Clinical Features
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2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Nasser A. N. Alzerwi ◽  
Bandar Idrees ◽  
Saeed Alsareii ◽  
Yaser Aldebasi ◽  
Afnan Alsultan

Objective. Due to the rarity of recurrent gallstone ileus (RGSI), its epidemiological and clinical features are elusive. With a focus on mortality and the site of impaction, this study consolidates the key clinical characteristics of index GSI (IGSI) and RGSI. Methods. A meta-analysis of cases reported on RGSI was performed. Risk factors for mortality and site of impaction were examined, and a subgroup analysis was performed for age, sex, and site of impaction (jejunum, ileum, or others). Results. In the final analysis, 50 (56 individual cases) studies were included. The paired data for the site of impaction was available for 45 patients. Women accounted for 87.3% of all RGSI cases included in the pooled analysis. The median age (interquartile range, IQR) of the patients was 70 (63–76) years, and the median time of recurrence (IQR) was 20.5 (8.5–95.5) days. The overall mortality rate was 11.8%, without correlation between the mortality rate and age, the time of recurrence, or the site of impaction. The region in which the stone was found in RGSI and IGSI was similar in most cases p = 0.002 . Logistic regression also revealed a higher probability of stone impaction in the ileum in RGSI if it was the site of impaction in IGSI. In most cases, enterolithotomy was the preferred method. Conclusions. A high index of suspicion for RGSI should be maintained for older women with a history of GSI. The region where the stone was impacted during IGSI should be investigated first in such patients.


2021 ◽  
Author(s):  
Hyung Jun Park ◽  
Ye-Jee Kim ◽  
Min-Ju Kim ◽  
Hocheol Kim

Abstract Background Birt–Hogg–Dubé (BHD) syndrome is an ultrarare lung disease with unclear prevalence and incidence. Our study aimed to identify the epidemiological and clinical features of BHD syndrome by using nationwide claims data from the Korean Health Insurance Review and Assessment service. Results We found 26 patients with BHD syndrome from 2017 to 2019. The prevalence of BHD syndrome was 5.67 per 107 population, with no peak age. Among incidence cases, the median age of diagnosis was 51 years, with slightly more females than males (n = 15, 57.7%). Over half of the patients (n = 14, 53.8%) experienced pneumothorax, and 10 (38.5%) developed malignant neoplasm within the clinical course. Conclusions The prevalence of BHD syndrome in Korea is extremely low. However, affected patients manifest several comorbidities, including malignant neoplasm and repetitive pneumothorax.


2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Noor A. Megdadi ◽  
Ahmad K. Almigdad ◽  
Mo’men O. Alakil ◽  
Shahrazad M. Alqiam ◽  
Sumaia G. Rababah ◽  
...  

Background. Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. The accumulation of tyrosine toxic metabolites leads to progressive hepatic, renal, and neurological manifestations. Treatment of HT1 consists of tyrosine-restricted diets and nitisinone. The untreated disease progresses into life-threatening liver failure with an increased risk of hepatocellular carcinoma. Methods. From April 2010 to March 2021, eighteen patients were diagnosed with HT1 in the metabolic department at Queen Rania Al Abdullah Hospital for Children in Jordan. Patients were reviewed retrospectively regarding their clinical features, laboratory data, and sociodemographic history. Results. The mean age of nine boys and nine girls was 6.03 years ( SD ± 3.85 ). The mean age for symptom onset was 5.61 months ( SD ± 6.02 ). However, the diagnosis was belated from the onset by 10.50 months (±10.42). Nitisinone treatment was delayed from diagnosis around 12.28 months ( SD ± 25.36 ). Most of the patients (66.7%) had acute onset of the disease. Two children (11.1%) died due to hepatic complications. Positive family history was identified in 61.1% of patients, and a similar percentage were born to parents with consanguineous marriage. The most common presentation was abdominal pain, vomiting, and fever. Hepatomegaly and abdominal distention were the most common findings. Six patients’ (42.9%) first presentation was rickets. Conclusion. HT1 diagnosis is usually delayed because it is not part of newborn screening and nonfamiliarity with the clinical features of the disease. Therefore, nationwide newborn screening should be expanded to include HT1.


2021 ◽  
Author(s):  
Ofra Novoplansky ◽  
Sankar Jagadeeshan ◽  
Ohad Regev ◽  
Idan Menashe ◽  
Moshe Elkabets

