فهرست مطالب

Journal of Disease and Diagnosis
Volume:11 Issue: 4, Dec 2022

  • تاریخ انتشار: 1401/08/16
  • تعداد عناوین: 8
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  • Khadijeh Ahmadi, Masoumeh Mosazadeh, Ladan Mafakher, Parivash Davoodian, Ebrahim Eftekhar, Mehdi Hassaniazad*, Hamed Gouklani* Pages 131-136
    Background

    The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and influenza viruses produce a wide range of clinical disease severity, which varies from asymptomatic infection to death. The outbreak of coronavirus disease 2019 (COVID-19) in Wuhan, Hubei, China, followed a seasonal influenza pandemic. The prevalence of influenza has changed since the outbreak of COVID-19. In this study, we have compared the prevalence of influenza and COVID-19 since the onset of the pandemic. Clinical symptoms were also assessed among patients.

    Materials and Methods

    The present study was conducted in a single center on 229456 patients with the SARS in Hormozgan province, Iran, during 2019-2021 before and after the COVID-19 pandemic. Clinical features including age, sex, fever, cough, shortness of breath, nausea, dizziness, headache, body aches, and diarrhea were also analyzed.

    Results

    The results indicated that out of a total of 229456 samples of patients, 71142 (31.00%) and 527 (.22%) cases were diagnosed with positive COVID-19 and positive influenza, respectively. Influenza activity decreased in March 2020 and remained low until September 2021, but it increased to near pre-pandemic seasonal levels since October 2021. The outbreak of influenza decreased by starting the restrictions and health protocols. Furthermore, the analysis of patients’ symptoms indicated that the most prevalent symptoms in influenza patients were fever, cough, and body pain, while the symptoms in COVID-19 patients were cough and headache.

    Conclusion

    Social restrictions and adherence to health protocols could significantly reduce the incidence of seasonal influenza even after controlling the COVID-19 pandemic. Influenza and COVID-19 have similar symptoms in patients, so diagnostic tests are necessary for proper diagnosis and management

    Keywords: SARS-CoV-2, Influenza, COVID-19, Prevalence, Symptoms, Hormozgan province
  • Kobra Chenani-Rahimi, Mehdi Maleki, Abdolamir Behbahani* Pages 137-141
    Background

    The cutaneous type of leishmaniasis (CL) has widespread growth. This research was conducted to explore the epidemiological characteristics of CL in the county of Shush in the Khuzestan Province located in the southwestern region of Iran.

    Methods

    This cross-sectional study was retrospectively conducted from 2016 to 2020. Patients’ demographics and medical history were acquired to some extent. The recorded data of patients with CL referred to Shush health centers were analyzed using the SPSS software (Chicago, IL).

    Results

    Overall, 2020 patients were recorded from 2016 to 2020. Among Shush residents, the incidence of CL ranged from 126.2 to 285.8 cases per 100000 people. The results demonstrated a statistically significant difference in the number of people who got CL in Shush county (P<0.05). Based on the results, a statistically significant correlation was found between CL and gender (including 54.7% males against 45.3% females, P<0.05). CL was found in more significant numbers in the age groups under ten years old (42.6%) compared to the other age groups (P<0.05).

    Conclusion

    Shush seems to be a CL endemic hotspot based on the results of this research and other epidemiological parameters. The intensity of CL reports from this study and other epidemiological studies suggests that CL is more prevalent in Shush than in previous. The situation is extremely alarming; thus, it is highly recommended that adequate measures be taken to control and prevent the spread of illness.

    Keywords: Incidence, CL, Leishmaniasis, Shush, Southwest, Endemic focus
  • Tahereh Dianat, Dor Mohammad Kordi Tamandani*, Maryam Najafi, Ali Khajeh Pages 142-146
    Background

    Autosomal recessive primary microcephaly-2 (MCPH2) is a rare genetic disorder with clinical and genetic heterogeneity. This study aimed to perform high-throughput whole-exome sequencing (WES) to facilitate the diagnosis of the genetic variants responsible for MCPH2 and the comorbidities.

    Materials and Methods

    The WES was performed for a 3-year-old boy with primary microcephaly-2 and homocystinuria-megaloblastic anemia in a consanguineous family. Sequencing and variant calling was conducted by standard bioinformatics tools. Filtering was performed to prioritize novel variants. Finally, the effect of variants on the protein structure and function was assessed using web prediction tools.

