface markers as well as in their effector functions.

Differential effects of kainic acid lesions in medullary raphe on cough and sneeze in anesthetized rabbits.

The effects of microinjections of the excitatory neurotoxin kainic acid (2 mg/ml; 49 ± 1 nl) on the mechanically induced tracheobronchial cough, sneeze, and solitary expulsions from the trachea were examined in 11 anesthetized rabbits. Kainic acid was injected into the medulla (1.6-2.8 mm rostral to the obex, 1.4-1.6 and 2.9-3.2 mm below the dorsal medullary surface). Blood pressure, esophageal pressure (EP), and electromyograms (EMGs) of the diaphragm (DIA) and abdominal muscles (ABD) were recorded. Kainic acid reduced the number of coughs (means ± SE) from 3.8 ± 2.0 to 0.9 ± 0.7 (p = 0.016), the amplitude of DIA cough from 90 ± 11 to 42 ± 13 % (p = 0.004), ABD EMG moving average from 103 ± 9 to 37 ± 15 % (p = 0.006), and inspiratory from 0.67 ± 0.13 to 0.36 ± 0.12 kPa (p = 0.013) and expiratory EP from 1.70 ± 0.54 to 0.89 ± 0.46 kPa (p = 0.008). Kainic acid had no effect on the number of sneeze reflexes nor did it affect solitary expulsions from the trachea. These effects were accompanied by significant increases in systemic blood pressure and respiratory rate. Spatiotemporal analysis of the cough and sneeze reflexes revealed increases in the duration of cough active expiratory phase, in the intervals between maxima of DIA and ABD EMG discharges, and in the active portion of total cough phase duration. Our findings suggest a diverse role of raphe neurons in the central control of motor airway responses such as coughing and sneezing. A complex function of raphe neurons in the generation of the cough motor pattern also is suggested.

Low back pain and its relation to the hip and foot.

STUDY DESIGN: Case study. OBJECTIVE: To describe a treatment approach for a patient with recurrent low back pain who also had asymmetry in hip rotation between the left and right sides. BACKGROUND: The patient's chief complaint was dull, intermittent unilateral low back pain during the past 3 years. METHODS AND MEASURES: The patients was a 35-year-old man with recurrent unilateral low back pain. The findings of the physical therapy examination suggested sacroiliac joint dysfunction. Also, evaluation later showed evidence of unilateral excessive foot pronation on the same side of the excessive hip lateral rotation. The finding of excessive hip lateral rotation and excessive foot pronation on the same side of the unilateral low back pain suggested a possible connection between low back symptoms, hip, and lower extremity dysfunction. RESULTS: The treatment of the hip and the subtalar joint of the foot eliminated the reoccurrence of the patients signs and symptoms of sacroiliac joint dysfunction. CONCLUSIONS: This case report demonstrates the successful treatment of a patient with low back pain who exhibited multiple impairments in the sacroiliac, hip, and subtalar joints.

Clinical usefulness of a cluster of sacroiliac joint tests in patients with and without low back pain.

STUDY DESIGN: Observation to examine the clinical usefulness of a cluster of sacroiliac joint tests. OBJECTIVES: To find the sensitivity, specificity, and positive and negative predictive values (4 commonly used epidemiologic measures) for a cluster of sacroiliac joint tests in a group of subjects with and without low back pain. BACKGROUND: Sacroiliac joint testing is commonly used by orthopaedic physical therapists in the evaluation of patients with low back pain. METHODS AND MEASURES: Two hundred nineteen patients who either were being treated for low back pain or were being treated for some other condition not related to the low back participated in the study. The diagnosis of low back pain was obtained from the physician's prescription, which included low back strain, low back pain, or sacroiliac joint dysfunction, and the patient's pain drawing. RESULTS: The results were a finding of 0.82 for sensitivity, 0.88 for specificity, 0.86 for positive predictive value of a test, and 0.84 for negative predictive value of the cluster of tests. CONCLUSIONS: The results of this study show that using a cluster of sacroiliac joint tests can be useful in identifying sacroiliac joint dysfunction in patients with low back pain.

