ABSTRACT
Hypertensive crisis is a sudden rise in blood pressure with accompanying clinical symptoms. The disease is extremely rare in small children and is always a complication of secondary hypertension. CASE REPORT: 3-year-old boy (spontaneous delivery, 37 week of gestation, birth weight 2170g, 10 AS, unremarkable family history) was admitted to a hospital because of weight loss (1.5 kg, i.e. approx. 15% in 6 months), anorexia, abdominal and limb pain and lethargy. On admission, very high blood pressure values (190/150 mm Hg), lean subcutaneous tissue, frequent blinking, height 88 cm (<3c), body weight 9.5 kg (<3c). In additional tests: blood morphology, parameters of renal function, ions, gasometry, catecholamine urinary excretion, steroid profile and daily cortisol profile were within normal limits. Elevated plasma renin activity was found. In imaging studies kidneys, adrenal glands and renal arteries were normal. Normotension was not obtained on two antihypertensive drugs - metoprolol and amlodipine. In angio-CT tortuous right vertebral artery, extending to the left on the anterolateral surface of the medulla oblongata - possible compression of the vessel of the left side of medulla - was found. Diagnosis of neurovascular conflict was made. The patient was consulted by neurosurgeon who declare no possibility of surgical treatment of anomalies. In the treatment, according to the literature, a drug blocking the renin-angiotensin-aldosterone-enalapril system was used, which normalized blood pressure. At the same time, intensive nutritional treatment was used. Resolution of symptoms and weight gain was observed. In further follow-up patients' parents withdrew enalapril lawlessly, which did not lead to recurrent rise in blood pressure. The latter may suggest other, transient cause of hypertensive crisis e.g. intoxication. CONCLUSIONS: Severe hypertension in pediatric patients can give symptoms as weight loss and behavioral disorders. In the diagnostic of hypertensive crisis in children, neuroimaging studies and toxicological tests should be performed.
Subject(s)
Hypertension , Antihypertensive Agents/therapeutic use , Blood Pressure , Child , Child, Preschool , Humans , Hypertension/drug therapy , Hypertension/etiology , Male , Renal ArteryABSTRACT
In 2016, 11 male patients were reported with immunodeficiency and hepatic, gastric and (in some) neurological disease due to X-linked ATP6AP1 deficiency (ATP6AP1-CDG). In 2018, three other patients were reported with additional features: connective tissue abnormalities, sensorineural hearing loss, hyperopia, glomerular and tubular dysfunction, exocrine pancreatic insufficiency and altered amino acid and lipid metabolism. We here present a follow-up of three reported siblings showing progression of deafness to total hearing loss, progressive loss of hair up to alopecia, chestnut skin and, at last follow-up, in some of them proteinuria. Three female carriers showed a normal serum transferrin isoelectrofocusing but in two of them there was a persistent proteinuria.
ABSTRACT
The genome of the biotechnologically important solventogenic Clostridium saccharobutylicum NCP 262 contains two operons coding for genes of presumed type I RM systems belonging to the families A and C. They represent a limiting factor for the development of transformation and conjugation protocols. We established an efficient triparental mating system to transfer DNA to C. saccharobutylicum by conjugation, which includes an in vivo methylation of the donor DNA. Furthermore we describe increased rates of conjugation in knock-out mutants of the restrictase subunits of both RM systems.
Subject(s)
Clostridium/metabolism , DNA Methylation , Endonucleases/genetics , Mutation , Clostridium/genetics , DNA, Bacterial/metabolismABSTRACT
REPAIRtoire is the first comprehensive database resource for systems biology of DNA damage and repair. The database collects and organizes the following types of information: (i) DNA damage linked to environmental mutagenic and cytotoxic agents, (ii) pathways comprising individual processes and enzymatic reactions involved in the removal of damage, (iii) proteins participating in DNA repair and (iv) diseases correlated with mutations in genes encoding DNA repair proteins. REPAIRtoire provides also links to publications and external databases. REPAIRtoire contains information about eight main DNA damage checkpoint, repair and tolerance pathways: DNA damage signaling, direct reversal repair, base excision repair, nucleotide excision repair, mismatch repair, homologous recombination repair, nonhomologous end-joining and translesion synthesis. The pathway/protein dataset is currently limited to three model organisms: Escherichia coli, Saccharomyces cerevisiae and Homo sapiens. The DNA repair and tolerance pathways are represented as graphs and in tabular form with descriptions of each repair step and corresponding proteins, and individual entries are cross-referenced to supporting literature and primary databases. REPAIRtoire can be queried by the name of pathway, protein, enzymatic complex, damage and disease. In addition, a tool for drawing custom DNA-protein complexes is available online. REPAIRtoire is freely available and can be accessed at http://repairtoire.genesilico.pl/.
