Nephropathic cystinosis in Poland: a 40-year retrospective study.

INTRODUCTION: Nephropathic cystinosis (NC) is a rare, autosomal recessive disorder leading to lysosomal accumulation of cystine. It is caused by mutations in the CTNS gene encoding a cystine cotransporter cystinosin. The infantile (INC) and juvenile (JNC) forms are distinguished. The former, responsible for 95% of cases, is characterized by development of renal Fanconi syndrome, end-stage kidney disease (ESKD), and extrarenal complications. A therapy with cysteamine significantly improves outcomes. There are limited data on NC in the Central Eastern European countries. OBJECTIVES: We aimed to evaluate the prevalence, genetic background, and clinical course of NC in the Polish population. PATIENTS AND METHODS: We performed a retrospective analysis of data of all identified NC patients in Poland. RESULTS: Between 1982 and 2017, 15 patients with NC (13 ICN, 2 JCN) were identified. The most common mutations of the CTNS gene were c.18_c.21delGACT and c.681+1G>A, whereas only 2 patients carried the 57 kb deletion. The majority (11/13) of INC patients with limited access to the cysteamine therapy developed ESKD at a median age of 11 years and 9 of them received kidney transplants. Three INC patients died at a median age of 24 years. In contrast, 2 INC patients treated adequately present normal kidney function and growth at the age of 13 and 11 years. Two JNC patients presented a milder course. CONCLUSIONS: The prevalence of NC in Poland is much lower than in the Western countries and its molecular background appears to be different. The unfavorable course in the majority of INC patients was caused by a limited access to the cysteamine treatment.

Low prevalence of diabetic retinopathy in patients with long-term type 1 diabetes and current good glycemic control - one-center retrospective assessment.

PURPOSE: Despite progress in type 1 diabetes (T1DM) therapy, diabetic retinopathy (DR) is still a common complication. We analysed predictors and prevalence of DR in patients with T1DM lasting 10 years or more. All of the patients were considered to be currently in excellent glycemic control and treated using modern therapies. METHODS: Study included 384 (80.7% women) T1DM patients participating in the Program of Comprehensive Outpatient Specialist Care at the University Hospital in Krakow between the years 2014 and 2020. A retrospective analysis of medical records was conducted. RESULTS: The patients were on average 34 ± 9.2 years old, had a BMI 25.0 ± 3.9 and a T1DM duration of 20.5 ± 7.9 years. The mean level of HbA1c throughout the follow-up (mean duration 4.9 ± 1.4 years) was 6.9 ± 1%. The group included 238 (62.0%) patients treated with insulin pumps and 99 (25.8%) on multiple daily injections, 47 (12.2%) used both methods; almost all patients were on insulin analogues. DR was confirmed in 150 (39.1%) patients, from which 109 (28.4%) were diagnosed de novo. Severe DR was occurred in just 31 cases (8.1%). In the multivariate logistic regression, independent risk factors for the presence of DR were T1DM duration (OR 1.13; 95% CI, 1.09-1.19), HbA1c level (OR 1.41; 95% CI, 1.08-1.84), LDL level (OR 1.79; 95% CI, 1.16-2.87), and the combined presence of non-DR micro- and macrovascular chronic complications (OR 1.86; 95% CI, 1.16-3.03). CONCLUSIONS: In this highly-selected group of T1DM patients, mostly female, the prevalence of both DR at any stage and severe DR was lower than earlier reported results from other cohorts. Independent risk factors for the DR cohort did not differ from previously reported studies.

Diabetes Management Delivery and Pregnancy Outcomes in Women with Gestational Diabetes Mellitus during the First Wave of the 2020 COVID-19 Pandemic: A Single-Reference Center Report.

