Adaptation of the questionnaire Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) for the early screening of children

Abstract Guidelines exist for management of pulmonary arterial hypertension (PAH), but information is limited for certain patient subgroups, including adults with portopulmonary hypertension (PoPH) or with PAH associated with congenital heart disease (PAH-CHD). This article discusses screening, clinical management, and prognosis in PoPH and PAH-CHD and, as such, considers the most recent clinical data and expert advice. A multidisciplinary consultation and follow-up by specialists are crucial for management of both PoPH and PAH-CHD, but each condition presents with unique challenges. Development of PoPH most commonly occurs among patients with liver cirrhosis. Initially, patients may be asymptomatic for PoPH and, if untreated, survival with PoPH is generally worse than with idiopathic PAH (IPAH), so early identification with screening is crucial. PoPH can be managed with PAH-specific pharmacological therapy, and resolution is possible in some patients with liver transplantation. With PAH-CHD, survival rates are typically higher than with IPAH but vary across the four subtypes: Eisenmenger syndrome, systemic-to-pulmonary shunts, small cardiac defects, and corrected defects. Screening is also crucial and, in patients who undergo correction of CHD, the presence of PAH should be assessed immediately after repair and throughout their long-term follow-up, with frequency of assessments determined by the patient’s characteristics at the time of correction. Early screening for PAH in patients with portal hypertension or CHD, and multidisciplinary management of PoPH or PAH-CHD are important for the best patient outcomes.

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The Utility of V617F JAK2 Analysis for Patients with Erythrocytosis or Thrombocytosis in the General Hospital.

Blood ◽

10.1182/blood.v108.11.3630.3630 ◽

2006 ◽

Vol 108 (11) ◽

pp. 3630-3630

Author(s):

David Graham Oscier ◽

Amy Jones ◽

Louise Wallis ◽

Joe Chacko ◽

Nicholas C.P. Cross

Keyword(s):

Clinical Evaluation ◽

Diagnostic Yield ◽

Cell Mass ◽

Blood Film ◽

Volume Estimation ◽

Early Screening ◽

Abdominal Ultrasonography ◽

Heavy Smoking ◽

V617f Mutation

Abstract We performed a retrospective analysis of the diagnostic value of V617F JAK2 testing in 312 consecutive patients referred to the Royal Bournemouth Hospital over a 43 month period for investigation of erythrocytosis(n=247) or thrombocytosis (n=65). Clinical evaluation, FBC, ESR (in thrombocytosis cases) and examination of a blood film were performed in all cases. Erythrocytosis and thrombocytosis were transient in 71 and 8 patients respectively and few additional investigations were performed in these cases. Abdominal ultrasonography was performed in 187 patients; serum EPO was measured in 130 patients and bone marrow examination was performed in 30. Based on this data, patients with a persistent erythrocytosis were initially classified as having a secondary cause, predominantly heavy smoking +/− high alcohol intake (n=89), features of P Vera, including 4 with presenting iron deficiency (n= 19) or no obvious cause (n=68). Red cell mass and plasma volume estimation was only sporadically available, and was performed in 63 patients with either a secondary or no obvious cause for erythrocytosis. Only 11/63 had a true erythrocytois. Marrow examination was undertaken in 38 cases with thrombocytosis. Persistent thrombocytosis cases were classified as primary thrombocythaemia (PT) (n=35), reactive (n=5), idiopathic (n=5) or CML (n=1). Peripheral blood leucocytes were subsequently screened for the V167F mutation using allele specific PCR and pyrosequencing. This test was offered to all 304 live patients. Results are available on 136 erythrocytosis patients (81% of patients with regular haematology follow up and 32% of discharged cases) and 42 thrombocytosis patients. (90% with follow up and 21% of discharges) Table 1 shows the incidence of V617F mutations among patients with erythrocytosis grouped according to the original diagnosis. Marrow examination in the one V617F-ve case of P Vera was consistent with an MPD. The diagnostic yield of V617F screening in patients not suspected of having P Vera was low. A low seum Epo was a poor predictor of either a JAK2 mutation or a diagnosis of P Vera. Only 2/187 abdominal US scans provided a clinically important diagnosis unsuspected from other investigations. No additional cause for erythrocytosis was found in patients who smoked heavily. Heterozygous V617F was found in 22/33 patients clinically diagnosed as PT, including 3/4 whose platelet count was <600×109/l and in 0/10 patients with other causes of thrombocytosis. V617F was detected in 10/19 patients whose marrow was consistent with PT and in 3/5 patients with suspected PT whose marrows were considered normal or technically unsatisfactory. In summary a combination of better defined criteria for haematology referral and early screening of selected patients for the V617F mutation, based on clinical evaluation, and the results of an FBC, ESR and blood film, can provide a rapid diagnosis for the majority of patients with P Vera and PT and reduce the need for additional investigations. Incidence of V617 Mutations in Patients with Erythrocytosis Transient Secondary Idiopathic P. Vera Abnormal Abdo US 1 splenomegaly 2 splenomegaly 2 renal Ca 2 splenomegaly 3 splenomegaly Abnormal serum EPO none 2 low, 2 high 6 low 7 low Marrow cosistent with MPD 0/1 0/6 1/10 13/13 Elevated RBC mass 0/2 3/13 5/22 2/2 V617F mutation 1/30 0/34 2/51 16/17 (2 homozygous loss)

