Hajdu–Cheney Syndrome: A Systematic Review of the Literature

Hajdu–Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is NOTCH2. The described phenotype and clinical signs and symptoms are many, varied, and evolve over time. As few as 50 cases of this disease, for which there is currently no curative treatment, have been reported to date. The main objective of this systematic review was to evaluate the results obtained in research regarding Hajdu–Cheney Syndrome. The findings are reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and were registered on the web PROSPERO under the registration number CRD42020164377. A bibliographic search was carried out using the online databases Orphanet, PubMed, and Scielo; articles from other open access sources were also considered. Finally, 76 articles were included, and after their analysis, we have obtained a series of hypotheses as results that will support further studies on this matter.

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Comorbidities, clinical signs and symptoms, laboratory findings, imaging features, treatment strategies, and outcomes in adult and pediatric patients with COVID-19: A systematic review and meta-analysis

10.1101/2020.05.20.20103804 ◽

2020 ◽

Author(s):

Catherine Ruth Jutzeler ◽

Lucie Bourguignon ◽

Caroline V. Weis ◽

Bobo Tong ◽

Cyrus Wong ◽

...

Keyword(s):

Risk Factors ◽

Systematic Review ◽

Publication Bias ◽

Meta Analysis ◽

Clinical Signs ◽

Signs And Symptoms ◽

Imaging Features ◽

Laboratory Findings ◽

Clinical Signs And Symptoms ◽

Meta Analyses

Introduction Since December 2019, a novel coronavirus (SARS-CoV-2) has triggered a world-wide pandemic with an enormous medical, societal, and economic toll. Thus, our aim was to gather all available information regarding comorbidities, clinical signs and symptoms, outcomes, laboratory findings, imaging features, and treatments in patients with coronavirus disease 2019 (COVID-19). Methods EMBASE, PubMed/ Medline, Scopus, and Web of Science were searched for studies published in any language between December 1st, 2019 and March 28th. Original studies were included if the exposure of interest was an infection with SARS-CoV-2 or confirmed COVID-19. The primary outcome was the risk ratio of comorbidities, clinical signs and symptoms, imaging features, treatments, outcomes, and complications associated with COVID-19 morbidity and mortality. We performed random-effects pairwise meta-analyses for proportions and relative risks, I2, Tau2, and Cochrane Q, sensitivity analyses, and assessed publication bias. Results: 148 met the inclusion criteria for the systematic review and meta-analysis with 12149 patients (5739 female) and a median age was 47.0 [35.0-64.6]. 617 patients died from COVID-19 and its complication, while 297 patients were reported as asymptomatic. Older age (SMD: 1.25 [0.78- 1.72]; p < 0.001), being male (RR = 1.32 [1.13-1.54], p = 0.005) and pre-existing comorbidity (RR = 1.69 [1.48-1.94]; p < 0.001) were identified as risk factors of in-hospital mortality. The heterogeneity between studies varied substantially (I2; range: 1.5-98.2%). Publication bias was only found in eight studies (Eggers test: p < 0.05). Conclusions: Our meta-analyses revealed important risk factors that are associated with severity and mortality of COVID-19.

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Is Bisphosphonate-Related Osteonecrosis of the Jaw an Infection? A Histological and Microbiological Ten-Year Summary

International Journal of Dentistry ◽

10.1155/2014/452737 ◽

2014 ◽

Vol 2014 ◽

pp. 1-7 ◽

Cited By ~ 24

Author(s):

A. M. Hinson ◽

C. W. Smith ◽

E. R. Siegel ◽

B. C. Stack

Keyword(s):

Systematic Review ◽

Disease Severity ◽

Large Scale ◽

Clinical Signs ◽

Signs And Symptoms ◽

Osteonecrosis Of The Jaw ◽

Multifactorial Disease ◽

Clinical Signs And Symptoms ◽

Surgical Treatments

The role of infection in the etiology of bisphosphonate-related osteonecrosis of the jaw (BRONJ) is poorly understood. Large-scale epidemiological descriptions of the histology and microbiology of BRONJ are not found in the literature. Herein, we present a systematic review of BRONJ histology and microbiology (including demographics, immunocompromised associations, clinical signs and symptoms, disease severity, antibiotic and surgical treatments, and recovery status) validating that infection should still be considered a prime component in the multifactorial disease.

