diagnosis

Cancer is a major public health issue and the main cause of death worldwide. Despite improvements in diagnostic techniques and treatment methods, cancer still seriously affects the quality of life of patients, which cause serious social and economic burdens. Therefore, there is an urgent need to identify potential biomarkers to improve diagnosis, treatment, and prognosis of cancer. BTG2 is a cell proliferation suppressor gene that serves as a tumor suppressor gene in the occurrence and development of various tumors. Many studies have shown that BTG2 can serve as a prognostic marker in various tumors. So, fully tap the potentials of BTG2 as a tumor prognostic marker will bring more possibilities to provide a new method or new diagnostic and therapeutic tool for treating cancer.

Although intussusception occurs in children and adults with celiac disease, it is a relatively uncommon symptom. Even more rare is the occurrence of intussusception as the presenting symptom of the disease. In the two cases we report here, transient intussusception, occurring at three years of age, was the first and only physical sign of celiac disease, and lead to a timely diagnosis by immunoserology and histology, followed by implementation of a gluten-free diet before sequelae such as significant anemia or Failure to Thrive (FTT) developed. In both cases, neither immunoserological nor physical signs of disease were present at the follow-up examination after 6 months on a gluten-free diet. In addition, genetic screening of the patients’ families revealed HLA-DQ2 positivity in two cases, leading to the additional diagnosis of celiac disease in the pregnant mother of one of the patients.

Urticaria corresponds to a papular edematous pruriginous fleeting rash on the skin whose cause is most often allergic (food, medicines, insect bites, etc.).Its management is often difficult because of its significant impact on quality of life. Its prevalence is estimated at 0.6% - 1.3% of the general population. Leprosy is a chronic infectious disease caused by Mycobacterium leprae (M. leprae) or Hansen’s bacillus (BH). Considered as the great simulator leprosy can pose a diagnostic problem with many other dermatological pathologies. This is a 36-year-old patient with a history of chronic urticaria treated with Loratadine 10 mg who consulted the Bamako Dermatology Hospital for a large erythematous cupboard, oedematous fixed on the buttocks evolving for more than 3 days. The interrogation found the notion of pruritus, hives, and physical examination, showed large erythematous plaques, edematous very limited, dark red color, and slightly copper resembling the closet infiltrated by leprosy. The pruriginous nature of the lesions and the absence of other cardinal signs of leprosy allowed us to make the diagnosis of chronic urticaria.

Down syndrome is a common chromosomal abnormality that affects individuals in their physical, cognitive, and social development. The diagnosis of this syndrome in a newborn can be challenging for parents as it may disrupt family dynamics. In this study, we describe the different aspects of the impact of Down syndrome on parents, including psychological, social, and familial impacts. 55 cases participated in this survey; the average age of parents was 34 years old, and mothers represented 96% of the participants. 70% of cases were from urban areas. The average time between diagnosis and parental evaluation was 32.7 months. In 57% of families, the diagnosis of Down syndrome was established only after the third month of pregnancy, and only 5% obtained it during the prenatal period. Depression was reported in 32% of mothers at the time of diagnosis, while one mother exhibited persistent denial of her child’s disability. 30% of families indicated that their child with Down syndrome was the source of tension within the couple and that learning difficulties were the main factor of tension, while 1% eventually divorced. 5% of parents regretted having a child with Down syndrome. All mothers expressed concerns about their child’s future and are in favor of the establishment of a national screening program for trisomy 21 and dedicated learning centers to ensure social and professional integration.