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Prevalence and incidence of pulmonary arterial hypertension: 10-year follow-up of an unselected systemic sclerosis cohort

Journal of Scleroderma and Related Disorders ◽

10.5301/jsrd.5000246 ◽

2017 ◽

Vol 2 (3) ◽

pp. 196-202 ◽

Cited By ~ 3

Author(s):

Els Vandecasteele ◽

Karin Melsens ◽

Kristof Thevissen ◽

Michel De Pauw ◽

Ellen Deschepper ◽

...

Keyword(s):

Systemic Sclerosis ◽

Pulmonary Arterial Hypertension ◽

Arterial Hypertension ◽

Incidence Rate ◽

Specific Treatment ◽

Early Screening ◽

European Respiratory Society ◽

Pulmonary Arterial ◽

Incident Cases

Introduction Early screening for pulmonary arterial hypertension (PAH) in systemic sclerosis (SSc) improves outcome. Therefore, we evaluated the screening for PAH during the 10-year follow-up of an unselected prospective SSc cohort by calculating the prevalence and the incidence rate of PAH and we compared the screening before and after implementation of the 2009 European Society of Cardiology/European Respiratory Society (ESC/ERS) guidelines. Methods Data were evaluated from each SSc-specific visit of 362 consecutive SSc patients included in the SSc Cohort of the Ghent University between May 2006 and December 2015. Results Of the 362 included patients, 23.2% had limited SSc, 59.9% limited cutaneous SSc and 16.9% diffuse cutaneous SSc. At baseline, one patient was already on PAH-specific treatment and eight patients were diagnosed with PAH, implicating a baseline PAH prevalence of 2.5% (9/362). During follow-up (median of 18 months [interquartile range: 0-54 months]), nine patients were diagnosed with incidental PAH, resulting in an incidence rate of 9.3/1000 person-years, 95% confidence intervals (95% CI): 4.3-17.7. Before the ESC/ERS guidelines, five PAH patients, all already diagnosed with prevalent PAH, were included in the cohort. After 2009, 13 patients (4 prevalent cases) were diagnosed with PAH, making the yearly incidence around 1% (0.82%-2.00%). Conclusions During 10-year follow-up in a cohort of 362 unselected SSc patients, the cumulative prevalence of PAH is 5% (18/362) and the incidence rate 9.3/1000 person-years, 95% CI: 4.3-17.7. Before implementation of the 2009 ESC/ERS screening algorithm, there were no incident cases.

