Family Impact During the Time Between Autism Screening and Definitive Diagnosis

The deleterious effect of post mortem degeneration results in a progressive loss of ultrastructural detail. This had led to reluctance (if not refusal) to examine autopsy material by means of transmission electron microscopy. Nevertheless, Johannesen has drawn attention to the fact that a sufficient amount of significant features may be preserved in order to enable the establishment of a definitive diagnosis, even on “graveyard” tissue.Routine histopathology of the autopsy organs of a woman of 78 showed the presence of a well circumscribed adenoma in the anterior lobe of the pituitary. The lesion came into close apposition to the pars intermedia. Its architecture was more compact and less vascular than that of the anterior lobe. However, there was some grouping of the cells in relation to blood vessels. The cells tended to be smaller, with a higher nucleocytoplasmic ratio. The cytoplasm showed a paucity of granules. In some of the cells, it was eosinophilic.

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Serpiginous Granuloma Annulare: A Case Report

International Journal of Innovative Research in Medical Science ◽

10.23958/ijirms/vol03-i02/17 ◽

2018 ◽

Vol 3 (02) ◽

Author(s):

Rajni Sharma ◽

Sujaya Manvi

Keyword(s):

Skin Condition ◽

Positive Tuberculin Skin Test ◽

Definitive Diagnosis ◽

Granuloma Annulare ◽

Unknown Etiology ◽

Thyroid Disorders ◽

Precipitating Factors ◽

Immunological Mechanism ◽

Physical Trauma ◽

Insect Bites

Granuloma annulare (GA) is a benign inflammatory skin condition of unknown etiology. Various clinical forms of GA including localized, generalized, subcutaneous, patch and perforating types, have been described. Although the etiology and pathogenesis of granuloma annulare are obscure, there is much evidence for an immunological mechanism. Precipitating factors are insect bites, sunburn, photochemotherapy, drugs, physical trauma, acute phlebitis and sepsis after surgery.[1] Some authors have proposed that it might be associated with a variety of underlying conditions such as thyroid disorders, diabetes mellitus and positive tuberculin skin test.[2] For definitive diagnosis, a biopsy should be performed. We report a case of generalized GA with serpiginous borders on the dorsal aspects of the hands and arms along with an association with diabetes.

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The Invisible Evil Twin of an Adrenal Adenoma

Journal of Clinical and Health Sciences ◽

10.24191/jchs.v4i1.7283 ◽

2019 ◽

Vol 4 (1) ◽

pp. 58

Author(s):

Aimi Fadilah Mohamad ◽

Fatimah Zaherah Mohamed Shah ◽

Nur Aisyah Zainordin ◽

Ur 'Aini Eddy Warman ◽

Nazimah Ab Mumin ◽

...

Keyword(s):

Adrenal Glands ◽

Adrenal Adenoma ◽

Definitive Diagnosis ◽

Dynamic Tests ◽

Venous Sampling ◽

Aldosterone Secretion ◽

Aldosterone Level ◽

Suppression Test ◽

The Right ◽

Secondary Causes

Primary aldosteronism (PA) causes a persistently elevated blood pressure (BP) due to excessive release of the hormone aldosterone from the adrenal glands. Classically, it is called Conn’s syndrome and is described as the triad of hypertension and hypokalemia with the presence of unilateral adrenal adenoma. It can be cured with surgical resection of the aldosterone-secreting adenoma leading to resolution of hypertension, hypokalemia and increased cardiovascular risk associated with hyperaldosteronism. We present a case of a man with previous ischemic heart disease (IHD) who presented with resistant hypertension. Investigations for secondary causes of hypertension revealed an elevated aldosterone level and saline suppression test confirmed the diagnosis of PA. Radiological examination revealed a left adrenal adenoma and a normal right adrenal gland. However, adrenal venous sampling showed lateralization of aldosterone secretion towards the right. He subsequently underwent a laparoscopic right adrenalectomy which improved his BP control promptly. This case highlights the importance of recognizing the need to investigate for secondary causes of hypertension. It also underscores the importance of dynamic tests, which may not be easily accessible to most clinicians but should pursue, to allow a definitive diagnosis and effective treatment.

