Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report.

In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In the paper, a 31-year-old young stroke female patient with the coexistence of neurofibromatosis and MTHFR C677T gene mutation was presented.

The effect of etanercept on a case of amyloidosis secondary to ankylosing spondylitis: results of 2-year follow-up.

Secondary amyloidosis (type AA) is rarely encountered but can be a significant complication of ankylosing spondylitis (AS) and may lead to proteinuria and renal dysfunction. Anti-tumor necrosis factor-alpha (anti-TNFα) agents may be used to induce clinical remission by suppressing systemic inflammation in secondary amyloidosis. The patient described , with the diagnosis of AS, was diagnosed with secondary amyloidosis, despite treatment with disease modifying anti-rheumatic medication. He developed marked proteinuria, renal dysfunction and low levels of serum albumin. Diagnosis of amyloidosis was confirmed by renal biopsy. During a 2-year treatment period with etanercept, an anti-TNFα agent, a definite improvement was determined in all parameters. This case illustrates that in the treatment of secondary amyloidosis related to AS, etanercept, an anti-TNF α agent, can be considered an effective therapeutic option.

Evaluation of sexual dysfunction in women with rheumatoid arthritis: a controlled study.

OBJECTIVE: To evaluate sexual function in women with rheumatoid arthritis (RA) and compare them with healthy controls. MATERIALS AND METHODS: Ninety-five patients with RA and 108 healthy controls were included in the study. Depression levels and sexual functions of all participants were evaluated by the Beck Depression Inventory (BDI) and Index of Female Sexual Function (IFSF), respectively. Morning stiffness in women with RA, pain (Visual Analog Scale--VAS), disability rate (Health Assessment Questionnaire--HAQ), and disease activity score (DAS-28) were defined. RESULTS: Total IFSF and mean of IFSF subgroup scores and significance of sexual life score were lower in patients with RA than controls, whereas mean BDI score was higher. The mean of the total IFSF scores was significantly lower in patients with RA with BDI≥17 than that of patients with BDI<17. The mean of the total IFSF score decreased as disease severity increased. There was a strong negative correlation between total IFSF and DAS-28 scores, a moderate negative correlation between total IFSF score and HAQ, BDI, VAS score, age, and morning stiffness, and weak negative correlation between total IFSF and body mass index. CONCLUSION: RA is observed to have negative effects on sexual functions of women. Presence of depressive symptoms with RA and increased disease severity increase the degree of sexual dysfunction. Women patients with RA should also be asked about their sexual lives while being evaluated.

The effects of fibromyalgia syndrome on female sexuality: a controlled study.

INTRODUCTION: Fibromyalgia may have negative effects on sexual function in women. AIMS: To evaluate the sexuality of women with fibromyalgia and healthy control subjects, and to investigate the relation between sexuality and clinical parameters of fibromyalgia. MAIN OUTCOME MEASURES: Female Sexual Function Index (FSFI), Tender Points Count (TPC), Beck Depression Inventory (BDI), Fibromyalgia Impact Questionnaire (FIQ), and Visual Analog Scale (VAS). METHODS: Clinical evaluation and surveys were done with 126 women with fibromyalgia and 132 healthy women. RESULTS: Patients with fibromyalgia had higher BDI scores and lower frequency of sexual intercourse than control subjects. The mean FSFI scores (total and all domains) were significantly lower in patients with fibromyalgia than control subjects. Mean FSFI scores (total and most domains) were significantly lower in patients with fibromyalgia who had BDI score≥17 than those who had BDI score<17. In women with fibromyalgia, a significant negative correlation was noted between total FSFI score, and both FIQ and BDI scores. CONCLUSIONS: Fibromyalgia has negative effects on female sexual function that are aggravated by depression.

Dynamic Doppler evaluation of the radial and ulnar arteries in patients with carpal tunnel syndrome.

