Two cases of macrocephaly and immune deficiency

Macrocephaly describes a head circumference greater than two standard deviations above the mean and is a feature of a number of genetic syndromes. Here we report on two patients with microcephaly, immune deficiency and anemia. In addition, one case had periventricular leukomalacia and the other case had myelinisation delay in periventricular white matter development. These cases may represent a distinct new syndrome.     

Protective effects of melatonin and memantine in human retinal pigment epithelium (ARPE-19) cells against 2-ethylpyridine-induced oxidative stress: implications for age-related macular degeneration

Purpose: To investigate the possible protective effects of melatonin and memantine (MMT) against 2-ethylpyridine (2-EP)-induced oxidative stress and mitochondrial dysfunction in human RPE (ARPE-19) cells in vitro.

Materials and methods: The ARPE-19 cells were divided into seven groups. Oxidative stress was triggered by incubating the ARPE-19 cells with 30?μM of 2-EP for 24?h. Then, 200?μM of melatonin was administered over three days and 20?μM of MMT over six hours prior to the experiment. The effects of melatonin and MMT on the intracellular calcium release mechanism, reactive oxygen species production, caspase-3 and caspase-9 activities, as well as vascular endothelial growth factor levels were measured.

Results: Melatonin and MMT were found to significantly decrease apoptosis levels. The intracellular calcium release was regulated by both melatonin and MMT. Further, melatonin and MMT significantly decreased both caspase-3 and caspase-9 activities, as well as pro-caspase and poly(ADP-ribose) polymerase expression, in ARPE-19 cells. Moreover, melatonin significantly increased the protective effect of MMT. The combination of melatonin and MMT significantly decreased 2-EP-induced oxidative toxicity and apoptosis by inhibiting the intracellular reactive oxygen species production and mitochondrial depolarization levels.

Conclusions: These notable findings are the first to demonstrate the synergistic protective effects of melatonin and MMT against 2-EP-induced oxidative stress in ARPE-19 cells.     

Evaluation of obstructive sleep apnea symptoms in pregnant women with chronic disease

Objective: Obstructive sleep apnea syndrome (OSAS) is a disease which is estimated to be undiagnosed to a large extent. Hence, the prevalence of OSAS in pregnant women is unknown. We aimed to evaluate the symptoms of obstructive sleep apnea in pregnant women with chronic diseases.

Methods: In the study, 97 pregnant women with chronic diseases and 160 healthy pregnant women were included. A form questioning socio-demographic characteristics and pregnancy characteristics, Epworth scale and the Berlin questionnaire to evaluate the risk of OSAS were applied to participants.

Results: It has been determined that 10–12.5% of healthy pregnant women, 34–45.4% of pregnants with chronic diseases and 20.6–23.3% of all pregnant women had a high risk of OSAS, the pregnants with chronic disease compared to healthy pregnant women had statistically significant higher risk of OSAS. The risk of OSAS was found to be significantly higher especially in pregnant women with hypertension and diabetes.

Conclusions: OSAS can lead to the adverse consequences in pregnancy, should be questioned for all pregnants especially those with chronic diseases. Pregnant women with OSAS should be monitored more carefully in terms of diabetes and hypertension in antenatal care.     

An analysis of children with brucellosis associated with pancytopenia

Brucellosis produces a variety of nonspecific hematologic abnormalities. Hematologic complications of mild anemia and leukopenia have been frequently associated with acute brucellosis, but pancytopenia is less frequently seen. In this study, records of children with brucellosis aged under or equal to 16 years, admitted to Yuzuncu Yil University Hospital between 2004 and 2010, were analyzed retrospectively. Over this time period, 187 patients with brucellosis were diagnosed. Twenty-five (13.3%) of 187 patients had pancytopenia during admission to hospital. The diagnosis of brucellosis was confirmed by standard tube agglutination test in all patients; titers were 1:320 in 1 patient and 1:1280 in 24 patients. Blood culture was positive for Brucella melitensis in 3 patients (12%). Fever was the most common manifestation, followed by malaise, anorexia, sweating, and weight loss. Fever and splenomegaly were the common signs in most patients. In addition, arthritis was observed in 5 patients, and epistaxis, headache, and abdominal pain were observed in 3 patients. The common bone marrow aspiration findings consisted of increased megakaryocytes and hyperplasia of erythroid series, with a shift to the left of the granulocytic series. Histiocytic hyperplasia was observed in the bone marrow smear of 2 patients. Mild hemophagocytosis was observed in the bone marrow of 3 patients. All patients recovered completely, and their peripheral blood counts returned to normal by 2 to 6 weeks after antibiotic treatment of brucellosis. In conclusion, the authors would like to emphasize that brucellosis should be considered in the differential diagnosis of children with pancytopenia.     

Effects of lisinopril treatment on the pathophysiology of PCOS and plasminogen activator inhibitor-1 concentrations in rats

Research questionAngiotensin-converting enzyme inhibition results in a significant reduction in plasma concentrations of plasminogen activator inhibitor-1 (PAI-1). What are the effects of lisinopril treatment on PAI-1 concentrations and the morphology and function of the ovaries in the letrozole-induced polycystic ovary syndrome (PCOS) rat model?DesignThis prospective randomized controlled animal study involved female Wistar albino rats. Twelve rats were assigned as controls (group I). In the study group (n = 48), letrozole (an aromatase inhibitor) was administered for PCOS modelling for 9 weeks. After confirming disrupted oestrous cycles, the study group was randomized into two groups: group II (n = 24; letrozole only) and group III (n = 24; letrozole + lisinopril 15 mg/kg per day). After 12 weeks, each group was divided randomly into two. Biochemical, histopathological and immunohistochemical analyses was performed in subgroups designated A, and fertilization rates were studied in subgroups designated B.ResultsLisinopril treatment reduced the weight and area of the ovaries, the number and wall thickness of cystic follicles, and serum concentrations of LH and testosterone, relative to group II (P < 0.001). Circulating PAI-1 concentrations were significantly different among three groups (7.7 ± 0.9 ng/ml, 9.8 ± 0.7 ng/ml and 8.6 ± 0.7 ng/ml for groups IA, IIA and IIIA; P < 0.001). Pregnancy rates were 100%, 0% and 16.7% in groups IB, IIB and IIIB.ConclusionsIn the letrozole-induced rodent PCOS model, lisinopril modifies the action of letrozole, possibly by inhibition of systemic and ovarian production of PAI-1. The use of PAI-1 inhibitors deserves further investigation in understanding the pathogenesis of PCOS.