As a neurodegenerative disorder, Parkinson’s disease (PD) is characterized by a combination of premotor, motor, and nonmotor symptoms. PD is commonly accompanied by psychosis, which is one of the commonest symptoms in the long run. As a result of Parkinson’s disease psychosis (PDP), symptoms can range from minor consequences of the disease (illusions, passage hallucinations, and presence hallucinations), to visual and nonvisual hallucinations and delusions. PDP is associated with a reduction in function and a reduction in quality of life as well. It is commonly believed that PDP is related to economic burden, and it has a significant impact on the utilization of long-term care services. The main focus should be on diagnosing, classifying, and managing PDP in an appropriate manner. As a first step in the management of PDP patients, the emphasis should be on identifying and treating any contributing medical factors, reducing or discontinuing medications that could cause or worsen psychosis, as well as nonpharmacological strategies and considering acetylcholinesterase inhibitors for treatment when dementia is present. A number of medications are being considered for use in PDP, including pimavanserin, quetiapine, and clozapine. The purpose of the current review is to provide a comprehensive understanding of the disorder in the general population with PD, including epidemiology, psychotic symptoms, risk factors, triggers, neuro-signaling pathways, diagnosis, and treatment of PDP.

Background: Myxedema is an extreme manifestation seen in patients with untreated hypothyroidism. It is a lethal endocrine emergency, which arises when a precipitating cause overwhelms the compensatory mechanisms of the hypothyroid state.Objectives: This case report aims to present a case of myxedema coma secondary to cretinism. It also aims to discuss how hypothyroidism leads to hypoventilation and eventually respiratory failure, as well as to discuss the epidemiology, pathophysiology, clinical manifestation, diagnosis, and management of a child with myxedema coma.Case presentation: This is a case of a 7-year-old female, diagnosed with congenital hypothyroidism at 5 months of age, but eventually was lost to follow-up. She came back after 7 years presenting with difficulty of breathing. She was seen hypothermic, obtunded, and in severe respiratory distress. She was severely stunted and underweight with coarse facial features. Initial laboratory work-up showed elevated Thyroid Stimulating Hormone (TSH) as well as decreased tri-iodothyronine (FT3) and thyroxine (FT4). She was immediately started on levothyroxine, with noted resolution of the edema and improvement in sensorium. There was also noted improvement in the patient’s ventilation and was sent home on Continuous Positive Airway Pressure (CPAP) while asleep.Conclusion: This case highlights the importance of having a high index of suspicion of its clinical manifestations, which could lead to earlier intervention thereby preventing further complications. A multidimensional approach is essential in managing this case, as various organ systems are involved in this condition.

Introduction: In the present study we evaluated and compared RBC parameters, iron status, and ferritin for discriminating between patients with iron deficiency anemia and anemia of chronic disease. Anemia that accompanies infection, inflammation, and cancer, is commonly termed anemia of chronic disease (ACD). Methods: We compared the ability of serum ferritin concentration, using the microplate immunoenzymometric assay method with other, more traditional indicators of iron status like total iron binding capacity [TIBC], mean corpuscular volume [MCV], percent transferrin saturation [%TS], RBC distribution width [RDW], and serum iron concentration [SIC]. The ferritin concentration was determined in 80 serum samples selected from men and women above the age of 18 years. The patients were assigned to IDA and ACD groups based on serum ferritin concentration.Observation: By studying the ROC Curve for various red cell parameters for the diagnosis of IDA and ACD, we found that diagnostic accuracy of various indicators was as follows TIBC>TS%>MCV>MCH>SI>MCHC for anemia of chronic diseases, and TIBC>MCH>MCV>MCHC>TS%>SI for iron deficiency anemia. When both the value of AUCs (Area under Curve) of ROC were compared it is apparent that TIBC, TS%, MCV, and MCH are important discriminating factors between IDA and ACD. Conclusion: Conventional laboratory parameters play an important role in distinguishing overt causes of IDA and ACD. MCV, MCH, and TIBC were found to be (p -value < .05) significantly discriminated against IDA and ACD. Serum ferritin is an important diagnostic tool with reasonable accuracy for the detection and differentiation of iron deficiency anemia and anemia of chronic disease.

