Unanswered questions in friedreich ataxia

During the past 15 years, the pace of research advancement in Friedreich ataxia has been rapid. The abnormal gene has been discovered and its gene product characterized, leading to the development of new evidence-based therapies. Still, various unsettled issues remain that affect clinical trials. These include the level of frataxin deficiency needed to cause disease, the mechanism by which frataxin-deficient mitochondrial dysfunction leads to symptomatology, and the reason selected cells are most affected in Friedreich ataxia. In this review, we summarize these questions and propose testable hypotheses for their resolution.     

Diagnostic value of salivary gland ultrasonography for Sjӧgren's syndrome in patients with sicca symptoms

Aim of the work

To assess the diagnostic value of salivary gland ultrasonography (SGUS) for Sj?gren's syndrome (SS) and to compare it with minor salivary gland biopsy (MSGB) in patients with sicca symptoms.

Ultrasound-guided injection of carpal tunnel syndrome: A comparative study to blind injection

Background

Carpal tunnel syndrome (CTS) is the most common upper limb neuropathy with increasing incidence especially among females, having a high economic and social impact on patients. CTS can be treated either with conservative measures or surgically. Steroid injection, as a conservative treatment, could be carried out using anatomical landmarks or via ultra-sonographic guidance.

Serum mannan-binding lectin in egyptian patients with chronic hepatitis C: its relation to disease progression and response to treatment

Background

Chronic hepatitis C virus (HCV) infection is a major worldwide public health problem. Egypt has the highest prevalence of adult HCV infection in the world, averaging 15%–25% in rural communities. Mannan-binding lectin (MBL) is a liver-derived pluripotent serum lectin that plays a role in the innate immune system of the host. It is an acute-phase protein that is involved in the activation of the classical complement pathway. MBL may play a defensive role in HCV infection.

Objectives

To investigate the relationship between MBL concentration and HCV infection in Egyptian patients suffering chronic hepatitis C.

Patients and Methods

Serum samples obtained from 35 Egyptian hepatitis C patients and 30 normal controls were assayed for MBL. MBL concentrations were correlated to disease characteristics and treatment response.

Results

Serum MBL was significantly higher in HCV patients than in controls, but no relationship was found between MBL concentration and disease progression in terms of hepatic fibrosis and inflammation. Responders to interferon (INF)-based therapy had significantly higher serum MBL than non-responders.

Conclusions

We found no association between serum MBL concentration and progression of HCV related liver disease. Responders to INF-based therapy had significantly higher serum MBL than non-responders.     

Laparoendoscopic Single-Site Surgery for Management of Ovarian Endometriomas

Background and Objectives:

To compare our initial experience in laparoscopic surgery for ovarian endometriomas performed through an umbilical incision using a single 3-channel port and flexible laparoscopic instrumentation versus traditional laparoscopy.

Methods:

This study was conducted in 3 tertiary care referral centers. Since September 2009, we have performed laparoendoscopic single-site surgery in 24 patients diagnosed with ovarian endometriomas. A control group of patients with similar diagnoses who underwent traditional operative laparoscopy during the same period was included (n = 28). In the laparoendoscopic single-site surgery group, a multichannel port was inserted into the peritoneum through a 1.5- to 2.0-cm umbilical incision.

Results:

Patients in the laparoendoscopic single-site surgery group were significantly older (P = .04) and had a higher body mass index (P = .005). Both groups were comparable regarding history of abdominal surgery, lateral pelvic side wall involvement, and cul-de-sac involvement. After we controlled for age and body mass index, the size of the resected endometriomas, duration of surgery, and amount of operative blood loss were comparable in both groups. When required, an additional 5-mm port was inserted in the right or left lower quadrant in the laparoendoscopic single-site surgery group to allow the use of a third instrument for additional tissue retraction or manipulation (10 of 24 patients, 41.6%). However, adhesiolysis was performed more frequently in the conventional laparoscopy group. The duration of hospital stay was <24 hours in both groups. No intraoperative complications were encountered. All incisions healed and were cosmetically satisfactory.

Conclusion:

The laparoendoscopic single-site surgery technique is a reasonable initial approach for the treatment of endometriomas. In our experience, an additional side port is usually needed to treat pelvic side wall and cul-de-sac endometriosis that often accompanies endometriomas.     

