Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant nerve disease usually caused by 1,5 Mb deletion on chromosome 17p11.2.2-p12, the region where the PMP-22 gene is located. The patients with HNPP usually have relapsing and remitting entrapment neuropathies due to compression. We present a 14-year-old male who had acute onset, right-sided ulnar nerve entrapment at the elbow. He had electrophysiological findings of bilateral ulnar nerve entrapments (more severe at the right side) at the elbow and bilateral median nerve entrapment at the wrist. Genetic tests of the patient demonstrated deletions in the 17p11.2 region. The patient underwent decompressive surgery for ulnar nerve entrapment at the elbow and completely recovered two months after the event. Although HNPP is extremely rare, it should be taken into consideration in young adults with entrapment neuropathies.     

Expression and cellular distribution of multidrug resistance-related proteins in patients with focal cortical dysplasia.

Recent arouse of interest indicated that drug resistant proteins are markedly over-expressed in the epileptogenic tissue and they may be responsible for the one-third of the epileptic patients who were refractory to anti-epileptic drugs (AEDs). Since several AEDs may act as substrates for these drug resistant proteins, the enhanced function of such proteins may increase drug extrusion, resulting in inadequate response to drug therapy in patients with epilepsy. We studied expression of the multidrug resistance protein 1 (MDR1) and multidrug resistance-associated protein 1 (MRP1) in the epileptic tissues resected surgically in 28 patients with focal cortical dysplasia (FCD) by immunohistochemistry. The results were compared with 10 normal necropsy brain tissues. Normal brain showed no MDR1 expression in neurons and astrocytes, while MRP1 expression was very weak, which were encountered in a few samples. MDR1 expression was mainly localized on the vascular endothelial cells. In contrast to normal brain, we found intense MDR1 and MRP1 expression in both neurons and reactive astrocytes in the vast majority of dysplastic tissues. The majority of the dysplastic neurons demonstrated moderate to strong MRP1 immunoreactivity. Endothelial cells showed both MDR1 and MRP1 expression in the majority of the specimens studied. Multidrug transporters are over-expressed in the epileptogenic zone in patients with FCD. These results are concordant with previous studies, in which over-expression of multidrug proteins were shown in epileptogenic brain tissue in patients with FCD, that the over-expression of drug transport proteins in tissue from patients with refractory epilepsy may explain one possible mechanism for drug resistant in these pathologies.     

Correlative study of the cognitive impairment, regional cerebral blood flow, and electroencephalogram abnormalities in children with Down's syndrome

The aim of this study was to investigate possible correlations of the cognitive impairment with abnormalities of regional cerebral blood flow and electroencephalogram in children with (Down's Syndrome) DS. Nine patients with DS were evaluated by single photon emission computed tomography (SPECT) in combination with clinical findings, electroencephalography (EEG), and magnetic resonance imaging (MRI). In cases with IQs below 40, there were one or more findings of abnormal EEG/MRI and brain perfusion SPECT. In 6 cases (66.7%) EEG findings were normal, but 3 (33.3%) had abnormal EEG findings. Perfusion abnormalities were most pronounced in the fronto-parieto-temporal region in the form of hypoperfusion (n = 5) and in the right hemisphere (n = 5) than the left hemisphere (n = 1). These findings suggest that the children with DS had varying levels of structural, perfusion, and electrophysiological abnormalities in the brain and these abnormalities were reflected by measurable alterations of the cognitive functions.     

Clinical utility of dorsal sural nerve conduction studies in healthy and diabetic children.

OBJECTIVE: Monitoring of the dorsal sural sensory nerve action potential (SNAP) is a sensitive method for detection of peripheral neuropathies. We tried to determine the normal dorsal sural nerve conduction values of the childhood population and assessed the clinical utility of this method in diabetic children who have no clinical sign of peripheral neuropathy. METHODS: In the study, 36 healthy and 27 diabetic children were included. In all subjects peripheral motor and sensory nerve studies were performed on the upper and lower limbs including dorsal sural nerve conduction studies. RESULTS: The dorsal sural SNAP mean amplitude was 8.24+/-3.08 microV, mean latency was 2.47+/-0.48 ms, mean sensory conduction velocity was 41.63+/-5.43 m/s in healthy children. Dorsal sural SNAPs were absent bilaterally in one diabetic patient. In the other 26 diabetic patients, the mean dorsal sural nerve distal latency was longer (2.93+/-0.63 ms, P = 0.004), mean SCV was slower than in healthy subjects (36.68+/-7.66 m/s, P = 0.005). However, dorsal sural nerve amplitude was not different between the groups. A dorsal sural nerve latency of more than 2.9 ms had a sensitivity of 50% and a specificity of 75%. A dorsal sural nerve velocity of less than 36 m/s had a sensitivity of 54% and a specificity of 92%. CONCLUSIONS: We designated the reference values of the dorsal sural nerve in healthy children. In addition, our findings suggest that dorsal sural nerve conduction studies may have value to determine neuropathy in the early stages in children with diabetes. SIGNIFICANCE: The dorsal sural nerve conduction studies in diabetic children may have value to determine the neuropathy in its early stages.     