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Comparison of the frailty phenotype and the Tilburg Frailty Indicator regarding the prediction of quality of life in a two-year follow-up

European Psychiatry ◽

10.1016/j.eurpsy.2016.01.405 ◽

2016 ◽

Vol 33 (S1) ◽

pp. S185-S185

Author(s):

T. Coelho ◽

C. Paúl ◽

L. Fernandes

Keyword(s):

Quality Of Life ◽

Adverse Outcomes ◽

Community Dwelling ◽

Stressful Events ◽

Early Screening ◽

Frailty Phenotype ◽

Tilburg Frailty Indicator ◽

Frailty Indicator

IntroductionFrail individuals are highly vulnerable to minor stressful events, presenting a higher risk for adverse health outcomes (e.g. falls, disability, hospitalization), which can lead to a decline in quality of life (QoL). In this context, an early screening of elderly frailty is of crucial importance.ObjectiveTo compare how the Frailty Phenotype (FP) and the Tilburg Frailty Indicator (TFI) predict QoL in a two-year follow-up.MethodsA longitudinal study was designed recruiting 110 community-dwelling elderly (≥ 65 years). The presence of frailty was assessed at baseline (FP ≥ 3 and TFI ≥ 6), whereas QoL was measured two years later with two different scales: the WHOQOL-OLD and the EUROHIS-QOL-8. Hierarchical regressions were conducted.ResultsThe mean age of the participants at baseline was 77.7 ± 6.9 years, and most were women (75.5%). According to FP, 33.6% of the participants were classified as frail, while the TFI detected frailty in 50% of the elderly. After adjusting for age and gender, the TFI significantly predicted QoL (WHOQOL-OLD: β = −18.9, t(106) = −6.97, P < 0.001; EUROHIS-QOL-8: β = −6.1, t(106) = −6.71, P < 0.001), whereas the effect of the FP on the outcome measures was non-significant.ConclusionsFrailty at baseline was associated with a lower QoL at follow-up. A multidimensional frailty operationalization (TFI) showed a stronger predictive validity than an exclusively physical one (FP). The option of which frailty measure to use in a clinical setting should take into account its ability to predict specific adverse outcomes, conducing to targeted and effective interventions.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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559 - Neuropsychiatric symptomatology after severe COVID-19 in older survivors

International Psychogeriatrics ◽

10.1017/s1041610221002544 ◽

2021 ◽

Vol 33 (S1) ◽

pp. 98-99

Author(s):

Sónia Martins ◽

Ana Rita Ferreira ◽

Joana Fernandes ◽

Tatiana Vieira ◽

Liliana Fontes ◽

...

Keyword(s):

