The association between preoperative 25-OH vitamin D levels and postoperative complications in patients undergoing colorectal cancer surgery.

BACKGROUND: Determining the modifiable risk factors for postoperative complications is particularly significant in patients undergoing colorectal surgery since those are associated with worse long-term outcomes. METHODS: Consecutive newly diagnosed 104 colorectal cancer patients were prospectively included in this single-center observational study. Preoperative serum 25-OH vitamin D levels were measured and analyzed for infectious and postoperative complications. RESULTS: Serum 25-OH vitamin D levels were found to be < 20 ng/ml in 74 patients (71.2%) and ≥ 20 ng/ml in 30 patients (28.8%); and the mean serum 25-OH vitamin D level was 15.95 (± 9.08) ng/ml. In patients with surgical site infection and infectious complications, 25-OH vitamin D levels were significantly lower than patients without complications (p = 0.036 and p = 0.026). However, no significant difference was demonstrated in 25-OH vitamin D levels according to overall postoperative complications. CONCLUSIONS: Our results suggest that vitamin D levels might be a potential risk factor for infectious complications in patients undergoing colorectal cancer surgery.

The outcome of a national MS-Covid-19 study: What the Turkish MS cohort reveals?

BACKGROUND: The pandemic of the new type of corona virus infection 2019 [Covid-19] also affect people with Multiple Sclerosis (pwMS). Currently, the accumulating information on the effects of the infection regarding the demographic and clinical characteristics of the disease, as well as outcomes within different DMTs¸ enable us to have better practices on the management of the Covid-19 infection in pwMS. OBJECTIVE: To investigate the incidence of coronavirus disease 2019 (Covid-19) and to reveal the relationship between the demographic-clinical and therapeutic features and the outcome of Covid-19 infection in a multi-center national cohort of pwMS. METHODS: The Turkish Neurological Society-MS Study Group in association with the Italian MuSC-19 Study Group initiated this study. A web-based electronic Case Report Form (eCRF) of Study-MuSC-19 were used to collect the data. The demographic data and MS histories of the patients were obtained from the file tracking forms of the relevant clinics. RESULTS: 309 MS patients with confirmed Covid-19 infection were included in this study. Two hundred nineteen (219) were females (70.9%). The mean age was 36.9, ranging from 18 to 66, 194 of them (62.8%) were under 40. The clinical phenotype was relapsing-remitting in 277 (89.6%) and progressive in 32 (10.4%). Disease duration ranged from 0.2 years to 31.4 years. The median EDSS was 1.5, ranging from 0 to 8.5. The EDSS score was<= 1 in 134 (43%) of the patients. 91.6% of the patients were on a DMT, Fingolimod was the most frequently used drug (22.0%), followed by Interferon (20.1%). The comorbidity rate is 11.7%. We were not able to detect any significant association of DMTs with Covid-19 severity. CONCLUSION: The Turkish MS-Covid-19 cohort had confirmed that pwMS are not at risk of having a more severe COVID-19 outcome irrespective of the DMT that they are treated. In addition, due to being a younger population with less comorbidities most had a mild disease further highlight that the only associated risk factors for having a moderate to severe COVID-19 course are similar with the general population such as having comorbid conditions and being older.

Primary squamous cell carcinoma of the ampulla of Vater: a case report.

BACKGROUND: Primary squamous cell carcinoma of the ampulla of Vater is a very rare type of tumor, and the prognosis is not well known mainly due to a limited number of cases reported. Here, we aimed to report a case with primary squamous cell carcinoma of the ampulla of Vater. CASE PRESENTATION: A 54-year-old woman presented with weight loss, jaundice, and pain in the epigastric and right upper quadrant of the abdomen. With extensive radiological imaging, the patient was diagnosed with periampullary tumor and Whipple's procedure was performed. The immunohistochemical analyses supported the diagnosis of primary squamous cell carcinoma. The postoperative course was uneventful. The patient was discharged, and adjuvant chemotherapy was recommended. CONCLUSION: Primary squamous cell carcinoma of the ampulla of Vater is a very rare histological type with an unclear pathogenesis. A better understanding of pathogenesis might be helpful in optimizing the treatment for this specific rare type of tumor.

Cor triatriatum sinister: two cases diagnosed in adulthood and a review of literature.

Cor triatriatum sinister is a rare condition caused by a membrane within the left atrium that separates the pulmonary veins from the mitral valve. While the condition is usually diagnosed in childhood, a rare presentation during adulthood is observed when the membrane is incomplete. We report two cases of incomplete cor triatriatum sinister diagnosed during adulthood and review the literature for this rare anomaly.

Cerebrospinal fluid flow dynamics in patients with multiple sclerosis: a phase contrast magnetic resonance study.

Cerebrospinal fluid (CSF) flow dynamics, which supposedly have a strong relationship with chronic cerebrospinal venous insufficiency (CCSVI), might be expected to be affected in multiple sclerosis (MS) patients. In this study, CSF flow at the level of the cerebral aqueduct was evaluated quantitatively by phase contrast magnetic resonance imaging (PC-MRI) to determine whether CSF flow dynamics are affected in MS patients. We studied 40 MS patients and 40 healthy controls using PC-MRI. We found significantly higher caudocranial (p=0.010) and craniocaudal CSF flow volumes (p=0.015) and stroke volume (p=0.010) in the MS patients compared with the controls. These findings may support the venous occlusion theory, but may also be explained by atrophy-dependent ventricular dilatation independent of the venous theory in MS patients.

E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.

