Initial Diagnostic Hypothesis Research Articles

A misleading miscellanea: a COVID-19 patient with fever and cytopenia

Complex clinical cases characterized by the coexistence of multiple pathologies and, consequently, multiple signs and symptoms shared by various pathological entities can hide pitfalls that may lead to incorrect diagnostic conclusions due to cognitive biases. Here, we present the case of a man who presents hyperpyrexia, progressive pancytopenia, and splenomegaly in the context of a SARS-CoV-2-related infection; the final diagnosis will be different from the initial diagnostic hypothesis.

A case of suicide secondary to diethylene glycol intentional ingestion.

We aimed to describe a case of acute kidney injury (AKI) with an uncommon case. We described a previously health 24 years old male that presented acute kidney injury associated with neurological and respiratory symptoms. He was initially admitted at the hospital with nausea, vomiting, blurred vision, and reduced urine output. The patient's condition got worse approximately in one week. Laboratory tests revealed high levels of nitrogenous waste, hyponatremia, metabolic acidosis with an increased anion gap, and the presence of proteinuria and hematuria. The patient experienced paresthesia, seizures, respiratory alterations, and altered consciousness. The initial diagnostic hypothesis of rapidly progressive glomerulonephritis was not confirmed. A deeper investigation of the case exposed that it could have occurred an intentional exogenous poisoning with diethylene glycol (DEG). Renal biopsy unveil findings suggestive of poison-induced nephrotoxicity, which corroborated the suspicion. Despite therapeutic efforts, the patient died due to pulmonary complications. This case report shows the need to consider DEG poisoning as a etiology of AKI, especially in patients with neurological symptoms. Laboratory and histopathological analysis were crucial for the diagnosis.

Ocular metastases profile in a tertiary hospital in São Paulo, Brazil

ObjectiveOcular metastases are the most common intraocular tumours in adults. Data regarding the occurrence of these tumours in the Brazilian population is scarce. We aimed to investigate the profile of ocular metastases of patients referred to tertiary hospital service in São Paulo, Brazil.DesignRetrospective study.ParticipantsPatients referred to the Ocular Oncology service of the Federal University of São Paulo with initial diagnostic hypothesis of ocular metastasis.MethodsData was retrospectively collected from medical records from June 2017 to June 2023. Age, sex, primary tumour site, previous knowledge of the systemic diagnosis, laterality, initial visual acuity (VA), local or systemic treatment and mean follow-up period were obtained.ResultsA total of 37 cases were referred to the ocular oncology division due to a suspected ocular metastasis, 15 (40.5%) were confirmed. Mean age at diagnosis was 53.47 ± 16.01 years old, the majority (86.7%) of patients already knew the systemic diagnosis. Breast cancer (66.7%) was the most common primary site, followed by Lung cancer (26.7%). Both eyes were affected in 66.67% of the cases, all patients had metastases at the choroid (100.0%), and the mean initial VA was 1.37 ± 1.04 logMAR. Chemotherapy was the main systemic treatment modality (73.3%), and most patients had no ocular treatment (53.3%). The mortality rate along the follow-up period was 30.0%.ConclusionsConsidering the number of new patients absorbed by the Ocular Oncology service over the study period, the frequency of ocular metastases was relatively low. The patients’ characteristics was comparable to data published in the international literature.

