Leptospirosis during the COVID-19 pandemic: a case report

ms. Leptospirosis is one of the most common zoonoses in the world, yet it is mainly a disease of differential diagnosis for places that do not have it as an endemic. Due to the high burden of COVID-19 on the healthcare field, patients suffering from other infections may have been inadvertently neglected. COVID-19 infection can mimic other infectious diseases and can confuse physicians in their search for a confirmatory diagnosis. Nonetheless, it is very crucial to broaden the differential diagnosis and keep diseases like leptospirosis within the differential diagnosis despite its rarity, especially in patients presenting with unexplained systemic infectious symptoms. This is a unique case of a patient who presented with dyspnea, jaundice and change in urine color who was suspected to be COVID-19 positive. After a detailed investigation, the patient was diagnosed with leptospirosis instead of COVID-19 and was treated with plasmapheresis and antibiotics accordingly

Scanning of obstructive sleep apnea syndrome using smartwatch: A comparison of smartwatch and polysomnography

BACKGROUND: Obstructive Sleep Apnea Syndrome (OSAS), which significantly impairs nighttime sleep quality and causes excessive daytime sleepiness, not only reduces the quality of life of patients, but also increases the social and socioeconomic burden. Wearable-noninvasive devices can provide faster OSAS screening and follow-up. Smartwatches as an objective, non-invasive, practical and relatively inexpensive method, they are attractive candidates for pre-evaluation of OSAS and referral to a physician. In this study, it was aimed to evaluate the effectiveness of a smart watch in detecting OSAS findings compared to the gold standard polysomnograhy (PSG). METHODS: PSG data of the study group were compared with data such as SpO2, heart rate and saturation obtained by smartwatch from both sides, and the Cohen's kappa was used to measure for two methods and predictive values were evaluated. RESULTS: A total of 115 participants [44 female (38.3%), mean age (SD): 49.24 (11.39)] were enrolled. 75 (65.22%) of the participants were diagnosed with OSAS, of which 29 (25.22%) participants have severe OSAS. The smartwatch showed good sensitivity (75% to 96%), specificity (79% to 91%), and diagnostic accuracy (AUC: 0.84 to 0.93) in predicting apnea and severe apnea, respectively. The highest agreement between PSG and smartwatch and the diagnostic ability of smartwatch were found in persons with severe OSAS. CONCLUSION: The high PPV-NPV values in our study and the good compatibility coefficient of the smart watch with the PSG device can contribute to the expansion of the usage areas of smart watches that come into the lives of many people in daily practice

Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey

Leukocyte adhesion deficiency type I is a rare primary immunodeficiency disorder characterized by mutations in the ITGB2 gene encoding CD18. We present clinical and immunological features of 15 patients with leukocyte adhesion deficiency type 1 (LAD-1). Targeted next-generation sequencing was performed with either a primary immunodeficiency gene panel comprising 266 genes or a small LAD-panel consisting of five genes for genetic analysis. To measure the expression level of integrins on the leukocyte surface, flow cytometry analysis was performed. The median age of the patients at diagnosis was 3 (1–48) months. Eleven (73%) of the 15 patients had a LAD-1 diagnosis in their first 6 months and 14 (93%) patients had consanguineous parents. Delayed separation of the umbilical cord was present in 80% (n = 12) of the patients in our cohort, whereas omphalitis was observed in 53% (n = 8) of the patients. Leukocytosis with neutrophil predominance was observed in 73% (n = 11) patients. Nine distinct variants in the ITGB2 gene in 13 of the 15 patients with LAD-1 were characterized, two of which (c.305_306delAA and c.779_786dup) are novel homozygous mutations of ITGB2. Four unrelated patients from Syria had a novel c.305_306delAA mutation that might be a founder effect for patients of Syrian origin. Four (27%) patients underwent hematopoietic stem cell transplantation. Two patients died because of HSCT complications and the other two are alive and well. Early differential diagnosis of the patients is critical in the management of the disease and genetic evaluation provides a basis for family studies and genetic counseling

Cystic fibrosis in Turkey: First data from the national registry.

Background Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Methods The data were collected using a data-entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively. Results There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo-Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients. Conclusions Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future

Clinical characteristics of patients requiring lung transplantation referral in national cystic fibrosis registry data

Background. We aimed to determine the number of cystic fibrosis (CF) patients recorded in the Cystic Fibrosis Registry of Türkiye (CFRT) who were in need of lung transplantation (LT) referral and examine clinical differences between patients who were LT candidates due to rapid forced expiratory volume in one second (FEV₁) decline and LT candidates without rapid FEV₁ decline in the last year to identify a preventable cause in patients with such rapid FEV₁ decline. Methods. All CF patients recorded in the CFRT in 2018 were evaluated in terms of LT. Patients were divided into those with FEV₁ below 50% and in need of LT due to a decrease of 20% or more in the previous year (Group 1) and those who did not have FEV₁ decline of more than 20% in the previous year but had other indications for LT (Group 2). Demographic and clinical features were compared between the two groups. Results. Of 1488 patients registered in CFRT, 58 had a need for LT. Twenty patients were included in Group 1 and others in Group 2. Our findings did not reveal any significant variations in treatment, chronic infection status, or complications between the two groups. The average weight z-score was significantly higher in Group 1. Positive correlations were detected between weight z-score and FEV₁ in 2017 in Group 1 and between FEV₁ values in 2017 and 2018 in Group 2. Conclusions. There appears to be a relationship between the nutritional status and weight z-scores of CF patients and pulmonary function, which may indirectly affect the need for lung transplantation referral