Wilson’s disease

Wilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.     

Pediatric neurosurgical techniques in the 15th century

The renowned Turkish surgeon Serefeddin Sabuncuo?lu (1385-1468 AD), delineates management of various pediatric neurosurgical diseases such as head trauma, spinal trauma, and intrauterine and infantile hydrocephalus, as well as basic surgical principles in his textbook Cerrahiyyetü'l Haniyye, which consists of three chapters dealing with a variety of surgical specialities. The sections on neurosurgery are still relevant to modern medicine. The book combines previous knowledge of Greek, Roman, Arabic, and Turkish surgery. Today, Sabuncuo?lu is recognized as a pioneer of pediatric neurosurgery.     

DNA methylation or histone modification status in metastasis and angiogenesis-related genes: a new hypothesis on usage of DNMT inhibitors and <Emphasis Type="Italic">S</Emphasis>-adenosylmethionine for genome stability

Metastasis is a leading cause of mortality and morbidity in cancer. This process needs angiogenesis. The biology underlying cancer, metastasis, and angiogenesis has been investigated so as to determine the therapeutic targets. Invasive and metastatic cancer cells have undergone numerous genetic and epigenetic changes, manifested by cytoskeletal changes, loss of adhesion, and expression of proteolytic enzymes that degrade the basement membrane. Additionally, in endothelial cells, some epigenetic modifications occur during the formation of angiogenesis. Researchers have used some methylation inhibitors, histone deacetylase inhibitors, or methylating agents (such as S-adenosylmethionine, SAM) against cancer and angiogenesis. Although they are effective to beat these diseases, each one results in differentiation or changes in genome structure. We review epigenetically modified genes related with angiogenesis and metastasis in cancer and endothelial cells, and suggest a new proposal. This hypothesis has discussed the importance of the usage of DNA methylation inhibitors together with SAM to prevent tumor progression and genome instability or changes resulting in additional diseases.     

Testicular involvement of sarcoidosis diagnosed by gallium-67 scintigraphy

Gallium-67 scintigraphy helped to determine the extent of systemic sarcoidosis and demonstrated testicular involvement in a 32-year-old black man who presented with ataxia, weight loss, and a left testicular mass. To our knowledge, this is the first case of testicular sarcoidosis demonstrated by gallium-67 scintigraphy in a patient with systemic sarcoidosis. Offprint requests to: A. Cahid Civelek     

Arthroscopic meniscal repair using T-fix

We evaluated the arthroscopic meniscal repair using T-fix and present our preliminary results. The series included 47 consecutive patients who underwent meniscal repair using T-fix. Mean follow-up was 26 months (range 12-42 months). The overall number of T-fixes used in the repairs was 163, with a mean of three (range two to five) per patient. Patients were evaluated according to the modified Marshall scoring system. Results were rated as excellent in 32, good in 10, fair in 2, and poor in 3 patients. Second-look arthroscopy was performed in 18 patients as the part of our protocol. In 15 patients meniscal tears were considered to be healed, according to Henning's criteria. Six of those who underwent anterior cruciate ligament reconstruction healed completely. There were no neurovascular complications. Repair of the menisci using T-fix proved successful and reliable. In view of satisfactory functional results and the observation of healing of tears on second-look arthroscopy, we believe that preservation and repair of menisci should be attempted in appropriate cases.     

Possible cause of failure after McCall culdoplasty

Objective  

To evaluate prospectively the rate of postoperative failure of McCall culdoplasty and the presence of a history of vaginal delivery of macrosomic infants as risk factors in patients with stage III or symptomatic stage II apical prolapse without any other pelvic floor defects.     

Evaluation of the neuronal and microvascular components of the macula in patients with diabetic retinopathy

Documenta Ophthalmologica - To investigate whether abnormal retinal microcirculation correlates with retinal neuronal changes in untreated diabetic eyes without macular edema. This study enrolled...     

Methotrexate and misoprostol used alone or in combination for early abortion

The purpose of this study was to compare the outcome and side effects of using the drugs methotrexate and misoprostol, alone or in combination, to induce abortion. A total of 108 subjects who had requested elective termination of pregnancy and medical abortion at 9 weeks gestation or less were randomized into three groups. The first group received 50 mg/m² intramuscular (IM) methotrexate on day 1 and, if the hCG level had risen by >50% of the initial level on day 4, a second dose was given. They were then followed-up at weekly intervals up to day 21. Group 2 received 800 μg vaginal misoprostol on day 1 and, if ultrasound showed a gestational sac on day 4, they received a repeat dose and were re-examined on day 7. Group 3 received 50 mg/m² methotrexate intramuscularly followed 3 days later by 800 μg vaginal misoprostol and were re-examined on day 7. Complete abortion occurred in 25 (69%) of the 36 subjects in group 1, 21 (58%) of the 36 subjects in group 2, and 32 (89%) of the 36 subjects in group 3. The complete abortion rate in group 3 was significantly higher than that of both group 1 and group 2 (p <0.05). The incomplete abortion rate was significantly higher in group 2 as compared with both of the other groups (p <0.05). There were significant differences between the mean gestational age of the successful abortions and the failures in group 1 (no abortion occurred at more than 49 days gestation), but not in groups 2 or 3. Vaginal bleeding in subjects who successfully aborted began within 16 ± 4 days in group 1 after the first dose, and within 24 h in 18 (86%) of the 21 subjects in group 2 and 27 (84%) of the 32 subjects in group 3 after the misoprostol dose. The drugs caused no serious or prolonged side effects. The combination of methotrexate and misoprostol is a more effective abortifacient regimen than when either drug is used alone.