Cognitive Impairment ◽

Terminal Illness ◽

Neuropsychiatric Symptoms ◽

Invasive Mechanical Ventilation ◽

Strong Relationship ◽

University Hospital ◽

Early Screening ◽

Positive Health ◽

Successful Recovery

Background:The coronavirus disease 2019 (COVID-19) has rapidly spread worldwide, leading to increased concerns about long-term patients’ neuropsychiatric morbidity. Currently, there is still few data regarding mental health after hospital discharge of severe COVID-19 elderly patients. Considering this, the present study aims to characterize the neuropsychiatric morbidity in old severe COVID-19 patients.Methods:In the context of an ongoing multidisciplinary research project, this study analyzed a subsample of patients aged ≥60 years, admitted due to COVID-19, during the first wave, in the Intensive Care Medicine Department (ICMD) of a University Hospital in Porto, Portugal. ICMD length of stay (LoS) ≤24h, terminal illness, major auditory loss or inability to communicate at the time of follow- up were used as exclusion criteria. Participants were evaluated by telephone in average 99 (±32) days after being discharged from the hospital, with Six-item Cognitive Impairment Test, PatientHealth Questionnaire and Generalized Anxiety Disorder Scale. Sociodemographic and relevant clinicaldata were obtained from hospital electronic records and clinical interview.Results:A sample of 39 survivors with a mean age of 70 (±6.3) years old were assessed. The majority were male (62%), married (64%), retired (77%), with low educational level (59%), and 15% lived alone. The average number of comorbidities and the daily medications per patient were 4.7 (±1.7) and 5.5 (±3.5), respectively.During ICMD stay, 69% had nosocomial infections and 56% delirium. Deep sedation was used in 74% of the patients (mean=30 days) and 74% needed Invasive Mechanical Ventilation. ICMD mean LoS was33 (±28.3) days. Based on follow-up assessment, 18% of survivors had cognitive impairment, whereas23% and 15% had depressive and anxiety symptoms, respectively. A positive and high correlation between depression and anxiety was found (rs=0.792; p<0.001). No significant associations were observed with cognitive impairment.Conclusions:The presence of this symptomatology may hinder a successful recovery once the patient is discharged back home. This is particularly relevant accruing the strong relationship between depressive and anxious symptoms found in this sample. Therefore, early screening and timely multidisciplinary support interventions to minimize these neuropsychiatric symptoms after discharge should be considered in order to achieve positive health outcomes.

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Overlapping syndrome mimicking infectious meningoencephalitis in a patient with MOG and GFAP IgG

10.21203/rs.3.rs-58053/v1 ◽

2020 ◽

Author(s):

Su-qiong Ji ◽

Chen-chen Liu ◽

Bi-tao Bu

Keyword(s):

White Matter ◽

Oral Prednisolone ◽

Pulse Therapy ◽

Tuberculosis Treatment ◽

Early Screening ◽

Steroid Pulse ◽

Csf Analysis ◽

Magnetic Resonance Imaging Mri ◽

The Right

Abstract Background The presence of CNS overlapping autoimmune syndrome is not uncommon, but only one case of overlapping syndrome with coexistence of MOG-IgG and GFAP-IgG had been reported. This is the first reported case of these double antibodies positive presenting as clinical meningoencephalitis. Case presentation: A 23-year-old woman presented with transient convulsions,loss of consciousness, persistent fever, headache and vomiting. The cerebrospinal fluid (CSF) analysis revealed elevated cellularity, Magnetic resonance imaging (MRI) showed diffuse leptomeningeal enhancement. She remained fever and headache with antiviral and antibiotic treatment for two weeks, then was treated with empirical anti-tuberculosis treatment and oral prednisolone therapy. She followed up at 3 months from presentation with symptoms improved and normal CSF analysis. 3-month follow-up MRI performed asymmetric lesions in the cerebellum, corona radiata, and white matter with enhancement. Anti-tuberculosis treatment was continued and steroid was discontinued. After She stopped taking the prednisolone, interrupted headache gradually appeared. MRI at 4 months after presentation revealed partial reduced extent of lesions, but enlarged areas in left cerebellum and right parietal white matter, as well as a new lesion in the region of the right ependyma with linearly enhancement. Screening for anti-myelin oligodendrocyte glycoprotein (MOG) antibody and anti-glial fibrillary acidic protein (GFAP) antibody were positive in CSF by transfected cell-based assay. She was diagnosed with overlapping syndrome of MOG‑IgG‑associated disease and GFAP astrocytopathy and received steroid pulse therapy (methylprednisolone 1 g for 5 days) followed by a gradual tapering of oral prednisolone, as well as addition of immunosuppressant (tacrolimus, 3 mg per day). 6 months after the patient’s initial presentation, no symptom was found, MRI showed the lesions had obviously diminished and no enhancement was found. Conclusions To our knowledge, this is the first reported case of overlapping syndrome with coexistence of MOG-IgG and GFAP-IgG presenting as clinical meningoencephalitis. The early screening of autoantibodies against CNS antigens was of great importance for the patient suspected of intracranial infection to make the definite diagnosis.