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Multiplex Polymerase Chain Reaction and Microcalorimetry in Synovial Fluid: Can Pathogen-based Detection Assays Improve the Diagnosis of Septic Arthritis?

The Journal of Rheumatology ◽

10.3899/jrheum.180311 ◽

2018 ◽

Vol 45 (11) ◽

pp. 1588-1593 ◽

Cited By ~ 6

Author(s):

Christian Morgenstern ◽

Nora Renz ◽

Sabrina Cabric ◽

Carsten Perka ◽

Andrej Trampuz

Keyword(s):

Synovial Fluid ◽

Septic Arthritis ◽

Leukocyte Count ◽

Clinical Signs ◽

Signs And Symptoms ◽

Clinical Trial Registration ◽

Link Type ◽

Inflammatory Arthropathy ◽

Registration Number ◽

Clinical Signs And Symptoms

Objective.To prospectively evaluate automated multiplex PCR and isothermal microcalorimetry tests for rapid and accurate diagnosis of septic arthritis.Methods.Patients with acute arthritis were prospectively included from October 2014 to September 2015. In synovial fluid (SF), leukocyte count and differential, culture, PCR, and microcalorimetry were determined. Septic arthritis was diagnosed by positive SF culture or (1) local clinical signs and symptoms, (2) increased SF leukocyte count, and (3) exclusion of noninfectious causes of inflammatory arthropathy. The performance of individual tests was compared with McNemar’s test.Results.Among 57 patients, 22 (39%) were diagnosed with septic arthritis. SF culture grew a pathogen in 10 patients (46%), PCR was positive in 5 (23%), and microcalorimetry in 10 (46%). Compared to SF culture, 49 concordant pairs were found for both methods (PCR and microcalorimetry; 86% agreement). In SF, PCR failed to detect Staphylococcus aureus (2 patients), Streptococcus pneumoniae (1 patient), Streptococcus dysgalactiae (1 patient), and Clostridium clostridioforme (1 patient). Microcalorimetry failed to detect S. dysgalactiae (1 patient), Streptococcus agalactiae (1 patient), and C. clostridioforme (1 patient). No statistical differences between the performance of SF culture, and PCR and microcalorimetry, respectively, were found. The processing time for PCR was 5 h and for microcalorimetry a median of 8.8 h (range, 2.3–64 h), whereas cultures required a median of 4.5 days (range, 3–14 days).Conclusion.Performance of SF PCR was inferior while microcalorimetry was similar to culture but provided results considerably faster. [Clinical trial registration number (https://www.clinicaltrials.gov): NCT02530229]

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Diagnostic accuracy of clinical signs and symptoms for psychogenic nonepileptic attacks versus epileptic seizures: A systematic review and meta-analysis

Epilepsy & Behavior ◽

10.1016/j.yebeh.2021.108030 ◽

2021 ◽

Vol 121 ◽

pp. 108030

Author(s):

Gabriela S. Gilmour ◽

Ryan MacIsaac ◽

Arsenije Subotic ◽

Samuel Wiebe ◽

Colin B. Josephson

Keyword(s):

Systematic Review ◽

Diagnostic Accuracy ◽

Meta Analysis ◽

Clinical Signs ◽

Epileptic Seizures ◽

Signs And Symptoms ◽

Clinical Signs And Symptoms

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Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials

Nutrients ◽

10.3390/nu12051487 ◽

2020 ◽

Vol 12 (5) ◽

pp. 1487 ◽

Cited By ~ 2

Author(s):

Rosaura Leis ◽

María-José de Castro ◽

Carmela de Lamas ◽

Rosaura Picáns ◽

María L. Couce

Keyword(s):