Unilateral hip rotation range of motion asymmetry in patients with sacroiliac joint regional pain.

STUDY DESIGN: A cross-sectional study was used to determine whether limited range of motion in the hip was present in 100 patients--one group with unspecified low back pain and another group with signs suggesting sacroiliac joint dysfunction. OBJECTIVES: To determine whether a characteristic pattern of range of motion in the hip is related to low back pain in patients and to determine whether such a pattern is associated with and without signs of sacroiliac joint dysfunction. SUMMARY OF BACKGROUND DATA: The sacroiliac joint is often considered a potential site of low back pain. Problems with the sacroiliac joint, as well as with the low back, have often been related to reduced or asymmetric range of motion in the hip. The correlation between sacroiliac joint dysfunction and hip range of motion, however, has not been thoroughly evaluated with reliable tests in a population of patients with low back pain. METHODS: Passive hip internal and external rotation goniometric measurements were taken by a blinded examiner, while a separate examiner evaluated the patient for signs of sacroiliac joint dysfunction. Patients with sacroiliac joint dysfunction were further classified as having a left or a right posteriorly tilted innominate. RESULTS: The patients with low back pain but without evidence of sacroiliac joint dysfunction had significantly greater external hip rotation than internal rotation bilaterally, whereas those with evidence of sacroiliac joint dysfunction had significantly more external hip rotation than internal rotation unilaterally, specifically on the side of the posterior innominate. CONCLUSIONS: Clinicians should consider evaluating for unilateral asymmetry in range of motion in the hip in patients with low back pain. The presence of such asymmetry in patients with low back pain may help identify those with sacroiliac joint dysfunction.

Relative effectiveness of an extension program and a combined program of manipulation and flexion and extension exercises in patients with acute low back syndrome.

BACKGROUND AND PURPOSE: The relative effectiveness of an extension program and a manipulation program with flexion and extension exercises was examined in patients with low back syndrome. SUBJECTS: Forty-nine patients with less than a 3-month history of low back pain were seen at physical therapy clinics in western Pennsylvania, southern Mississippi, and eastern Missouri during a 6-month period. Twenty-seven of the 49 patients were classified a priori into a treatment-oriented category of extension/mobilization and were then randomly assigned to participate in an extension program or a program of manipulation followed by hand-heel rocks (flexion and extension). Two patients dropped out of the study (1 patient returned to work, and the other patient was unable to comply with the treatment schedule), and 1 patient was eliminated from the study because of magnified illness behavior. The remaining 24 patients (15 male, 9 female; mean age = 44 years, SD = 15, range = 14-73) were assigned randomly and equally to the two groups. Eight physical therapists participated in the study. METHODS: A randomized clinical trial comparing the two regimens was conducted for a 1-week period. Outcome was assessed using an Oswestry Low Back Pain Questionnaire initially (before treatment) and at 3 and 5 days posttreatment, and data were analyzed using a 2 x 3 (group x time) analysis of variance. RESULTS: A significant interaction of the group and time variables was demonstrated, indicating that the rate of positive response was greater in the manipulation/hand-heel rock group than in the extension group. CONCLUSION AND DISCUSSION: In this category of patients with low back pain, the use of manipulation as an adjunct to an ongoing exercise program appears to be warranted.

Shin splints and forefoot contact running: a case report.

Many athletes develop shin splints after athletic activity. The purpose of this case report is to describe the treatment of a patient with posteromedial tibial pain (shin splints) who habitually ran with a forefoot contact running style. The 20-year-old male patient, who played volleyball and basketball about 7 hours a week, complained of pain in the middle one-third of the posteromedial tibia after an acute but prolonged episode of running. Routine observational analysis and in-shoe pressure analysis of the patient's running style showed that he habitually ran on his toes with an absence of heelstrike (forefoot contact running). After instructing the patient on heel-toe running, he no longer complained of posteromedial tibial bone pain. Several possible reasons are proposed for the reduction of leg pain following cessation of forefoot contact running. This case report proposes forefoot contact running as a possible contributor to posteromedial shin splints and that a change in running style may be the optimal treatment for some patients.

