Neurocognitive Impairment in Patients With Ataxia Telangiectasia and Their Unaffected Parents: Is It Similar?

BACKGROUND: Ataxia telangiectasia (AT) is a genetic multisystemic disorder affecting the nervous system. Data on neurocognitive functioning in AT are limited and focused on patients at various stages of disease. Because of the genetic nature of the disorder, parents of patients may also display subtle neurological problems. This study aimed to evaluate neurocognitive functioning in patients with AT and their unaffected parents. METHODS: The study included 26 patients with AT and 41 parents among which 13 patients and 18 parents were evaluated with neurocognitive tests. Clinical and radiological data were reviewed retrospectively. Data were analyzed with descriptive statistics. RESULTS: The median ages of patients and parents were 12.5 years (interquartile range [IQR] = 9.5) and 38.0 years (IQR = 12.0), respectively. Median intelligence quotients were 62.0 (IQR = 21.3) and 82.5 (IQR = 16.8), respectively, for patients and parents. Rates of intellectual disability for patients and parents were 100.0% and 83.3%, respectively. Areas of impairment in patients in decreasing order of frequency were motor skills, visual perception/memory, visual-manual coordination, spontaneous/focused and sustained attention (100.0% for each), social judgment, as well as vocabulary and arithmetic skills (75.0% for each). Areas of impairment in unaffected parents in decreasing order of frequency were visual-manual coordination (77.8%), working memory (76.5%), and visual perception and motor skills (66.7% for each). CONCLUSION: Intellectual disabilities, visual-spatial disabilities, and reduced visual-motor coordination seem to be similar in patients with AT and their parents. These results should be replicated with larger samples from multiple centers and may form putative cognitive endophenotypes for the disorder.

Evaluation of Hepatosteatosis-Induced Increase in Fibrosity by Two-Dimensional Shear Wave Elastography in Children with Obesity and Comparison with Healthy Peers.

OBJECTIVE: The increase in the prevalence of obesity, nonalcoholic fatty liver disease (NAFLD), and related comorbidities in children creates a social and financial burden. In our study, we aimed to evaluate liver findings together with anthropometric and laboratory data with twodimensional shear wave elastography (2D-SWE), one of the SWE types, which is a noninvasive method for assessing tissue stiffness in children with obesity, and to obtain quantitative data that can be used in early diagnosis and follow-up. MATERIALS AND METHODS: In our single-center, observational cross-sectional study, liver gray scale findings, 2D-SWE findings, anthropometric measurements, and laboratory values of 48 children with obesity and 50 healthy children aged between 5 and 18 years, both between groups and in prepubertal and pubertal subgroups, are compared. RESULTS: A significant difference was found in the liver stiffness indicator kilopascal (kPA) values and between aspartate aminotransferase values in the prepubertal period and alanine aminotransferase values in the pubertal period (P < .001). No significant difference was found between insulin, HOMA-IR, waist circumference, waist/height ratio, and kPA. CONCLUSION: Two-dimensional shear wave elastography can be easily applied in the pediatric population as a practical, noninvasive, reproducible, and highly compatible technique. In this regard, 2D-SWE may be useful in the early diagnosis and follow-up of hepatosteatosis and fibrosis in children with obesity and NAFLD-risky cases.

Clinical correlation of 2D shear wave elastography findings in children with type 1 diabetes mellitus without autoimmune thyroiditis.

OBJECTIVES: The aim of study was to evaluate the 2D shear wave sonoelastography (SWE) findings of the thyroid gland in children with type 1 diabetes mellitus (T1DM) with normal gray-scale findings and without thyroid autoimmunity (AIT) and obtain data that will be useful for the early detection of glandular involvement. METHODS: The study included 46 T1DM patients (mean age: 11.28 ± 3.3 years) and 46 healthy children (mean age: 12.01 ± 3.8 years) as the control group. The thyroid gland mean elasticity value was obtained as kPa and compared in groups. A correlation was investigated between elasticity values and age at diabetes, serum free T4, thyroid stimulating hormone (TSH), anti-thyroglobulin, anti-tissue peroxidase, and hemoglobin A1c values. RESULTS: No difference was found between T1DM patients and the control group in the thyroid 2D SWE evaluation (the median kPa value: 17.1 (10.2) in the study group and 16.8 (7.0) in the control group) (p=0.15). No significant correlation was found between 2D SWE kPa values and age at diagnosis, serum free T4, TSH, anti-thyroglobulin, anti-tissue peroxidase, and hemoglobin A1c levels in T1DM patients. CONCLUSIONS: Our study showed that the elasticity of the thyroid gland in T1DM patients without AIT was not affected differently from that of the normal population. If 2D SWE is used in routine follow-up in T1DM patients before the development of AIT, we think that it will be useful in the early detection of thyroid gland affections and AIT, and long-term comprehensive studies in this direction will contribute to the literature.