    Results

    Using WES, two novel homozygous variants and three novel homozygous variants were identified in the WDR62 and MTR genes as the causes of MCPH2 and homocystinuria-megaloblastic anemia in the affected child, respectively. These frameshift insertion variants are classified as pathogenic and affect the structure and feature of the WDR62 and MTR proteins by changing amino acid sequence and causing nonsense-mediated RNA decay (NMD).

    Conclusion

    Magnetic resonance imaging (MRI) supported polymicrogyria and impaired cerebral cortical development in the affected child. WDR62 as a causative gene plays an essential role in cerebral cortical development, and its pathogenic disease-causing variants are considered as causing factors for MCPH2. Homocystinuria-megaloblastic anemia was a comorbidity associated with microcephaly in this patient, and its variants were confirmed by WES. Overall, performing WES is a necessary and accurate way to rapidly identify the exact causative genetic variants in MCPH2 and the homocystinuria-megaloblastic anemia and manage the disease.

    Keywords: MCPH2, Whole Exome Sequencing, WDR62 gene, MTR gene
  • Fatemeh Khanaki, Zhaleh Karimi Moghaddam*, Hossein Chehre, Koorosh Kamali, Faranak Saghatchi, Hamed Rezaeejam* Pages 147-151
    Background

    Esophageal cancer is a malignancy with a poor survival rate, and the optimal management of esophageal cancer patients is still controversial. This study aimed to compare the one-year survival of patients who had received definitive chemoradiotherapy (DCRT) or neoadjuvant chemoradiotherapy plus surgery (NCRT+S).

    Materials and Methods

    In this cross-sectional descriptive study, the medical records of esophageal cancer were extracted from 2018 to 2019; the last survival status of patients was obtained one year after the end of the treatment course. Data were analyzed using SPSS (version 16), and survival was estimated by the Kaplan-Meier method with the log-rank test. A P value of less than 0.05 was considered significant for all the performed tests.

    Results

    Among 43 eligible patients, 39.5% were males and 60.5% were females. The mean age of the patients was 68.16±12.03 years. In this population, 81.4% of cases had squamous cell carcinoma (SCC), and the rest had adenocarcinoma (ADC). In addition, 58.1% and 41.9% of cases were treated by DCRT and NCRT+S, respectively. The one-year survival rate was 68% and 66.67% in the DCRT and NCRT+S groups, respectively (P>0.05). The one-year survival rate did not have significant relevance to the age of patients and histologic subtype. In terms of gender, there was no significant difference between males and females regarding the one-year survival rate.

    Conclusion

    There were no statistically significant differences in the one-year survival rate of the patients in the two treatment groups; thus, further studies are recommended to confirm the results.

    Keywords: Esophageal neoplasms, Survival rate, Chemoradiotherapy, Surgery, Neoadjuvant therapy
  • Ehsan Saburi, Fatemeh Arab, Abdolah Razi* Pages 152-155
    Background

     Urinary tract stones are common urological problems with a considerable burden worldwide. Management strategies mostly rely on the stone’s characteristics and the patient’s clinical conditions. Extracorporeal shock wave lithotripsy (ESWL) is a method of choice for managing small calculus. However, the success rate of ESWL and the prognostic factor of success widely vary among different studies. The aim of the present study was to evaluate these prognostic factors in an Iranian population undergoing ESWL.

    Methods

     The present retrospective study was conducted in Imam Ali Hospital of Bojnurd, Iran. Every patient who was referred for the ESWL of distal urethral calculus (5-20 mm) and failed to respond to medical treatment enrolled in this study. The prevalence and relationship between various individual factors and ESWL outcomes were evaluated among the study patients.

    Results

     Among 49 patients (24 males and 25 females) who had urinary tract stones, the mean (±standard deviation) of age was 42.7 (14.04) years. ESWL could successfully treat urinary tract stones in 43 patients (85%). The kidney stone diameter was not related to having a successful procedure (P=0.447). Moreover, the stroke number and receiving tamsulosin were not significantly associated with favorable ESWL outcomes (P=0.909 and P=0.590, respectively). Twenty-seven patients (45.1%) received pethidine during the procedure. There was a significant relationship between receiving analgesics and favorable ESWL outcomes (P=0.033).