Prolonged hyperglycemia in the early subacute period after cerebral infarction: effects on short term prognosis

Although the adverse effect of admission hyperglycemia in cerebral infarction on prognosis is well known, studies generally have not questioned the effect of hyperglycemia in the early subacute period on prognosis after a stroke. Forty-six patients with acute ischemic stroke were seperated into 3 groups: Group 1) Known diabetes or admission blood glucose (ABG) > or = 140 mg/dl and HbA1c > or = 8,0%); Group 2) ABG > or = 140 mg/dl and HbA1c < 8,0%; and Group 3) ABG < 140 mg/dl and HbA1c < 8,0%. Blood glucose was followed-up 4 times a day for 10 days after the stroke and the mean of these measurements was calculated as the mean of glycemic regulation (MGR). Neurological evaluation was done at presentation and on day 10 and 30 with the National Institute of Health (NIH) scale. Oedema, lesion size and presence of hemorrhagic transformation were evaluated using CT. The MGR was significantly higher in group 1 compared to the other two groups (p < 0,001 and p < 0,01) and in group 2 compared to group 3 (p < 0,001). Patients with clinical worsening had a significantly higher MGR (p < 0,05). Patients with marked cerebral edema had a significantly higher MGR (p < 0,01) compared to patients with lesser edema. No correlation was found between MGR and lesion size or hemorrhagic transformation. Our results show that hyperglycemia in the early subacute period after cerebral infarction is associated with more pronounced cerebral edema and has an adverse effect on short term prognosis. We suggest that studies investigating the effect of insulin infusion on stroke prognosis should also consider infusions for a longer period than 24 hours.     

Assessment of Left Ventricular Systolic Synchronization in Patients with Chronic Kidney Disease and Narrow QRS Complexes

Objective: The evidence of structural and functional cardiac abnormalities has been demonstrated by echocardiography in patients with chronic kidney disease (CKD). This study investigated whether left ventricular (LV) asynchrony is present in patients with CKD and normal QRS duration. Methods: Tissue synchronization imaging (TSI) was performed in 25 (56 ± 14 years) patients with CKD and narrow QRS complexes and 25 (51 ± 12 years) control subjects. LV asynchrony was identified on TSI images and the time to regional peak systolic velocity (Ts) in LV was measured by the six-basal–six-midsegmental model. Four TSI parameters of systolic asynchrony were computed when Ts was measured in ejection phase. Results: The standard deviation of Ts of 12 LV segments (33.6 ± 17.8 vs 16.7 ± 10 ms, P = 0.0001), standard deviation of Ts of the six basal LV segments (30 ± 20 vs 17.6 ± 9.6 ms, P = 0.008), maximal difference in Ts between any two of the 12 LV segments (102 ± 45 vs 54 ± 32 ms, P = 0.0001), and maximal difference in Ts between any two of the six basal LV segments (78 ± 50 vs 46 ± 22 ms, P = 0.007) were prolonged in patients with CKD compared with controls. The prevalence of LV systolic asynchrony was significantly higher in patients with CKD compared with controls (44% vs 12%, P = 0.01). The standard deviation of Ts of 12 LV segments were significantly associated with LV diameters, LV volumes, LV mass, blood pressure levels, and renal functions in univariate analysis. Conclusion: The results of this study indicate that LV systolic asynchrony may develop in patients with CKD.     

Myocardial perfusion is preserved in patients with psoriasis without clinically evident cardiovascular disease

Background  Psoriasis is associated with a premature atherosclerosis due to the chronic inflammatory process. To evaluate the effect of disease process on myocardial perfusion, we planned to perform 99mTc-MIBI myocardial perfusion single photon emission computed tomography (SPECT) in patients with psoriasis.
Methods  The study group consisted of 28 psoriasis patients (17 men, 11 women), aged 18-76 years, and mean age 41.2 ± 14.1 years. The patients were selected among those who were older than 18 years and longer than 10 years of disease duration with more than two times of systemic treatment. All patients underwent 99mTc-MIBI myocardial perfusion SPECT with the same day protocol.
Results  We detected various risk factors including smoking habits in 7, family history of cardiovascular disease in 4, hypertension in 1, hyperlipidemia in 9 patients. We completed myocardial perfusion SPECT for each patient and found normal perfusion pattern in SPECT images.
Conclusion  We detected that myocardial perfusion is preserved in the patients with psoriasis. The majority of acute heart attacks are caused by noncritical coronary stenosis and this may be an explanation for increased cardiovascular risk in these patients despite normal coronary perfusion.     

DLQI scores in patients with keloids and hypertrophic scars: a prospective case control study

Background: Keloids and hypertrophic scars (HTS) can cause functional impairment and psychosocial burdens, both of which affects quality of life (QoL). Our aim was to compare Dermatology Life Quality Index (DLQI) scores in patients with keloids and HTS to those of psoriasis patients and normal controls. Patients and Methods: Forty‐eight consecutive patients with keloids and HTS and 48 with psoriasis vulgaris attending our dermatology outpatient clinic, as well as 48 sex‐ and age‐matched healthy controls completed the DLQI. Results: Total DLQI scores of patients with keloids and HTS (7.79 ± 5.10) and psoriasis (8.73 ± 5.63) were comparable and significantly higher than that of healthy controls (0.58 ± 0.77). No significant difference were found between patients with psoriasis and patients with keloids and HTS in terms of the total DLQI scores and the subscale scores (p > 0.05) except “treatment” (p < 0.05) sub‐scale scores which were higher in psoriasis. Conclusions: The QoL of patients with keloids and HTS is impaired as much as that of those with psoriasis. The DLQI questionnaire is a reliable and valid instrument for assessing the QoL in patients with keloids and HTS.