SARS-CoV-2 vaccine-associated subacute thyroiditis.

PURPOSE: With coronavirus disease 2019 (COVID-19), subacute thyroiditis (SAT) cases are on the rise all over the world. COVID-19 vaccine-associated SAT cases have also been reported. In this article, we present our data on 11 vaccine-associated SAT cases. METHODS: Eleven patients were included in the study. Type of the vaccines patients received, time to the occurrence of SAT after vaccination, symptoms and laboratory findings, treatment given, and response to treatment were evaluated. RESULTS: The age of patients ranged from 26 to 73. Four of the patients were males, and seven were females. Symptoms of six patients were seen after BNT162b2 Pfizer/BioNTech COVID-19 mRNA vaccine®, and four of them after Coronavac inactivated SARS-CoV-2 vaccine®. In one patient, SAT developed after the first dose of BNT162b2, administered after two doses of Coronavac. The average time to the onset of symptoms was 22 days (15-37) after vaccination. CONCLUSIONS: The fact that both whole virus containing and genetic material containing vaccines cause SAT suggests that the trigger may be viral proteins rather than the whole viral particle. Although corticosteroids are commonly preferred in published vaccine-associated SAT cases, we preferred nonsteroidal anti-inflammatory therapy in our patients for sufficient vaccine antibody response. There is not enough information about whether patients who develop SAT can be revaccinated safely considering the ongoing pandemic. Further research is needed for a conclusion in the treatment and revaccination of these patients.

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

BACKGROUND: Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper- and hypopigmentation, all of which are inherited in an autosomal dominant manner. OBJECTIVES: To describe the genotypic and clinical spectrum of biallelic KITLG-variants. METHODS: We used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports. RESULTS: We describe the first case series with biallelic KITLG variants; we expand the known hypomelanosis spectrum to include a 'sock-and-glove-like', symmetric distribution, progressive repigmentation and generalized hypomelanosis. We speculate that KITLG biallelic loss-of-function variants cause generalized hypomelanosis, whilst variants with residual function lead to a variable auditory-pigmentary disorder mostly reminiscent of Waardenburg syndrome type 2 or piebaldism. CONCLUSIONS: We provide consolidating evidence that biallelic KITLG variants cause a distinct auditory-pigmentary disorder. We evidence a significant clinical variability, similar to the one previously observed in KIT-related piebaldism.

Variants in CIB2 cause DFNB48 and not USH1J.

The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher syndrome (USH). Variants in the CIB2 gene have been previously reported to cause hearing loss at the DFNB48 locus and deaf-blindness at the USH1J locus. In this study, we characterize the phenotypic spectrum in a multiethnic cohort with autosomal recessive non-syndromic hearing loss (ARNSHL) due to variants in the CIB2 gene. Of the 6 families we ascertained, 3 segregated novel loss-of-function (LOF) variants, 2 families segregated missense variants (1 novel) and 1 family segregated a previously reported pathogenic variant in trans with a frameshift variant. This report is the first to show that biallelic LOF variants in CIB2 cause ARNSHL and not USH. In the era of precision medicine, providing the correct diagnosis (NSHL vs USH) is essential for patient care as it impacts potential intervention and prevention options for patients. Here, we provide evidence disqualifying CIB2 as an USH-causing gene.

LPS-induced Src family kinases activity mediates IL-10 production through activation of STAT3 in peripheral blood mononuclear cells of patients with Behçet's Disease.