Late Onset Bipolar Disorder (LOBD): a case report

Introduction Bipolar disorder (BD) in the elderly patient may present as the evolution of illness initiated earlier in life or as a new-onset entity. Therefore, two groups of patients are distinguished: “late onset” (LOBD) when the first mania occurs in old age and “early onset” in elderly patients with long-standing history. BD in elderly patients (≥60 years) constitutes 25% of all BD cases. Specific aspects of older age bipolar disorder (OABD) are somatic and psychiatric comorbidity, impaired cognition and age-related psychosocial functioning. The management of BD in the elderly is complex given the high sensitivity of these patients to pharmacological side effects, particularly of psychotropic drugs.ObjectivesThe case of a patient with LOBD is presented, followed by a theoretical review of the subject.MethodsA case is presented with a bibliographic review.Results A 76-year-old woman who had no prior history of mental health issues until March 2023 when she was initially admitted to a geriatric hospitalization unit for manifesting manic symptoms. She was readmitted in July 2023 due to worsening depressive symptoms that included a declining mood, passive thoughts of death, deterioration in self-care, weight loss, insomnia, constipation, and dry mouth despite recent changes in her medications. She was on treatment with escitalopram (which was gradually discontinued and replaced with mirtazapine), quetiapine, lormetazepam, and lorazepam. Imaging tests showed chronic ischemic lesions in her brain and a small meningioma, the rest of the test were normal.The initial diagnostic hypothesis was a bipolar depressive episode, and her treatment was adjusted accordingly. She was started on lithium, and her quetiapine dosage was increased, along with the anxiolytic lorazepam. Due to the persistence of depressive symptoms, including low mood, anhedonia, apathy, and negative thoughts, she was also prescribed antidepressant medication (venlafaxine and mirtazapine). Her condition gradually improved, with better eating and sleep patterns, increased participation in activities, and reduced somatic complaints and anxiety.As she continued to experience somnolence and decreased morning energy, her antipsychotic medication was switched from quetiapine to lurasidone. The dose of lithium was decreased due to tremors in her extremities, although they remained within the therapeutic range. Despite these adjustments, her mood significantly improved, and she showed no signs of worsening or psychotic symptoms, leading to her discharge.ConclusionsSummarizing different studies, LOBD who develop mania for the first time at an advanced age (≥ 50 years) constitute 5-10% of all BD. It is important to perform a thorough differential diagnosis, as an organic substrate and diverse etiologies may be present. Current guidelines recommend that first-line treatment of OABD should be similar to that of BD in young patients, with careful use of psychotropic drugs.Disclosure of InterestNone Declared

Schwannoma of Facial Region: A Pathology Often Missed in the Initial Diagnostic Hypothesis: A Case Report

Schwannoma, also known as neurilemmoma, is a benign tumor originating from Schwann cells and may involve any nerve in the body but its most common occurrence is in the head and neck region. When it involves a nerve of face, it is often confused with dermoid cyst. We present the case of a 23-year-old male patient with Schwannoma arising from the area just below the lateral canthus of the left eye where the initial diagnostic hypothesis was dermoid cyst but later confirmed as Schwannoma on histopathological analysis.

Holistically bridging the gap between education and healthcare: A case study model of assessment

AbstractIn today's special educational needs and disability system, children spend an incomprehensible amount of time on waiting lists to see specialists, and teachers and parents spend an inordinate amount of time trying to target support when a child's needs are unidentified and unclear. This case study looks at the current pathway to support for children with neurodiversities in UK mainstream schools, considering in detail the role of the professionals around the child, in particular the SENCo. In this case study, three children are discussed; in these cases, an additional layer of assessment was included in the referral system, using Frith's causal modelling. This resulted in a more accurate and timely diagnosis of neurodiversities, whether singular or co‐occurring, in each case. The additional assessment level was undertaken by a developmental psychologist (DP) who acted as a catalyst for the assessment process and an advisor to target intervention. Following a holistic assessment by the DP, one child was diagnosed with autism on the NHS within three months of the assessment, one child was diagnosed with attention deficit/hyperactivity disorder on the NHS within six months of the assessment, and one child had a dual diagnosis of dyslexia and dyspraxia. Moreover, importantly, only one child's outcomes matched the SENCo's initial diagnostic hypothesis. Two possible, and probably controversial, assessment models are proposed, that take the guesswork out of the referral process for the SENCo, saving time and money across all sectors, while considering a child's needs holistically and wholly.

Choroidal melanoma tumor profile and treatment pattern for newly diagnosed patients at a reference public hospital in Sao Paulo, Brazil