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Information and Communication Technologies to Support Early Screening of Autism Spectrum Disorder: A Systematic Review

Children ◽

10.3390/children8020093 ◽

2021 ◽

Vol 8 (2) ◽

pp. 93

Author(s):

Lorenzo Desideri ◽

Patricia Pérez-Fuster ◽

Gerardo Herrera

Keyword(s):

Systematic Review ◽

Autism Spectrum Disorder ◽

Information And Communication Technologies ◽

Digital Libraries ◽

English Language ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Screening Tools ◽

Early Screening

The aim of this systematic review is to identify recent digital technologies used to detect early signs of autism spectrum disorder (ASD) in preschool children (i.e., up to six years of age). A systematic literature search was performed for English language articles and conference papers indexed in Pubmed, PsycInfo, ERIC, CINAHL, WoS, IEEE, and ACM digital libraries up until January 2020. A follow-up search was conducted to cover the literature published until December 2020 for the usefulness and interest in this area of research during the Covid-19 emergency. In total, 2427 articles were initially retrieved from databases search. Additional 481 articles were retrieved from follow-up search. Finally, 28 articles met the inclusion criteria and were included in the review. The studies included involved four main interface modalities: Natural User Interface (e.g., eye trackers), PC or mobile, Wearable, and Robotics. Most of the papers included (n = 20) involved the use of Level 1 screening tools. Notwithstanding the variability of the solutions identified, psychometric information points to considering available technologies as promising supports in clinical practice to detect early sign of ASD in young children. Further research is needed to understand the acceptability and increase use rates of technology-based screenings in clinical settings.

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Treatment and follow-up of fetuses that developed congenital heart block due to autoantibody in two cases

Journal of International Medical Research ◽

10.1177/0300060520925596 ◽

2020 ◽

Vol 48 (6) ◽

pp. 030006052092559

Author(s):

Min Hou ◽

Ying Zhao ◽

Xiao-Wei Liu ◽

Yi-Hua He

Keyword(s):

Autoimmune Disease ◽

Heart Block ◽

Congenital Heart ◽

Clinical Manifestations ◽

In Utero ◽

Congenital Heart Block ◽

The Other ◽

Early Screening ◽

Prenatal Intervention

Objective Autoantibody-related congenital heart block (ACHB) is a passively acquired autoimmune disease. This study aimed to examine the pathogenesis, clinical manifestations, and treatment of ACHB. Method The clinical data of two fetuses with first-degree ACHB were retrospectively analyzed. Results Two pregnant women were strongly positive for anti-Sjögren’s syndrome-related antigen A (SSA) antibody. Among these two cases, one had a prolonged atrioventricular (AV) interval at 28+3 weeks in utero, while the other had a prolonged AV interval at 24+6 weeks in utero. After prenatal intervention, one patient recovered to normal, while one fetus continued to have ACHB after treatment with dexamethasone and intravenous immunoglobulin. Furthermore, the two neonates were positive for anti-SSA antibody and were diagnosed with ACHB. Conclusion The pathogenesis of ACHB is closely correlated with anti-SSA/Ro antibody and anti-SSB/La antibody from the mother, and is affected by fetal susceptibility. Early screening and early intervention for ACHB are important.

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Metastatic gastrointestinal stromal tumours-a rarest of rare presentation: a case report

International Surgery Journal ◽

10.18203/2349-2902.isj20211441 ◽

2021 ◽

Author(s):

Chandramouli Govindarajulu ◽

Shanmugam Papu Gayathre ◽

Kannan Ross ◽

Kudiyarasu Mugunthan

Keyword(s):

