Background 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aetiologies of obesity and autism spectrum disorder. Case presentation This study presents three cases of deletions within the 16p11.2 region. Every child had mild variable craniofacial abnormalities, hand or foot anomalies and developmental and language delays. The first proband had obesity, epilepsy, moderate intellectual disability, aphasia, motor delay, hyperinsulinism, and café au lait spots. The second proband suffered from cardiac, pulmonary, and haematological problems. The third proband had motor and language delays, bronchial asthma, and umbilical hernia. Although each patient presented some features of the syndrome, the children differed in terms of their clinical pictures. Genetic diagnosis of 16p11.2 microdeletion syndrome was made in children at different ages based on multiplex ligation probe-dependent amplification analysis and/or microarray methods. Conclusions Our reports allow us to analyse and better understand the biology of 16p11.2 microdeletion throughout development. However, the variability of presented cases supports the alternate conclusion to this presented in available literature regarding 16p11.2 deletion, as we observed no direct cause-and-effect genotype/phenotype relationships. The reported cases indicate the key role of the interdisciplinary approach in 16p11.2 deletion diagnostics. The care of patients with this anomaly is based on regular health assessment and adjustment of nervous system development therapy.
Age-related macular degeneration (AMD) is an eye disease causing damage to the macular region of the retina where most of the photoreceptors responsible for central visual acuity are located. MicroRNAs (miRNAs) are small single-stranded non-coding RNA molecules that negatively regulate genes by silent post-transcriptional gene expressions. Previous studies have shown that changes in specific miRNAs are involved in the pathogenesis of eye diseases, including AMD. Altered expressions of miRNAs are related to disturbances of regulating oxidative stress, inflammation, angiogenesis, apoptosis and phagocytosis, which are known factors in the pathogenesis of AMD. Moreover, dysregulation of miRNA is involved in drusen formation. Thus, miRNAs may be used as potential molecular biomarkers for the disease and, furthermore, tailoring therapeutics to particular disturbances in miRNAs may, in the future, offer hope to prevent irreversible vision loss. In this review, we clarify the current state of knowledge about the influence of miRNA on the pathogenesis, diagnosis and treatment of AMD. Our study material consisted of publications, which were found in PubMed, Google Scholar and Embase databases using “Age-related macular degeneration”, “miRNA”, “AMD biomarkers”, “miRNA therapeutics” and “AMD pathogenesis” as keywords. Paper search was limited to articles published from 2011 to date. In the section “Retinal, circulating and vitreous body miRNAs found in human studies”, we limited the search to studies with patients published in 2016–2021.
Background: The aim of the current study is to analyze and summarize the latest research on improving therapy in ovarian cancer. Materials & methods: Data analysis was based on a review of publications from 2011 to 2021 in the PubMed database with use of the search terms including ‘EGFR ovarian cancer’, ‘folate receptor inhibitors ovarian cancer’, ‘VEGF ovarian cancer’, ‘PDGF ovarian cancer’ and ‘CTLA-4 ovarian cancer’. Results: 6643 articles were found; 238 clinical trials and randomized control trials were analyzed; 122 studies were rejected due to inconsistency with the topic of the work. Conclusion: Extensive research on the treatment of ovarian cancer increases the chance of developing the most effective therapy suited to the individual needs of the patient.
Background T-cell acute lymphoblastic leukemia is a subtype of acute lymphoblastic leukemia, one of the most common childhood neoplasms. Hypodiploidy is a chromosome abnormality with fewer than 45 chromosomes and is associated with unsatisfactory clinical outcomes in acute lymphoblastic leukemia. Case presentation We report clinical and genetic findings of a 14-year-old male with T-cell acute lymphoblastic leukemia with low-hypodiploidy. The medical history included neck pain for a month, facial nerve palsy on the right side for 6 days, fever, drowsiness, and weakness for 3 days, vomiting, diarrhea for 1 day. The physical examination presented features of hypovolemia, palsy of the facial nerve on the right side, enlarged lymph nodes, hepatosplenomegaly, sore throat, and petechiae of the skin. Radiological images indicated lesions of different organs. Bone marrow biopsy confirmed precursor T-ALL. In the FISH tests, KMT2A and BCR/ABL1 rearrangements were not observed. GTG banding revealed 3 cell clones, which confirmed the hypodiploidy. Multiplex RT-qPCR was performed. STIL/TAL1 (del1p32) gene rearrangement was found in the blast cells. Additional tests were performed using the CytoScan HD microarray technique. Molecular karyotype did not reveal hypodiploidy, but identified other abnormalities such as duplication of chromosomal regions: 4q25q35.2, 6p23.3p11.1 and 8p23.3q24.21, and the loss of heterozygosity of short arm chromosome 9. In two regions of the chromosome biallelic deletions were found at 9p21.3, including the CDKN2A, CDKN2B, IFNA1, MTAP genes and at 10q23.31, containing PTEN. The child died 9 days after diagnosis. Conclusions Bone marrow biopsy, GTG banding, FISH techniques, and molecular karyotyping were used to make an accurate diagnosis. This case documents a rapid progression of the disease and unfavorable results of T-cell acute lymphoblastic leukemia with hypodiploidy.