BackgroundChoroid, ciliary body, and iris melanomas are often grouped as uveal melanoma, the most common intraocular primary malignancy. The purpose of the current study was to analyze the tumor profile of newly diagnosed cases of choroidal melanoma at a reference center in Sao Paulo, Brazil, and to investigate the frequency of eyes treated by enucleation that could have been treated with brachytherapy if available in the service.MethodsMedical records of patients referred to our service with initial diagnostic hypothesis of choroidal melanoma from July 2014 to June 2020 were analysed on demographics, diagnosis confirmation, tumor measurement by ultrasonography and established treatment. Data were evaluated on clinical and demographic characteristics as age, sex, affected eye, ultrasound parameters, and treatment management of patients with clinically diagnosed choroidal melanoma. Among the patients submitted to enucleation, we investigated how many could have been selected to receive brachytherapy.ResultsFrom the 102 patients referred with the choroidal melanoma diagnosis hypothesis, 70 (68.62%) were confirmed. Mean measurements from the tumors in millimetres were: 9.19 ± 3.69 at height and 12.97 ± 3.09 by 13.30 ± 3.30 at basal. A total of 48 cases (68.57%) were enucleated, 8 (11.43%) were treated by brachytherapy in a different service, and 14 patients (20.00%) returned for enucleation at their original referral center. Out of the 48 patients enucleated, 26 (54.17%) could have been selected to brachytherapy treatment.ConclusionsThe results indicate a late diagnosis of choroidal melanoma cases referred to our service. Most enucleated cases could have been treated with brachytherapy if it was broadly available at the national public health insurance. Further public health political efforts should focus on early diagnosis and better quality of life post-treatment for oncologic patients.

Diagnosis and management of small bowel neuroendocrine tumors: A state-of-the-art.

This review provides an update on the epidemiology, pathophysiology, symptoms, diagnosis and treatment of neuroendocrine neoplasms (NENs) of the small bowel (SB). These NENs are defined as a group of neoplasms deriving from neuroendocrine cells. NENs are currently the most common primary tumors of the SB, mainly involving the ileum, making the SB the most frequently affected part of the gastrointestinal tract. SB NENs by definition are located between the ligament of Treitz and the ileocecal valve. They are characterized by small size and induce an extensive fibrotic reaction in the small intestine including the mesentery, resulting in narrowing or twisting of the intestine. Clinical manifestations of bowel functionality are related to the precise location of the primary tumor. The majority of them are non-functional NENs and generally asymptomatic; in an advanced stage, NENs present symptoms of mass effect by non-specific abdominal pain or carcinoid syndrome which appears in patients with liver metastasis (around 10%). The main manifestations of the carcinoid syndrome are facial flushing (94%), diarrhea (78%), abdominal cramps (50%), heart valve disease (50%), telangiectasia (25%), wheezing (15%) and edema (19%). Diagnosis is made by imaging or biochemical tests, and the order of request will depend on the initial diagnostic hypothesis, while confirmation will always be histological. All patients with a localized SB NEN with or without near metastasis in the mesentery are recommended for curative resection. Locoregional and distant spread may be susceptible to several therapeutic strategies, such as chemotherapy, somatostatin analogs and palliative resection.

Yellow Nail Syndrome and Associated Internal Disturbances

Nail changes detected during the general physical examination can contribute to establishing an initial diagnostic hypothesis and may enhance the awareness of some associated internal disorders. In approximately half of the cases, the changes are detected without being a present complaint. The main causes are dermatological diseases, infections, trauma, drug-related, and genetic entities. Yellow nail syndrome includes lung disorder, pleural effusion, and lymphedema of lower limbs; renal failure, hypothyroidism, malignant tumor, Saint’s triad, and pericarditis are related. The aim of the comments is to emphasize the role of nails evaluation to yield diagnostic clues.

Simple Schizophrenia or Neurotic Disorder? Case report

IntroductionThe diagnosis of simple schizophrenia remains an unusual and controversial diagnosis today. The presentation of nonspecific symptoms shared by other nosological entities make differential diagnosis a challenge.ObjectivesThe main objective of this case report is to review the diagnosis of simple schizophrenia and its differential diagnosis.MethodsCase report and literature review. We present the case of a 52-year-old man who was admitted to a medium stay unit for psychosocial rehabilitation with the diagnosis of simple schizophrenia after his debut at 49 years of age with clinical manifestations of progressive self-care abandonment and personality change.ResultsGiven the psychosocial deterioration observed and lack of response to pharmacological and psychotherapeutic treatments, the possible diagnoses of dementia praecox and simple schizophrenia were considered. Several individual and family interviews, neuropsychological and projective tests (HTP test, figure 1-3) were performed in order to define the diagnosis. The results revealed age-appropriate cognitive functioning and the absence of data suggestive of an underlying psychotic disorder. On the other hand, it was observed that the patient was able to establish some social relationships and participate in group activities in the medium stay unit. These findings suggest the influence of factors related to the socio-familial environment and cast doubt on the initial diagnostic hypothesis.ConclusionsThe diagnosis of simple schizophrenia continues to present itself as a complex diagnosis that requires a careful review of the differential diagnosis.DisclosureNo significant relationships.

Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus.

SummaryWe describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22−).Learning pointsPatients with an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy.Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay.Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus.Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations.Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence in situ hybridization can help diagnose genetic syndromes in patients with atypical evolution.

The accuracy of initial diagnoses in coma: an observational study in 835 patients with non-traumatic disorder of consciousness

BackgroundManagement of patients with coma of unknown etiology (CUE) is a major challenge in most emergency departments (EDs). CUE is associated with a high mortality and a wide variety of pathologies that require differential therapies. A suspected diagnosis issued by pre-hospital emergency care providers often drives the first approach to these patients. We aim to determine the accuracy and value of the initial diagnostic hypothesis in patients with CUE.MethodsConsecutive ED patients presenting with CUE were prospectively enrolled. We obtained the suspected diagnoses or working hypotheses from standardized reports given by prehospital emergency care providers, both paramedics and emergency physicians. Suspected and final diagnoses were classified into I) acute primary brain lesions, II) primary brain pathologies without acute lesions and III) pathologies that affected the brain secondarily. We compared suspected and final diagnosis with percent agreement and Cohen’s Kappa including sub-group analyses for paramedics and physicians. Furthermore, we tested the value of suspected and final diagnoses as predictors for mortality with binary logistic regression models.ResultsOverall, suspected and final diagnoses matched in 62% of 835 enrolled patients. Cohen’s Kappa showed a value of κ = .415 (95% CI .361–.469, p < .005). There was no relevant difference in diagnostic accuracy between paramedics and physicians. Suspected diagnoses did not significantly interact with in-hospital mortality (e.g., suspected class I: OR .982, 95% CI .518–1.836) while final diagnoses interacted strongly (e.g., final class I: OR 5.425, 95% CI 3.409–8.633).ConclusionIn cases of CUE, the suspected diagnosis is unreliable, regardless of different pre-hospital care providers’ qualifications. It is not an appropriate decision-making tool as it neither sufficiently predicts the final diagnosis nor detects the especially critical comatose patient. To avoid the risk of mistriage and unnecessarily delayed therapy, we advocate for a standardized diagnostic work-up for all CUE patients that should be triggered by the emergency symptom alone and not by any suspected diagnosis.

Клинико-лучевые и морфологические особенности COVID-19 ассоциированной пневмонии в динамике заболевания

War has been declared to mankind, the initiator and enemy of which has become a new disease caused by the coronavirus (SARS Cov-2 RNA). Victory in this war, that is, the survival and recovery of each patient depends on the solution of many scientific, technical, organizational and clinical problems, in particular, a more optimal understanding of the morphological and clinical-radiation picture of this disease. The initial diagnostic hypothesis for COVID-19 is based on an influenza-like condition and molecular tests such as polymerase chain reaction (RT-PCR) sequencing. However, these tests can be false positive or false negative (up to 30 %) and are not available in emergency situations. Therefore, clinical symptoms in the context of radiological and morphological diagnostics are used as an important marker for identifying the etiology of COVID-19 associated pneumonia in the current epidemiological conditions.

Bone involvement in Gaucher disease type 1: a differential diagnosis of multiple fractures in a young patient. Case report

