ABSTRACT
BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investigate two cases of CdLS with distinct phenotypes that underwent WES to aid in their diagnosis. METHODS: We conducted a comprehensive review of the literature on CdLS along with performing whole-exome sequencing on two CdLS patients with distinct phenotypes, followed by Sanger sequencing validation and in-silico analysis. RESULTS: The first case exhibited a classic CdLS phenotype, but the initial WES analysis of blood-derived DNA failed to identify any mutations in CdLS-related genes. However, a subsequent WES analysis of skin-derived DNA revealed a novel heterozygous mutation in the NIPBL gene (NM_133433.4:c.6534_6535del, p.Met2178Ilefs*8). The second case was presented with a non-classic CdLS phenotype, and WES analysis of blood-derived DNA identified a heterozygous missense variant in the SMC1A gene (NM_006306.4:c.2320G>A, p.Asp774Asn). CONCLUSIONS: The study shows the importance of considering mosaicism in classic CdLS cases and the value of WES for identifying genetic defects. These findings contribute to our understanding of CdLS genetics and underscore the need for comprehensive genetic testing to enhance the diagnosis and management of CdLS patients.
Subject(s)
Cell Cycle Proteins , De Lange Syndrome , Humans , Cell Cycle Proteins/genetics , Exome , Mutation , Phenotype , DNA , Biopsy , De Lange Syndrome/genetics , De Lange Syndrome/diagnosisABSTRACT
Coronavirus disease 2019 (COVID-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Coronavirus disease 2019 (COVID-19) is chronic, inflammatory. Although the exact mechanisms of COVID-19 have not been yet discovered some drugs are found helpful for its treatment. These drugs which are divided into some lines therapies, have demonstrated to be helpful for COVID-19 patients based on immune basic and its antiviral properties of the disease. Previous studies have been indicated that deterioration of COVID-19 condition is associated with a weaker immune system. Most of these therapies impact on the immune system and immune cells. Beside many beneficial effects of these drugs, some adverse effects (AE) have been reported in many experiments and clinical trials among patients suffering from COVID-19. In this review, we conclude some AEs of vitamin-D, zinc, remdesivir, hydroxychloroquine or chloroquine, azithromycin, dexamethasone, amantadine, aspirin reported in different papers and we continue the rest of the drugs in second part of our review article.
ABSTRACT
BACKGROUND: Benign prostatic hyperplasia (BPH) is the most common benign mass in men, there are not standard parameter for diagnosis of BPH based on ultrasound bladder parameter, so the aim of the study was correlation between ultrasound bladder parameters with severity of symptoms and response to treatment in patients with benign prostatic hyperplasia under medical treatment. METHODS: This prospective cross-sectional study was performed on 100 men over 40 years of age with a diagnosis of BPH referred to the urology clinics of Al-Zahra and Khorshid hospitals, Isfahan, Iran in 2018-2020. The International Prostate Symptom Score (IPSS), bladder wall thickness, bladder weight, Intravesical prostatic protrusion (IPP) and response to treatment were examined before and after treatment. Patients underwent standard drug treatment with a Tamsulosin 0.4 mg daily and finasteride 5 mg daily for BPH and followed for a period of 3-6 months. RESULTS: There were significant differences between severity of symptoms before treatment with age, bladder was thickness, bladder weight and IPP (P<0.001). The symptoms of 76 patients were recovered and 24 patients not changed After treatment, so the patients were compared based on outcomes to treat, all patients with mild symptoms, 28 patients with moderate symptoms and 18 patients with severe symptoms were recovered, so the treatment outcome was significant based on symptoms (P<0.001). The means of age, bladder wall thickness and bladder weight in recovered group was significantly lower than not changed group (P<0.001). Also the frequency of IPP in the recovered group was significantly lower than not changed group (P<0.001). CONCLUSION: The use of ultrasound parameters has a high value in determining the response to treatment in BPH patients and the diagnostic value of IPSS, IPP, bladder wall thickness and bladder weight were important determined response to treatment and severity of disease. Also relation between bladder weight with response to treatment and severity of disease were evaluated for first time in the current study.
ABSTRACT
BACKGROUND: In the worldwide, there are the pandemic of the virus coronavirus disease 2019 (COVID-19) and there is no approved treatment for this disease. CASE PRESENTATION: This study reported a new case with COVID 19 with neurological symptoms such as headache and loss of consciousness without any symptoms and imaging of COVID 19 in admission but RT-PCR COVID 19 of patient was positive and during hospitalization patient had increasing cerebrospinal fluid (CSF) volume in sub-arachnoid space, micro-hemorrhaging in basal ganglia and down ward cerebellar tonsile herniation in the brain imaging, also there were rhabdomyolysis and thrombotic thrombocytopenic purpura in the lab data. Finally, based on abnormal electroencephalogram (EEG), brain death was diagnosed for patient in end of hospitalization. In the 8th of admission day, the patients died after cardiovascular arrest. CONCLUSION: The COVID 19 can be associated with different symptoms such as neurological complication and brain death was unusual complication in COVID19.
