Mitochondrial superclusters influence age of onset of Parkinson's disease in a gender specific manner in the Cypriot population: A case-control study.

BACKGROUND: Despite evidence supporting an involvement of mitochondrial dysfunction in the pathogenesis of some neurodegenerative disorders, there are inconsistent findings concerning mitochondrial haplogroups and their association to neurodegenerative disorders, including idiopathic Parkinson's disease (PD). METHODS: To test this hypothesis for the Greek-Cypriot population, a cohort of 230 PD patients and 457 healthy matched controls were recruited. Mitochondrial haplogroup distributions for cases and controls were determined. Association tests were carried out between mitochondrial haplogroups and PD. RESULTS: Mitochondrial haplogroup U was associated with a reduced PD risk in the Cypriot population. After pooling mitochondrial haplogroups together into haplogroup clusters and superclusters, association tests demonstrated a significantly protective effect of mitochondrial haplogroup cluster N (xR) and supercluster LMN for PD risk only in females. In addition, for female PD cases belonging to UKJT and R (xH, xUKJT) haplogroup, the odds of having a later age of onset of PD were 13 and 15 times respectively higher than the odds for female cases with an H haplogroup. CONCLUSION: Statistically significant associations regarding PD risk and PD age of onset were mostly detected for females thus suggesting that gender is a risk modifier between mitochondrial haplogroups and PD status / PD age of onset. The biological mechanisms behind this gender specificity remain to be determined.

Concurrent appendiceal and umbilical endometriosis: a case report and review of the literature.

INTRODUCTION: Endometriosis affects 3 to 10 percent of women of reproductive age. Most of the time it involves the pelvis; however, sites of endometriosis have been reported almost anywhere in the body. Appendiceal and primary umbilical endometriosis are considered rare loci, making accurate diagnosis elusive. Here we present the case of a 46-year-old woman with concurrent appendiceal and umbilical endometriosis. CASE PRESENTATION: A 46-year-old Greek woman presented with a large mass in the lower abdomen adhering to the surrounding organs. She reported recurrent lower abdominal and pelvic pain and the presence of a dark-blue hard nodule at the umbilicus. She had no previous medical, surgical or gynecological history. Her physical examination and laboratory test results were without any significant findings. The laparotomy revealed a fibromatose uterus adhering to the rectum and a urinary cyst and a palpable mass in the vermiform appendix. A hysterectomy and an appendectomy were performed. The umbilical mass was also excised. Pathology revealed endometriosis of the umbilicus and the appendix. The postoperative period was uneventful and she was discharged. CONCLUSIONS: Endometriosis, although rare, should always be considered in women of reproductive age, presenting with cyclic pain. The diagnosis is, most of the time, difficult and requires a high degree of clinical suspicion. The clinical doctor should be aware that endometriosis can sometimes be multifocal, thus a thorough investigation is required in all cases.

Acute appendicitis secondary to Enterobius vermicularis infection in a middle-aged man: a case report.

INTRODUCTION: Acute appendicitis due to Enterobius vermicularis is very rare, affecting mostly children. Whether pinworms cause inflammation of the appendix or just appendiceal colic has been a matter of controversy. CASE PRESENTATION: A Caucasian 52-year-old man was referred to our Emergency Department with acute abdominal pain in his right lower quadrant. The physical and laboratory examination revealed right iliac fossa tenderness and leukocytosis with neutrophilia. An open appendectomy was performed. The pathological examination showed the lumen containing pinworms. Two oral doses of mebendazole were administered postoperatively. The follow-up to date was without incident and he was free of symptoms one year after the operation. CONCLUSION: The finding of E. vermicularis in appendectomy pathological specimens is infrequent. Parasitic infections rarely cause acute appendicitis, especially in adults.One should keep in mind that the clinical signs of intestinal parasite infection may mimic acute appendicitis, although rare. A careful evaluation of symptoms such as pruritus ani, or eosinophilia on laboratory examination, could prevent unnecessary appendectomies.