Behçet's disease (BD) is achronic inflammatory disorder characterized by recurrent oral and genital ulcers, uveitis and skin lesions. Although,the pathogenesis of BD remains poorly understood, excessive or dysregulatedcytokine production including IL-10 is associated with BD. Revealing the key molecular mechanism by which IL-10 expression is regulated is crucial to understanding the pathogenesis of BD. The aim of this study was to investigate whether Src family kinases (SFKs) are upstream mediators of STAT3/IL-10 pathway in peripheral blood mono nuclear cells(PBMCs) of active BD patients.Twenty active BD patients and twenty healthy subjects used as control were included in the study. PBMCs were isolated from total blood by density gradient centrifugation.Western blot and ELISA methods were applied to analyzelipopolysaccharide (LPS)-induced SFKs/STAT3/IL10 signaling pathway in BD.Inhibition of SFKs activity suppressed LPS-induced IL-10 production in PBMCs fromboth controls and active BD patients. Similarly, blockage of STAT3 activation abrogated LPS-induced IL-10 production. However, LPS-induced STAT3 activation required for IL-10 production was found to be dependent on SFKs activity as LPS-induced STAT3 phosphorylation was reduced by the inhibition of SFKs activity in PBMCs of active BD patients.SFKs activity is essential for LPS-induced STAT3/IL-10 pathway in PBMCs of active BD patients. Manipulation of the SFKs activity may offer a novel therapeutic approach for BD.

A Mayan founder mutation is a common cause of deafness in Guatemala.

Over 5% of the world's population has varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (ARNHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a ARNHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared with those of Native American, European, and African populations shows a close match with the Mayan population.

Investigation of the effects of oleuropein rich diet on rat enteric bacterial flora.

OBJECTIVES AND BACKGROUND: Oleuropein is a phenolic compound of olive leaves. Enteric bacterial flora is very important for human health and diet is a directly affecting factor of enteric bacterial flora composition. In this study, it was hypothesized that oleuropein could reduce total aerobic bacterial count in rat caecal flora. METHODS: Twenty adult, male, Wistar albino rats were randomly divided into two groups. Group C (n=10) was fed with standard rat chow and water for 30 days. Group O (n=10) received olive leaf extract 20 mg/kg/day by intragastric gavage in addition to standard rat chow and water for 30 days. One gram of caecal content was collected from each rat and then consecutive 10-fold serial dilutions were prepared with a final concentration of 10-8. Then 0.1 ml of each dilution were spread onto the surfaces of Plate Count Agar and Violet Red Bile Glucose Agar to enumerate the aerobic enteric bacteria. RESULTS: Total aerobic bacterial counts of Group O were significantly lower than of Group C in all agar plates inoculated with ceacal samples for every dilution (p<0.05). CONCLUSION: Adding oleuropein to enteral feeding solutions of critically ill patients may be adventageous in the presence of clinical conditions predisposing to bacterial translocation by reducing enteric bacterial counts (Tab. 1, Ref. 32).

Prevalence and mutations of ß-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey.

The prevalence of ß-thalassemia (ß-thal) carriers in Turkey varies according to region but in general it is 2.0%. Çanakkale is a city in the Aegean region of Turkey but no study about ß-thal frequency in Çanakkale has been published to date. In this study, we aimed to investigate the frequency of ß-thal mutations in this province. A total of 4452 couples (8904 individuals) applied for premarital thalassemia scans at the Çanakkale State Health Directorate Laboratory between January 2008 and June 2012 and scanning was done with high performance liquid chromatography (HPLC). Of 125 ß-thal carriers seen at the Medical Genetics Clinic, Çanakkale Onsekiz Mart University, Çanakkale, Turkey, for genetic counseling, 46 participated in the study. The remaining 79 patients could not be reached. The prevalence for ß-thal carriers in Çanakkale was identified as 1.4% (125/8904). One couple were both ß-thal carriers. ß-Globin gene analysis of 46 carriers found the total frequency of the three most common mutations was 45.6%. These mutations were found to be HBB: c.93-21G>A [IVS-I-110 (G>A)], 26.08% (12/46); HBB: c.17_ 18delCT [codon 5 (‒CT)], 10.85% (5/46); HBB: c.20delA [codon 6 (‒A)] 8.69% (4/46). This is the first report on the frequency and mutation profiles of ß-thal for Çanakkale. The incidence of ß-thal carriers in Çanakkale is below the average for Turkey. The most frequently observed mutation profile and rate of ß-thal in our region is different from the other regions of Turkey.

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population.

