Estimation of the appendicular skeletal muscle mass and phase angle cut-off values from a young Turkish reference population using multifrequency bioelectrical impedance analysis.

OBJECTIVE: Population-specific muscle mass cut-off values are recommended for the diagnosis of sarcopenia. In this study, we aimed to determine the appendicular muscle mass index (ASMI) and phase angle (PA) cut-off values for the Turkish population using multi-frequency bioelectrical impedance analysis (mBIA). PATIENTS AND METHODS: A total of 250 healthy volunteers aged 18-40 years were included in the study between September 2020 and December 2021. PA was measured by mBIA, and appendicular skeletal muscle mass (ASM) was calculated by the Sergi formula using the resistance and reactance measurements from mBIA. ASMI was calculated as ASM (kg)/(height in meters)2. Two standard deviations (SD) below the mean values were accepted as cut-off points. RESULTS: 134 women and 116 men were included in the study (26.0±5.6 years). The ASMI cut-offs for men and women were 5.86 and 4.36 kg/m2, respectively. The PA cut-offs were 5.66° in men and 4.38° in women. CONCLUSIONS: The present study reported the ASMI and PA cut-off values specific to the Turkish population using the Sergi formula, which was suggested by the European Working Group on Sarcopenia in Older People (EWGSOP).

Malnutrition risk in hospitalized patients measured with Nutrition Risk Screening 2002 tool and its association with in-hospital mortality.

OBJECTIVE: Malnutrition is related to increased morbidity, mortality, and costs. NRS-2002 is a practical malnutrition risk (MR) screening tool approved by the European Society for Clinical Nutrition and Metabolism (ESPEN) for inpatients. We aimed to reveal the inpatient MR using NRS-2002, and to examine the relationship between MR and in-hospital mortality. PATIENTS AND METHODS: The results of inpatient nutritional screening in a tertiary referral center university hospital were retrospectively analyzed. The NRS-2002 test was used for defining MR. Comorbidities, initial and follow-up anthropometric data, NRS-2002 score, food intake, weight status, and laboratory analysis were examined. In-hospital mortality was noted. RESULTS: Data from 5,999 patients were evaluated. On admission, 49.8% of the patients had MR, and 17.3% had severe MR (sMR). MR-sMR was higher in geriatric patients (62.0-28.5%). Those with dementia had the highest MR (71%), followed by stroke (66%) and malignancy (62%). Age and serum C-reactive protein (CRP) were higher, and body weight, BMI, serum albumin, and creatinine were lower in patients with MR. Multivariate analysis showed that age, albumin, CRP, congestive heart failure (CHF), malignancy, dementia, and stroke were independently associated with MR. The overall mortality rate during hospitalization was 7.9%. MR was associated with mortality regardless of serum CRP, albumin, body mass index (BMI), and age. Half of the patients received nutritional treatment (NT). NT resulted in preserved or increased body weight and albumin levels among patients and the geriatric group with MR. CONCLUSIONS: AMR revealed that NRS-2002 is positive in approximately half of the hospitalized patients, which is associated with in-hospital mortality independent of the underlying diseases. NT is related to weight gain and increased serum albumin.

The prevalence of sarcopenic obesity and its relationship with type 2 diabetes in a nursing home.

OBJECTIVE: Diabetes mellitus (DM), sarcopenia, and sarcopenic obesity (SO) in the elderly were related to frailty, morbidity, and mortality. The aim of this study was to determine the contribution of diabetes mellitus to the prevalence of SO in a nursing home residents. SUBJECTS AND METHODS: This cross-sectional study included 397 old-aged (≥65 years) nursing home residents dwelling in Darulaceze Directorate Kayisdagi Campus of Istanbul. Exclusion criteria included <65 years of age, residing for less than a month, acute medical problems, and severe cognitive impairment (mini-mental state examination test score ≤10). Demographic characteristics, anthropometric measurements, nutritional status, and handgrip strength were evaluated for each participant. Sarcopenia was defined according to the European Working Group on Sarcopenia in Older People (EWGSOP) II criteria and obesity was defined with body mass index (BMI) ≥30 kg/m2. SO was the concomitant existence of sarcopenia and obesity together. RESULTS: Mean age of the participants was 77.95±7.94 (65-101) years (n=397). The prevalence of probable sarcopenia was significantly higher in non-obese patients when compared to obese (48.1% vs. 29.3%, p=0.014), which was similar after the exclusion of malnourished residents. In DM patients (n=63), the prevalence of obesity, probable sarcopenia and sarcopenic obesity were 30.2%, 42.2%, and 13.3%, which were 20.4%, 43.2%, and 6.5% in non-DM residents, respectively. CONCLUSIONS: Although they did not reach statistical significance, obesity and sarcopenic obesity were more prevalent among diabetic patients in a nursing home.

