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.     

Role of novel biomarkers of inflammation in patients with stable coronary heart disease

Atherosclerosis is a dynamic chronic inflammatory process, and some inflammatory biomarkers have roles in this process. The levels of C-reactive protein (CRP) in patients with chronic stable coronary heart disease (CHD) have not been investigated well, and the levels of macrophage colony-stimulating factor (M-CSF) and interleukin-3 (IL-3) in patients with chronic stable CHD and the effects of these cytokines on atherogenesis are not known. To determine whether new inflammatory biomarkers have roles in atherosclerosis, the authors measured the levels of CRP, M-CSF, and IL-3 in patients with chronic stable CHD and in healthy controls. They measured plasma CRP concentrations by using a highly sensitive CRP reagent with immunonephelometric method, and plasma M-CSF and IL-3 concentrations with the help of a commercial enzyme-linked immunoassay test in 31 patients with chronic stable CHD documented by coronary angiography and in 22 age-matched healthy control subjects documented by coronary angiography. Mean plasma CRP, M-CSF, and IL-3 concentrations in patients with chronic stable CHD were significantly higher than those in controls (8.2 vs 4.6 mg/L, 195.3 vs 28.9 pg/mL, 173 vs 118 ng/mL, respectively, ppi.05). CRP, M-CSF, and IL-3 were all increased in patients with chronic stable CHD relative to controls. These findings suggest that these are new inflammatory biomarkers that may have important roles in the development of atherosclerotic lesions.     

Metastatic tumors in the breast: a report of 5 cases and review of the literature

Breast cancer is the most common malignancy in women. However, metastases to the breast from nonmammary malignant neoplasms are rare and were detected at a rate of 0.28% in our series. Clinical and pathologic findings in 5 cases of metastatic tumors (malign mesenchymal tumor, squamous cell carcinoma of the tongue, non-Hodgkin lymphoma, and Sézary syndrome) in the breast are presented and discussed with respect to the literature. Detailed clinical history and a multidisciplinary approach are useful in establishing correct diagnosis and preventing unnecessary radical surgery.     

Macular and peripapillary vessel density alterations in a large series of patients with systemic lupus erythematosus without ocular involvement

Graefe's Archive for Clinical and Experimental Ophthalmology - The aim of this study was to investigate changes in both macular and peripapillary retinal microcirculation in the subclinical...     

Acute aortic dissection with painless paraplegia: report of 2 cases

Acute aortic dissection is often a life-threatening event that usually presents as a sudden, severe, exquisitely painful, ripping sensation in the chest or back. There are a few reports of atypical findings or no pain in the literature. We report 2 patients with painless acute aortic dissection who presented to the emergency department (ED) with sudden onset paraplegia.     

Gradual detorsion of torsioned rat testis attenuates ischemia reperfusion injury

Aim

This study was designed to investigate effect of gradual detorsion on testicular ischemia reperfusion injury.

Materials and Methods

A total of 21 male rats were divided into 3 groups, each containing 7 rats. Torsion was created by rotating the left testis 720° in a clockwise direction. Group 1 underwent sham operation. Group 2 (sudden detorsion) served as a torsion/detorsion group, receiving 2 hours torsion and 2 hours detorsion. In group 3, 360° detorsion was done for 20 minutes after 720° torsion for 2 hours. Then, testis was done full detorsion for 100 minutes. At the end of the experiments (fourth hour), left orchiectomy was performed to measure the tissue levels of malondialdehyde (MDA), superoxide dismutase, and glutathione peroxidase and to perform histologic examination in testes.

Results

The MDA levels of testis tissues were significantly increased in the sudden detorsion group as compared with the sham group. We found decrease of the MDA level in gradual detorsion group, but it was not a statistically significant amount. Significant decrease was found in the superoxide dismutase and glutathione peroxidase activities in the sudden detorsion group as compared with the sham and gradual detorsion groups. Histologic examinations were in accordance with the testicular tissue MDA levels.

Conclusion

In the light of our biochemical and histopathologic findings, we can say that gradual detorsion has a trend to decrease the degree of testicular reperfusion injury in the rat torsion/detorsion model.     

Assessment of Quality of Life after Laparoscopic Nissen Fundoplication in Patients with Gastroesophageal Reflux Disease

Background In this study two different quality of life items are compared, and correlation of patient satisfaction with preoperative and postoperative symptoms after laparoscopic Nissen fundoplication (LNF) for chronic gastroesophageal reflux disease is evaluated. Materials and Methods Between December 2002 and December 2004, 60 patients with a diagnosis of chronic gastroesophageal reflux disease scheduled for laparoscopic Nissen fundoplication were recruited prospectively and volunteered to participate in this study. Patients underwent endoscopy, and their disease-specific symptoms were scored on a scale. Quality of life was measured preoperatively and in the first and sixth postoperative months with two questionnaires: Short Form-36 (SF 36) (preoperatively) and the Gastroesophageal Reflux Disease—Health-Related Quality of Life (GERD-HRQL) (postoperatively). Results In more than 90% of the patients, typical symptoms (regurgitation and pyrozis) were controlled postoperatively (p < 0.001). In the first postoperative month, however, dysphagia (early dysphagia) was seen in 46 (76%) patients, whereas in the sixth postoperative month (late dysphagia) its incidence decreased to only 2 (3.3%) patients. Similarly, in the first postoperative month 42 (70%) patients had gas bloating, but the incidence of this symptom decreased to 26 (43.3%) patients by the sixth month (p = 0.01). The quality-of-life measurements obtained from both SF 36 and GERD-HRQL showed that quality of life of the patients improved significantly in the related domain of each item after surgery (p < 0.001). Conclusions Laparoscopic Nissen fundoplication is an effective operation that controls the typical symptoms and improves the quality of life of patients, but new-onset symptoms affect postoperative well-being. For closer evaluation of the benefits of the operation, we need new questionnaires that comprehensively evaluate the symptom spectrum of GERD both preoperatively and postoperatively.     

Infantile digital fibromatosis: late results of two different treatment approaches

Infantile digital fibromatosis is a rare childhood benign tumor that mainly affects digits of hands and feet. Spontaneous regression has been reported, leaving the treatment options of observation or surgery a controversial topic. In this article, two cases of infantile digital fibromatosis treated with different approaches are presented. Observation alone was utilized in the first case. No spontaneous regression was observed after 2 years of follow up. In the second case, extended tumor excision and grafting was the chosen treatment. Recurrence was not observed at the 24th month postsurgery.We believe that to prevent recurrence, the tumor must be widely excised.     

Germ cell tumours in a brother and sister

In familial germ cell tumour cases, a normal chromosomal karyotype pattern is rare. We report the findings of germ cell tumours in two siblings with a normal chromosomal karyotype. One of these patients had dysgerminoma in the right ovary and was treated successfully for this. At present, she is 23 years old and has two daughters. The other patient is a 15-year-old boy, who is the brother of the first patient and has mediastinal embryonal carcinoma. Although ultrasonography of the testes showed irregularity in the shape and non-homogeneity of the parenchyma, histopathological examination was found to be normal at the time of diagnosis. At present, he is doing well and his chemotherapy is continuing. Both of them have a normal chromosomal karyotype, 46, XX and 46, XY, respectively. We suggest that children who have a sibling with germ cell tumour should be carefully assessed for development of another germ cell tumour.