The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants. The most prominent clinical symptoms were abdominal pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen different pathogenic variants were identified and the most frequent were p.Met694Val (20.0%), p.Glu148Gln (13.3%), p.Met680 Ile (11.7%) and p.Arg202Gln (11.7%). Abdominal pain, fever and arthritis were the most common presenting clinical characteristics. Results showed that not only clinical characteristics, but also genotyping of the MEFV gene is needed to establish the correct diagnosis of FMF in children and other family members.

Vertebrobasilar insufficiency and gamma-glutamyltransferase: An emerging relationship demonstrating inflammation and atherosclerosis.

OBJECTIVES: Vertebrobasilar insufficiency (VBI) is a pathology arising from the reduction in flow rate of vertebral arteries and mainly caused by inflammation and atherosclerosis. Gamma-glutamyltransferase (GGT) is a marker which has been recently recognized as a marker of inflammation and atherosclerosis. We aimed to investigate the relationship between GGT levels and VBI for the first time. METHODS: In this cross-sectional study, of 3100 subjects who had vertebrobasilar doppler ultrasonography (VBU) were evaluated and 1042 of them who met the inclusion criterias were included. VBU reports, GGT levels, blood chemistry, lipid profile were received from patients' files. Patients were evaluated according to VBU measurements and divided into two groups,VBI and non-VBI. RESULTS: Mean vertebral arterial blood flow volume values were 149.99±32.93 mL/m in VBI group and 286.88 ± 70.98 mL/m in non-VBI group. Mean GGT and CRP values were significantly higher in the VBI group than in the non-VBY group (p < 0.001) ( p < 0.001), respectively. Vertebral artery blood flow volume was negatively correlated with GGT (r: -0.208, p < 0.001) and CRP (r: -0.119, p < 0.001). CONCLUSION: We demonstrated a significant correlation between serum GGT levels and VBI. In addition, higher GGT level was an independent risk factor for the presence of vertebrobasilar system inflammation and atherosclerosis (Tab. 2, Fig. 3, Ref. 27).

Are blood pressure values compatible with medication adherence in hypertensive patients?

BACKGROUND AND AIM: In the management of hypertension (HT), maintaining the medication adherence with treatment is as important as starting treatment. Studies have shown that the majority of patients taking medication do not reach their target values. This study aimed to investigate the relationship between the patient medication adherence and blood pressure (BP) values and reflection to general well-being. MATERIAL AND METHODS: The study included 259 primary HT patients. The patients with BP measurements completed the Medication Adherence Self-Efficacy Scale-Short Form 13 and the World Health Organization-5 (WHO-5) well-being index. A Holter device was attached, and 24 h BP monitoring was completed. RESULTS: The mean points for medication adherence scale was 29.2 ± 10.3 (1-40) and mean WHO-5 points was 13.7 ± 4.6 (4-25) for patients. Clinical mean systolic BP was 140.0 ± 12.6 and diastolic 84.8 ± 9.0 mm Hg, while 24 h mean BP was systolic 119.5 ± 10.6 and diastolic 73.3 ± 8.1 mm Hg. While there was negative correlation between medication adherence scale scores and clinical systolic BP (r = -0.171; P = 0.006), there was no correlation with other BP readings. There was no correlation with the WHO-5 score and clinical readings, though there was a positive correlation between ambulatory mean systolic and diastolic BP (r = 0.141; P = 0.023 and r = 0.123; P = 0.049, respectively). There was positive correlation between the patient's medication adherence scores and the WHO-5 scores (r = 0.141; P = 0.023). CONCLUSION: When clinicians assess medication adherence of patients, they should benefit from objective BP measurements and scales. Subjective and objective findings are important while making clinical decision.

Does cerumen have a risk for transmission of HIV?