Impedance ratio: a novel marker and a powerful predictor of mortality in hemodialysis patients.

PURPOSE: Impedance ratio (Imp-R) obtained by multifrequency bioimpedance analysis (BIA) has been shown to be associated with volume and nutrition status. In this prospective study, the predictive role of Imp-R for mortality in hemodialysis (HD) patients was investigated. METHODS: Multifrequency (5-50-100-200 kHz) BIA was applied to 493 prevalent HD patients in March-April 2006. Imp-R was defined as the ratio of 200-5 kHz impedance values. Demographical, clinical and laboratory data at the time of the analysis were recorded. All-cause and cardiovascular (CV) mortality were assessed during 3 years of follow-up. RESULTS: Mean age was 57.7 ± 13.9 years, HD duration 52.1 ± 42.6 months and prevalence of diabetes 21.7 %. Imp-R was negatively correlated with nutritional markers including albumin, creatinine and hemoglobin levels. In addition, there was a positive correlation between Imp-R and age, ratio of extracellular water to total body water and high-sensitive C-reactive protein. Over a mean follow-up period of 27.9 ± 11.1 months, 93 deaths (52 from CV reasons) were observed. In the multivariate analysis, Imp-R was significantly associated with all-cause and CV mortality after adjustments [HR 1.13, 95 % CI (1.04-1.23); p = 0.004 and HR 1.15, 95 % CI (1.03-1.27); p = 0.01, respectively]. The risk of all-cause mortality was 3.4 times higher in the fourth quartile of Imp-R (>83.5 %) compared to the first Imp-R quartile (<78.8 %) as reference. Cutoff value of Imp-R for all-cause mortality was 82.0 % with a sensitivity of 65.5 % and specificity of 64 %. CONCLUSION: Impedance ratio measured by multifrequency in standardized conditions BIA is an independent and powerful predictor of both all-cause and CV mortality in hemodialysis patients.

HLA-B51 subtypes in Turkish patients with Behçet's disease and their correlation with clinical manifestations.

Behçet's disease (BD) is a multisystemic inflammatory disease believed to be triggered by microbial or environmental factors on a genetic platform. Clinically, it may have an impact on many body systems, including the mucocutaneous, ocular, articular, vascular, and neurological systems. In this study, we aimed to determine the HLA-B51 subtypes and their correlations with the clinical findings of BD. Fifty-one patients with BD and 44 gender- and age-matched healthy subjects were included in this study. The HLA-B51 subtypes of all participants were determined, and the correlations of the clinical manifestations of the disease with the HLA-B51 subtypes were analyzed. HLA-B51 positivity was found to be significantly higher in the patient group (P < 0.001, RR = 15.20), which had significantly more frequent HLA-B5101, HLA-B5102(01), HLA-B5109, and HLA-B5122 subtypes than the healthy subjects (all P < 0.05). Furthermore, considering the correlation between the genetic makeup and clinical findings, the HLA-B5109 subtype was found to be less frequent in patients with papulopustular skin lesions (P = 0.042). The frequency of HLA-B5103 was significantly higher in patients with central nervous system involvement (P = 0.015). There may be a relationship between HLA-B5102(01), HLA-B5109, and HLA-B5122 in addition to HLA-B51 and HLA-B5101(01) in Turkish patients with BD. The HLA-B5109 subtype can be protective against papulopustular lesion development; however, the HLA-B5103 subtype may pose a risk for neuro-Behçet development in BD.