OBJECTIVE: The objective of our study was to evaluate the blood flow characteristics of the radial and ulnar arteries of the hands of patients with carpal tunnel syndrome (CTS) either in the neutral position or in provocative positions using color Doppler imaging. SUBJECTS AND METHODS: Subjects with relevant complaints of CTS and positive Tinel sign and/or Phalen maneuver were recruited. Nerve conduction studies were performed to confirm the diagnosis of CTS. Forty-four hands of 22 patients with CTS (bilateral involvement) and 24 hands of 12 healthy volunteers were included in the study. Pulsed and color Doppler evaluations with the hands in the neutral, Phalen, and reverse Phalen positions were performed of the radial and ulnar arteries using a 5-13-MHZ linear-array transducer (Logiq 9). RESULTS: All of the CTS patients and control subjects were women; their mean ages were 50.77 ± 7.69 (SD) and 46.42 ± 4.32 years, respectively. When hands were evaluated in the neutral position, the flow volume, peak systolic velocity, end-diastolic velocity, and diameter values of both the radial and ulnar arteries were significantly greater in patients with CTS than in control subjects (all p < 0.05). When compared with the measurements obtained with hands at the neutral position, the decreases in the amount of blood flow during the Phalen and reverse Phalen maneuvers were significantly greater in the CTS group than the control group. The amount of blood flow decrease was not correlated with the disease duration. CONCLUSION: Blood flow in the hands of CTS patients differs from that of healthy individuals both at rest and during certain hand movements. Future studies, also with simultaneous monitoring of sympathetic innervation, could be beneficial to confirm the association between blood flow and the sympathetic nerves of the hand.

Feeding and gastrointestinal problems in children with cerebral palsy.

The aim of our study was to identify feeding and gastrointestinal system (GIS) problems in children with cerebral palsy (CP), and to evaluate the relationship between these problems and the severity of CP. A total of 120 children with CP were enrolled consecutively into the study (67 males, 53 females; mean age: 6.0±2.4 years; range: 2-12 years). The children were classified according to the Swedish classification as diplegic, hemiplegic, or quadriplegic. Severity of CP was classified based on the Gross Motor Function Classification System. The amount of time that the caregiver allocated to mealtimes, modifications of the food, as well as feeding and GIS problems was evaluated. Feeding dysfunction was classified as mild, moderate, or severe. Comparisons of GIS and feeding disorders and the severity of CP were carried out using χ test. The results indicated lack of appetite in 46 of the 120 children (38.3%), sialorrhea in 37 (30.8%), constipation in 30 (25%), difficulty in swallowing in 23 (19.2%), and feeding dysfunction in 26 (21.7%). On the basis of the Gross Motor Function Classification System (GMFCS), the incidence of GIS problems and feeding dysfunction was found to be significantly higher in the children classified in the severe group. The time taken to consume meals was significantly longer among children with feeding dysfunction. Feeding and GIS problems are frequent in children with CP, and more marked in those with severe CP. Approximately one fourth of children with CP suffer from feeding dysfunction, and more time has to be allocated to consume meals.

Risk factors and clinical profiles in Turkish children with cerebral palsy: analysis of 625 cases.

The aim of the study was to investigate risk factors, clinical profiles and gross motor function levels of Turkish children with cerebral palsy (CP). A total of 625 consecutive children with CP, who were rehabilitated in the pediatrics rehabilitation clinic between 2000 and 2004 years, were included. Factors causing CP were investigated by interviewing the families and by scanning medical files. Risk factors were recorded as consanguineous marriage, maternal disorder, preterm birth, birth asphyxia, low birth weight, multiple pregnancy, neonatal convulsion, kernicterus, postnatal central nervous system infection and brain injury. Swedish classification was followed in CP typing. Of 625 children with CP, 370 (59.2%) were males and 255 (40.8%) were females, with ages ranging between 2 and 13 years (the mean age was 5.11+/-2.19 years). It was determined that 47.8% of the cases were spastic diplegic CP, 27.7% were spastic tetraplegic CP, 12.8% spastic hemiplegic CP and 11.7% were other types (ataxic, dyskinetic and mixed CP types). The most frequently encountered risk factors were low birth weight (45.1%), preterm birth (40.5%), birth asphyxia (34.6%) and consanguineous marriage (23.8%). Low birth weight, preterm birth, birth asphyxia and consanguineous marriage were top-ranked risk factors that were determined in Turkish children with CP. Compared with other countries, consanguineous marriage is still an important problem in Turkey.

Delayed cervical spinal cord injury after high voltage electrical injury: a case report.

