Mixed prevalence rates of co-occurring psychiatric and neurodevelopmental conditions have been reported in children diagnosed with an autism spectrum disorder (ASD). ASD diagnoses remain fairly stable within a continuum, but some do not meet criteria for an ASD diagnosis years after initial diagnosis.

Co-occurring neurodevelopmental and psychiatric conditions may explain, in part, why the diagnosis of an ASD may change with age. (Read the full article)

Head injuries and concern for skull fracture are common in pediatrics. Point-of-care ultrasound is an imaging tool that can be used to diagnose fractures. However, there are scant data regarding the accuracy of point-of-care ultrasound in skull fracture diagnosis.

Clinicians with focused point-of-care ultrasound training are able to diagnose skull fractures in children with high specificity. Ultrasound may be valuable to diagnose skull fractures in children at the point of care. (Read the full article)

Minority children are less likely than white children to be diagnosed and treated with attention-deficit/hyperactivity disorder. However, diagnosis patterns over time in early and middle childhood and whether confounding factors explain these disparities are not currently well understood.

Racial/ethnic disparities in attention-deficit/hyperactivity disorder diagnosis occur by kindergarten and continue until eighth grade. Racial/ethnic disparities among diagnosed children in medication use occur in both fifth and eighth grades. These disparities are not attributable to confounding factors. (Read the full article)

Despite the existence of authoritative guidelines to assist primary care physicians in identifying and managing attention-deficit/hyperactivity disorder (ADHD), ample evidence demonstrates that they continue to diagnose and treat this disorder suboptimally.

The introduction of a clinical decision support module resulted in higher quality of care with respect to ADHD diagnosis including a prospect for higher quality of ADHD management in children. (Read the full article)

Diabetic ketoacidosis (DKA) is a life-threatening condition and often the presenting symptom of newly diagnosed type 1 or type 2 diabetes in youth. SEARCH previously reported that the prevalence of DKA at diagnosis was 25.5% in 2002–2003.

DKA in youth with type 1 diabetes remains a problem, with almost one-third presenting with DKA. Among youth with type 2 diabetes, DKA was less common and decreased by ~10% per year, suggesting improved detection or earlier diagnosis. (Read the full article)

Delayed diagnosis of critical congenital heart defects (CCHDs) is associated with increased morbidity and mortality.

Despite increasing prenatal diagnosis rates, delayed diagnosis of CCHDs continues to occur, with rates highest among isolated cases and those delivered at nontertiary care hospitals. Better understanding of delayed diagnosis could help to improve screening efforts. (Read the full article)

IP-10 is a novel immunologic marker for tuberculosis (TB) infection. It has been suggested that IP-10 may perform better in children compared with the QuantiFERON test, but only a few studies have investigated IP-10 for diagnosing active TB in children.

This study is the first to investigate IP-10 and QuantiFERON for diagnosing TB in children by using consensus classifications. Both IP-10 and QuantiFERON exhibited poor performance in children from a high-burden setting, and performance was especially compromised in young children. (Read the full article)

Researchers speculate that children with fetal alcohol spectrum disorders often are not recognized or diagnosed correctly.

This is the first study to assess the rate of missed diagnoses and misdiagnosis in foster and adopted children with fetal alcohol spectrum disorders. (Read the full article)

Myxovirus resistance protein A (MxA) is a protein induced during viral infections. A few small-scale studies have suggested that MxA could be used as a marker of viral infection in clinical routine practice.

This study involves the largest patient population thus far and confirms the usefulness of MxA for diagnosing viral infections in children consulting the emergency department in a clinical routine setting. (Read the full article)

Infants with an inconclusive diagnosis of cystic fibrosis after newborn screening may turn out to have cystic fibrosis. However, little is known about the incidence, characteristics (phenotype and genotype), and outcomes of these infants to guide investigations and follow-up.

In this prospective longitudinal study, a proportion (11%) of infants with an initial inconclusive diagnosis were subsequently diagnosed with cystic fibrosis. This finding underscores the need for follow-up of this population. (Read the full article)

Little is known about the prevalence or outcomes of infants with indeterminate diagnostic results after a positive cystic fibrosis (CF) newborn screen (CF transmembrane conductance regulator–related metabolic syndrome [CRMS]).

