Clinical and demographic features of hidradenitis suppurativa: a multicentre study of 1221 patients with an analysis of risk factors associated with disease severity.

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic, relapsing and debilitating inflammatory disease associated with profound morbidity. AIM: In this multicentre study, we investigated the demographic and clinical features of HS, and determined risk factors of disease severity. METHODS: In total, 1221 patients diagnosed with HS from 29 centres were enrolled, and the medical records of each patient were reviewed. RESULTS: The mean age of disease onset was 26.2 ± 10.4 years, and almost 70% (n = 849) of patients were current or former smokers. Mean disease duration was 8.9 ± 8.4 years with a delay in diagnosis of 5.8 ± 3.91 years. Just over a fifth (21%; n = 256) of patients had a family history of HS. The axillary, genital and neck regions were more frequently affected in men than in women, and the inframammary region was more frequently affected in women than in men (P < 0.05 for all). Acne (40.8%), pilonidal sinus (23.6%) and diabetes mellitus (12.6%) were the most prevalent associated diseases. Of the various therapies used, antibiotics (76.4%) were most common followed by retinoids (41.7%), surgical interventions (32.0%) and biologic agents (15.4%). Logistic regression analysis revealed that the most important determinants of disease severity were male sex (OR = 2.21) and involvement of the genitals (OR = 3.39) and inguinal region (OR = 2.25). More severe disease was associated with comorbidity, longer disease duration, longer diagnosis delay and a higher number of smoking pack-years. CONCLUSIONS: Our nationwide cohort study found demographic and clinical variation in HS, which may help broaden the understanding of HS and factors associated with disease severity.

Evaluating the Efficacy of Chemical Disinfectants on Contaminated Dental Materials Contaminated by An Airborne Disease Tuberculosis Similar to COVID-19.

BACKGROUND: Tuberculosis (TB) is a communicable disease as well as an airborne disease. Mycobacterium tuberculosis (MTB) could survive on dental materials shipped to dental laboratories. AIMS: The aim of this study was to determine the number of bacilli held on the prosthetic material and the effect of chemical disinfection agents on various prosthetic materials that were shipped to dental laboratory of TB patient. MATERIALS AND METHODS: The study consisted of three study groups, and a control group. 10 mm x 2 mm disc-shaped (n = 18 for each group, n = 72 in total) nickel-chromium alloy (Ni-Cr), polymethylmethacrylate (PMMA), and dental ceramic (DC) samples were prepared. After exposure to MTB 24 hours in a 37°C incubator, six samples for each group (PMMA), Ni-Cr alloy and a control group DC samples) were exposed to three disinfectants; 10 minutes into 2% glutaraldehyde, 10 minutes into 5% sodium hypochlorite, and 1 minute into alcohol-based disinfectant after vortexed in distilled water. Colony forming units (CFU/ml) were calculated per milliliters. Two-way ANOVA statistical analysis method was used, and a P value less than 0.05 was considered as significant. RESULTS: The bacteria count for six Ni-Cr alloy disc-shaped specimens were recorded as 40, 10, 8, 6, 5, and 4 CFU/ml, respectively. Intensity of the colonies were found to be lower in other groups. 5 CFU/ml were detected on a single PMMA sample in the control group, and 40 CFU/ml were detected on one of the dental ceramic sample. No MTB uptake was observed on any sample in the 2% glutaraldehyde and 5% NaOCl disinfectant study groups. In alcohol-based disinfectant group, 1 CFU/ml was observed on Ni-Cr alloy sample. The effect of prosthetic materials used in this experimental study were not statistically significant on the CFU (p = 0.293). However, the disinfectants use was statistically significant on the number of colonies (p = 0.004). CONCLUSION: NaOCl and glutaraldehyde appeared to be more effective than alcohol-based disinfectant in removing MTB from Ni-Cr alloy, PMMA and dental ceramic surfaces.

Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.

A 28-year-old woman underwent amniocentesis at 18 weeks' gestation upon detection of increased fetal nuchal fold and parietal cephalocele on the second trimester ultrasound examination. Prenatal microarray showed a de novo unbalanced translocation resulting in a gain in 6q and loss in 18p. A female infant was delivered at 38 weeks' gestation. At birth, cephalocele and webbed neck were noted as major dysmorphic features. The case presented here shows how a combination of different genetic studies is used to accurately elucidate a chromosomal anomaly in a prenatal setting.

