correct diagnosis
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Author(s):  
Yashaswini Kunjali Ajeeth Kumar ◽  
Adithya Kishore Saxena

In the present state of health and wellness, mental illness is always deemed less importance compared to other forms of physical illness. In reality, mental illness causes serious multi-dimensional adverse effect to the subject with respect to personal life, social life, as well as financial stability. In the area of mental illness, bipolar disorder is one of the most prominent type which can be triggered by any external stimulation to the subject suffering from this illness. There diagnosis as well as treatment process of bipolar disorder is very much different from other form of illness where the first step of impediment is the correct diagnosis itself. According to the standard body, there are classification of discrete forms of bipolar disorder viz. type-I, type-II, and cyclothymic. Which is characterized by specific mood associated with depression and mania. However, there is no study associated with mixed-mood episode detection which is characterized by combination of various symptoms of bipolar disorder in random, unpredictable, and uncertain manner. Hence, the model contributes to obtain granular information with dynamics of mood transition. The simulated outcome of the proposed system in MATLAB shows that resulting model is capable enough for detection of mixed mood episode precisely


2022 ◽  
Vol 46 (1) ◽  
Author(s):  
Min Zhao

Abstract Background Papillary oral pathologies are a heterogenous group. Both virus-associated and non-virus-associated, malignant and benign entities may enter the differential diagnosis. In some cases, oral papillary lesions are part of a variety of skin or systemic disorders and syndromes. It is a challenge for clinicians to identify and treat the various etiology of oral papillary lesions. Case presentation This case report describes the successful management of large multiple oral papillary lesions in a 65-year-old female. Combined the clinical features, pathological findings and medical history, the patient was tended to be the diagnosis of Acanthosis Nigricans and was successfully managed. The neuro-endocrine-immune network and mechanical factors in the pathogenesis of oral papillary lesions of Acanthosis Nigricans were discussed. Common questions regarding differential diagnosis, the management of oral papillary lesions of Acanthosis Nigricans patients and follow-up visits are addressed. Conclusions The neuro-endocrine-immune network and mechanical factors play important roles in the pathogenesis of oral papillary lesions with Acanthosis Nigricans. Removing traumatic factors of oral mucosa and the treatment of underlying systemic diseases is necessary for Acanthosis Nigricans patients with oral papillary lesions. The clinical management plan should comprise both the local treatments of oral papillary lesions and the systemic treatment of underlying diseases. Multidisciplinary correlation is helpful and the patient’s collaboration is necessary to arrive at the correct diagnosis and successful long-term treatment effect. From the clinician’s perspective, recognizing various causes and clinical presentations of oral papillary lesions will help guide management.


2022 ◽  
Vol 9 ◽  
Author(s):  
Andrea Accogli ◽  
Ana Filipa Geraldo ◽  
Gianluca Piccolo ◽  
Antonella Riva ◽  
Marcello Scala ◽  
...  

Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD—“clinically relevant” megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.


2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Jiangli Lu ◽  
Ming Zhao ◽  
Chenyan Wu ◽  
Chengbiao Chu ◽  
Chris Zhiyi Zhang ◽  
...  

Abstract Background UPK2 exhibits excellent specificity for urothelial carcinoma (UC). UPK2 evaluation can be useful in making the correct diagnosis of UC. However, UPK2 detection by immunohistochemistry (IHC) has relatively low sensitivity. This paper aimed to compare the diagnostic sensitivity of RNAscope and IHC for evaluation of the UPK2 status in UC. Methods Tissue blocks from 127 conventional bladder UCs, 45 variant bladder UCs, 24 upper tract UCs and 23 metastatic UCs were selected for this study. IHC and RNAscope were used to detect the UPK2 status in UCs. Then, comparisons of the two methods were undertaken. Results There was no significant difference between RNAscope and IHC for the evaluation of the UPK2 positivity rate in UC (68.0% vs. 62.6%, P = 0.141). Correlation analysis revealed a moderate positive correlation for detection of UPK2: RNAscope vs. IHC (P < 0.001, R = 0.441). Our results showed a trend toward a higher positive UPK2 rate detected by RNAscope (53.3%) than by IHC (35.6%) in variant bladder UCs. Disappointingly, the P value did not indicate a significant difference (P = 0.057). Conclusions RNAscope for UPK2 appeared to perform similarly to IHC, with a marginally higher positive rate, suggesting it could be used as an alternative or adjunct to UPK2 IHC.