CRMS accounted for 15.7% of newborn screened diagnoses in the CF Patient Registry from 2010 to 2012 (CRMS:CF ratio = 5.0:1.0). Although most infants were healthy, some infants demonstrated clinical features concerning for CF. (Read the full article)

Neonatal coarctation of the aorta (CoA) is a life-threatening cardiac defect, but because symptoms may be lacking initially, newborns with this defect are frequently discharged from the hospital undiagnosed. Delayed diagnosis of CoA is associated with increased morbidity and mortality.

This population-based study analyzes the contribution of prenatal ultrasound and postnatal pulse oximetry screening to the timely diagnosis of neonatal CoA. Both screening methods had low sensitivity for CoA. Nearly half of all newborns with isolated CoA were discharged undiagnosed. (Read the full article)

Prenatal diagnosis may lead to benefits in outcomes for certain forms of critical congenital heart disease. Despite recognized benefits, single-center studies and focused regional efforts suggest that prenatal detection rates for congenital heart disease remain low in the United States.

We describe prenatal detection rates for a large cohort of neonates and infants undergoing heart surgery across a range of congenital heart defects. Additionally, this study adds new information by demonstrating geographic variability of prenatal detection rates across the United States. (Read the full article)

Many studies have suggested that autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are commonly co-occuring neurodevelopmental conditions.

In children with co-occurring ASD and ADHD, an initial ADHD diagnosis may be associated with delayed ASD diagnosis and a higher likelihood of ASD diagnosis older than 6 years of age. Clinicians should consider ASD when evaluating young children presenting with ADHD symptoms. (Read the full article)

Philip M. Farrell
Jan 1, 2001; 107:1-13
ARTICLES

Kali Little was already extra grateful for her mom and grandmother this Mother's Day. Then her 3-year-old was diagnosed with COVID-19. ......

Title: Breast Cancer Prognosis May Be Worse If Diagnosis Follows 'Negative' Mammogram
Category: Health News
Created: 5/3/2018 12:00:00 AM
Last Editorial Review: 5/4/2018 12:00:00 AM

Purpose of review

Diverse adverse events have been associated with administration of glatiramer acetate (GA), mainly local reactions at the injection site. Other, less frequent generalized reactions include isolated postinjection reactions and anaphylaxis, which may lead to discontinuation of GA.

BACKGROUND AND OBJECTIVES:

Early diagnosis of cerebral palsy (CP) is critical in obtaining evidence-based interventions when plasticity is greatest. In 2017, international guidelines for early detection of CP were published on the basis of a systematic review of evidence. Our study aim was to reduce the age at CP diagnosis throughout a network of 5 diverse US high-risk infant follow-up programs through consistent implementation of these guidelines.

Cervical spondylotic myelopathy (CSM) is a neurologic condition that develops insidiously over time as degenerative changes of the spine result in compression of the cord and nearby structures. It is the most common form of spinal cord injury in adults; yet, its diagnosis is often delayed. The purpose of this article is to review the pathophysiology, natural history, diagnosis, and management of CSM with a focus on the recommended timeline for physicians suspecting CSM to refer patients to a spine surgeon. Various processes underlie spondylotic changes of the canal and are separated into static and dynamic factors. Not all patients with evidence of cord compression will present with symptoms, and the progression of disease varies by patient. The hallmark symptoms of CSM include decreased hand dexterity and gait instability as well as sensory and motor dysfunction. magnetic resonance imaging is the imaging modality of choice in patients with suspected CSM, but computed tomography myelography may be used in patients with contraindications. Patients with mild CSM may be treated surgically or nonoperatively, whereas those with moderate-severe disease are treated operatively. Due to the long-term disability that may result from a delay in diagnosis and management, prompt referral to a spine surgeon is recommended for any patient suspected of having CSM. This review provides information and guidelines for practitioners to develop an actionable awareness of CSM.