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HISTOPATHOLOGY OF THE PIGMENTED TUMORAL-LIKE LESIONS OF THE SKIN AT HUE HOSPITAL OF MEDICINE AND PHARMACY UNIVERSITY

Journal of Medicine and Pharmacy ◽

10.34071/jmp.2018.4.9 ◽

2018 ◽

Vol 8 (4) ◽

pp. 65-69

Author(s):

Mao Nguyen Van ◽

Dong Tran Nam

Keyword(s):

Key Words ◽

Definitive Diagnosis ◽

The Other ◽

Cell Tumour ◽

Cross Sectional ◽

Skin Tumour ◽

Clinical Appearance ◽

The Face ◽

The Common ◽

Difficult Cases

Background: Pigmented tumour of the skin is one of the common tumour in human including the benign pigmented tumours (more common) called Nevi tumours and the malignant one called melanoma which was less frequent but the most poor in prognosis. In addition, the others not belonging to these group had the same clinical appearance, so the application of histopathology and immunohistochemistry for the definitive diagnosis was indespensible. Objectives: 1. To describe the macroscopic features of the pigmented tumoral-like lesions; 2. To classify the histopathologic types of the pigmented cell tumours and the other pigmented tumours of the skin. Materials and Method: Cross-sectional research on 55 patients diagnosed as pigmented tumoral lesions by clinician, then all definitively diagnosed by histopathology combining the immunohistochemistry in difficult cases. Results: There was no difference in gender, the disease was discovered most common in adult, especially with the age over 51 years old (58.1%). the most region located was in the face accounting for 60%, following the trunk and limbs (14.6%, 12.8% respectively). All 3 malignant melanomas happened in foot. The most common color of the lesions was black (65.4%), the other ones were rose, grey and blue. Histopathology and immunohisthochemistry showed that the true pigmented cell tumours were 52.6% encompassing benign ones (Nevi tumour) (41.8%), melanoma (5.4%) and lentigo (5.4%). 47.4% was not the true pigmented cell tumour including pigmented basocellular carcinoma (36.4%) and the others less common as histiofibromas, acanthoma and papilloma. Conclusion: the pigmented tumoral-like lesions of the skin could be the true pigmented cell tumours and the others, so the application of the histopathology and the immunohistochemistry after the clinical discovery helps to determine and classify the disease definitely and for the best orientation of treatment as well. Key words: skin tumour, benign pigmented tumour (Nevi), malignant pigmented tumour (melanoma), pigmented basocellular carcinoma

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Immunohistochemistry Particularities of Retroperitoneal Tumors

Revista de Chimie ◽

10.37358/rc.18.7.6422 ◽

2018 ◽

Vol 69 (7) ◽

pp. 1813-1816 ◽

Cited By ~ 1

Author(s):

Ovidiu Gabriel Bratu ◽

Radu Dragos Marcu ◽

Bogdan Socea ◽

Tiberiu Paul Neagu ◽

Camelia Cristina Diaconu ◽

...

Keyword(s):

Clinical Presentation ◽

Histopathological Examination ◽

Good Reason ◽

Definitive Diagnosis ◽

Histological Type ◽

Not Given ◽

Medical Specialties ◽

Retroperitoneal Tumors ◽

Extreme Variability ◽

The One

Retroperitoneal space is called sometimes no man�s land�and for a good reason: this is disputed anatomical territory for many surgical and medical specialties. Their wide histological diversity and unspecific clinical presentation make them a challenge for the surgeon. In order to improve their detection immunohistochemistry seems to show promising results. Methods of detection have evolved over time to identify as much as possible the histological type of tumor. Because of this extreme variability immunohistochemistry through its various markers is the one that often sets the definitive diagnosis, the simple histopathological examination being insufficient. This paper aims to highlight the main markers used in retroperitoneal tumors. As it can be seen there is a huge histologic areal for these tumors. Some have proven some of them still not. Given the fact that there is a tendency toward personalized therapy it is imperative to identify the histological type of tumor as soon as possible.

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Use of Machine Learning to Investigate the Quantitative Checklist for Autism in Toddlers (Q-CHAT) towards Early Autism Screening

Diagnostics ◽

10.3390/diagnostics11030574 ◽

2021 ◽

Vol 11 (3) ◽

pp. 574

Author(s):

Gennaro Tartarisco ◽

Giovanni Cicceri ◽

Davide Di Pietro ◽

Elisa Leonardi ◽

Stefania Aiello ◽

...