2022 ◽  
Vol 8 ◽  
Author(s):  
Alena S. Limonova ◽  
Alexandra I. Ershova ◽  
Alexey N. Meshkov ◽  
Anna V. Kiseleva ◽  
Mikhail G. Divashuk ◽  
...  

We reported a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations. Our patient was initially referred to the lipid clinic due to high cholesterol levels and premature cardiovascular disease. Diagnosis of familial hypercholesterolemia was established in accordance with the Dutch Lipid Clinic Network criteria. Next-generation sequencing was later performed, which revealed a nonsense mutation in the ABCG8 gene, which led to the diagnosis of sitosterolemia. The aim of our report is to demonstrate, how genetic testing helped to make the correct diagnosis and to explain many of the patient's health problems, which etiology remained unclear for many years.


2022 ◽  
Author(s):  
Binod Shrestha ◽  
Dan Green ◽  
Manish Baidya ◽  
Tim Chater ◽  
Jiban Karki ◽  
...  

Abstract Background: Large inequalities in child health remain in Nepal, with caste, ethnicity and sex being major determinants of deprivation and negative outcomes. The purpose of this study was to explore whether key demographics on under 5s were associated with health seeking behaviours, utilisation of health care, and treatment received.Methods: Data came from Integrated Management of Neonatal & Childhood Illness (IMNCI) records of 23 health centres across five districts. After digitising the paper records, district, ethnicity, sex, age and temperature of the child were used to predict the number of days taken to seek medical care for Acute Respiratory Infection (ARI), diarrhoea and fever. In addition to this, correct diagnosis and subsequent treatment of pneumonia was assessed against IMNCI guidelines, again using the demographic factors of interest to predict these outcomes.Results: From 116 register books spanning 23 health centres, 33,860 child patient records were considered for analysis. The median age of attendance was 16 months (Inter-Quartile Range= 9, 30), while there were more male children that attended (55.8% vs. 44.2% for females). There were statistically significant differences for the time taken to attend a health centre between different districts for ARI, diarrhoea and fever, with children in the remote Humla and Mugu districts taking significantly longer to present at a health facility after the onset of symptoms (all p<0.012). Children from underprivileged ethnic groups, Madhesi and Dalit, were less likely to be given a correct diagnosis of pneumonia (p=0.001), while males were more likely to receive a correct diagnosis than females (73% vs. 67%, p=0.001). This sex difference remained in the adjusted regression models for diagnosis of pneumonia (p=0.011) but not for treatment of pneumonia (p=0.202).Conclusions: Significant demographic differences were found based on ethnicity, sex, and district when examining health seeking behaviours for ARI, diarrhoea, and fever. Significant associations were seen for these same factors when exploring accuracy of diagnoses of pneumonia, but not for treatment. This study has emphasised the importance of a digitalised healthcare system, where inequalities can be identified without the reliance on anecdotal evidence.


2022 ◽  
Vol 8 ◽  
Author(s):  
Bipin P. Kulkarni ◽  
Kirti Ghargi ◽  
Chandrakala Shanmukhaiah ◽  
Shrimati D. Shetty

Introduction: Type 3 Von Willebrand Disease (VWD) is the least common but the most severe form of a disease, with a prevalence of about 0. 5 to 1 per million in Western countries. The prevalence of type 3 VWD in the developing countries, with a high degree of consanguinity, is about 6 per million. Moreover, due to underdiagnosis of the milder cases, the prevalence of type 3 VWD is about 50% of the cases. Rarely, some patients develop the Von Willebrand Factor (VWF) inhibitors, which may subsequently develop severe anaphylactic reactions on further exposure to the VWF containing factor replacement therapy. The prevalence of inhibitor development in patients with type 3 VWD has been shown to be in the range of 5.8 to 9.5%. In the absence of a gold standard assay for the quantitation of VWF inhibitors, a correct diagnosis and management of these patients are often challenging.Objectives: The objective of this study is to standardize the Bethesda assay for the VWF inhibitors and to estimate the VWD inhibitor titer in two cases of congenital type 3 VWD, which developed the VWF inhibitors.Results and Conclusions: We could successfully standardize the Bethesda assay for the quantitation of VWF inhibitors in two patients with congenital type 3 VWD with inhibitors.