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.

Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and de novo in 14 cases. Seven de novo cases were imbalanced (in postnatal series 33.3% and in de novo cases 50.0%). Out of 13 prenatal cases, five were familial and eight were de novo in origin and two de novo cases were imbalanced (in 15.4% prenatal series and in 25.0% de novo cases). No cryptic imbalance was observed in familial cases. The anomaly rates with array studies ranged between 14.3-25.0% in familial and between 20.0-57.5% in de novo cases of postnatal series in the literature. Studies focused on prenatal ABCR cases with abnormal ultrasound findings are limited and no submicroscopic imbalance was reported in the cohorts. When de novo postnatal or prenatal results were combined, the percentage of abnormalities detected by CMA was 40.9%. Taking this contribution into consideration, all ABCRs should be investigated by CMA even if the fetal ultrasound findings are normal.

PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH.

A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured amniocytes. Parental karyotypes were normal. The marker chromosome was found to be derived from chromosome 16 by FISH and array-CGH analysis. Genetic counseling was given to parents and the family decided to terminate the pregnancy. Dysmorphic findings including; low set ears, exophtalmos depressed nasal bridge, large mouth and lips, posture anomalies at the extremities were detected at autopsy.

PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13).

We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1PO woman was referred for amniocentesis at 17 weeks of gestation, because of a positive second trimester screening test for aneuploidy. A de novo pericentric inversion inv(2)(p11.2q13) was detected during conventional cytogenetic analysis. Array-CGH analysis of the fetus showed no subtle chromosomal imbalances at the breakpoints. Genetic counseling was given to the family and the family decided to continue the pregnancy. To our knowledge, our case is the third prenatally detected de novo case with inv(2)(p11.2q13), and also the first case in which molecular karyotyping analysis were also applied.

Association of uric acid and carotid artery disease in patients with ischemic stroke.

BACKGROUND AND PURPOSE: Some previous studies reported an independent association between uric acid and coronary artery disease, while little is known on the association among uric acid and carotid artery disease (CAD). To address this issue, we investigated the association between CAD and higher uric acid level because of the well-known importance of the carotid artery pathologies for ischemic stroke. METHODS: Between 2009 and 2012, we conducted a study among 406 consecutive first-ever ischemic stroke patients to assess the relationship between uric acid and carotid artery. A mean intima-media thickness IMT was calculated for the wall of the left and right common carotid arteries (CCA) and IMT of the bifurcation of the carotid arteries. CAD was assessed by neuroimaging techniques in patients with carotid artery stenosis more than 50%. Logistic regression models were used to determine the relation among pathological changes of the carotid artery and higher uric acid level. RESULTS: In patients with hyperuricemia, the frequency of age (>60 years), hypertriglyceridemia, higher apo B, renal failure were significantly higher than those with normal uric acid level. CAD was more frequent in patients with hyperuricemia than those with normal uric acid level (OR, 1.8, 95% CI, 1.1-3.1; P = 0.01). In patients with higher uric acid level, the mean of the IMT of the CCA and of the bifurcation of the carotid artery were higher than those with normal uric acid level (P = 0.001 for each). Covariance matrix analysis displayed a strong correlation between CAD and age (>60 years) (P < 0.05), sex (P < 0.01), hyperuricemia (P < 0.01), hypertension (P < 0.05), and hypercholesterolemia (P < 0.05). In the models of regression analysis, a strong association was found among patients with CAD and sex, renal failure, hyperuricemia, number of plaques, and size of plaques. CONCLUSION: Our study demonstrated that higher uric acid level is strongly associated with CAD. Elevated uric acid might be injurious for large cerebral arteries with some probable confounding risk factors. Further prospective large clinical trials will determine whether lowering uric acid level reduces the frequency of CAD and ischemic stroke.

Hospital admissions for anaphylaxis in Istanbul, Turkey.