Gaucher disease type 1 (GD1) is a rare inherited disease caused by mutations in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase, leading to decreased enzyme activity and the consequential accumulation of its substrate, glucosylceramide, within macrophages. Bone involvement in GD1 may include avascular necrosis, bone infarcts, fragility fractures, lytic or sclerotic bone lesions and osteomyelitis. Bone pain can manifest as an acute and very painful bone crisis or a chronic pain that might vary in intensity, usually caused by fractures or avascular necrosis with progressive collapse of bone and joints. Hence, this report aims to describe a case of Gaucher disease type 1 and discuss its diagnosis, bone involvement and management, since late diagnosis or inadequate therapy can lead to clinical worsening, irreversible mobility impairment and increased morbidity. AGR, a 32-year-old male patient, was admitted to the Rheumatology Service with a previous history of diffuse bone pain, episodic hyperemia in the lower limbs since the age of 9 and two low-impact fractures. He had an initial non-confirmed diagnostic hypothesis of chronic recurrent multifocal osteomyelitis and was taking dipyrone and tramadol to reduce pain. His physical examination evinced overweight (body mass index: 29.7 kg/m2) and hepatosplenomegaly. Laboratory tests shown thrombocytopenia, with platelet count 103,000/mm3 (reference value [RV]: 140,000-450,000/mm3), serum phosphorus 4.7 mg/dL (RV: 2.7-4.5 mg/dL), C-reactive protein 88.8 mg/dL (RV: &lt; 5 mg/dL) and ferritin 1336 ng/mL (RV: 30-400 ng/mL). Biochemical and bone turnover markers were normal, including serum total calcium and magnesium, parathyroid hormone, 25-OH vitamin D, alkaline phosphatase, procollagen type-I N-terminal propeptide and C-terminal telopeptide of type I collagen. Conventional radiographies and magnetic resonance imaging were performed and confirmed previous fractures in the right humerus and the right acetabulum. They also showed sclerotic lesions in the left femur and Erlenmeyer flask deformities in the distal femurs and the proximal tibias. Bone scintigraphy indicated a bone infarct area in the left tibia. Areal bone mineral density (BMD) evaluated by bone densitometry showed a left total femur Z-score of +4.3 and left femoral neck Z-score of +4.5. Differently, the bone microarchitecture and volumetric BMD, evaluated by a high-resolution peripheral quantitative computed tomography (HR-pQCT) at distal radius and distal tibia, demonstrated an impairment of cortical compartment with lower cortical thickness and lower cortical volumetric BMD, possibly contributing to the low-impact fractures. Considering the compatible radiological findings, associated with hepatosplenomegaly and thrombocytopenia, Gaucher disease type 1 became the major hypothesis. It was confirmed after enzymatic dosage, which showed low residual glucocerebrosidase activity and high serum chitotriosidase. Enzyme replacement therapy was started with taliglucerase alfa, a recombinant enzyme preparation that aims to supply the lacking glucocerebrosidase in lysosomes. After 6 months of treatment, patient reported a significant improvement in bone pain and general quality of life. Therefore, clinicians should be alert to young patients with multiple low-impact fractures and further evaluate other possible bone involvement, as GD1 may be a differential diagnosis. Since it needs specific treatment, early diagnosis can be crucial to avoid permanent bone damage and morbidity.

SUBMANDIBULAR SCHWANNOMA: A CASE REPORT

Schwannoma, also known as neurilemoma, is a benign neoplasm derived from Schwann cells, most commonly found in soft tissues and is slow-growing. The objective of the present study was to report the case of a schwannoma in the submandibular region of a 50-year-old female leucoderm patient without comorbidities who arrived at the maxillofacial surgery service presenting an increase in single tumor volume in the submandibular region with an evolution of about 1 year, painless palpation, softened appearance, and smooth surface. At tomographic examination, a mass measuring 36 × 23 mm was observed, well circumscribed with heterogeneous density in close contact with the left submandibular gland. Because of the clinical observation, the initial diagnostic hypothesis was pleomorphic adenoma. Fine needle cytology and punch cytology were performed for the definitive diagnosis, revealing it to be schwannoma. An excisional biopsy was performed under general anesthesia, with preservation of the submandibular gland, confirming initial hypothesis. The patient is being followed up. Schwannoma, also known as neurilemoma, is a benign neoplasm derived from Schwann cells, most commonly found in soft tissues and is slow-growing. The objective of the present study was to report the case of a schwannoma in the submandibular region of a 50-year-old female leucoderm patient without comorbidities who arrived at the maxillofacial surgery service presenting an increase in single tumor volume in the submandibular region with an evolution of about 1 year, painless palpation, softened appearance, and smooth surface. At tomographic examination, a mass measuring 36 × 23 mm was observed, well circumscribed with heterogeneous density in close contact with the left submandibular gland. Because of the clinical observation, the initial diagnostic hypothesis was pleomorphic adenoma. Fine needle cytology and punch cytology were performed for the definitive diagnosis, revealing it to be schwannoma. An excisional biopsy was performed under general anesthesia, with preservation of the submandibular gland, confirming initial hypothesis. The patient is being followed up.

