A rare disease: ZAP70 deficiency.

Zeta associated protein (ZAP) 70 deficiency is a rare disease. ZAP70 deficiency results in an autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a selective absence of CD8 T cells. The diagnosis should be suspected in patients presenting with a severe combined immunodeficiency phenotype and selective deficiency of CD8 T cells. Sequencing of the ZAP70 gene can confirm the diagnosis. We wanted to emphasize that immunodeficiencies should also be remembered in the differential diagnosis by presenting a 5-month-old patient who applied to our clinic with complaints of skin rash and cough, was given respiratory support with mechanical ventilation for a long time, and was diagnosed with ZAP70 deficiency.

Medial sigmoid depression prevalence and association with a sigmoid notch: cone beam computed tomography and panoramic image study.

This study aims to determine whether and how the data of the medial sigmoid depression (MSD) area via cone beam computed tomography (CBCT) differs from panoramic radiography. This study also aims to evaluate various sigmoid notch types and assess the relationship between sigmoid depression and notch morphology. A total of 129 individuals consisting of 258 sides were evaluated. Chi-Square/Fisher Exact tests were used to assess parameters on a categorical scale between two or more groups. McNemar's test compared the findings detected on panoramic and CBCT images. MSD was more prevalent in females than males in both techniques, but this difference was not statistically significant. There was no association between the prevalence of MSD and the morphology of the sigmoid notch. The incidence of MSD shape was not significantly different between both imaging modalities. In both panoramic and CBCT, we found a high and similar prevalence of MSD. While the MSD prevalence was 66.7% for CBCT, it was 58.1% for panoramic. The shape or prevalence of MSDs in either approach did not correlate with sigmoid notch morphology. The two approaches' identical prevalence indicates that the panoramic image has adequately defines MSD. The high prevalence of MSD demonstrated how important it is for clinicians to characterize this anatomical variation accurately for the surgical treatment.

Immature platelet fraction as a systemic inflammation marker in patients with chronic obstructive pulmonary disease.

INTRODUCTION: Recently, there has been an increasing interest to find a simple, low cost, widely available biomarker for outcome predictors in chronic obstructive pulmonary disease (COPD). METHODS: Absolute immature platelet count (AIPC), the percentage of AIPC to the total platelet count (immature platelet fraction [IPF%]), symptoms, spirometry results, age-dyspne-airflow obstruction index, and C-reactive protein tests of COPD patients and control group were recorded. Neutrophil/lymphocyte, monocyte/lymphocyte, and platelet/lymphocyte ratios and Charlson comorbidity index scores were calculated. RESULTS: One hundred and thirty-four COPD patients and 30 healthy control subjects were included in the study. Eighty-nine patients were in exacerbation (AECOPD) and 45 of them were in stable COPD period. There was a difference between IPF% values and AIPC of COPD group and control group (3.45 ± 2.41 vs. 2.04 ± 1.12, p = 0.01; 5.87 ± 2.45 vs. 5.20 ± 3.02, p = 0.01). A positive correlation was observed between IPF% with white blood cell count and neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, monocyte/lymphocyte ratio in all patients (r = 0.352, p < 0.001; r = 0.399, p < 0.001; r = 0.186, p = 0.032; r = 0.200, p = 0.021) and AECOPD (r = 0.356, p < 0.001; r = 0.414, p < 0.001; r = 0.239, p = 0.025; r = 0.273, p = 0.010). At a cut-off of 3.4, IPF% showed the highest accuracy in identifying COPD (sensitivity: 80.3%, specificity: 82.5%) using receiver-operating characteristic analysis. CONCLUSION: This is the first study to examine the relationship between AIPC, IPF%, and COPD. The higher IPF% values in COPD and the positive correlation between IPF% and other inflammatory markers are suggested that IPF may be an indicator of systemic inflammation in COPD.

Dementia Risk Awareness, Health Behaviors and Motivation for Dementia Prevention in Middle-Aged and Older Adults in Türkiye.