BACKGROUND: There are very limited data characterizing the epidemiology of anaphylaxis from low- and middle-income country settings. We aimed to estimate the frequency of anaphylaxis admissions to hospitals in Istanbul. METHODS: We obtained data from all 45 hospitals in Istanbul over a 12-month period and used ICD-10 codes to extract data on those admitted with a recorded primary diagnosis of anaphylaxis. Because of concerns about possible under-coding, we undertook an additional analysis to identify patients admitted with two or more clinical codes for symptoms and/or signs suggestive of, but not coded as having, anaphylaxis. RESULTS: A total of 114 cases (79 people with anaphylaxis codes and 35 with symptoms and signs suggestive of anaphylaxis) were identified, giving an overall estimate of 1.95 cases per 100 000 person-years. CONCLUSION: The novel two-stage identification approach employed suggests significant under-recording of anaphylaxis in those admitted to hospitals in Istanbul.

Results of combined preoperative direct percutaneous embolization and surgical excision in treatment of carotid body tumors.

BACKGROUND: Carotid body tumors are infrequent neoplasms in daily practice. Diagnostic difficulties exist because of their slow growth and asymptomatic progress. The surgical treatment is complicated and difficult due to their proximity to vascular and neural structures. In this study we present the results of 12 patients operated for carotid body tumor that underwent preoperative percutaneous direct embolization. PATIENTS AND METHODS: The data of 12 patients, diagnosed with carotid body tumor and surgically treated at our department between 2000 and 2010, was retrospectively analyzed. Duplex ultrasound, computerized tomography and selective carotid angiography were the applied diagnostic tools. Two days before the planned surgery all patients underwent percutaneous direct embolization to achieve devascularization of the tumor. Afterwards, surgical excision of the mass under general anesthesia was performed in all cases. RESULTS: Five tumors were classified as Shamblin type I (41.7%), and the others were type II (58.3%). All masses were removed sub-adventitially and no vascular reconstruction was necessary. There was no mortality and no permanent neural damage. Malfunction of the tongue was observed in only one case, which recovered completely in one month. There was one recurrence detected by Duplex ultrasound and angiography during the follow up period. CONCLUSIONS: Surgical excision is mandatory to be performed as soon as diagnosed in carotid body tumors. Preoperative direct percutaneous embolization of the mass helps to devascurize the tumor, enabling an optimal surgical procedure. The outcomes of such a combined intervention are excellent and neurovascular structure preservation decreases complication and morbidity rates.

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1).

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).

Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.

We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex ligation-dependent probe amplification and by targeted next-generation sequencing of DMD revealed definitive genetic diagnoses in 214 patients (82%), with gross deletions/duplications in 153 (59%), pathogenic sequence variants in 60 (23%), and X-autosome translocation in one. Seven of the gross and 27 of the sequence variants found novel. In silico prediction, co-segregation and transcript assays supported the pathogenic nature of the novel silent (p.Lys534=) and the splice site (c.4345-12C>G) alterations. From a total of 189 singleton cases, 154 (82%) had pathogenic alterations. From 138 of those who had maternal carrier testing, 68 out of 103 (66%) showed gross and 11 out of 35 (31%) showed small pathogenic variants. This suggests that the de novo occurrences in DMD appear approximately 2.1 times more frequently in meiotic unequal crossing-over than in uncorrected replication errors. Our study also disclosed three mothers as obligate gonadal mosaic carriers. Family-based investigation of dystrophinopathy patients is crucial for the ascertainment of novel or rare variants and also for counseling and follow-up care of the families.

Vena cava superior syndrome developing in a dialysis patient with antithrombin III deficiency following temporary catheterization.

Despite being widely reported in patients with neoplasms, vena cava superior (VCS) syndrome linked to thrombosis is a major catheter complication that can be encountered during the use of the hemodialysis catheter. Antithrombin III (AT-III), responsible for a large part of thrombin inactivation capacity in plasma, is the most powerful inhibitor of the thrombosis process. This report describes a case of VCS syndrome developing two weeks following the extraction of a right-sided subclavian catheter in a patient transferred from peritoneal dialysis to hemodialysis for one week due to leakage. The patient presented complaining of swelling and pain in the right arm. At Doppler examination, total thrombosis was observed in the subclavian and internal jugular vein. At advanced examinations due to lack of response to heparin and clinical worsening, VCS and AT-III deficiency were determined. Following thrombolytic therapy with streptokinase, AT-III levels were raised by the administration of plasma, and clinical and radiological stabilization was established by continuing heparin and continuous oral anticoagulant therapy.

hKChIP2 is a functional modifier of hKv4.3 potassium channels: cloning and expression of a short hKChIP2 splice variant.