PROLIFERATIVE VERRUCOUS LEUKOPLAKIA: A CASE REPORT

Proliferative verrucous leukoplakia (LVP) is a rare type of oral leukoplakia with slow growth and high potential for malignancy, with female predilection in the sixth decade of life. The aim of this report is to describe the clinical and histopathologic findings of a case of LVP. A 52-year-old male patient, an alcoholic since 12 years old, sought the health service because of an asymptomatic lesion with a 1-year evolution. The intraoral examination revealed multiple bilateral whitish plates with clear borders and verrucous surface located in jugal mucosa and labial commissure. The initial diagnostic hypothesis was verrucous carcinoma. An incisional biopsy was performed, and the histologic slices revealed fragments of mucosa coated by hyperkeratinized squamous epithelium with a verrucous surface corresponding to LVP. The patient is stable and under follow-up. The importance of early diagnosis and routine follow-up of patients because of the high rates of malignant transformation is emphasized.

Bipartição gástrica para tratamento paliativo de câncer de estômago avançado

Introdução: O Câncer Gástrico (CG) é o quarto câncer mais comumente diagnosticado e a segunda principal causa de morte por câncer em todo o mundo. A sobrevida mediana raramente ultrapassa os 12 meses e, na forma metastática, a sobrevida de 5 anos é inferior a 10%. A maioria dos pacientes apresenta-se em estágios avançados da doença, frequentemente com tumores distais obstrutivos e irressecáveis, demandando tratamento paliativo, cujo objetivo é dar ao doente maior qualidade de vida. Relato do caso: Paciente, sexo masculino, 59 anos, aposentado, tabagista e etilista. Procurou Serviço de Pronto Atendimento com queixa de vômitos pós-prandiais, associados a dor abdominal epigástrica e perda de aproximadamente 8kg nos últimos 20 dias. Ao exame físico, foi identificada massa palpável em regiões de epigastro e mesogastro, dolorosa e de consistência sólida. Paciente teve como hipótese diagnóstica inicial Síndrome Pilórica secundária a neoplasia. A tomografia de abdome mostrou presença de um processo expansivo sólido, de aspecto infiltrativo, envolvendo a parede gástrica, na região do antro, inclusive promovendo sinais de estase líquida. Nódulo heterogêneo, entrando em contiguidade com a veia cava inferior, chegando a medir cerca de 1,1x0,9 cm, em seus maiores diâmetros. Diante do diagnóstico de adenocarcinoma gástrico avançado, com invasão de veia cava inferior, pâncreas e metástase hepática, sem proposta cirúrgica ou oncológica curativa, foi optado por nutrir o paciente de forma parenteral. A equipe cirúrgica optou pela cirurgia de bipartição gástrica com gastrojejuno anastomose, sob a técnica aberta, com duração aproximada de 90 minutos. Paciente recebeu alta hospitalar no quarto DPO, em boas condições clínicas, boa aceitação de dieta via oral, sem náuseas ou vômitos. Paciente veio a falecer 16 meses após a cirurgia devido a hemorragia digestiva alta secundária ao tumor avançado e sepse. Conclusão: a técnica da bipartição pode ser considerada uma técnica efetiva e segura, proporcionando um menor número de sintomas como náusea e vômitos, manutenção de dieta via oral e qualidade de vida para os pacientes sem proposta curativa.