Evidence for use of an extension-mobilization category in acute low back syndrome: a prescriptive validation pilot study.

BACKGROUND AND PURPOSE: The prescriptive validity of a treatment-oriented extension-mobilization category for patients with low back syndrome (LBS) was examined. SUBJECTS: Of a total of 39 patients with LBS referred for physical therapy, 24 patients (14 male, 10 female), aged 14 to 50 years (means = 31.3, SD = 11.6), were classified as having signs and symptoms indicating treatment with an extension-mobilization approach. The remaining subjects were dismissed from the study. Patients in the extension-mobilization category were randomly assigned to either an experimental (treatment) group (n = 14) or a comparison group (n = 10). METHODS: The experimental and comparison group subjects were treated with either mobilization and extension (a treatment matched to the category) or a flexion exercise regimen (an unmatched treatment). Outcome was assessed with a modified Oswestry Low Back Pain Questionnaire administered initially and at 3 and 5 days after initiation of treatment. Data were analyzed with a 2 x 3 (treatment group x treatment period) analysis of variance. RESULTS: The subjects' rate of improvement, as indicated by the Oswestry questionnaire scores, was dependent on the treatment group to which they were assigned. Subjects treated with extension and mobilization positively responded at a faster rate than did those treated with a flexion-oriented program. CONCLUSION AND DISCUSSION: This study illustrates that a priori classification of selected patients with LBS into a treatment category of extension and mobilization and subsequently treating the patients accordingly with specified interventions can be an effective approach to conservative management of selected patients.

A comparison of two different methods to treat hip pain in runners.

Little or no research has been performed on the physical therapy treatment of hip pain. The purpose of this study was to compare two different treatments for hip pain. Twenty runners who had primary hip pain and sacroiliac joint dysfunction, without evidence of arthritic changes, were randomly assigned to two groups. One group received a mobilization technique to the involved hip, while the other was treated with a manipulative technique known to affect sacroiliac joint dysfunction. The subjects were evaluated by using a pain questionnaire and the Faber test to determine the response of the hip joint to treatment. Data were analyzed with the Mann-Whitney U statistic for perceived pain response and with the Chi-square statistic with Yates correction for the Faber test. Results showed a significant difference in perceived pain response, as well as reproduction of pain with the Faber test, between the two groups. The results suggest that a manipulative technique designed to reduce sacroiliac joint dysfunction is an effective method to reduce hip pain. Physical therapists should evaluate the sacroiliac joint in patients with hip pain.

The treatment of the sacroiliac joint component to low back pain: a case report.

This case report describes the treatment of a patient who had symptoms and signs suggestive of a sacroiliac joint component of low back pain. The patient developed right-sided low back pain without provocation. He appeared to have sacroiliac joint dysfunction, excessive right hip lateral rotation, and limited right hip medial rotation. The patient's habit of crossing his right leg over his left leg while sitting was believed to have contributed to the excessive lateral hip rotation. After treating the sacroiliac joint and restoring symmetrical hip rotation, the patient no longer complained of low back pain. This case report suggests that asymmetrical hip rotation may contribute to what is often called a sacroiliac joint component of low back pain.

Management of a patient with forefoot pain: a case report.

A 16-year-old high school track athlete developed forefoot pain near the end of track season. He developed pain around the metatarsophalangeal joint of his ballux, with pain mostly during propulsion. On examination, he exhibited limited dorsiflexion of the first metatarsophalangeal joint. Treatment for the restricted metatarsophalangeal joint was aimed at restoring normal motion. After five sessions of mobilizing the restricted metatarsophalangeal joint, the patient was able to return to track without complaint. This case report demonstrates the importance of metatarsophalangeal joint dorsiflexion in the management of forefoot pain.