Systematic Review ◽

Lactose Intolerance ◽

Clinical Signs ◽

Signs And Symptoms ◽

Cochrane Collaboration ◽

Controlled Trials ◽

Lactase Deficiency ◽

Lactose Malabsorption ◽

Microbiome Composition ◽

Meta Analyses

Lactose intolerance (LI) is characterized by the presence of primarily gastrointestinal clinical signs resulting from colonic fermentation of lactose, the absorption of which is impaired due to a deficiency in the lactase enzyme. These clinical signs can be modified by several factors, including lactose dose, residual lactase expression, concurrent ingestion of other dietary components, gut-transit time, and enteric microbiome composition. In many of individuals with lactose malabsorption, clinical signs may be absent after consumption of normal amounts of milk or, in particular, dairy products (yogurt and cheese), which contain lactose partially digested by live bacteria. The intestinal microbiota can be modulated by biotic supplementation, which may alleviate the signs and symptoms of LI. This systematic review summarizes the available evidence on the influence of prebiotics and probiotics on lactase deficiency and LI. The literature search was conducted using the MEDLINE (via PUBMED) and SCOPUS databases following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, and included randomized controlled trials. For each study selected, the risk of bias was assessed following the Cochrane Collaboration methodology. Our findings showed varying degrees of efficacy but an overall positive relationship between probiotics and LI in relation to specific strains and concentrations. Limitations regarding the wide heterogeneity between the studies included in this review should be taken into account. Only one study examined the benefits of prebiotic supplementation and LI. So further clinical trials are needed in order to gather more evidence.

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Do Sideline Tests of Vestibular and Oculomotor Function Accurately Diagnose Sports-Related Concussion in Adults? A Systematic Review and Meta-analysis

The American Journal of Sports Medicine ◽

10.1177/03635465211027946 ◽

2021 ◽

pp. 036354652110279

Author(s):

Sarah A. Harris ◽

Alasdair R. Dempsey ◽

Katherine Mackie ◽

Doug King ◽

Mark Hecimovich ◽

...

Keyword(s):

Systematic Review ◽

Sensitivity And Specificity ◽

Assessment Tool ◽

Meta Analysis ◽

Clinical Signs ◽

Signs And Symptoms ◽

Assessment Tools ◽

Emotional Symptoms ◽

Level Of Evidence ◽

Clinical Signs And Symptoms

Background: Sports-related concussion (SRC) assessment tools are primarily based on subjective assessments of somatic, cognitive, and psychosocial/emotional symptoms. SRC symptoms remain underreported, and objective measures of SRC impairments would be valuable to assist diagnosis. Measurable impairments to vestibular and oculomotor processing have been shown to occur after SRC and may provide valid objective assessments. Purpose: Determine the diagnostic accuracy of sideline tests of vestibular and oculomotor dysfunction to identify SRC in adults. Study Design: Systematic review; Level of evidence, 4. Methods: Electronic databases and gray literature were searched from inception until February 12, 2020. Physically active individuals (>16 years of age) who participated in sports were included. The reference standard for SRC was a combination of clinical signs and symptoms (eg, the Sport Concussion Assessment Tool [SCAT]), and index tests included any oculomotor assessment tool. The QUADAS tool was used to assess risk of bias, with the credibility of the evidence being rated according to GRADE. Results: A total of 8 studies were included in this review. All included studies used the King-Devick test, with no other measures being identified. Meta-analysis was performed on 4 studies with a summary sensitivity and specificity of 0.77 and 0.82, respectively. The overall credibility of the evidence was rated as very low. Conclusion: Caution must be taken when interpreting these results given the very low credibility of the evidence, and the true summary sensitivity and specificity may substantially differ from the values calculated within this systematic review. Therefore, we recommend that clinicians using the King-Devick test to diagnose SRC in adults do so in conjunction with other tools such as the SCAT. PROSPERO Registration: CRD42018106632.

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