BACKGROUND:The threshold of the lower limit of the normal range of lung function has been suggested to be more accurate than the 0.7 fixed ratio (FEV1/FVC < 0.7) for a diagnosis of COPD. We aimed to explore the health status and risk factors of patients overdiagnosed with COPD when using the lower limit of the normal range as a diagnostic reference.METHODS:Subjects with COPD diagnosed by a pulmonologist according to guidelines of the Global Initiative for Chronic Obstructive Lung Disease were recruited from October 2016 to April 2018. Overdiagnosed COPD was defined as FEV1/FVC that meets the criterion of the 0.7 fixed ratio but not the the lower limit of the normal range criterion. Spirometry and questionnaires were performed by eligible subjects.RESULTS:Of the 513 subjects included in the final analysis, 20 (3.9%) were overdiagnosed when using the lower limit of the normal range as the diagnostic reference. The subjects who were overdiagnosed were older, weighed more, had better lung function, lower modified Medical British Research Council scores, and higher St. George's Respiratory Questionnaire and 36-item Short Form Survey scores than the subjects who were correctly diagnosed. Older age, heavier weight, exposure to cooking oil fumes, or a new-built or newly renovated home were associated with an increased risk of overdiagnosis of COPD (age adjusted odds ratio (OR) 1.17, 95% CI 1.09–1.26; weight adjusted OR 1.08, 95% CI 1.03–1.13; exposure to cooking oil fumes adjusted OR 3.00, 95% CI, 1.04–8.68; exposure to new-built or newly renovated home adjusted OR 10.88, 95% CI 1.46–80.87.CONCLUSIONS:The subjects with overdiagnosed COPD had a better health status and lung function than the subjects who were correctly diagnosed. Older age, heavier weight, and exposure to cooking oil fumes or a new-built or newly renovated home were factors associated with the overdiagnosis of COPD. These findings may help reduce overdiagnosis of COPD.

Quantitative bacterial culture of bronchoalveolar lavage fluids (BALF) is labor-intensive, and the delay involved in performing culture, definitive identification, and susceptibility testing often results in prolonged use of broad-spectrum antibiotics. The Unyvero lower respiratory tract (LRT) panel (Curetis, Holzgerlingen, Germany) allows the multiplexed rapid detection and identification of 20 potential etiologic agents of pneumonia within 5 h of collection. In addition, the assay includes detection of gene sequences that confer antimicrobial resistance. We retrospectively compared the performance of the molecular panel to routine quantitative bacterial culture methods on remnant BALF. Upon testing 175 BALF, we were able to analyze positive agreement of 181 targets from 129 samples, and 46 samples were negative. The positive percent agreement (PPA) among the microbial targets was 96.5%, and the negative percent agreement (NPA) was 99.6%. The targets with a PPA of <100% were Staphylococcus aureus (34/37 [91.9%]), Streptococcus pneumoniae (10/11 [90.9%]), and Enterobacter cloacae complex (2/4 [50%]). For the analyzable resistance targets, concordance with phenotypic susceptibility testing was 79% (14/18). This study found the Unyvero LRT panel largely concordant with culture results; however, no outcome or clinical impact studies were performed.

Lyme borreliosis is a tick-borne disease caused by the Borrelia burgdorferi sensu lato complex. Bio-Rad Laboratories has developed a fully automated multiplex bead-based assay for the detection of IgM and IgG antibodies to B. burgdorferi. The BioPlex 2200 Lyme Total assay exhibits an improved rate of seropositivity in patients with early Lyme infection. Asymptomatic subjects from endemic and nonendemic origins demonstrated a seroreactivity rate of approximately 4% that was similar to other commercial assays evaluated in this study. Coupled to this result was the observation that the Lyme Total assay retained a high first-tier specificity of 96% while demonstrating a relatively high sensitivity of 91% among a well-characterized CDC Premarketing Lyme serum panel. The Lyme Total assay also performs well under a modified two-tier algorithm (sensitivity, 84.4 to 88.9%; specificity, 98.4 to 99.5%). Furthermore, the new assay is able to readily detect early Lyme infection in patient samples from outside North America.

