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BackgroundExplanation of the ultimate causes of acute and chronic pancreatitis is challenging. Hence, it is necessary to seek various etiological factors, including genetic mutations that may be of importance in triggering recurrence and progression of acute to chronic pancreatitis. The aim of this study was to determine the frequency of genetic mutations in patients with acute pancreatitis and to investigate their relationship with the etiology and clinical course.MethodsThe study included 221 patients treated for acute pancreatitis and 345 healthy subjects as a control group. Peripheral blood samples were collected from each study participant and genomic DNA was isolated. Genotyping of common mutations in the SPINK1 (p.N34S and p.P55S) and CTRC (p.I259V, p.V235I, p.K247_R254del, p.E225A) genes was performed using the high-resolution melting method. Mutations in the CFTR p.F508del (delF508_CTT) were genotyped using allele-specific amplification polymerase chain reaction. All detected mutations were confirmed with direct capillary DNA sequencing.ResultsMutations in SPINK 1, CFTR and CTRC were detected in 6.3 %, 2.3 % and 1.8 % of patients with acute pancreatitis versus 3.2 %, 3.8 % and 1.2 % of volunteers in the control group. No relationship was found between the detected mutations and severity of acute pancreatitis: mild acute pancreatitis, mutation of CFTR in 4 (2.8 %) and CTRC in 2 (1.4 %) patients; severe acute pancreatitis, mutation of CFTR and CTRC in 1 (2.6 %) case each. The SPINK1 mutation was significantly more frequent in 8 (10.4 %) severe cases than in 6 (4.2 %) mild cases (P < 0.05), and was observed in 5/70 (7.1 %) patients with alcohol-related AP, 5/81 (6.2 %) with biliary AP, and 4/63 (6.3 %) in those without any established cause of the disease.ConclusionsMutation p.N34S in SPINK1 may predispose patients to acute pancreatitis, especially in those abusing alcohol, and may promote a more severe course of the disease.

Our study provides evidence that CTRC variants, including c.180TT (p.Gly60Gly) are strong CP risk factors. The c.493+51C>A variant may play a protective role against CP development.

Cerebral palsy is a disease that puts a great mental burden on caregivers and generates very high social costs. Children with CP require many years of rehabilitation and medical care. The etiology of the disease is undoubtedly multifactorial, and the pathogenesis is associated with focal damage to the central nervous system. One can find descriptions of well-documented interventions in the literature that reduce the risk of CP in certain groups of pregnant and neonatal patients, and interventions that have a potentially protective effect. In this review, we have analyzed the available literature in terms of prenatal and postnatal interventions that may have an impact on reducing the incidence of this condition in children.

The purpose of this study was to evaluate retinal and choroidal microvascular alterations with optical coherence tomography angiography (OCTA) in COVID-19 patients hospitalized because of bilateral pneumonia caused by SARS-CoV-2. The vessel density (VD) and foveal avascular zone (FAZ) of 63 patients with SARS-CoV-2 pneumonia who had positive polymerase chain reaction (PCR) tests and who recovered after receiving treatment and 45 healthy age- and gender-matched controls were evaluated and compared using OCTA in the superficial capillary plexus (SCP) and deep capillary plexus (DCP). The VD was also estimated in both groups in the choriocapillaris (CC). In COVID-19 patients, there was a statistically significant difference between the patients and a control group in both superficial (FAZs) and deep (FAZd) avascular zone (p = 0.000). The VD was significantly lower in the foveal area in choriocapillaris (p = 0.046). There were no statistically significant changes in the VD in the superior, inferior, nasal, and temporal quadrants in superficial and deep plexus, or in the choriocapillaris. The VD was not significantly lower in the foveal area in superficial or deep plexus. COVID-19 may affect the retinal vasculature, causing ischemia, enlargement of the FAZ, and lowering of the VD in the choriocapillaris area. Routine ophthalmic examination after SARS-CoV-2 infection should be considered in the course of post-infectious rehabilitation.