This study aimed to investigate factors influencing motivation for dementia preventive behaviors in a population aged 40 and over. We conducted a descriptive cross-sectional study between December 2022 and May 2023, involving 483 participants in an online survey. We collected data on dementia risk awareness, healthy lifestyle choices, and motivation for dementia risk reduction. The majority of respondents, comprising 41.6%, demonstrated a moderate level of risk awareness, with 50.5% believing that prevention is beyond anyone's control. Motivations for lifestyle change were significantly higher in women (p < .001) and `participants with university degree education (p < .05). Regression analysis identified gender (female), education level (higher education), and dementia risk awareness, emerged as significant predictors of motivation to change lifestyle (beta: .138, beta: .136, beta: .114, p < .001, respectively). This study underscores the importance of risk awareness in motivating dementia prevention, suggesting avenues for future research to explore specific determinants of motivation to reduce dementia risks.

Analyzing HALP and PNI scores as prognostic factors in metastatic head and neck cancers.

OBJECTIVE: This study investigates the prognostic significance of Hemoglobin, Albumin, Lymphocyte, Platelet (HALP) score and Prognostic Nutritional Index (PNI) in metastatic head and neck cancers. METHODS: Retrospective analysis was conducted on data obtained from January 2014 to June 2022 for 68 patients using rigorous statistical methods. HALP and PNI scores, derived from routine laboratory parameters, were categorized into low and high groups using respective median values. Prognostic significance was determined through Kaplan-Meier survival analyses and Cox proportional hazards regression using IBM SPSS Statistics. RESULTS: Of the 68 patients (80.9% male, median age 57), 39 (57.4%) had laryngeal cancer. When stratified by low and high HALP scores, the median overall survival (OS) was 5.9 and 16.4 months, respectively (P < 0.001), while the median progression-free survival (PFS) was 5.7 months and 8.2 months, respectively (P: 0.016). In the low and high PNI score groups, the median OS was 7 and 13.2 months (P < 0.001), with median PFS of 5.6 months and 8.2 months (P: 0.002), respectively. In the multivariate analysis, while the HALP score did not reach statistical significance in terms of PFS, the PNI score and age groups were found to be statistically significant. In terms of OS, higher HALP score and PNI scores were significantly associated with longer OS. CONCLUSION: In this study, the HALP score and PNI score were found to be a prognostic factor in patients with metastatic head and neck cancer.

A case control study investigating the methylation levels of GHRL and GHSR genes in alcohol use disorder.

BACKGROUND: Alcohol use disorder (AUD) is a relapsing disease described as excessive use of alcohol. Evidence of the role of DNA methylation in addiction is accumulating. Ghrelin is an important peptide known as appetite hormone and its role in addictive behavior has been identified. Here we aimed to determine the methylation levels of two crucial genes (GHRL and GHSR) in ghrelin signaling and further investigate the association between methylation ratios and plasma ghrelin levels. METHODS: Individuals diagnosed with (n = 71) and without (n = 82) AUD were recruited in this study. DNA methylation levels were measured through methylation-sensitive high-resolution melting (MS-HRM). Acylated ghrelin levels were detected by ELISA. The GHRL rs696217 polymorphism was analyzed by the standard PCR-RFLP method. RESULTS: GHRL was significantly hypermethylated (P < 0.0022) in AUD between 25 and 50% methylation than in control subjects but no significant changes of GHSR methylation were observed. Moreover, GHRL showed significant positive correlation of methylation ratio between 25 and 50% with age. A significant positive correlation between GHSR methylation and ghrelin levels in the AUD group was determined (P = 0.037). The level of GHRL methylation and the ghrelin levels showed a significant association in the control subjects (P = 0.042). CONCLUSION: GHSR and GHRL methylation levels did not change significantly between control and AUD groups. However, GHRL and GHSR methylations seemed to have associations with plasma ghrelin levels in two groups. This is the first study investigating the DNA methylation of GHRL and GHSR genes in AUD.

Is sarcopenia effective on survival in patients with metastatic gastric cancer?