Human immunodeficiency virus (HIV) is mainly transmitted via sexual activity, mother-to-child transmission, and contact with body fluids, such as saliva and semen. Cerumen, however, has not been investigated for its capability to transmit HIV. The purpose of this study was to evaluate the potential of cerumen for transmission of HIV infection. This study was conducted among 42 treatment-naive HIV-infected patients with positive HIV RNA and 27 HIV-infected patients with negative HIV RNA receiving antiviral treatment. Simultaneous blood samples were studied as positive controls. Sixty-nine prospectively collected cerumen specimens were analyzed for the presence of HIV RNA by real-time polymerase chain reaction (PCR). None of the 69 cerumen specimens were positive for HIV RNA. These results conclude that cerumen in HIV-positive patients with or without antiretroviral therapy (ART) carry only an insignificant risk of transmission. However, standard infection control precautions should be applied carefully in all examinations and surgical operations of the ears.

Protective effect of glucagon-like peptide-2 in experimental corrosive esophagitis.

Corrosive esophageal injuries are one of the life-threatening morbidities leading to esophageal stricture and perforation affecting all age groups but especially children due to accidental ingestions in this age group. Glucagon-like peptide-2 (GLP-2) is an intestinal polypeptide with potent anti-inflammatory effects. Its effects are studied in various studies but not in corrosive esophagitis. We aimed to investigate whether it has protective effect in experimental corrosive esophagitis, in the absence of existing studies into possible links. Twenty-four Wistar-albino rats, weighing 220-240 g, were randomized into three groups (n = 8 in each). First group is control, second one is sham operated, and the third one is treatment group. Median laparotomy was made in all groups. In sham and treatment groups, esophagus was loosened and suspended from 1 cm proximal to the esophageal junction. The esophagus segment between suspenders was exposed to 0.1 mL 5% NaOH for 10 seconds. In the treatment group, rats were given GLP-2 for 7 days intraperitoneally. After 7 days, all rats were sacrified and esophagi were totally removed. In the histopathologic examination, esophageal tissues were compared in terms of inflammation, muscularis mucosa injury, and collagen deposition of tunica muscularis. Histopathologic changes in the esophageal tissues of groups were compared. Histopathologic injury in the GLP-2 treated group was significantly less than sham group (P < 0.05). There was statistically significant healing in the GLP-2 treatment group. It is concluded that GLP-2 has a preventive effect on inflammation and collagen accumulation in an experimental corrosive esophagitis. In the light of the information that initial lesions in the early phase are predictors of complications, GLP-2 is a promising agent that has an anti-inflammatory effect in caustic injuries.

Attention deficit and hyperactivity disorder and infantile colic.

AIM: Attention deficit and hyperactivity disorder (ADHD) and infantile colic (IC) are heterogeneous diseases which's cause are unknown. Besides the different hypotheses in the etiology of both disorders maldevelopment in the metabolism of neurotransmitters in the central nervous system have been implicated. The goal of this study is to investigate the relationship between IC and ADHD due to possible common etiological factor as maldevelopment in neurochemical process. METHODS: A case-control study was carried out. The sample included 114 (77.2% male) children who were medically diagnosed with AD/HD and 149 (67.1% male) healthy children who were chosen from the same hospital's pediatric clinic as the control group. Parents and teachers completed the Conners Parent Rating Scale (CPRS), Conners Teacher Rating Scale (CTRS) and the patients were evaluated with The Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV). The parents were asked questions on a survey form filled out. IC was defined according to Wessel's modified criteria. RESULTS: The mean age of AD/HD group was 10.14±2.48 years and 9.94±2.34 years in the non-AD/HD group. The rate of IC in AD/HD and non-AD/HD groups were 50.0% and 30.2%, respectively and the difference was statistically significant between two groups (P=0.001). Duration of IC was similar in the groups (P=143). CONCLUSION: IC may be a postnatal risk factor and marker for AD/HD during childhood. Both diseases may have a common mechanism. Such infants need to be examined and followed up more intensively.

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation.

We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and bilateral pseudocleft of the upper lip. Histopathological evaluation of cervical cutaneous defect showed ulceration on the surface and ectopic thymus tissue in the deep dermis with cortex, medulla and Hassal's corpuscles. Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum). DNA sequencing showed a novel heterozygous mutation, c.731T>C (p.L244P), in TFAP2A gene confirming the diagnosis of this rare autosomal dominant developmental disorder with variable clinical findings.