On 31 December 2019, the World Health Organization was informed of a cluster of cases of pneumonia of unknown etiology in Wuhan, China. Subsequent investigations identified a novel coronavirus, now named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), from the affected patients. Highly sensitive and specific laboratory diagnostics are important for controlling the rapidly evolving SARS-CoV-2-associated coronavirus disease 2019 (COVID-19) epidemic. In this study, we developed and compared the performance of three novel real-time reverse transcription-PCR (RT-PCR) assays targeting the RNA-dependent RNA polymerase (RdRp)/helicase (Hel), spike (S), and nucleocapsid (N) genes of SARS-CoV-2 with that of the reported RdRp-P2 assay, which is used in >30 European laboratories. Among the three novel assays, the COVID-19-RdRp/Hel assay had the lowest limit of detection in vitro (1.8 50% tissue culture infective doses [TCID₅₀]/ml with genomic RNA and 11.2 RNA copies/reaction with in vitro RNA transcripts). Among 273 specimens from 15 patients with laboratory-confirmed COVID-19 in Hong Kong, 77 (28.2%) were positive by both the COVID-19-RdRp/Hel and RdRp-P2 assays. The COVID-19-RdRp/Hel assay was positive for an additional 42 RdRp-P2-negative specimens (119/273 [43.6%] versus 77/273 [28.2%]; P < 0.001), including 29/120 (24.2%) respiratory tract specimens and 13/153 (8.5%) non-respiratory tract specimens. The mean viral load of these specimens was 3.21 x 10⁴ RNA copies/ml (range, 2.21 x 10² to 4.71 x 10⁵ RNA copies/ml). The COVID-19-RdRp/Hel assay did not cross-react with other human-pathogenic coronaviruses and respiratory pathogens in cell culture and clinical specimens, whereas the RdRp-P2 assay cross-reacted with SARS-CoV in cell culture. The highly sensitive and specific COVID-19-RdRp/Hel assay may help to improve the laboratory diagnosis of COVID-19.

BackgroundPolycystic ovary syndrome (PCOS) is a common lifelong metabolic condition with serious associated comorbidities. Evidence points to a delay in diagnosis and inconsistency in the information provided to women with PCOS.AimTo capture women’s experiences of how PCOS is diagnosed and managed in UK general practice.Design and settingThis was a mixed-methods study with an online questionnaire survey and semi-structured telephone interviews with a subset of responders.MethodAn online survey to elicit women’s experiences of general practice PCOS care was promoted by charities and BBC Radio Leicester. The survey was accessible online between January 2018 and November 2018. A subset of responders undertook a semi-structured telephone interview to provide more in-depth data.ResultsA total of 323 women completed the survey (average age 35.4 years) and semi-structured interviews were conducted with 11 women. There were five key themes identified through the survey responses. Participants described a variable lag time from presentation to PCOS diagnosis, with a median of 6–12 months. Many had experienced mental health problems associated with their PCOS symptoms, but had not discussed these with the GP. Many were unable to recall any discussion about associated comorbidities with the GP. Some differences were identified between the experiences of women from white British backgrounds and those from other ethnic backgrounds.ConclusionFrom the experiences of the women in this study, it appears that PCOS in general practice is not viewed as a long-term condition with an increased risk of comorbidities including mental health problems. Further research should explore GPs’ awareness of comorbidities and the differences in PCOS care experienced by women from different ethnic backgrounds.

At the end of 2019 and early 2020, an outbreak of pneumonia of unknown etiology emerged in the city of Wuhan in China. The cases were found to be caused by a novel beta coronavirus, which was subsequently named SARS-CoV-2 by the World Health Organization (WHO). The virus has since spread further in China and to other regions of the world, having infected more than 88 K people, and causing close to 3000 deaths as of March 1, 2020. More than 50 million people remain in quarantine at this time. Scientists and clinicians globally are working swiftly to combat COVID-19, the respiratory disease caused by the virus. Notably, diagnostic assays have been developed rapidly in many countries, and have played significant roles in diagnosis, monitoring, surveillance, and infection control. Starting February 29, 2020, the development and performance of molecular testing for SARS-CoV-2 in high complexity Clinical Laboratory Improvement Amendments (CLIA) laboratories prior to emergency use authorization was allowed by the US FDA. Although the epidemic is evolving rapidly, many valuable lessons have been learned and many questions remain to be answered. Here we invited multiple experts across the globe from clinical laboratories, public health laboratories, infection control, and diagnostic industry to share their views on the diagnosis, infection control, and public perception of SARS-CoV-2.