BACKGROUND: Sarcopenia is a progressively diminishing state characterized by the reduction of muscle mass and density, which is frequently observed in malignancies of solid organs. AIM: To assess how sarcopenia affects the overall survival of individuals who have been diagnosed with metastatic gastric cancer. METHODS: The study retrospectively included individuals who had been diagnosed with metastatic gastric cancer between January 2008 and December 2020. Sarcopenia was identified through the calculation of the average Hounsfield units (HUAC) using computed tomography (CT) images taken at the time of diagnosis in patients. RESULTS: A total of 118 patients with metastatic gastric cancer were evaluated. Sarcopenia was detected in 29 patients (24.6%). The median survival of all patients was 8 (1-43) mo. The median survival of patients with sarcopenia was 2 mo, while it was 10 mo for those without sarcopenia (P < 0.001). A significant relationship was found between sarcopenia and survival. CONCLUSION: Sarcopenia has been observed to impact survival outcomes in various types of solid tumor cancers. Sarcopenic patients can be identified in a short time, easily and inexpensively, by HUAC measurements from CT images used for diagnosis, and survival could be promoted with nutritional support.

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Background: Pediatric patients with undiagnosed conditions, particularly those suspected of having Mendelian genetic disorders, pose a significant challenge in healthcare. This study investigates the diagnostic yield of whole-genome sequencing (WGS) in a pediatric cohort with diverse phenotypes, particularly focusing on the role of clinical expertise in interpreting WGS results. Methods: A retrospective cohort study was conducted at Acibadem University's Maslak Hospital in Istanbul, Turkey, involving pediatric patients (0-18 years) who underwent diagnostic WGS testing. Clinical assessments, family histories, and previous laboratory and imaging studies were analyzed. Variants were classified and interpreted in conjunction with clinical findings. Results: The cohort comprised 172 pediatric patients, aged 0-5 years (62.8%). International patients (28.5%) were from 20 different countries. WGS was used as a first-tier approach in 61.6% of patients. The diagnostic yield of WGS reached 61.0%, enhanced by reclassification of variants of uncertain significance (VUS) through reverse phenotyping by an experienced clinical geneticist. Consanguinity was 18.6% of the overall cohort. Dual diagnoses were carried out for 8.5% of solved patients. Discussion: Our study particularly advocates for the selection of WGS as a first-tier testing approach in infants and children with rare diseases, who were under 5 years of age, thereby potentially shortening the duration of the diagnostic odyssey. The results also emphasize the critical role of a single clinical geneticist's expertise in deep phenotyping and reverse phenotyping, which contributed significantly to the high diagnostic yield.

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Introduction: In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups. Methods: This multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV. Results: Median (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all). Discussion: This study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.

Rapid Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction Protocol for Detection of Y132F Mutation in Fluconazole Resistant Candida parapsilosis.

There is an emerging fluconazole resistance in Candida parapsilosis in recent years. The leading mechanism causing azole resistance in C. parapsilosis is the Y132F codon alteration in the ERG11 gene which encodes the target enzyme of azole drugs. In this study, we evaluated the sensitivity, compatibility, and specificity of a novel tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) method for rapid detection of the Y132F mutation in fluconazole nonsusceptible C. parapsilosis. Antifungal susceptibility tests for detection of fluconazole resistance were performed by broth microdilution according to the CLSI guidelines. All susceptible and nonsusceptible C. parapsilosis isolates were analyzed for ERG11 mutations with Sanger sequencing. T-ARMS-PCR was fully concordant with the Sanger sequencing (100% of sensitivity and specificity) for detection of Y132F mutations. T-ARMS-PCR method could be a rapid, simple, accurate, and economical assay in the early detection of the most common cause of fluconazole resistance in C. parapsilosis isolates. In routine laboratories with high C. parapsilosis isolation rates, performing the T-ARMS-PCR for early detection of the most common reason of fluconazole resistance in C. parapsilosis, could be a life-saving approach for directing antifungal therapy before obtaining the definitive antifungal susceptibility tests results.

Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants.

Schwartz-Jampel Syndrome (SJS) type-1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS Type-1 develops due to variations in the HSPG2 gene which produces the "perlecan" molecule, one of the main proteoglycans of the basement membrane. A 6-year-old girl presented with short stature, a mask face, shrunken lips, narrow palpebral opening due to blepharospasm, stiffness of facial muscles, micrognathia, overlapping teeth, a short neck, and a bell-shaped thorax due to myotonic myopathy. She was diagnosed with SJS type-1 due to compound heterozygosity of two novel variations in the HSPG2 gene. In patients with short stature and an accompanying myotonic myopathy SJS should be considered. Compound heterozygosity may cause typical clinical findings of SJS. In case of suspicion creatinine kinase levels can be measured, and the determination of myotonia may require evaluation with electromyography. Once the diagnosis is made, patients should be carefully monitored in terms of growth, neuromuscular disorders, joints problems and bone health.

Machine learning assessment of dental age classification based on cone-beam CT images: a different approach.

OBJECTIVES: Machine learning (ML) algorithms are a portion of artificial intelligence that may be used to create more accurate algorithmic procedures for estimating an individual's dental age or defining an age classification. This study aims to use ML algorithms to evaluate the efficacy of pulp/tooth area ratio (PTR) in cone-beam CT (CBCT) images to predict dental age classification in adults. METHODS: CBCT images of 236 Turkish individuals (121 males and 115 females) from 18 to 70 years of age were included. PTRs were calculated for six teeth in each individual, and a total of 1416 PTRs encompassed the study dataset. Support vector machine, classification and regression tree, and random forest (RF) models for dental age classification were employed. The accuracy of these techniques was compared. To facilitate this evaluation process, the available data were partitioned into training and test datasets, maintaining a proportion of 70% for training and 30% for testing across the spectrum of ML algorithms employed. The correct classification performances of the trained models were evaluated. RESULTS: The models' performances were found to be low. The models' highest accuracy and confidence intervals were found to belong to the RF algorithm. CONCLUSIONS: According to our results, models were found to be low in performance but were considered as a different approach. We suggest examining the different parameters derived from different measuring techniques in the data obtained from CBCT images in order to develop ML algorithms for age classification in forensic situations.

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive genetic testing like exome sequencing. However, disease-causing variants in known disease-associated genes only explain a proportion of cases. Here, we aim to unravel underlying molecular mechanisms of syndromic CAKUT in three unrelated multiplex families with presumed autosomal recessive inheritance. Exome sequencing in the index individuals revealed three different rare homozygous variants in FOXD2, encoding a transcription factor not previously implicated in CAKUT in humans: a frameshift in the Arabic and a missense variant each in the Turkish and the Israeli family with segregation patterns consistent with autosomal recessive inheritance. CRISPR/Cas9-derived Foxd2 knockout mice presented with a bilateral dilated kidney pelvis accompanied by atrophy of the kidney papilla and mandibular, ophthalmologic, and behavioral anomalies, recapitulating the human phenotype. In a complementary approach to study pathomechanisms of FOXD2-dysfunction-mediated developmental kidney defects, we generated CRISPR/Cas9-mediated knockout of Foxd2 in ureteric bud-induced mouse metanephric mesenchyme cells. Transcriptomic analyses revealed enrichment of numerous differentially expressed genes important for kidney/urogenital development, including Pax2 and Wnt4 as well as gene expression changes indicating a shift toward a stromal cell identity. Histology of Foxd2 knockout mouse kidneys confirmed increased fibrosis. Further, genome-wide association studies suggest that FOXD2 could play a role for maintenance of podocyte integrity during adulthood. Thus, our studies help in genetic diagnostics of monogenic CAKUT and in understanding of monogenic and multifactorial kidney diseases.

SOCIAL COGNITION AND OXIDATIVE STRESS IN SCHIZOPHRENIA PATIENTS AND FIRST-DEGREE RELATIVES OF PATIENTS.