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

The application of next-generation sequencing to fetal pathology has proved to increase the diagnostic yield in fetuses with abnormal ultrasounds. We retrospectively reviewed genetic data of 30 selected cases studied through targeted resequencing of OMIM genes. In our experience, clinical data proved to be essential to support diagnostic reasoning and enhance variants' assessment. The molecular diagnosis was reached in 19/30 (63%) cases. Only in 7/19 cases the molecular diagnosis confirmed the initial diagnostic hypothesis, showing the relevance of the genotype-first approach. According to the genotype-phenotype correlation, we were able to divide the solved cases into three groups: i) the correlation is well established but it was missed due to lack of specificity, unusual presentation or recent description; ii) the clinical presentation is much more severe than currently known for the underlying condition; iii) the correlation does not recapitulate the entire phenotype, possibly due to the fetal presentation or multiple coexisting conditions. Moreover, we found a higher proportion of recessive diagnosis in abnormal fetuses compared to cohorts of individuals with developmental delay. Our findings suggest that fetal pathology may be enriched in rare alleles and/or in unusual combinations, counter-selected in postnatal genomes and thus contributing to both phenotypic extremeness and atypical presentation.

Think Twice: Effects on Diagnostic Accuracy of Returning to the Case to Reflect Upon the Initial Diagnosis.

Diagnostic errors have been attributed to failure to sufficiently reflect on initial diagnoses. However, evidence of the benefits of reflection is conflicting. This study examined whether reflection upon initial diagnoses on difficult cases improved diagnostic accuracy and whether reflection triggered by confrontation with case evidence was more beneficial than simply revising initial diagnoses. Participants were physicians in Bern, Switzerland, registered for the 2018 Swiss internal medicine certification exam. They diagnosed written clinical cases, providing an initial diagnosis by following the same instructions and returning to the case to provide a final diagnosis. The latter required different types of reflection depending on the physician's experimental condition: return without instructions, identify confirmatory evidence, identify contradictory evidence, or identify both confirmatory and contradictory evidence. The authors examined diagnostic accuracy scores (range 0-1) as a function of diagnostic phase and reflection type. One hundred and sixty-seven physicians participated. Diagnostic accuracy scores did not significantly differ between the 4 groups of physicians in the initial (I) or the final (F) diagnostic phase (mean [95% CI]: return without instructions, I: 0.21 [0.17, 0.26], F: 0.23 [0.18, 0.28]; confirmatory evidence, I: 0.24 [0.19, 0.29], F: 0.31 [0.25, 0.37]; contradictory evidence, I: 0.22 [0.17, 0.26], F: 0.26 [0.22, 0.30]; confirmatory and contradictory evidence, I: 0.19 [0.15, 0.23], F: 0.25 [0.20, 0.31]). Regardless of type of reflection employed while revising the case, accuracy increased significantly between initial and final diagnosis, I: 0.22 (0.19, 0.24) vs F: 0.26 (0.24, 0.29); P < .001. Physicians' diagnostic accuracy improved after reflecting upon initial diagnoses provided for difficult cases, independently of the evidence searched for while reflecting. The findings support the importance attributed to reflection in clinical teaching. Future research should investigate whether revising the case can become more beneficial by triggering additional reflection.

Point-of-care ultrasound (POCUS) in a remote area of Sierra Leone: impact on patient management and training program for community health officers.

Point-of-care ultrasound (POCUS) has been shown to have unique potential in low-income countries. Physicians and other healthcare providers can perform effective scans after a short period of training. This study aimed to evaluate indications and utility of ultrasonography as the main imaging service in a poor rural sub-Saharan region of Africa. Second, it evaluated the effect of a short training on POCUS for non-physician health providers and their agreement with a group of Italian physicians. This study was undertaken in Lokomasama-a chiefdom of Sierra Leone-between January and February 2019. Based on clinical indications, ultrasound findings were evaluated with respect to the initial diagnostic hypothesis. Volunteer doctors conducted a theoretical-practical training of two community health officers (CHO) on chest and abdominal POCUS and E-FAST protocol. The evaluation of the achieved technical skills was obtained with a numeric score. Inter-observer agreement concerning ultrasound diagnosis based on clinical indications was assessed. A total of 196 consecutive patients underwent ultrasound examination. POCUS findings were in keeping with the clinical diagnosis in the 49.5%. POCUS changed the initial diagnosis in 17% of cases. After training, E-FAST and POCUS knowledge score was 90% and 83%, respectively. An excellent inter-observer agreement (0.88) was found between CHOs and physicians. POCUS represents a powerful diagnostic tool in a low-income country that may improve the patient management. Training of non-physician health providers is doable and may improve healthcare management in resource-limited settings.