In low-dose computed tomography (LDCT) screening for lung cancer, all three main conditions for overdiagnosis in cancer screening are present: 1) a reservoir of slowly or nongrowing lung cancer exists; 2) LDCT is a high-resolution imaging technology with the potential to identify this reservoir; and 3) eligible screening participants have a high risk of dying from causes other than lung cancer. The degree of overdiagnosis in cancer screening is most validly estimated in high-quality randomised controlled trials (RCTs), with enough follow-up time after the end of screening to avoid lead-time bias and without contamination of the control group.

Nine RCTs investigating LDCT screening were identified. Two RCTs were excluded because lung cancer incidence after the end of screening was not published. Two other RCTs using active comparators were also excluded. Therefore, five RCTs were included: two trials were at low risk of bias, two of some concern and one at high risk of bias. In a meta-analysis of the two low risk of bias RCTs including 8156 healthy current or former smokers, 49% of the screen-detected cancers were overdiagnosed. There is uncertainty about this substantial degree of overdiagnosis due to unexplained heterogeneity and low precision of the summed estimate across the two trials.

Background:

The recent expansion of treatment options in acute myeloid leukemia (AML) has necessitated a greater understanding of patient preferences for treatment benefits, about which little is known.

The heir to the throne, 71, spent seven days self isolating at his Scottish home Birkhall, when he was told he had contracted the disease late last month.

A nurse who came from South Africa to the UK to bring her "passion for care" to the NHS has died after contracting coronavirus.

Coronavirus: the symptoms

Liverpool manager Jurgen Klopp has revealed the impact that club legend Sir Kenny Dalglish being diagnosed with coronavirus had on him and his players.

Leeds United great Norman Hunter remains "severely unwell" in hospital almost a week after being admitted with coronavirus.

Suspending professional football in England ahead of the government's decision to formally ban mass gatherings due to the coronavirus pandemic may have saved a number of lives, according to experts.

Dominic Matteo has opened up on the frightening moment that he was hit with a shock brain tumour diagnosis after seeking out an eye test.

The 46-year-old actress is now revealing the agony she went through before receiving a diagnosis of multiple sclerosis (MS) last August."Ever since my son was born, I was in an MS flare-up and didn't know, and I was giving it everything to seem normal," Blair told Robin Roberts in an interview that aired Tuesday on "Good Morning America." "And I was self-medicating when he wasn't with me. Blair recalled that she would get so fatigued prior to her diagnosis that she would need to pull over to take a nap after dropping her son, now 7, off at his school one mile away from their home. During her interview with "GMA" at her Los Angeles home, Blair was in an "exacerbation" of MS, or an attack that causes new symptoms or the worsening of existing symptoms.

Leanne and Steve are told their son has a life-threatening illness on Corrie

A small study funded by the National Institutes of Health suggests that sleep problems among children who have a sibling with autism spectrum disorder (ASD) may further raise the likelihood of an ASD diagnosis, compared to at-risk children who do not have difficulty sleeping. Previous research has shown that young children who have a sibling with ASD are at a higher risk for also being diagnosed with the condition.

Drug pricing in the U.S. is a persistently vexing policy problem. High drug prices stress consumers, payers, employers and “budgeteers”. At the same time the public demands new and better treatments, and the scientific advances that make such treatments possible. The pharmaceutical industry insists, with merit, that delivering new improved treatments, and in some cases…

VolitionRx’s Nucleosomics® diagnostic platform detects epigenetic changes to fragments of chromosomes, called nucleosomes, that circulate in the blood of cancer patients. Credit: VolitionRx.

[Source: Research & Innovation] EU-funded researchers have developed an ultrasensitive test to rapidly, accurately and cost-effectively diagnose disease, underpinned by innovative biosensing technology that could help combat the COVID-19 pandemic, HIV and cancer.

Only half of the people diagnosed with HIV in southern Mozambique enroll in medical care while others do not initiate the next step of HIV care, reports a new study.

In identifying people at high risk of developing Type 2 diabetes, dental teams were found to play an important role, suggested new research. The