Relationship between periparturient diseases, metabolic markers and the dynamics of hair cortisol concentrations in dairy cows.

Hair cortisol concentration (HCC) might represent a promising marker for retrospective welfare assessment of dairy cows. The objective of the study was to explore the dynamics of HCC in diseased and healthy cows from eight-week ante partum (AP) to eight-week post partum (PP). Twenty-four pregnant cows were followed from drying off to week eight PP. Tail hair was used to measure cortisol at five different time points. The occurrence of peripartum diseases, lameness and the body condition score (BCS) were monitored on a weekly basis. Blood ß-hydroxybutyric acid, non-esterified fatty acids, calcium and insulin-like growth factor-1 (IGF-1) concentrations were measured. The temperature-humidity index (THI) was continuously recorded. The median values of HCC in all cows were 0.4, 0.3, 0.6, 0.8 and 0.5 pg/mg at weeks eight, four AP, calving, weeks four, eight PP, respectively. There was no association between HCC and the occurrence of peripartum diseases (P ≥ 0.05). A positive correlation between HCC and BCS loss (P < 0.01) and THI (P < 0.05) was observed. The occurrence of peripartum diseases was associated with low IGF-1 during the study period but no relationship was found between cortisol and IGF-1 levels (P ≥ 0.05). Brown Swiss cows showed higher HCC (P < 0.01) at weeks eight, four AP, and week four PP and lower average milk yield (P < 0.05) than Holstein-Friesian cows. In conclusion, HCC was not a suitable marker for peripartum diseases but it could reflect a stress response, which is linked to BCS loss, heat stress and breed.

A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation.

Inherited desmosomal cardiocutaneous syndromes are characterized by the quartet of woolly hair, palmoplantar keratoderma (PPK), skin fragility and cardiac abnormalities, which are caused by mutations in genes coding for desmosomal proteins. We describe a previously unrecognized autosomal recessive syndrome in a family with arrhythmogenic right ventricular cardiomyopathy associated with alopecia and PPK (named CAPK). Genetic investigation of the family led us to find a homozygous disease-causing mutation, p.R265H, in JUP which encodes plakoglobin, a well-described member of the desmosome complex. This study expands the clinical spectrum of disorders associated with germline mutations affecting desmosomal proteins by describing a novel phenotype.

Is nerve stimulation needed during an ultrasound-guided lateral sagittal infraclavicular block?

BACKGROUND: The objective of the study was to evaluate the influence of ultrasound (US) guidance alone vs. neurostimulation (NS) and US (NSUS) guidance techniques on block performance time and block success rate for the lateral sagittal infraclavicular block (LSIB). METHODS: In a randomized and prospective manner, 110 adult patients scheduled for distal upper limb surgery were allocated to the US or the NSUS groups. In the US group, a local anesthetic (LA) was administered only with US guidance to produce a 'U'-shaped distribution around the axillary artery. In the NSUS group, LA was administered under US guidance only after electrolocation of one of the median, ulnar or radial nerve-type responses. A total of 30 ml of LA (10 ml of levobupivacaine 5 mg/ml and 20 ml of lidocaine 20 mg/ml) was administered in both groups. Sensory block was tested at 10 min intervals for 30 min. Successful block was defined as analgesia or anesthesia of all five nerves distal to the elbow. RESULTS: Block success rate was 94.5% in both groups. Block performance time was significantly shorter in the US than the NSUS group (157 +/- 50 vs. 230 +/- 104 s) (P=0.000). Block onset time was similar in both groups (12.5 +/- 4.8 in the US vs. 12.8 +/- 5.4 min in the NSUS groups). There were two arterial punctures in the NSUS group. CONCLUSIONS: During LSIB performance US guidance alone produces block success rate identical to both US and NS guidance yet with a shorter block performance time.