Evaluation of the effect of pancreatic volume on mortality in patients with acute pancreatitis.

BACKGROUND: Pancreatic volume is enlarged in acute pancreatitis. OBJECTIVE: This study aimed to evaluate whether there was a difference in pancreatic volume between survivors and non-survivors with acute pancreatitis using computer-generated 3D imaging. METHOD: This single-center retrospective observational cohort study was conducted between January 2015 and December 2020. The hospital automation system was used to get the patients diagnosed with acute pancreatitis by using International Classification of Diseases (ICD) (ninth edition, code 577.0 or 10th version, code K 85.0) codes. The patients' pancreatic volumes, computed tomography severity index (CTSI), and modified computed tomography severity index (mCTSI) scores were calculated using the data obtained from the hospital automation system. The pancreatic volumes of the patients were measured using the computer-generated 3D imaging method. Pancreatic volume, CTSI, and mCTSI were then statistically compared in terms of mortality prediction by using the receiver operating characteristic (ROC) analysis. RESULTS: Of the 143 patients, 57.34% were female and 42.66% were male. The cut-off value of pancreatic volume in determining mortality was>81.5 cm3 OR:17.43 (%95 CI: 2.2-138.1) Cohen's d:1.126, at which it had 92.3% sensitivity, 60.0% specificity, 18.8% positive predictive value, and 98.7% negative predictive value. As a result of the ROC analysis of pancreatic volume in mortality prediction, the area under curve (AUC) value was determined as 0.787 [95% confidence interval (CI): 0.711-0.851]. The ROC analysis of the CTSI and mCTSI scores in mortality prediction revealed AUC values of 0.822 (95%CI: 0.750-0.881) and 0.955 (95%CI: 0.907-0.983) respectively. CONCLUSION: Although CTSI scores pancreatic enlargement and mCTSI scores pancreatic necrosis and inflammation, the pancreatic volume value is not clearly scored in both. In this study population, pancreatic volume above 81.5 cm was associated with increased mortality. Both CTSI and mCTSI scores outperformed pancreatic volume in predicting mortality.

COVID-19 disease characteristics in different pediatric age groups.

INTRODUCTION: Little is known about the COVID-19 disease characteristics and differences between different pediatric age groups. This study aimed to investigate the disease characteristics according to age groups. METHODOLOGY: We conducted a retrospective, single-center study of pediatric COVID-19 in a tertiary care hospital in Turkey. The patients were divided into three groups: 15 days-24 months old (Group 1), 25-144 months old (Group 2), and 145-210 months old (Group 3) according to age. RESULTS: A total of 139 pediatric patients with COVID-19 were examined. Twenty-nine patients (20.9%) were in Group 1, 52 (37.4%) were in Group 2, 58 (41.7%) were in Group 3. Thirty-nine patients (28.1%) were hospitalized. The most common symptoms were cough (55.4%) and fever (51.8%). The median chest X-ray (CXR) score of hospitalized patients was 1 (min 0-max 7), and the median CXR score of outpatients was 1 (min 0-max 6). Fever was significantly more frequent in Group 1, and chest pain was more frequent in Group 3. Group 1 had significantly higher WBC, lymphocyte, thrombocyte counts, AST, LDH, D-dimer, and Troponin T levels but lower hemoglobin, total protein, and albumin levels. The treatment included antibiotics, oseltamivir, hydroxychloroquine, and supportive therapy. Only one patient (0.7%) received non-invasive mechanical ventilatory support. CONCLUSIONS: As we know the clinical course of COVID-19 in children is less severe than in adults. We also found significant differences in both clinical and laboratory findings between different pediatric age groups which supports the theory that disease pathogenesis is highly variable according to age.

Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses.

BACKGROUND: Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS-CoV-2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID-19 outcomes. METHODS: We studied 34 IEI patients (19M/15F, 12 [min: 0.6-max: 43] years) from six centers. We diagnosed COVID-19 infection by finding a positive SARS-CoV-2 PCR test (n = 25) and/or a lung tomography scoring (CORADS) ≥4 (n = 9). We recorded clinical and laboratory findings prospectively, fitted survival curves, and calculated fatality rates for the entire group and each IEI subclass. RESULTS: Nineteen patients had combined immune deficiency (CID), six with predominantly antibody deficiency (PAD), six immune dysregulation (ID), two innate immune defects, and one in the autoinflammatory class. Overall, 23.5% of cases died, with disproportionate fatality rates among different IEI categories. PAD group had a relatively favorable outcome at any age, but CIDs and IDs were particularly vulnerable. At admission, presence of dyspnea was an independent risk for COVID-related death (OR: 2.630, 95% CI; 1.198-5.776, p < .001). Concerning predictive roles of laboratory markers at admission, deceased subjects compared to survived had significantly higher CRP, procalcitonin, Troponin-T, ferritin, and total-lung-score (p = .020, p = .003, p = .014, p = .013, p = .020; respectively), and lower absolute lymphocyte count, albumin, and trough IgG (p = .012, p = .022, p = .011; respectively). CONCLUSION: Our data disclose a highly vulnerable IEI subgroup particularly disadvantaged for COVID-19 despite their youth. Future studies should address this vulnerability and consider giving priority to these subjects in SARS-Cov-2 therapy trials.