    Conclusion

     The results demonstrated that 85% of the distal urinary tract stones that are smaller than 20 mm can be successfully managed by ESWL, and providing analgesics was significantly related to better outcomes.

    Keywords: Extracorporeal shock wave lithotripsy, Nephrolithiasis, Analgesic
  • Fatemeh Safari, Zeinab Imani-Saber, Sima Mozafari, Saeed Lotfi, Nahid Einollahi* Pages 156-165
    Background

    The polymorphism associated with liver fat content, which is well-known as PNPLA3 rs738409 (Patatin-like phospholipase domain-containing protein 3), is one of the critical subjects widely investigated in the literature regarding the prevalence of non-alcoholic fatty liver disease (NAFLD) worldwide. The present research aimed to study the bioinformatics investigations of this polymorphism together with the in vitro analyses among patients with NAFLD.

    Materials and Methods

    In this case-control study, after performing bioinformatics analysis, the laboratory examination was performed in several steps. Genomic DNA was extracted from the blood of 53 NAFLD patients and 107 subjects with normal liver ultrasounds. PNPLA3 rs738409 was genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. The laboratory test results, including fasting blood sugar, triglyceride, cholesterol, high-density lipoprotein, low-density lipoprotein, alanine aminotransferase, and aspartate aminotransferase were collected from medical records. Finally, statistical analysis was performed using SPSS software, version 18.0.

    Results

    The frequency of the G allele was 56% and 36% among patients and in the control group, respectively. The frequency of genotypes was 35.8% and 47.7% (CC), 17% and 31.8% (CG), 47.2% and 20.6% (GG) in patients and control groups, respectively. The adjusted odds ratios for PNPLA3 rs738409 C>G were 3.0 (95% confidence interval [CI]: 1.28-6.98, P=.011) and 0.68 (95% CI: 0.25- 1.83, P = .44) for GG and CG genotypes, respectively.

    Conclusion

    The findings showed the association between the GG genotype and the presence of NAFLD. Furthermore, the bioinformatics findings suggested the probable risk of the disease incidence regarding the change of hydropathic characteristics resulting from the amino acid substitution.

    Keywords: Non-alcoholic fatty liver disease, PNPLA3, Adiponutrin, Polymorphism
  • Fariba Azarkish, Iman Halvaei, Haniyeh kazemi, Aghdas Dehghani, Masoumeh kheirandish, Shahla Sohrabipour* Pages 166-179

    The global coronavirus disease 2019 (COVID-19) pandemic is rapidly growing, and high mortality rates are reported in this regard. Coronaviruses are known to cause multi-organ system damage. Few data are available on the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on different endocrine glands. As angiotensin-converting enzyme-2 (ACE2) receptor is extensively expressed in the endocrine organs, and thus several important questions have arisen regarding whether the function of the endocrine organ changes in COVID-19 disease and patients with the SARS-CoV-2 infection develop endocrine disorders. Databases including PubMed, Web of Sciences, Scopus, and Google Scholar were searched for studies published from 1996 to February 15, 2021. New-onset diabetes mellitus has been reported by different studies at rates ranging from 5.8% to 35%. Hypercortisolism in admission time could predict disease severity. Tissues from the hypothalamus and the pituitary gland in animals are rich in ACE2, and some endocrinopathy may be secondary. Thyroiditis and thyrotoxicosis have also been recognized in the COVID-19 infection. Hypocalcemia and vitamin D deficiency may be correlated with disproportionate parathormone levels. Patients with decreased serum calcium levels had worse clinical variables and higher incidences of complications such as septic shock. Men are more susceptible to hypogonadism, and differences in the COVID-19 infection and mortality rates between males and females are due to the differential effects of estradiol and testosterone on the immune system. Considering that different glands have the ACE2 receptor, the coronavirus may be able to alter their function. Hence, this review mainly focused on COVID-19-associated endocrinopathy.

    Keywords: Coronavirus disease 2019, Pancreas, Adrenal, Thyroid, Sexual gonad
  • Majid Teremmahi Ardestani*, Marzieh Norouzian Pages 180-181