Small Intestine ◽

Emergency Laparotomy ◽

Limited Data ◽

Gastrointestinal Stromal Tumours ◽

Early Screening ◽

Rare Presentation ◽

Biopsy Report ◽

Multimodality Approach ◽

Resection And Anastomosis

Gastrointestinal stromal tumours (GISTs) is the most common mesenchymal tumour of the gastrointestinal tract (GIT). GISTs can occur anywhere along the GIT, more so commonly in the stomach and small intestine. They can manifest as an emergency such as obstruction, perforation of a hollow viscous or as a haemorrhage. The metastatic stage was usually detected after the histopathologic report. We report on a 29-year female para 1 live 1 (P1L1) admitted at the institute of obstetrics and gynaecology (IOG) Egmore, Chennai, as a case of right torsion ovary. The patient was taken for an emergency laparotomy. Ovaries are found to be normal and so the surgical team was called in. Per-operative diagnosis of ileo-ileal intussusception was made, followed by resection and anastomosis. Biopsy report of the specimen showed a GIST, arising from the small intestine causing the intussusception. Further follow-up of the patient with CECT abdomen showed hepatic metastasis in segments 4a and 7. GISTs tumours data on worldwide frequency is limited, especially in the 3rd world countries. Adding to the limited data GISTs present themselves in protean ways. It is then necessary to understand not only the presentation but also the complications. Multimodality approach involving early screening, dissemination of knowledge regarding various types of presentation and the tools to manage such complications, early involvement of medical gastroenterology and medical oncology along with patient education will go a long way in the management of these difficult tumours.

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Elevated basal serum levels of calcitonin and simultaneous surgery of MEN2A-specific tumors

10.21203/rs.3.rs-58755/v1 ◽

2020 ◽

Author(s):

Hai-Xiao Tang ◽

Hao Yang ◽

Feng Li ◽

Zhi-Lie Cao ◽

Yun-Teng Huang ◽

...

Keyword(s):

Lymph Node ◽

Histopathological Examination ◽

Serum Levels ◽

Early Screening ◽

Neck Lymph Node ◽

Serum Calcitonin ◽

Basal Serum ◽

Simultaneous Surgery ◽

Cutaneous Lichen Amyloidosis

Abstract Background Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome caused almost by germline RET mutation, and characterized by medullary thyroid carcinoma (MTC), in combination or not with pheochromocytoma (PHEO), hyperparathyroidism (HPTH), cutaneous lichen amyloidosis (CLA) and Hirschsprung’s disease (HD). The basal serum calcitonin (Ctn)/carcinoembryonic antigen (CEA) levels are significantly correlated with MTC stage. Metachronous surgery of MEN2A-specific tumors is a routine procedure. We aimed to explore the clinical significance of pro-gastrin-releasing peptide (proGRP) in MTC with elevated Ctn, and simultaneous surgery of MEN2A-specific tumors. Methods We retrospectively investigated 8 RET mutation carriers of 2 Chinese pedigrees with MEN2A. Clinical profiles, imaging examinations, preoperative and postoperative biochemical data, surgical procedures and follow-up records were evaluated. Results Three patients showed the levels of elevated Ctn, but normal proGRP. Among them, one patient (FAIII-6) in Family A (one for RET C634R mutation), diagnosed with bilateral MTC, left PHEO, bilateral HPTH and CLA, classified as MEN2A-related CLA subtype, underwent successfully simultaneous adrenal-sparing surgery (ASS), total thyroidectomy (TT) and parathyroidectomy, while TT of the other two patients (FBII-3 and FBIII-7) diagnosed with bilateral MTC in Family B (all for RET C618R mutation) were performed. Unexpectedly, absence of neck lymph node MTC metastasis was indicated by histopathological examination. Postoperatively, all had consistently “undetectable” or normal levels of Ctn/CEA during follow-up. Conclusions Patients with normal proGRP, despite high levels of Ctn, might have noregional lymph node MTC metastasis, and neck dissection should be avoided. Moreover, simultaneous surgery for coexistent PHEO, and either MTC or HPTH is an approach of choice to use as an alternative treatment pattern. Recognition of MEN2A-related CLA and subsequently early screening of RET mutation may be favorable for timely management of MEN2A-specific tumors.

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