Celem ogólnym artykułu jest opisanie sposobu na kształtowanie kompetencji tekstotwórczej u cudzoziemców uczących się języka polskiego, szczegółowym zaś przedstawienie strategii tworzenia jednej z ...form wypowiedzi pisemnej jaką jest opis (moją szczególną uwagę skupi przedmiot), na przykładzie tekstu literackiego Paryż XX wieku autorstwa Juliusza Verne’a. Studium zbudowano z trzech części: pierwsza zajmuje się teorią struktury opisu, druga umieszcza formę tę w przestrzeni glottodydaktyki polonistycznej, trecia zaś, w postaci aneksu z propozycją ćwiczeń, przestawia konkretne sposoby na kształtowanie umiejętności opisywania rzeczywistości u słuchaczy kursu języka polskiego jako obcego (poziom B2).
Monogenic obesity can be caused by a mutation in one of the single genes involved in hunger and satiety. The most common mutations affect melanocortin 4 (MC4) followed by the leptin gene and its ...receptor. Leptin receptor (LEPR) gene mutation is an extremely rare endocrine disease characterized by early-onset obesity, hyperphagia in addition to pituitary hormone deficiency, and metabolic abnormalities. We report the case of a 12-month-old male infant born of a non-consanguineous marriage. He presented to us with rapid weight gain from 2 months of age along with hyperphagia. Biochemistry revealed a deranged lipid profile, elevated transaminases, and markedly raised serum leptin levels. On genetic analysis, a novel mutation was detected, which was a homozygous variation In exon 12 of the LEPR gene (chr1:g.65608901G>A) that resulted in the synonymous amino acid change of lysine at codon 584 proximal to donor splice site (p.Lys584). The
in silico
prediction of the variant was ‘damaging’ by MutationTaster2. The mutation was classified as a ‘variant of uncertain significance’ due to a lack of published literature and had to be correlated carefully with the clinical symptoms. It was recommended to do Sanger sequencing of the parents and other family members. However, due to financial constraints, the family could not afford the same. At the time of writing, funds were being arranged for procuring setmelanotide, which is a novel and effective therapy for monogenic obesity due to LepR mutation.
Invasive Listeriosis in Europe – A Case Review Żurawik, Anna; Szczesiul-Paszkiewicz, Paulina; Chmielarczyk, Agnieszka
Postępy mikrobiologii,
03/2024, Letnik:
63, Številka:
1
Journal Article
Recenzirano
Odprti dostop
bacilli are a known cause of non-invasive gastrointestinal listeriosis with diarrhea, less frequently they cause invasive infections: meningitis and encephalitis, bacteremia and its complications: ...endocarditis, intraocular inflammation of the eye and others. The risk of human infection is mainly associated with consuming food contaminated with these bacteria. According to the European Food Safety Authority (EFSA), infections with
etiology caused the highest hospitalizations and deaths among zoonotic diseases reported in 2022. A report by the European Center for Disease Prevention and Control (ECDC) reported 0.44 cases of listeriosis per 100,000 population in 2021, with the highest incidence rate for people over 64 years old at 1.7.
The study aimed to review and describe cases of invasive listeriosis diagnosed in adult patients in Europe between 2010 and 2023. Fifty-two cases of the disease were included, of which 19 were meningitis, 13 showed bacteremia, nine were associated with endocarditis and 10 with intraocular inflammation. One case had a clinical form of hepatitis. Only seven cases of
infection were related to consuming contaminated food. Eleven cases ended in the death of patients.
Invasive listeriosis is a difficult-to-treat infection with a significant mortality rate. It requires decisive action by monitoring the prevalence and extent of food contamination with these microorganisms and preventing epidemic outbreaks. Research on listeriosis should focus on improving the clinical treatment of severe cases of infection and studying the complex mechanisms of their pathogenesis.
Turner syndrome (TS) is a genetic defect accompanied by gonadal dysgenesis, short stature, characteristic dysmorphic features, congenital heart and kidneys defects, and other diseases. One of the ...less common are vascular malformations in the gastrointestinal (GI) tract. They are asymptomatic in some patients, but can also cause GI bleeding. We present a description of a 12-year-old patient with TS and vascular malformations in the GI tract who was admitted to the hospital because of recurrent microcytic anemia. At the age of 15, she started estrogen therapy due to hypogonadism. Since then, the bleeding has stopped and the number of malformations on follow-up colonoscopy has been significantly decreased. In TS patients with iron deficiency anemia, the differential diagnostics should include vascular defects in the GI. There are evidences, that estrogen therapy may limit the number of lesions and reduce the risk of bleeding.
Newborn screening for congenital hypothyroidism (CH) has been highly effective in preventing devastating neurodevelopmental and physical sequelae in affected infants. We report a case of an ectopic ...thyroid gland located in the submandibular area detected at the age of 3 months, which was missed by congenital hypothyroidism screening test based on twice-repeated TSH measurement in dried blood spots. The diagnosis of subclinical hypothyroidism was confirmed on the basis of blood test performed in the endocrine clinic: TSH 26.3 µIU/ml (N: < 10 µIU/ml), with FT4 14.7 pmol/l (N: 10-25 pmol/l) and fT3 6.9 pmol/l (N: 3-8 pmol/l). Ultrasonography and scintigraphy revealed ectopically located thyroid tissue in the sublingual area. In the case of doubtful results of a neonatal screening test or in any case of suspected congenital hypothyroidism, the diagnosis should be supplemented with ultrasound examination of the neonate's neck and followed by scintigraphy if necessary.
Glycogen storage diseases (GSDs) are disorders of carbohydrate metabolism and hypoglycemia is their hallmark. Secondary diabetes with glycogen storage disease, which seems rather paradoxical, has ...been rarely reported. A 13-year-old girl previously diagnosed to have GSD 1a presented to the emergency with multiple episodes of vomiting and loss of consciousness. She had hyperglycemia, ketonuria, hyperlactatemia and metabolic acidosis, suggestive of diabetic ketosis with acidosis possibly contributed by both high serum lactate and serum ketones. Her glycated hemoglobin was high, with detectable serum insulin levels, which suggested secondary diabetes in the background of GSD Ia. Her management posed a therapeutic challenge. She was managed with insulin and achieved good glycemic control. We wish to conclude that GSD may rarely lead to secondary diabetes as a complication and the management is complex owing to the nature of the disease. Insulin remains the mainstay of the treatment.
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