Keyword(s):

Machine Learning ◽

High Performance ◽

Behavioral Science ◽

Autistic Traits ◽

Classification Performance ◽

Recursive Feature Elimination ◽

Diagnostic Tools ◽

Support Vector ◽

K Nearest Neighbors ◽

Autism Screening

In the past two decades, several screening instruments were developed to detect toddlers who may be autistic both in clinical and unselected samples. Among others, the Quantitative CHecklist for Autism in Toddlers (Q-CHAT) is a quantitative and normally distributed measure of autistic traits that demonstrates good psychometric properties in different settings and cultures. Recently, machine learning (ML) has been applied to behavioral science to improve the classification performance of autism screening and diagnostic tools, but mainly in children, adolescents, and adults. In this study, we used ML to investigate the accuracy and reliability of the Q-CHAT in discriminating young autistic children from those without. Five different ML algorithms (random forest (RF), naïve Bayes (NB), support vector machine (SVM), logistic regression (LR), and K-nearest neighbors (KNN)) were applied to investigate the complete set of Q-CHAT items. Our results showed that ML achieved an overall accuracy of 90%, and the SVM was the most effective, being able to classify autism with 95% accuracy. Furthermore, using the SVM–recursive feature elimination (RFE) approach, we selected a subset of 14 items ensuring 91% accuracy, while 83% accuracy was obtained from the 3 best discriminating items in common to ours and the previously reported Q-CHAT-10. This evidence confirms the high performance and cross-cultural validity of the Q-CHAT, and supports the application of ML to create shorter and faster versions of the instrument, maintaining high classification accuracy, to be used as a quick, easy, and high-performance tool in primary-care settings.

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The contribution of French patient and consumer groups to health technology assessments over a 2-year period: an observational retrospective study

International Journal of Technology Assessment in Health Care ◽

10.1017/s0266462321000180 ◽

2021 ◽

Vol 37 (1) ◽

Author(s):

Cedric Gesbert ◽

Joëlle André-Vert ◽

Marc Guerrier ◽

Margaret Galbraith ◽

Christine Devaud ◽

...

Keyword(s):

Retrospective Study ◽

Human Resources ◽

Data Extraction ◽

Health Technology ◽

Family Impact ◽

National Authority ◽

Public Authorities ◽

Pricing Decision ◽

Open Question

Abstract Background In 2017, The French National Authority for Health (HAS) created an open, online, systematic contribution process to enable patient and consumer groups (PCGs) to contribute to health technology assessment (HTA) carried out to aid public authorities in reimbursement and pricing decision making. Objectives This retrospective study analyzes how French PCGs contributed to the HTA process within the HAS for the first 2 years of this new mechanism. Methods PCG contributions received between 01 January 2017 and 31 December 2018 and the recording of deliberations leading to reports of the corresponding HTAs were included. Analysis grids were designed by the investigators with 5 rounds of refinement tests on 10 random PCG contributions and the reports. Systematic data extraction was then performed separately by two investigators. PCG answers to the open-question templates and the related final HTA report published by the HAS were analyzed. Results Seventy-nine contributions from 44 PCGs were received and analyzed by the HAS for 78 out of the 592 HTAs performed for drugs or medical devices during the 2-year period. Twenty-five percent of the HTAs performed for drugs received at least one contribution. The contributions covered quality-of-life aspects, access to care, and personal and family impact. Membership and budget of the contributing PCGs varied greatly. Conclusions The experience gained in the first 2 years demonstrates the feasibility of the process and the fact that PCG contribution actually provides relevant input on the patient perspective for HTAs used for reimbursement decisions. The challenges identified on the side of PCGs were time constraints and human resources.

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Autism screening: The perfect vs the good

The Journal of Pediatrics ◽

10.1016/j.jpeds.2021.04.024 ◽

2021 ◽

Vol 233 ◽

pp. 1-3

Author(s):

Jane A. Oski

Keyword(s):

Autism Screening

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Parent stress and coping trajectories in Hispanic and non-Hispanic families of children at risk of autism spectrum disorder

Autism ◽

10.1177/13623613211001611 ◽

2021 ◽

pp. 136236132110016

Author(s):

Emily J Hickey ◽

Michelle Stransky ◽

Jocelyn Kuhn ◽

Jessica E Rosenberg ◽

Howard J Cabral ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Parenting Stress ◽