OBJECTIVE: The Ca(2+) independent transient outward K(+) current (I(to1)) in the heart is responsible for the initial phase of repolarization. The hKv4.3 K(+) channel alpha-subunit contributes to the I(to1) current in many regions of the human heart. Consistently, downregulation of hKv4.3 transcripts in heart failure and atrial fibrillation is linked to reduction in I(to1) conductance. The recently cloned KChIP family of calcium sensors has been shown to modulate A-type potassium channels of the Kv4 K(+) channel subfamily. METHODS AND RESULTS: We describe the cloning and tissue distribution of hKChIP2, as well as its functional interaction with hKv4.3 after expression in Xenopus oocytes. Furthermore, we isolated a short splice variant of the hKChIP2 gene (hKCNIP2), which represents the major hKChIP2 transcript. Northern blot analyses revealed that hKChIP2 is expressed in the human heart and occurs in the adult atria and ventricles but not in the fetal heart. Upon coexpression with hKv4.3 both hKChIP2 isoforms increased the current amplitude, slowed the inactivation and increased the recovery from inactivation of hKv4.3 currents. For the first time we analyzed the influence of a KChIP protein on the voltage of half-maximal inactivation of Kv4 channels. We demonstrate that the hKChIP2 isoforms shifted the half-maximal inactivation to more positive potentials, but to a different extent. By elucidating the genomic structure, we provide important information for future analysis of the hKCNIP2 gene in candidate disorders. In the course of this work we mapped the hKCNIP2 gene to chromosome 10q24. CONCLUSIONS: Heteromeric hKv4.3/hKChIP2 currents more closely resemble native epicardial I(to1), suggesting that hKChIP2 is a true beta-subunit of human cardiac I(to1). As a result hKChIP2 might play a role in cardiac diseases, where a contribution of I(to1) has been shown.

Effects of varying mandibular protrusion and degrees of vertical opening on upper airway dimensions in apneic dentate subjects.

INTRODUCTION: Despite numerous studies investigating the dimensional and therapeutic effects of mandibular advancement splints (MASs), data regarding the effects of differently designed individual and non-adjustable MASs on the upper airway in fully dentate apneic subjects in the sagittal plane including comparison of these effects with a placebo device are sparse. The present study aimed to determine the dimensional changes in the sagittal plane created by differently designed MASs in the upper airway in fully dentate apneic subjects and to compare these changes with the effects of a placebo device. MATERIALS AND METHODS: Magnetic resonance (MR) images of 9 dentate apneic subjects with 5 differently designed MASs and without a MAS were obtained. We measured the area of the entire pharynx (velopharynx, oropharynx, hypopharynx) on these MR images and compared the dimensional changes. RESULTS: The dimensional changes triggered by two specific MASs (75% of the maximum mandibular protrusion with 5 mm vertical opening, and 75% of the maximum mandibular protrusion with 10 mm of vertical opening) in the entire pharynx in the sagittal plane were statistically significant compared to the other MASs (p < 0.05). The MAS effecting 75% of the maximum mandibular protrusion and 10 mm of vertical opening created a significant dimensional increase only in the velopharyngeal area among the three pharyngeal sites (p ≤ 0.003). CONCLUSION: While the degree of mandibular protrusion created by the MAS affects the dimensions of the upper airway, the degree of the vertical opening exerts no significant dimensional effect in the sagittal plane in fully dentate apneic patients. The mandibular protrusion effect is comparatively larger in the velopharyngeal region.

Amyloidoma of the CNS. I. Clinical and pathologic study.

We report a 32-year-old man with a 4-year history of headaches, seizures, and dementia secondary to multifocal amyloidomas in the white matter. Immunohistochemical and electron microscopic analyses suggest that the amyloidomas resulted from processing of plasma-cell-derived amyloidogenic protein by microglial cells.

MRA detection of vascular occlusion in a child with progeria.

We report a case of progeria and the utility of visualizing the cerebrovascular anatomy by using MR angiography. A 4-year-old child with Hutchinson-Guilford syndrome developed symptoms of ischemia and MR angiography showed bilateral occlusion of internal carotid and vertebral artery origins; the anterior spinal artery was prominent.