BACKGROUND: Misattribution of motivational salience to non-salient (neutral) stimuli could be viewed as a hallmark of psychosis in schizophrenia. Studies have recently revealed increased subjective experience of emotional arousal (EA) to neutral social stimuli in paranoid schizophrenia psychosis, suggesting a misattribution of emotional salience to them. We examined this phenomenon directly by quantifying the level of EA subjectively attributed to low-arousal, neutral-valenced faces. SUBJECTS AND METHODS: Patients with remitted schizophrenia (PG) (n=26), first-degree relatives of schizophrenic patients (RG) (n=25), and healthy controls (HCG) (n=36) were compared in terms of oxidative stress parameters -serum Superoxide Dismutase, Catalase, Glutathione Peroxidase (GPx), Nitrite, Nitrate, Malondialdehyde, and Total Glutathione levels-, social cognition measured by the Reading the Mind in the Eyes Test and working memory measured by the N-back Task. Groups were compared, assuming that HCG had a genetically lower risk of schizophrenia compared to PG and RG. RESULTS: HCG performed significantly better than PG and RG, who were genetically at high risk, in terms of social cognition (respectively p=0.000, p=0.014), working memory (respectively p=0.001, p=0.003), and had statistically lower Glutathione Peroxidase (GPX) level than the PG and RG (both p:0.000). After controlling for the effect of the general intellectual abilities measured by the Raven Standard Progressive Matrices Test and working memory the differences between groups on the Eyes Test disappeared (p=0.057). However, this value tended to be significant. CONCLUSION: It was concluded that social cognition and working memory and GPx level may be used as endophenotypes and social cognition, working memory, and general intellectual skills are different but strongly related constructs. Endophenotypes guide treatment targets even after the disease has developed. The results of our study showed that in addition to psychopharmacological treatments, interventions to reduce oxidative stress and approaches to improve cognitive skills will have a positive impact on the disease's progression.

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate short stature presenting with acromesomelia, mild metaphyseal widening of the long bones and mild spondylar dysplasia. To date, only four variants have been reported; one nonsense, one splice-site, and two frameshifts in five AMDP families. Here, we report the first missense variant and a second splice-site variant in PRKG2 in two patients with clinical and radiological features of acromesomelic dysplasia. Furthermore, functional studies of the novel missense variant, p.Val470Gly, revealed that it was unable to down-regulate FGF2-induced MAPK signaling and, thus, would be predicted to cause growth delay. Hence, this report expands the mutational spectrum in skeletal dysplasias associated with PRKG2 variants. In addition, we propose recognizable facial features with acromesomelic dysplasia, PRKG2 type.

Hemoglobin, albumin, lymphocyte, and platelet score as a predictor of prognosis in metastatic gastric cancer.

BACKGROUND: The hemoglobin, albumin, lymphocyte, and platelet (HALP) score, derived from a composite evaluation of markers reflecting the tumor-inflammation relationship and nutritional status, has been substantiated as a noteworthy prognostic determinant for diverse malignancies. AIM: To investigate how the HALP score relates to prognosis in patients with metastatic gastric cancer. METHODS: The cutoff values for the HALP score, neutrophil/lymphocyte ratio, and platelet/lymphocyte ratio were determined using receiver operating characteristic analysis. Low HALP scores were defined as those less than 24.79 and high HALP scores as those greater than 24.79. RESULTS: The study cohort comprised 147 patients and 110 of them (74.8%) were male. The patients' median age was 63 (22-89) years. The median overall survival was significantly superior in the patients with high HALP scores than in those with low HALP scores (10.4 mo vs 7.5 mo, respectively; P < 0.001). CONCLUSION: The HALP score was found to be a prognostic factor in patients with metastatic gastric cancer.

Are ABO/Rh blood groups A risk factor for polycystic ovary syndrome?