Importance: There is considerable variation among different studies for the prevalence of RAS mutations in head and neck cancer (HNC) patients. In light of the development of RAS inhibitors, a reliable assessment of the prevalence of RAS mutations and their correlation with the clinical features of patients with HNC is crucially needed. Objective: To assess the worldwide prevalence of HRAS, KRAS, and NRAS mutations in HNC in the relation to geographical region, anatomical site(s) of the tumor(s) and clinical features. Data Sources: A systematic search of the PubMed, Embase, Web of Science, and Cochrane Central Register of Controlled Trials databases was performed to identify studies published since January 2000. Data were analyzed between June and September 2021. Study Selection: Studies that included mutational analyses of at least one of the target genes and reported the prevalence and frequency of mutations as an outcome measure were included. Studies including less than ten patients or were conducted before year 2000 were excluded. Data Extraction and Synthesis: Two researchers independently reviewed the literature according to Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) reporting guidelines. Random-effects models were applied to results with high heterogeneity. Otherwise, fixed-effects models were used for the analyses. Dichotomous variables were pooled as odds ratios (OR). Main Outcome(s) and Measure(s): The primary outcome was mutation prevalence. Secondary outcomes included the location of the mutated codon and amino acid substitution. Results: The estimated mutation rate is highest for HRAS (7%), followed by KRAS (2.89%) and NRAS (2.20%). HRAS prevalence in South Asia (15.28%) is twice as high as the global estimate. HRAS mutations are more prevalent in oral cavity and salivary gland tumors. In contrast, KRAS mutations are found more frequently in sinonasal tumors, and NRAS mutations are found chiefly in tumors of the nasopharynx. OR analyses show a significant association between HRAS mutations and a high tumor stage (OR=3.63). In addition, there is a significant association between HPV-positive status and KRAS mutations (OR=2.09). Conclusions and Relevance: RAS mutations occur in a subset of HNC patients and their prevalence varies according to geography, tumors anatomical site, stage, and HPV status. This meta-analysis provides support for their potential as viable therapeutic targets in HNC patients.


2021 ◽  
Author(s):  
Ramona Cordani ◽  
Livia Pisciotta ◽  
Maria Margherita Mancardi ◽  
Michela Stagnaro ◽  
Giulia Prato ◽  
...  

AbstractAlternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.


PEDIATRICS ◽  
2021 ◽  
Vol 148 (Supplement 3) ◽  
pp. S37-S37
Author(s):  
Price Edwards ◽  
Anthony Olive ◽  
Carla M. Davis

2021 ◽  
Vol 33 (3) ◽  
pp. 217
Author(s):  
Maria Efrinta Ginting ◽  
Rosiliwati Wihardja ◽  
Dyah Nindita Carolina

Introduction: Bronchial asthma patients use inhalation drugs as therapy to achieve a controlled asthma state. Inhaled corticosteroids and β2 agonists are the medication that is being used in this case. Prolonged use of inhalation drugs will affect the health of periodontal tissue. The effect of these drugs can reduce the periodontal defense mechanism and increase the risk of periodontal disease. This study aims to determine the periodontal clinical features of bronchial asthma patients using inhalation drugs. Method: This research was a descriptive study. The sample of the study were 22 females and 8 males bronchial asthma patients at the Community Lung Health Center of Bandung (Balai Besar Kesehatan Paru Masyarakat Bandung/BBKPM Bandung) who had been using inhalation drugs for at least one year. The periodontal clinical feature was assessed by employing a Community Periodontal Index (CPI) modified with probing the gingival sulcus to assess the presence of gingival bleeding, periodontal pocket, and loss of clinical attachment where then a periodontal status was obtained. The periodontal status data were then processed using the periodontitis case definitions from the Centers for Disease Control and Prevention/American Academy of Periodontology (CDC/AAP) to determine periodontal disease in asthmatics patients. Results: Clinical features of gingival bleeding were found in 26 asthmatic patients (86.7%), periodontal pockets in 18 asthmatic patients (60%), and loss of clinical attachment in 27 asthmatic patients (90%). Based on the CDC/AAP case definition, 23 asthmatic patients (76.7%) had periodontitis. Bronchial asthma patients who used inhalation drugs had a risk of periodontitis.Conclusion: Bronchial asthma patients who used inhalation drugs for at least one year had gingival bleeding and loss of clinical attachment and periodontal pocket.


PEDIATRICS ◽  
2021 ◽  
Vol 148 (Supplement 3) ◽  
pp. S7-S8
Author(s):  
Dylan T. Timberlake ◽  
David Stukus

Bacteria ◽  
2021 ◽  
Vol 1 (1) ◽  
pp. 3-11
Author(s):  
Rafael Garcia-Carretero

Listeriosis is an uncommon and potentially severe zoonotic bacterial infection that usually occurs in outbreaks instead of isolated cases. In recent years, there has been an increase in the incidence of this disease. One of the most severe of its complications involves the central nervous system (CNS) in a condition known as neurolisteriosis. Here, we describe the demographic and clinical features of patients presenting with neurolisteriosis between 2001 and 2015 using administrative data and attempt to identify potential predictors for mortality. We used the Spanish Minimum Basic Data Set at Hospitalization, a compulsory registry that collects data from clinical discharge reports. Up to 2015, data were coded based on the International Classification of Diseases, 9th Revision, so we used diagnoses and clinical conditions based on these codes. Age, sex, clinical presentation, mortality, and involvement of the CNS were identified. Using algorithms to aggregate data, variables such as immunosuppression and malignant disease were obtained. We analyzed correlations among clinical features and identified risk factors for morbidity and mortality. Between 2001 and 2015 we identified 5180 individuals, with a hospitalization rate of 0.76 per 100,000 population. Most (94%) were adults, and only 5.4% were pregnant women. The average age was 66 years. Neurological involvement was present in 2313 patients (44.7%), mostly meningitis (90.4%). Global mortality was 17%, but mortality in CNS infections was 19.2%. Age, severe sepsis, chronic liver disease, chronic kidney disease, and malignancy were the main risk factors for mortality in patients with CNS infections by Listeria monocytogenes. Although it is uncommon, neurolisteriosis can be a severe condition, associated with a high rate of mortality. Health care providers should be aware of potential sources of infection so that appropriate measures can be taken to prevent it.


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