Diagnosis and Management of Coronavirus Disease 2019 (COVID-19): Patients with Presented with Abdominal Pain, Fever and Shortness of Breath in Pandemic.

The aim of this study was to evaluate the admission chest and abdominal computed tomography (CT) findings of patients who presented to the emergency department with complaints of abdominal pain, fever, and shortness of breath and who had RT-PCR-confirmed COVID-19 infection. Seventy-five patients with RT-PCR-confirmed (in laboratory) COVID-19 infection who underwent chest and abdominal CT were included in the study. The radiological scales [the COVID-19 Reporting and Data System (CO-RADS) and severity score] of the chest and abdominal findings were examined on CT images. Forty-one (54.7%) patients were male and 34 (45.3%) were female. The mean age of the patients was 63.03 (range 24-89) years. The most frequently calculated CO-RADS score was found to be 5 (n = 53, 70.7%). Bilateral (72.0%) and multibolar (74.7%) involvement, peripheral (72.0%) and posterior (60.0%) distribution, and ground-glass opacity (66.7%) pattern were the most common pulmonary findings. A positive correlation was observed between CO-RADS and total severty score (p < 0.001). All patients were hospitalized. One (1.3%) patient was surgically treated because of acute appendicitis. Nine (12.0%) patients were admitted to the intensive care unit. Six (8.0%) patients died in the intensive care unit. Patients presenting to the emergency department with both abdominal and respiratory complaints during the pandemic should be evaluated for COVID-19. Patients can be diagnosed early with the data collected from CT without waiting for the PCR result. Hospital staff can take the necessary protective measures against virus transmission early, minimizing the in-hospital transmission of the virus.

A modified suprasternal approach in transthoracic echocardiography for isolated left upper partial anomalous pulmonary venous connection: Hard to diagnose, easy to miss.

BACKGROUND: Isolated left upper partial anomalous pulmonary venous connection (PAPVC) via the innominate vein to the right atrium is a rare congenital anomaly. This study was undertaken to determine the efficacy of a modified suprasternal view in transthoracic echocardiography (TTE) for the detection of left upper PAPVC. METHODS: After the incidental diagnosis of left upper PAPVC in our first patient in 2008, we added a modified suprasternal view to all TTEs performed in our pediatric cardiology clinic. This was obtained by tilting the tail of the probe 30-450 towards the right shoulder of the patient during suprasternal long axis view for a better visualization of the innominate vein. RESULTS: Among 7200 patients who underwent TTEs between 2008 and 2020, we identified 13 patients with left upper PAPVC into the innominate vein. All were asymptomatic children with normal cardiac chambers and no accompanying congenital disorders. In 10 cases, diagnoses were confirmed by multi-slice computerized tomography, whereas one patient underwent catheterization for confirmation. CONCLUSION: Isolated left upper PAPVC to the innominate vein is a rare congenital disorder that can be present in asymptomatic children with normal cardiac chambers. TTE, with a modified approach in suprasternal long axis view, has a high diagnostic value in the detection of this condition.

A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome.

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disease, also known as EDS type IV. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000 with EDS type IV representing approximately 5-10% of the cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. vEDS diagnosis is a challenging process. Patients usually have different phenotypic features and are unaware of the diagnosis at the time of initial vascular complications. The authors report the case of a 39-year-old male patient with EDS type IV, who developed internal carotid artery dissection and was diagnosed with clinical findings, imaging modalities, and a novel pathogenic COL3A1 variant.

Normative Data of Thyroid Volume-Ultrasonographic Evaluation of 422 Subjects Aged 0-55 Years.