Autism Spectrum ◽

Diagnostic Process ◽

Stress Coping ◽

Family Impact ◽

Hispanic Parents ◽

Hispanic Families ◽

Parent Experiences ◽

Over Time

Significant disparities exist between Hispanic and non-Hispanic families in time-to-diagnosis among children identified as at risk of autism spectrum disorder; yet, little is known about parent experiences throughout the diagnostic process that may contribute to or help explain these disparities. The current study examined longitudinal trajectories of parenting stress, coping, and perceived family impact during the autism spectrum disorder diagnostic process among an ethnically and racially diverse low-income, urban sample, allowing for comparisons between Hispanic and non-Hispanic families. Hispanic families reported lower levels of parenting stress (χ2 = 5.35(1), p = 0.021), avoidant (χ2 = 9.66(1), p = 0.002) and approach (χ2 = 8.61(1), p = 0.003) coping, and negative family impact (χ2 = 5.39(1), p = 0.020) across time (main effects) compared with non-Hispanic families. Furthermore, there were differences in the change in use (Time Period × Ethnicity interaction effects) of both avoidant (χ2 = 10.80(3), p = 0.013) and approach (χ2 = 11.57(3), p = 0.009) coping, as well as negative family impact (χ2 = 9.81(3), p = 0.020), between Hispanic and non-Hispanic parents over time. These differences begin to shed light on the unique experiences of Hispanic parents. Because of the strengths that Hispanic families demonstrate, interventions that leverage those strengths and focus on education, empowerment, and resilience might be particularly beneficial for Hispanic families and may also better inform work to increase resilience in non-Hispanic families. Lay abstract Little is known about parent experiences throughout the diagnostic process for autism or how these parent experiences may help explain the disparities that exist between Hispanic and non-Hispanic families in time-to-diagnosis among children identified as at risk for autism. The current study examined trajectories of parenting stress, coping, and perceived family impact over time, throughout the autism diagnostic process among Hispanic and non-Hispanic families. Hispanic families reported lower levels of parenting stress, coping, and negative family impact across time. Further, there were differences in the change in use of coping and the amount of negative family impact reported between Hispanic and non-Hispanic parents over time. These differences shed light on the unique experiences and strengths of Hispanic families demonstrate. Interventions that leverage those strengths and focus on education, empowerment, and resilience might be particularly beneficial for Hispanic families and may also better inform work to increase resilience.

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Bacillary Angiomatosis: A Unique Cutaneous Complication of Hiv Infection

Canadian Journal of Plastic Surgery ◽

10.1177/229255039500300201 ◽

1995 ◽

Vol 3 (2) ◽

pp. 1-10

Author(s):

Joan Lipa ◽

Walter Peters ◽

Victor Fornasier ◽

Benjamin Fisher

Keyword(s):

Hiv Infection ◽

Definitive Diagnosis ◽

Causal Organism ◽

Bacillary Angiomatosis ◽

Immunodeficiency Virus ◽

Confirmatory Tests ◽

Nodular Lesions ◽

Acquired Immunodeficiency ◽

Immunodeficiency Syndrome ◽

Erythromycin Therapy

As the prevalence of human immunodeficiency virus (HIV) infection increases, so does the recognition of unusual manifestations of this syndrome. This study describes two patients who presented with a unique, rare, cutaneous manifestion of HIV infection. One patient developed an aggressive atypical cellulitis and ascending lymphangitis of the hand, which failed to improve following multiple courses of several different antibiotics. The other patient presented with multiple, vascular, nodular lesions, clinically resembling Kaposi's sarcoma. Routine biopsies and wound cultures were not helpful for diagnosis. A definitive diagnosis of bacillary angiomatosis (BA) was made using a special silver-staining (Warthin-Starry) histological technique and electron microscopy. Both patients responded completely to oral erythromycin therapy. BA is a newly recognized bacterial infection caused by bacteria of the genus Bartonella. It is seen primarily in patients with acquired immunodeficiency syndrome (AIDS), and less commonly in patients with other immunosuppressed conditions. The term BA describes the lesion's pathogenesis (infective-bacillary) and clinico-histology (angiomatosis). The causal organism cannot be cultured reliably and is resistant to most antibiotics. This study reviews these two patients, the differential diagnosis of BA, specific confirmatory tests used in diagnosis, and the treatment outcome of this condition. It is important for the plastic surgeon to understand BA, because it can resemble other common presentations, but it can also be associated with internal involvement leading to mortality. However, when recognized, it can usually be cured by oral erythromycin therapy (500 mg qid) for several weeks.

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