High voltage electrical injuries usually cause devastating consequences for patients, most of which result in permanent disability. Spinal cord injury (SCI) caused by high voltage electrical injury is uncommon in the literature. We present a 29-year-old male patient who was diagnosed as having delayed SCI after high voltage electrical injury. The patient developed muscle weakness in the lower extremities with the loss of pinprick sensation below the fifth cervical spinal segment, 2 days after the high voltage electrical injury. Magnetic resonance imaging of the brain, cervical and thoracic spine was normal. Nerve conduction and needle electromyography studies were normal, except for bilateral tibial and left median somatosensory-evoked potentials. The findings on initial examination and neurophysical investigation showed incomplete cervical SCI at the C5 level. He was able to walk with a pair of canes and bilateral ankle-foot orthosis at the end of the 2-month rehabilitation. Follow-up physical and electrophysiological examination of the patient 15 months after injury showed further improvement. The patient was able to walk with a pair of canes without orthoses. Electrophysiological studies are useful instruments in the diagnosis and follow-up of these patients. Early rehabilitation is essential to obtain a favorable outcome in patients with SCI caused by high voltage electrical injury.

Validity and reliability of the Turkish translation of the Pediatric Evaluation of Disability Inventory (PEDI).

PURPOSE: To investigate the validity and reliability of the Turkish translation of the original Pediatric Evaluation of Disability Inventory (PEDI). METHOD: On May 2003, we received permission from Boston University to translate and use the PEDI for Research purposes. PEDI Functional Skills scale and Caregiver Assistance scale was administered by physiatrists to 573 healthy Turkish children (295 males and 278 females; the age range: 7 months to 7(1/2) years) in two different healthcare centres in Ankara. The Turkish translation of the PEDI was again administered to 102 children after five days in order to assess test-retest reliability. Intraclass correlation coefficients (ICC) and Cronbach's alphas (alpha) were calculated. The test-retest reliability was assessed by Spearman's correlation coefficient. Internal construct validity was assessed by using Rasch unidimensional measurement model. RESULTS: High Cronbach's alpha coefficients (> or =0.98), high ICC values (> or =0.96) and high Spearman correlation coefficients (> or =0.86) were found. The internal construct validity was confirmed by good fit to the Rasch measurement model. The fit statistics conducted in the study was acceptable, except for some items. CONCLUSIONS: The Turkish translation of the PEDI is valid and reliable for the Turkish child population. We believe that PEDI is a detailed and useful instrument for the evaluation of efficiency of pediatric rehabilitation programme.

ADL assessment of nondisabled Turkish children with the WeeFIM instrument.

OBJECTIVE: To evaluate the WeeFIM instrument's reliability and internal construct validity for the Turkish child population. DESIGN: License was taken from UDSmr to use the WeeFIM instrument. For the reliability and validity studies of the Turkish translation of the WeeFIM instrument, 573 Turkish nondisabled children were included in the study. The reliability of the instrument was assessed by Cronbach's alpha coefficient, intraclass correlation coefficient (ICC), and test-retest reliability. Internal construct validity was assessed by both using Rasch unidimensional measurement model and testing for differential item functioning for age and gender. RESULTS: Cronbach alpha value was 0.99 for motor WeeFIM rating and 0.99 for cognitive WeeFIM rating. ICC was 0.81 for motor WeeFIM rating and 0.92 for cognitive WeeFIM rating. The internal construct validity of the Turkish translation of the WeeFIM instrument was confirmed by excellent fit to the Rasch measurement model. Two subscales were found from the principal component analysis of standardized residual correlation for items. Among the items, bowel management, bladder management, eating, and comprehension showed considerable levels of misfit. CONCLUSIONS: The Turkish translation of the WeeFIM instrument is valid, reliable, and practical for the Turkish child population. Further studies are required to determine the cross-cultural validity of the instrument.

Acute ulnar neuropathy at the wrist: a case report and review of the literature.

Acute ulnar neuropathy at the wrist is an extremely uncommon condition, at times requiring a high index of suspicion for the diagnosis. Clinical presentations of ulnar nerve lesions at the wrist and hand show variations due to the complex anatomic course of the nerve in distal sites. We report a case of acute ulnar neuropathy at the wrist caused by a ganglion in Guyon's canal, being initially misinterpreted as flexor tenosynovitis. The accurate diagnosis of selective distal motor neuropathy of ulnar nerve was made electrophysiologically. Magnetic resonance imaging revealed a well defined soft tissue mass consistent with a ganglion, compressing the ulnar nerve in Guyon's canal. Entrapment neuropathies are one of the common conditions handled by physiatrists. Ulnar nerve lesions at the wrist should be kept in mind in the differential diagnosis of patients with wrist or hand pain. Magnetic resonance imaging is a useful method in the anatomical evaluation of acute focal neuropathies.