OBJECTIVE: To establish local normative data of thyroid volume assessed by ultrasonography in subjects aged 0-55 years living in Istanbul, Turkey. METHODS: Subjects without any known history of thyroid disease, of major surgery and/or chronic disease were enrolled in the study and evaluated by physical examination and thyroid ultrasonography. Thyroid gland and isthmus at usual location, each lateral lobe volume with three dimensions, ectopic thyroid tissue and echogenicity of the gland were assessed. RESULTS: Initially, 494 subjects were enrolled in the study. Subjects showing heterogeneous thyroid parenchyma (n=21) and/or nodule (n=51) in ultrasonography were excluded. Final analysis covered 422 subjects (216 males, 206 females). Thyroid volume was found to significantly correlate with height, weight, age and body surface area (r=0.661, r=0.712, r=0.772 and r=0.779, respectively; p<0.0001 for all). These correlations were even stronger in subjects younger than 18 years (r=0.758, r=0.800, r=0.815 and r=0.802, respectively; p<0.0001 for all). CONCLUSION: The study provides updated reference norms for thyroid volume in Turkish subjects which can be used in the diagnosis and follow-up of patients with thyroid diseases.

Carotid endarterectomy using a "home-constructed" shunt for patients intolerant to cross-clamping.

PURPOSES: There is a small minority of patients with occlusive carotid artery disease, who are at high-risk for general anesthesia because of their intolerance to carotid flow blockage, even if only for seconds, without neurologic deficit. Even <30 s of temporary clamping of the carotid arteries to deploy a shunt may prove eventful in this patient group. We define safe carotid endarterectomy after the insertion of a novel shunt that we made from simple medical equipment in this patient population. METHODS: Among 65 patients who underwent carotid endarterectomy between March 2010 and December 2012, 5 (7.7 %; 3 men and 2 women; age range 56-77 years) could not tolerate carotid clamping. We used an alternative carotid shunt, made by us from simple equipment in our clinic, during surgery for these patients. RESULTS: Two patients had bilateral lesions and the remainder had unilateral disease. The degree of stenosis ranged from 70 to 95 %. Temporary carotid clamping resulted in neurologic events, such as loss of consciousness in all and tremor in one, in <10 s (range, from immediately to 8 s after clamping). Full neurologic function was regained 15-30 s after releasing the clamps. All of the patients tolerated the procedures well with the support of our novel shunt. Shunt flow was adequate in all patients and no neurologic deterioration occurred after carotid clamping. The mean carotid clamp time was 28.11 ± 14.19 min. There was no mortality and all patients were followed up for a mean period of 9.3 ± 3.6 months, uneventfully. CONCLUSIONS: An alternative, simple shunt, which is easily constructed in the operating room or clinic, using an angiocatheter, a three-way stopcock, and a serum line can provide adequate cerebral flow and permit safe carotid endarterectomy for those rare patients with carotid artery stenosis, who cannot tolerate even seconds of carotid occlusion.

[Early and late outcomes of carotid artery stenting]. / Karotis arter stentlerinin erken ve geç sonuçlari.

OBJECTIVE: Carotid artery stenting is a new approach alternative to surgical carotid endarterectomy. Cerebral protection devices improved the applicability of this technique. In this study, we evaluated applicability, safety and late clinical outcomes of percutaneous interventions for carotid artery stenosis. METHODS: A prospective study included 26 patients (15 female, 11 male, mean age 70+/-16 years) undergoing percutaneous transluminal angioplasty and stenting with different sizes of balloons and stents for 28 internal carotid artery stenoses at Kadir Has University Department of Interventional Radiology between March 2002 and December 2004. Ten patients were asymptomatic, one had amaurosis fugax, four had transient ischemic attack within last four months, one had drop attacks, one had headache, seven had the findings of hemiparesis and three had hemiplegia. RESULTS: Stenosis rates were calculated according to North America Symptomatic Carotid Endarterectomy Trial. Median stenosis rate was 85% (range: 60%-95%). All of the 28 internal carotid artery stenoses were managed with balloon dilatation and stenting (technical success rate 100%). Median residual stenosis rate after procedure was 14% (range: 0%-30%). Asystole developed in five patients and bradycardia in eight patients. Ipsilateral middle cerebral artery infarction occurred in two patients. One patient had intracranial reperfusion bleeding four hours after the procedure. No procedural death was observed within one month of follow-up. One patient died of myocardial infarction four months after the procedure. Cranial computed tomography revealed multiple metastases in one patient complaining of intractable headache and primary source was found to be pulmonary carcinoma. No stent restenosis was defined at Doppler ultrasonographic examinations performed 6 and 12 months after procedures with normal flow patterns and velocities. Two patients underwent control angiography at 12th month and myointimal proliferations with insignificant obstruction (25% and 30%) were detected. CONCLUSION: Carotid artery stenting seems to be applicable and safe procedure but it is associated with infrequent major complications. Results of studies comparing surgery and angioplasty will be helpful in defining role of stenting in the treatment of carotid occlusive disease.

Tuberculosis of the parotid gland.

Tuberculosis of the parotid gland is very rare and clinically indistinguishable from a neoplasm. Thus the diagnosis of parotid gland involvement with tuberculosis has traditionally been made after surgical resection. We present a case which was diagnosed on fine needle aspiration cytology and managed medically.