Co-existence of familial Mediterranean fever and multiple sclerosis in two patients.

ABSTRACT Two female patients, aged 23 and 25 years-old diagnosed with Familial Mediterranean fever (FMF) were presented with ataxia and headache. Multiple sclerosis plaques were detected in their spinal and cranial MRI and diagnosis of multiple sclerosis was established. Genetic analysis demonstrated M694 V mutation (one homozygous and the other heterozygous) in both of the patients. Although it is quite rare, coexistence of familial Mediterranean fever and multiple sclerosis should be kept in the mind.

Brucellosis in spondyloarthritis mimicking an exacerbation.

Spondyloarthritis are a group of chronic inflammatory diseases that affect the axial skeleton, entheses and peripheral joints and may have extraarticular manifestations such as uveitis, psoriasis and inflammatory bowel disease. Brucellosis is a systemic infectious disease, endemic in Middle East, Latin America, and Mediterranean countries, which may present manifestations that resemble other diseases posing serious problems of differential diagnosis. Some hallmarks of Brucellosis may mimic a spondyloarthritis flare. In this paper, authors present a clinical case of brucellosis occurring in a patient with spondyloarthritis. Clinical symptoms initially mimicked exacerbation of spondyloarthritis.

Successful treatment with anti-tumor necrosis factor (anti-TNF)-alpha of proteinuria in a patient with familial mediterranean fever (FMF) resistant to colchicine: anti-TNF drugs and FMF.

Familial mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever, peritonitis, pleuritis, and genetically by autosomal recessive inheritance. The major renal involvement in FMF is the occurrence of amyloidosis that can be prevented by a daily regimen of colchicine. About 5-10% of cases with familial mediterranean fever may be resistant to colchicine. In literature, there is a controversy about the treatment of FMF patients resistant to colchicine. We describe a case with FMF, proteinuria, and bilateral sacroiliitis, which responded to anti-TNF (tumor necrosis factor)-alpha therapy with infliximab and etanercept.

Erythema nodosum: an evaluation of 100 cases.

OBJECTIVES: In this study, we investigated the clinical features, etiology, and also predictive factors of secondary erythema nodosum (EN) in patients with EN. METHODS: A total of 100 patients (mean age: 37 years) diagnosed with EN between 1993 and 2004 in our clinic were included in the study prospectively. A skin biopsy was performed in 46 of the patients. Patients were considered to have secondary EN when an underlying condition was found, and to have primary EN when no such condition was found. For the diagnosis of the underlying diseases, the pertinent diagnostic criteria and/or diagnostic methods were used. Categorical and continuous variables were compared by using chi-square and Mann-Whitney U tests respectively. Multiple regression analysis was applied to the significantly different variables. RESULTS: The majority of the patients were female (female/male: 6/1) and nearly half (47%) of the cases had a determined etiology. The leading etiology was poststreptococcal (11%), followed in decreasing order by primary tuberculosis (10%), sarcoidosis (10%), Behçet's syndrome (BS) (6%), drugs (5%), inflammatory bowel diseases (IBD) (3%), and pregnancy (2%). Fifteen (15%) patients complained of cough; the diagnosis was primary tuberculosis in eight cases and sarcoidosis in seven. Four patients with arthritis were diagnosed as having BS (in 3) and Crohn's disease (in 1). All the patients were followed for a mean duration of 4.5 years. The nodosities relapsed annually in 62% (33/53) of idiopathic EN patients but in only one (BS) in the secondary EN group. The histology was consistent with EN in all biopsied patients. Our study revealed that fever, leukocytosis, elevated CRP level, accelerated ESR, presence of cough, sore throat, diarrhea, arthritis, and pulmonary pathology were predictors of secondary EN. Recurrence in EN significantly predicted primary EN. All of the patients had bed rest and the majority was given an anti-inflammatory agent (naproxen sodium). The outcomes were usually favorable within 7 days. The patients with an underlying disease were given the specific treatment. CONCLUSION: EN has been associated with numerous diseases. In order to reduce cost and duration of diagnosis, every centre should determine its own most frequent etiologic factors. Predictive variables for secondary EN should also be determined and an optimum management for such patients should be clarified. Our study revealed streptococcal pharyngitis, primary tuberculosis, sarcoidosis, IBD, and BS as the main etiologies of EN.