Eslicarbazepine acetate (Zebinix®, ESL), a voltage-gated sodium channel blocker, is a once-daily, orally administered anti-seizure medication available in the EU for use as monotherapy in adults with newly diagnosed partial-onset seizures and as adjunctive therapy in adults, adolescents, and children aged > 6 years with partial-onset seizures. It was approved by the European Medicines Agency and launched onto the European market in 2009. This study aimed to assess the efficacy and safety of ESL in the treatment of focal-onset seizures. Our study material consisted of publications, which were found in PubMed, Google Scholar, and Embase databases. In order to find the proper publications, the search has been conducted with the use of a combination of keywords like: “eslicarbazepine acetate", "focal-onset seizures treatment", "epilepsy treatment", "eslicarbazepine acetate pharmacokinetics”. The first step was to find proper publications from the last 10 years. The second step was to carry out an overview of the found publications. Results of mentioned studies proved that for adults with medically uncontrolled partial-onset seizures, ESL monotherapy is well tolerated and effective over the long term, including the patients who transitioned from CBZ-CR monotherapy. Adjunctive ESL demonstrated a sustained therapeutic effect and was well-tolerated, safe, and efficacious during the treatment of adults with partial-onset seizures. Both 800 mg and 1200 mg once-daily doses were well tolerated. Moreover, significant improvements in depressive symptoms and quality of life domains were observed under long-term treatment with ESL.
Introduction: Acromegaly is a chronic, rare disorder resulting from growth hormone (GH) hypersecretion, usually caused by a pituitary adenoma. GH stimulates synthesis of insulin-like growth factor 1 (IGF-1), whom assay should be used as a screening test whenever acromegaly is suspected. Patients with acromegaly normally take from 5 to 10 years to receive a correct diagnosis, leading to complications such as cardiovascuar, respiratory, and endocrine problems that are responsible for an increase mortality. Late diagnosis of the disease also impact the effectiveness of surgical, pharmacological and radiotherapy treatment. Case report: A 33-year-old acromegalic man with pituitary macroadenoma resistant to therapy of somastatin analogue (octreotide, lanreotide) and dopamine agonist (cabergoline). The patient underwent transsphenoidal adenomectomy, after wich high level of GH and IGF-1 were still measured. Due to the lack of the effect of the current treatment, the patient was qualified for pegvisomant therapy, as a result of which biochemical control was achieved without adverse events and with a good compliance of treatment. Conclusions: Treatment with pegvisomant is now an important therapeutic strategy to achieve full disease control in acromegalic patients resistant or poorly responders to first generation somatostatin receptor ligands and in patients who do not respond adequately to selective excision of pituitary adenoma and /or for whom surgery is not possible.
Introduction: Cushing's disease is a hypercortisolemic state caused by the excess secretion of corticotropin by the pituitary adenoma. Cushing's disease is diagnosed on the basis of clinical and laboratory signs of hypercortisolemia and the presence of an MRI pituitary adenoma. Pituitary surgery represents the first-line therapy, but it is non-curative in one third of patients, requiring additional treatments. Second-line treatments include pharmacotherapy, pituitary radiotherapy and bilateral adrenalectomy. Case report: A 57-year-old patient with clinical symptoms of hypercortisolemia was admitted to the Endocrinology Clinic due to dizziness and headache. Laboratory tests and MRI confirmed Cushing's disease caused by invasive pituitary macroadenoma. The tumor was not completely resected through the sphenoid sinus. Disease symptoms were remitted and hormone levels were stabilized. After 2 years, the underlying disease was relapsed. A second tumor removal operation was performed. The tumor was incompletely removed. The disease has progressed.. The patient was referred for stereotaxic CyberKnife radiotherapy. Conclusion: Cushing's disease should be diagnosed and treated in a specialized endocrinology center, and the success of treatment depends on a multidisciplinary team of physicians consisting of an endocrinologist, neurosurgeon and neuroradiologist.About 50% of untreated patients die within 5 years of the disease due to complications of hypercortisolemia. Surgical treatment is effective in the case of microadenomas, while in the case of macroadenomas, it may turn out to be ineffective when the tumor is highly invasive. If subsequent surgeries are unsuccessful, treatment with radiotherapy or pharmacotherapy should be given.
Rare diseases affect less than 1 in 2000 people and are characterized by a serious, chronic, and progressive course. Among the described diseases, a mutation in a single gene caused mastocytosis, thrombotic thrombocytopenic purpura, Gaucher disease, and paroxysmal nocturnal hemoglobinuria (KIT, ADAMTS13, GBA1, and PIG-A genes, respectively). In Castleman disease, improper ETS1, PTPN6, TGFBR2, DNMT3A, and PDGFRB genes cause the appearance of symptoms. In histiocytosis, several mutation variants are described: BRAF, MAP2K1, MAP3K1, ARAF, ERBB3, NRAS, KRAS, PICK1, PIK3R2, and PIK3CA. Genes like HPLH1, PRF1, UNC13D, STX11, STXBP2, SH2D1A, BIRC4, ITK, CD27, MAGT1, LYST, AP3B1, and RAB27A are possible reasons for hemophagocytic lymphohistiocytosis. Among novel molecular medicines, tyrosine kinase inhibitors, mTOR inhibitors, BRAF inhibitors, interleukin 1 or 6 receptor antagonists, monoclonal antibodies, and JAK inhibitors are examples of drugs expanding therapeutic possibilities. An explanation of the molecular basis of rare diseases might lead to a better understanding of the pathogenesis and prognosis of the disease and may allow for the development of new molecularly targeted therapies.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.