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

Three siblings with metachromatic leukodystrophy underwent umbilical cord blood transplantation at different stages of disease. Neuroimaging, nerve conduction studies, neurological examinations, and neuropsychological examinations were used to measure outcome over 2 years. After transplant, the oldest sibling experienced disease progression. His two siblings had near or total resolution of signal abnormalities on neuroimaging. Their neuropsychological testing remained stable, and nerve conduction studies have shown improvement. These results indicate pretransplantation neurological examinations may be the most significant predictor of outcome after transplant. To our knowledge, this report is the first to document neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplantation. Ann Neurol 2008;64:583–587     

Clinical review: Goal-directed therapy-what is the evidence in surgical patients? The effect on different risk groups

Patients with limited cardiac reserve are less likely to survive and develop more complications following major surgery. By augmenting oxygen delivery index (DO₂I) with a combination of intravenous fluids and inotropes (goal directed therapy (GDT)), postoperative mortality and morbidity of high-risk patients may be reduced. However, although most studies suggest that GDT may improve outcome in high-risk surgical patients, it is still not widely practiced. We set out to test the hypothesis that GDT results in greatest benefit in terms of mortality and morbidity in patients with the highest risk of mortality and have undertaken a systematic review of the current literature to see if this is correct. We performed a systematic search of Medline, Embase and CENTRAL databases for randomized controlled trials (RCTs) and reviews of GDT in surgical patients. To minimize heterogeneity we excluded studies involving cardiac, trauma, and paediatric surgery. Extremely high risk, high risk and intermediate risks of mortality were defined as >20%, 5 to 20% and <5% mortality rates in the control arms of the trials, respectively. Meta analyses were performed and Forest plots drawn using RevMan software. Data are presented as odd ratios (OR; 95% confidence intervals (CI), and P-values). A total of 32 RCTs including 2,808 patients were reviewed. All studies reported mortality. Five studies (including 300 patients) were excluded from assessment of complication rates as the number of patients with complications was not reported. The mortality benefit of GDT was confined to the extremely high-risk group (OR = 0.20, 95% CI 0.09 to 0.41; P < 0.0001). Complication rates were reduced in all subgroups (OR = 0.45, 95% CI 0.34 to 0.60; P < 0.00001). The morbidity benefit was greatest amongst patients in the extremely high-risk subgroup (OR = 0.27, 95% CI 0.15 to 0.51; P < 0.0001), followed by the intermediate risk subgroup (OR = 0.43, 95% CI 0.27 to 0.67; P = 0.0002), and the high-risk subgroup (OR 0.56, 95% CI 0.36 to 0.89; P = 0.01). Despite heterogeneity in trial quality and design, we found GDT to be beneficial in all high-risk patients undergoing major surgery. The mortality benefit of GDT was confined to the subgroup of patients at extremely high risk of death. The reduction of complication rates was seen across all subgroups of GDT patients.     

Impact of a culturally adapted behavioural family psychoeducational programme in patients with schizophrenia in Egypt

Objective: To study the effect of a culturally adapted, structured family intervention on symptom severity, medication attitudes and knowledge, social functioning and quality of life in patients with schizophrenia.

Methods: Thirty subjects with schizophrenia were selected to receive 14 sessions of a culturally adapted behavioural family psychoeducational programme (BFPEP). Another 30 subjects received standard treatment as usual (STU) for 6 months. Pre- and post-intervention outcomes were assessed using the Positive and Negative Syndrome Scale (PANSS), Drug Attitude Inventory 10-item scale (DAI-10), Quality of Life Scale (QLS) and Social Functioning Questionnaire (SFQ).

Results: There was a no significant difference between BFPEP and STU at baseline on all measures. There was a significant difference (p?<?.05) between pre- and post-treatment scores for BFPEP on all measures, a significant difference (p?<?.05) between pre- and post-treatment scores for STU on all measures (favouring pre-treatment scores) and a significant difference (p?<?.05) favouring BFPEP over STU on all measures post-treatment.

Conclusions: These results demonstrate the feasibility and effectiveness of implementing family therapy psychoeducational interventions in different cultural settings, with relatively minor modifications. This may have implications for mental health policy makers to make available such programmes for patients and mental health professionals.