Protective effect of melatonin on experimental spinal cord ischemia.

STUDY DESIGN: Experimental animal model to assess ischemic spinal cord injury following occlusion of the thoraco-abdominal aorta. OBJECTIVES: To measure whether melatonin administered to rabbits before and after occlusion exerts an effect on the repair of ischemia-reperfusion (IR) injury. SETTING: Medical Biology Laboratory, Inonu University, Malatya, Turkey. METHODS: Rabbits were divided into three IR treatment groups and one sham-operated (ShOp) control group. The three treatment groups had their infrarenal aorta temporarily occluded for 25 min, while the ShOp group had laparotomy without aortic occlusion. Melatonin was administered either 10 min before aortic occlusion or 10 min after the clamp was removed. Physiologic saline was administered to the control animals. After treatment, the animals were euthanized and lumbosacral spinal cord tissue was removed for the determination of relevant enzyme activities. RESULTS: Malondialdehyde levels, indicating the extent of lipid peroxidation, were found to be significantly increased in the nonmelatonin treated (IR) group when compared to the ShOp group. Melatonin, whether given to pre- or post occlusion groups, suppressed malondialdehyde levels below that of the ShOp group. Catalase (CAT) and glutathione peroxidase (GSH-Px) enzyme activities were increased in the IR group compared to the ShOp group. Melatonin given preocclusion resulted in a significant decrease in both CAT and GSH-Px enzyme levels. The superoxide dismutase (SOD) enzyme activity was decreased in the ischemia-reperfusion treatment group. However, the melatonin treatment increased SOD enzyme activity to levels approximating that of the ShOp group. CONCLUSION: To our knowledge, this is the first study that shows the effects of melatonin administered both pre- and postischemia on induced oxidative damage to injured spinal cords. Our data also expands on reports that melatonin administration may significantly reduce the incidence of spinal cord injury following temporary aortic occlusion.

Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.

The precise identification of human hemoglobin variants, over 700 human hemoglobin variants are known, is essential for prediction of their clinical and genetic significance. A systematic approach to their rapid identification is described. Traditionally this requires protein or DNA characterization which entails lengthy analytical procedures. To overcome these obstacles a rapid approach to variant hemoglobin identification has been developed using conventional phenotypic methods combined with electrospray ionization-mass spectrometry (ESI-MS). The latter requires only a small amount of whole blood (10 microl) but in most cases 2 microl would have been sufficient and no preanalytical steps, such as separation of red cells or globin chains, are necessary. Aged, hemolyzed blood samples can also be analyzed. This approach has been used to positively identify 95% of the variants in over 250 samples. The remaining 5% in which a variant was detected by phenotypic techniques were not resolved by mass spectrometry. Ninety-nine different abnormalities comprising 36 alpha-chain variants, 59 beta-chain variants (including 2 extensions), and 4 hybrid hemoglobins were identified. These include 15 novel variants. The application of ESI-MS described requires approximately 1 h to prepare and analyze each sample and has minimal reagent costs. The turnaround time on a single sample can be as little as 2 h. This technique can now be considered a useful additional tool for reference laboratories.

Potential salvage therapy for accidental intrathecal vincristine administration: a preliminary experimental study.

BACKGROUND: Accidental intrathecal vincristine (VCR) administration results in severe neurotoxicity, usually fatal in outcome. No specific therapy for initrathecal VCR toxicity has been reported so far. In our recent report, complete in vitro degradation of VCR by hypochlorous acid (HOCl) was demonstrated. METHODS: In this comparative study, we examined the in vivo effectiveness of HOCl in the cerebrospinal fluid of 24 New Zealand rabbits following intracisternal VCR administration. RESULTS: There were no significant clinical or histopathologic abnormalities in the control and HOCl groups; however, multiple necrotic foci on histopathological examination of brain sections in the VCR group were determined. There were significantly lower numbers of necrotic foci in brain sections of rabbits which received HOCl administration than those without therapy. CONCLUSION: Our results indicate that HOCl may reduce VCR neurotoxicity.