BACKGROUND: Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease. It has been suggested that the E148Q mutation is the mildest mutation and some reports have questioned its disease association. OBJECTIVE: To evaluate the phenotypic features of the patients with E148Q mutation. SUBJECTS: 26 patients homozygous for E148Q, 10 compound heterozygous for E148Q, and eight complex cases were assessed. RESULTS: Although four of the 26 patients with E148Q/E148Q were asymptomatic at the time of evaluation, abdominal pain was seen in 77% of the patients, fever in 66%, arthralgia in 50%, arthritis in 15.4%, and vomiting in 23.8%. Compound heterozygotes and complex cases had a higher frequency of abdominal pain, fever, arthralgia, arthritis, myalgia, and chest pain than subjects who were homozygous for E148Q, but none of these symptoms reached statistical significance. None of our patients had amyloidosis but two with E148Q/E148Q had a family history of amyloidosis and one had rapidly progressive glomerulonephritis secondary to vasculitis, which progressed to chronic renal failure. CONCLUSIONS: Patients homozygous for E148Q have a heterogeneous clinical presentation. Most are symptomatic and colchicine treatment is required in these patients.

Beta-sarcoglycan gene mutations in Turkey.

The term limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that, at the outset, affect primarily the muscles of the hip and shoulder girdle. Limb-girdle muscular dystrophy is genetically heterogeneous comprising autosomal dominant (types LGMD 1A-1E) as well as autosomal recessive forms (types LGMD 2A-2J known). A subgroup among the autosomal recessive forms comprises the sarcoglycanopathies (LGMD2C-2F), caused by mutations in the gamma (gamma-SG), alpha (alpha-SG), beta (beta-SG) and delta (delta-SG) sarcoglycan genes, respectively. The sarcoglycans form the sarcoglycan complex, part of the dystrophin-associated glycoproteins. Mutations in the beta-SG gene causes LGMD2E. Disease severity, in this form, varies from mild to severe phenotypes depending on the individual mutation. Homozygous missense mutations in critical locations may result in the total absence of alpha-, beta- and gamma-sarcoglycan from the muscle membrane and a phenotype as severe as null mutations. In the present study, through screening 80 unrelated LGMD2 families, we identified 13 families with LGMD2E. Mutations in the beta-SG gene were identified in 12 patients from nine families. One of these patients carried a previously reported truncating mutation (Q11X), while the other 11 carried novel missense/rameshift mutations (M1L, V89M, I92T, I92S, 739insA), some of which were seen in more than one patient and may, therefore, be more common in the Turkish population.

Analgesic intolerance with or without bronchial asthma: is there a marker?

BACKGROUND: The prevalence of analgesic intolerance (AI) is less than 1% in the general population and about 10% in adult asthmatics, in whom the disease tends to be more severe. OBJECTIVE: A possible clinical-laboratory marker was sought that would differentiate patients who have AI with/without asthma, AI with asthma, and AI without asthma from the healthy subjects. METHODS: In the survey, 66 analgesic-intolerant patients (36 having asthma) were compared with 50 healthy subjects using a nickel patch-test, 65 patients (39 having asthma) with 55 healthy subjects for the presence of a genetic marker (A38G and A444C SNPs in CC16 and LTC4S genes), and 32 patients (14 having asthma) with 118 healthy subjects for presence and frequency of human leukocyte antigens (HLA). RESULTS: The mean age of the patients with AI with/without asthma and the healthy subjects for the nickel patch-test group, genetic marker group, and the HLA group was 39.8 +/- 10.5 and 33.3 +/- 11.1, 41.5 +/- 11.6 and 38.1 +/- 13.4, and 39.4 +/- 12.5 and 41 +/- 2.6, respectively. The frequency of the females in the same groups, in the same order, was 72.7% and 54%, 81.5% and 62%, and 71.9% and 59.3%, respectively. The frequency of positive nickel patch-test results and the A38G and A444C frequency in CC16 and LTC4S genes were not significantly different (p > 0.05). The frequency of HLA antigens HLA-A3, -B52, -DR16, -DQ5, -DQ8 and -DQ9 were significantly higher; and -A24, -B35, -B44, -DQ6 and -DQ7 were significantly lower in the AI group with/without asthma compared to the control group (p < 0.05). CONCLUSION: As a result, nickel patch-test positivity and the genes which we have studied do not seem to be markers for AI with/without asthma. However, there might be a relation between AI with/without asthma and the types of the HLA system. Further surveys are needed with other genes and possible markers.

A genome screen for linkage disequilibrium in Turkish multiple sclerosis.

In order to screen the Turkish population for evidence of association with multiple sclerosis, we typed 6000 microsatellite markers in separately pooled DNA samples from 197 cases and 199 controls following the Genetic Analysis of Multiple sclerosis in EuropeanS (GAMES) protocol. Twelve markers showing evidence for association were identified. One of these markers lying directly in a region which is also implicated in the Turkish linkage screen (chromosome 5p15) and thus shows evidence for both linkage and association in independent data sets.

Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently identified and four common mutations characterised. The aim of this study was to determine the carrier rate in the Turkish population and the mutation frequency in the clinically diagnosed FMF patients. We found a high frequency of carriers in the healthy Turkish population (20%). The distribution of the five most common MEFV mutations among healthy individuals (M694V 3%, M680I 5%, V726A 2%, M694I 0% and E148Q 12%) was significantly different (P<0.005) from that found in patients (M694V 51.55%, M680I 9.22%, V726A 2.88%, M694I 0.44% and E148Q 3.55%).