This study goaled to evaluate the ABO/Rh blood group distribution and its relationship with clinical and biochemical factors in polycystic ovary syndrome (PCOS) patients. ABO/Rh blood group distribution of the patients and the healthy individuals were compared. In addition, the features of clinical and biochemical factors were compared according to the ABO/Rh blood groups. Two hundred and sixty-five patients were involved in the study. At the time of diagnosis, hirsutism (86%) and oligomenorrhea (80.9%) were the most prevalent symptoms. There were 166 (62.6%) patients with baseline ultrasonography results consistent with PCOS. In 111 (41.9%) patients, insulin resistance was found. ABO blood group distributions in the patient (42.6% A, 17% B, 9.4% AB, 30.9% O) and control (42% A, 16% B, 8% AB, 34% O) groups were found to be similar (P = .9). There was no difference between oligomenorrhea, hirsutism, hair loss, acne, obesity, high androgen level, insulin resistance, and ultrasound characteristics according to ABO/Rh blood groups. In this study, ABO/Rh blood group distribution in individuals with PCOS was found to be similar to healthy individuals, and it was determined that ABO/Rh blood group was not a risk factor for PCOS. In addition, no correlation was found between the clinical and biochemical characteristics of the patients at the time of diagnosis and the ABO/Rh blood group.

A new line method; A direct test in spinal muscular atrophy screening for DBS.

BACKGROUND: Nucleic acid-based assays provide an opportunity to screen for genetically encoded diseases like spinal muscular atrophy (SMA), before the onset of symptoms. Nowadays, such assays could be easily utilized as high-throughputs in SMA to detect a homozygous deletion of exon 7 of the survival motor neuron 1 gene (SMN1) that is responsible for >95% of SMA patients. METHODS: We developed a new line method (NLM) as a direct real time PCR test procedure without nucleic acid extraction in dried blood spots (DBS) to screen for homozygous deletion of exon 7 of the SMN1 gene. Performance of this setup was evaluated on 580 DBS newborn samples and air dried 50 DBS from whole blood including 20 samples for homozygous deletion of the SMN1 gene detected earlier with MLPA. RESULTS: We found all 580 newborn DBS samples as wild type. DBS prepared from 50 whole blood samples also including 20 affected people were correctly identified as homozygous deletions and 30 wild types of exon 7 of SMN1 as before with MLPA. When the MLPA method was taken as the gold standard, the sensitivity and specificity of the NLM test were found 100% for the detection of SMN1 exon 7 homozygous deletion. CONCLUSION: In the NLM, the total test duration has been reduced to less than 75 min without requiring any extra process such as DNA extraction step and sample plate preparation after the punching step. Thereby, newborn SMA screening with the NLM has gained an environmentally friendly feature with not requiring additional tedious steps.

Evaluation of ABO/Rh blood group distributions in papillary thyroid cancer patients.

The study aimed to evaluate the ABO/Rh blood group distributions and their relationship with clinical-pathological features in papillary thyroid cancer patients. It was planned as a retrospective case-controlled study. The blood group distributions of the patients were contrasted with that of the general population. Additionally, the association between clinical-pathological variables and blood group distribution was assessed. Two hundred and ninety-three patients were involved in the study. The median age was 48 years, and the majority of patients were female (84.3%). The most common variants of papillary thyroid cancer were follicular, classical, and oncocytic. The majority of the patients had stage 1 (91.1%) disease at the time of diagnosis. ABO blood group distributions in the patient (47.4% A, 11.9% B, 8.2% AB, 32.4% O) and control (42% A, 16% B, 8% AB, 34% O) groups were found to be similar ( P = .8). In terms of Rh factor, there was a comparable distribution for the characteristics of the patient and healthy control group ( P = .6). There was no association between clinical and pathological variables and blood group distributions (gender, age, tumor stage, tumor location, and pathological tumor variant). Comparing patients with papillary thyroid carcinoma to the healthy control group, the prevalence of the A blood group numerically increased while the prevalence of the B blood group numerically decreased, but it was not statistically significant. In addition, ABO/Rh blood type and clinical and pathological variables did not relate.