An end-plate chondroma mimicking calcified lumbar disc herniation. A case report and review of the literature.

The authors report a case of chondroma arising from a vertebral end-plate and mimicking lumbar disc herniation. This tumor became calcified within 2 weeks. It was completely removed surgically, after which the patient's symptoms were relieved and neurological deficits regressed.

An unusual variant of a growing skull fracture in an adolescent.

A great majority of growing skull fractures occur in infancy and earlychildhood. Since the growth of brain is necessary as a driving force for these lesions to occur, almost all reported cases have been before the first 3 years of life. Although a number of uncommon locations, such as basiooccipital and skull base areas, have been reported, they are commonly located on calvaria. The authors report a growing skull fracture on the orbital roof in a 16-year-old female admitted to hospital with complaints of headache and seizures. She had had an orbital trauma 8 years before. CT scan revealed a hypodense lesion in the right frontal lobe and a diastatic fracture line on the right orbital roof. A right craniotomy was performed. Excision of arachnoid loculations and duraplasty were carried out. This is an unusual condition with respect to the location of the lesion, as well as the age of the patient.

Unusual presentation of a sinonasal carcinoma mimicking an aneurysm rupture.

Although the association of subarachnoid hemorrhage (SAH) and tumoral lesions in adult is well known, hemorrhage from a sinonasal carcinoma extending to the intracranial cavity is exceedingly rare. In this paper, the authors report on a 12-year-old girl who presented with SAH caused by a sinonasal carcinoma located in the anterior skull base area. To our knowledge, this is the first report of a sinonasal carcinoma concomitant with SAH.

An unusual presentation of metastatic adenocarcinoma in the cerebellum associated with intratumoral hemorrhage mimicking a stroke. A case report.

Spontaneous bleeding from a metastatic tumor in the brain is usually associated with melanoma, choriocarcinoma, or hypernephroma. We report a patient with rectum adenocarcinoma which metastasized into the cerebellum and mimicked a stroke, and discuss the clinical features and diagnostic problems of this uncommon condition.

Genetic and acquired predisposing factors and treatment of osteoporosis in thalassaemia major.

We have previously shown a high incidence of osteopenia and osteoporosis in patients with thalassaemia major. These bone changes, were more severe in males than females, in those with diabetes mellitus and with hypogonadal-hypogonadism. Our recent studies concern the relationship of erythroid activity, assessed by serum transferrin receptors as an overall measure of anaemia, to osteoporosis. Serum transferrin receptor levels correlated with the mean pre-transfusion haemoglobin level, but there was no correlation with the incidence of osteopenia and osteoporosis. As osteoporosis has a strong genetic component we have also studied the COLIA1 and COLIA2 genes which code for the major protein of bone (type 1 collagen). Studies by others have shown in non-thalassaemic patients that a polymorphism G-->T or TT in a regulatory region of COLIA1 at the recognition site for transcription factor Sp1 is associated with the presence of osteoporosis. Our studies suggest that Sp1 polymorphism is not specific to any one ethnic group; the polymorphism occurs more commonly in females (female to male ratio 2:1). In male thalassaemia major patients the presence of the Sp1 mutation was associated with more severe osteoporosis of the spine and the hip compared with female patients. There is failure of improvement in spinal osteoporosis with bisphosphonate therapy (intravenous Pamidronate) in male patients with the Sp1 mutation.