This study traces the earliest cases of blastomycosis reported from India. Four authentic cases of blastomycosis from India including one each from Arunachal Pradesh, Himachal Pradesh, Kerala, and one each from Bangladesh and Nepal, and five misdiagnosed cases have been reported in India after 2013. The clinical and diagnostic features of all cases are reviewed. The authentic cases from India originate from widespread locations in the country. The incidence of blastomycosis in dogs is known to be eight to ten times higher than that in humans. There is only one case of canine blastomycosis from India manifesting as a fatal pulmonary infection in a Mongrel dog. It is suggested additional canine cases should be looked for in different parts of India to facilitate the detection of endemic foci of B. dermatitidis for human and animal infections in the country. Mycological investigation of cases of pulmonary tuberculosis negative for culture and AFBs mear, and not responding to anti-tubercular therapy may reveal some cases of blastomycosis. A recently developed real-time PCR for identification of B. dermatitidis in culture and tissue may facilitate correct diagnosis of blastomycosis in suspected cases. Antigen testing in urine or serum is also recommended for diagnosing clinical infection and monitoring antifungal therapy in blastomycosis.


2022 ◽  
Vol 54 (4) ◽  
pp. 370-372
Author(s):  
Intisar Ahmed ◽  
Hunaina Shahab ◽  
Aamir Hameed Khan

A 77 -year-old lady with history of hypertension and Parkinson`s disease was admitted with cough and fever and diagnosed as pneumonia. On second day of admission, she started having chest pain, initial ECG was interpreted as atrial flutter. When her ECG was reviewed by a cardiologist, ECG features were found to be consistent with artifacts due to tremors. A repeat 12 leads ECG clearly demonstrated normal sinus rhythm and the patient remained completely asymptomatic throughout the hospital stay. Tremor induced artifacts can be mistaken for arrhythmias. Correct diagnosis is important, in order to avoid inappropriate treatment and unnecessary interventions.


2022 ◽  
pp. 150-155
Author(s):  
A. K. Ovsyannikova ◽  
R. B. Galenok ◽  
O. B. Rymar

In the clinical practice of an endocrinologist, verification of the type of diabetes mellitus (DM) in young people is of high clinical significance, since the prescription of treatment depends on this: from the correction of carbohydrate metabolism by a balanced diet to the prescription of oral hypoglycemic drugs and insulin therapy. In rare forms of diabetes mellitus, which include «latent autoimmune diabetes in adults» (LADA), it is not always possible to make a correct diagnosis. This form of diabetes mellitus occupies an intermediate position between type 1 diabetes mellitus and type 2 diabetes mellitus (DM 1 and DM 2) and is often not detected. In this regard, the study of the LADA flow is of great practical importance. Verification of the LADA diagnosis is based on three clinical criteria: adult onset of diabetes; the presence of circulating islet autoantibodies, which distinguishes LADA from T2DM; the absence of an absolute need for insulin when making a diagnosis, which distinguishes LADA from the classic type 1 diabetes mellitus. The main treatment tactics for patients with LADA should be aimed at preserving their own insulin secretion. This requires the timely appointment of insulin therapy. The question of the possibility of using drugs of peripheral action – biguanides and glitazones, which do not cause depletion of β-cells, is discussed, but their effectiveness has not yet been established. The appointment of any secretogens, including sulfonylurea preparations, is contraindicated Quite often, LADA is difficult to diagnose, and the wrong treatment tactics are prescribed. At the moment, there is little data on the effectiveness of different classes of drugs, which leads to further detailed study of this type of diabetes. Currently, there are no special algorithms for LADA treatment


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