OBJECTIVES: The COVID-19 pandemic has forced a rapid adaptation of healthcare services to secure care for many patient groups. This includes women with gestational diabetes mellitus (GDM). We evaluated the impacts of the first COVID-19 wave on parameters such as the GDM treatment, glycemic control, and pregnancy outcomes. METHODS: In this retrospective study from a reference diabetes center (Krakow, Poland), we compared patient data from two different time periods: the first wave of the COVID-19 pandemic (March 2020-June 2020) and the preceding five months (October 2019-February 2020). Data was collected from the medical records and telephone surveys. RESULTS: We included 155 consecutive women (group N1 = 73 and group N2 = 82 from the COVID-19 pandemic period and non-COVID-19 period, respectively). During the COVID-19 pandemic, almost half of all GDM women (N1 = 36, 49.3%) used telemedicine as a method of contacting their diabetic specialists while this tool was not utilized in the earlier period. Moreover, these patients reported difficulties in performing blood glucose self-control more often (N1 = 20, 27.4%, vs N2 = 7, 8.5%; p ≤ 0.01) and spent less time on diabetes education than the control group on average (N1 = 39, 53.4%, vs N2 = 9, 9.8% below 2 hours of training; p ≤ 0.01). Most analyzed glycemic parameters and pregnancy outcomes were similar. Differences were found with respect to the incidence of prolonged labor (N1 = 12, 16.4%, vs N2 = 3, 3.7%; p ≤ 0.01) and preeclampsia (N1 = 0 vs N2 = 7, 8.5%; p = 0.01). CONCLUSION: In this single-center observational study, the first wave of the COVID-19 pandemic did not seem to have a negative impact on pregnancy outcomes in GDM women, despite the difficulties in diabetes management delivery.

Neurological symptoms in hospitalised patients with COVID-19 and their association with in-hospital mortality.

OBJECTIVES: To evaluate the spectrum of neurological symptoms in patients with COVID-19 during the first 14 days of hospitalisation and its association with in-hospital mortality. MATERIAL AND METHODS: We included 200 patients with RT-PCR-confirmed COVID-19 admitted to University Hospital in Krakow, Poland. In 164 patients, a detailed questionnaire concerning neurological symptoms and signs was performed prospectively within 14 days of hospitalisation. In the remaining 36 patients, such questionnaires were completed retrospectively based on daily observations in the Department of Neurology. RESULTS: During hospitalisation, 169 patients (84.5%) experienced neurological symptoms; the most common were: fatigue (62.5%), decreased mood (45.5%), myalgia (43.5%), and muscle weakness (42.5%). Patients who died during hospitalisation compared to the remainder were older (79 [70.5-88.5] vs. 63.5 [51-77] years, p = 0.001), and more often had decreased level of consciousness (50.0% vs. 9.3%, p < 0.001), delirium (33.3% vs. 4.4%, p < 0.001), arterial hypotension (50.0% vs. 19.6%, p = 0.005) or stroke during (18.8% vs. 3.3%, p = 0.026) or before hospitalisation (50.0% vs. 7.1, p < 0.001), whereas those who survived more often suffered from headache (42.1% vs. 0%, p = 0.012) or decreased mood (51.7% vs. 0%, p = 0.003). CONCLUSIONS: Most hospitalised patients with COVID-19 experience neurological symptoms. Decreased level of consciousness, delirium, arterial hypotension, and stroke during or before hospitalisation increase the risk of in-hospital mortality.

Second stage of Universal Neonatal Hearing Screening - a way for diagnosis and beginning of proper treatment for infants with hearing loss.

PURPOSE: To analyze retrospectively the results of hearing testing in infants at the second stage of the Polish Universal Neonatal Hearing Screening Program carried out in the Department of Otolaryngology at the Medical University of Warsaw. MATERIAL/METHODS: A total of 351 infants referred to our Department for the second stage of UNHS were included in the study. There were 39.60% infants referred due to positive result of hearing screening at the first stage of the Program performed in neonatal units, 55.27% with negative screening but risk factors present, and 5.13% without any tests due to equipment failure in the maternity unit. RESULTS: Risk factors were identified in 86.61% of the infants. The most frequent ones were hyperbilirubinemia (71.51%), premature birth (63.25%), and ototoxic medication (62.11%). Otoacoustic emission test showed fail results in 17.66% of the infants, and auditory brainstem responses confirmed hearing loss in 16.81%. Correlation between risk factors and confirmed hearing loss was found for hyperbilirubinemia, low birth weight, intensive therapy for at least 7 days, low Apgar scores, and craniofacial abnormalities. CONCLUSIONS: The early identification of infants with hearing loss is essential for early intervention. Not only infants who fail the initial screening but also the ones with risk factors of hearing impairment should be referred to the centers that are capable of providing the necessary diagnostic services required for the second stage of the UNHSP. Those two steps are needed to both minimize the risk of overlooking a child with hearing loss and properly diagnose hearing impairment.