Interethnic variation in genetic risk factors for vascular disease

Genetic predisposition to vascular disease has important implications for population screening and prevention. The most common hereditary cause of venous thrombosis is resistance to activated protein C caused by the G1691A point mutation in exon 10 of the factor V gene (1q21-25) which leads to the substitution of glutamine for arginine (factor V Leiden). A thermolabile variant of 5, 10-methylenetetrahydrofolate reductase (MTHFR) caused by the C677T mutation of the MTHFR gene (1p36.3) which substitutes valine for alanine is associated with the vascular disease risk factor hyperhomocysteinaemia. The possibility that these mutations may predispose individuals of African-American origin to thrombosis was investigated in 9 patients (6 male, 3 female) with sickle cell anaemia who had experienced a thrombotic episode. The frequency of the MTHFR C677T mutation was also determined in unrelated subjects from six different populations: African-Caribbean (50), Oriental (47), Asian Indian (21), Middle Eastern (24), Meditteranean (50) and Northen European (61). The MTHFR and factor gene regions of interest were amplified by the polymerase chain reaction method. Factor V Leiden was screened for by single strand conformation polymorphism analysis and the MTHFR C 677T mutation by Hinf 1 restriction. All patients were homozygous normal (G/G) for the factor V allele. This is consistent with population studies which failed to identify factor V Leiden in normal subjects of Sub-Saharan African populations and found a low frequency (0.65 percent in Black Americans. By contrasts, factor V Leiden was found to be most prevalent in European populations (from 1.4 percent in Finland to 7 percent in Greece). One patient was heterozygous (C/T) and 8 homozygous normal (C/C) for the MTHFR mutation. Population studies revealed the observed frequency of the mutant allele (T) to be lowest in African-Caribbean subjects (9 percent) of whom none were homozygous and only 18 percent heterozygous. The frequency was highest in the Meditteranean population (42 percent), followed by Middle Eastern (38 percent), Northern European (30 percent), Asian Indian (21 percent) and Oriental (19 percent). No deviation from Hardy-Weinberg equilibrium was detected. The proportion of subjects homozygous for the mutation (T/T) was 18 percent Meditteranean, 17 percent Middle East, 10 percent Northern European and Asian Indian and 2 percent Oriental. (AU)

The molecular basis for genetic variation in fetal haemoglobin level in sickle cell anaemia

Raised fetal haemoglobin levels ameliorate the clinical severity of sickle cell anaemia. This provides a rationale for therapy and signals the need to elucidate the molecular basis for the variability of HbF level in sickle cell anaemia. Polymorphism within regulatory sites of the globin locus alter the affinity with which transcription factors bind their cogante recognition sites thereby modulating gene expression. A novel chromosomal haplotype utilising polymorphic variation within two enhancers hypersensitive site 2 (HS2) of the locus control region and the pre g y framework and the silencer protein BP1 binding site that spans a 53 kb interval of the globin locus was determined in 205 patients with sickle cell anaemia from the UK and Jamaica. Multiplexed polymerase chain reactions developed to facilitate rapid analysis of polymorphisms within each site allowed individual haplotype construction in a single lane of a single strand conformation polymorphism (SSCP) electrophoresis gel. SSCP banding patterns for the combined polymorphic sites were confirmed as unique chromosomal haplotypes by DNA sequence anaylsis. Three hundred and ten chromosomes with sequence TA7 N 12 TA8, GA and AT(AT)8T4 were designated class 1. Twenty-five class II with sequence TA8 N10 TA11, GG, AC(AT)6T9; 17 class III with TA9 N10 TA10, AG, AC(AT)8T4; 7 class IV with TA10 N10 TA12, AG, AC(AT)9T5 and 13 class Ia haplotype with sequence TA9 N10 TA10, GA, AT(AT)8T4 were identified. The proportion of class I chromosomes in both groups (159/210 UK; 151/200 Jamaican) is identical, however, significantly more chromosomes with sub-classes I and II are present among the Jamaican sample. There is incomplete association between the functional haplotype classes defined and conventional haplotypes based on restriction fragment length polymorphisms. The level of Hbf is significantly higher in patients with functional haplotype classes III and IV compared to those with classes I and II. Both high HbF haplotypes share a high affinity binding motif for the transcription factor GATA-1. This novel approach allows the combined effets of genetic variation in regulatory sequences within the globin locus on HbF level to be defined. (AU)