Chronic infectious, granulomatous and suppurative dermatosis, classified among the subcutaneous mycoses, prevalent in tropical and subtropical regions and caused by the traumatic implantation of dematiaceous fungal species, where the presence of muriform bodies is an expression of the causal agent in the grafted tissue, are characteristic of chromoblastomycosis. Considered the second implantation mycosis in the world, it manifests itself with slow and progressive growth lesions of exophytic and verrucous plaques and black dots on the surface.The disease is considered a neglected and occupational disease, which occurs mainly among agricultural workers, coconut and babassu harvesters, lumberjacks, and traders of agricultural products. It is important to highlight that people at risk of contracting chromoblastomycosis work in tropical countries, where the temperature can be above 40 °C in summer, and generally refuse to wear protective equipment during the day (shoes, gloves, clothes, etc.), although they know that this type of prophylactic measure can prevent different types of diseases. These vulnerable people often live in low-income countries and sometimes live far from medical services and, once infected, do not seek medical attention. We report below an exuberant and unusual case due to multiple simultaneous inoculations on the back after the patient suffered an accidental fall while working on his farm. The diagnosis was established by direct mycological examination, histopathological examination, culture, microculture, and MALDI-TOF MS analysis that identified the agent of the Fonsecaea pedrosoi.

Introduction: Myopia is a refractive disorder commonly diagnosed in childhood that follows a progressive course. It is considered a global epidemic with nearly 23% of the world’s population being diagnosed with this condition. Moreover, myopia is increasing in prevalence worldwide, demonstrated by studies in Asian and Western populations. This has important implications as myopic progression to high myopia is associated with significant morbidity and visual disability if left untreated. Of these treatments, the pharmacologic agent atropine has demonstrated the greatest efficacy in reducing myopia progression.Case report: This is a case report of an 11-year-old male treated with 0.01% atropine drops for myopia progression that developed new-onset seizures. The seizures were characterized as benign epilepsy with central temporal spikes and ceased when drops were discontinued. Discussion: Atropine 1% drops have previously been associated with new or increased seizure activity in a handful of case reports, however, it is our knowledge that this is the first report associated with 0.01% drops. This is important given the growing use of 0.01% drops as well as higher concentrations such as 0.025 % and 0.05% for the treatment of pediatric myopia. Conclusion: While it cannot be proven that the drops were causative in the seizure events, it is important to consider prior seizures as a relative contraindication to the use of these drops.  Atropine has the potential to exacerbate seizure activity, so it is possible that the 0.01% atropine drops played a role in the patient’s seizures. Also, any diagnosis of new-onset seizures in pediatric patients should prompt discontinuation of drops at seizure onset.

Introduction: Cardiac tamponade is an emergency syndrome that requires fast diagnosis and treatment; otherwise patient follows obstructive shock and cardiac arrest. Case report: A 70-year-old female was brought to the emergency department with hypoxemia. She had a history of progressive dyspnea over the past three weeks. Past medical history includes smoking. On physical examination: tachypnea, hypoxemia (SaO2 89%), jugular venous distention, arterial pressure 220/100 mmHg, heart rate rhythmic of 82 bpm. On pulmonary auscultation: diffuse and bilateral crackles. Lung ultrasound showed a bilateral B line and the echocardiogram demonstrated a pericardial effusion with signs of tamponade. A pericardiocentesis evacuated 620 ml of hemorrhagic fluid and the patient was transferred to the intensive care unit, hemodynamically stable, with SaO2 95%. At the ICU the echocardiogram, showed resolution of the cardiac tamponade and a tumor adhered to the lateral wall of the left ventricle. Chest CT demonstrated: a left lung tumor, infiltrating the pericardial sac. A pericardium biopsy demonstrated undifferentiated carcinoma. Discussion: Cardiac tamponade diagnosis requires a high level of suspicion. Respiratory failure, chest pain, and shock, observed in cardiac tamponade, are also present in different diseases. The most common finding of cardiac tamponade is dyspnea (78% of cases). Our patient had dyspnea due to pulmonary edema, secondary to left ventricle diastolic dysfunction caused by the tamponade. A bedside echocardiogram made the diagnosis of cardiac tamponade and guided the effective pericardiocentesis. Conclusion: Cardiac tamponade must be suspected in all cases of acute dyspnea. Echocardiogram is the method of choice for the diagnosis and for guiding the pericardiocentesis.

Sturge-Weber Syndrome (SWS) is a congenital, vascular, neurocutaneous, uncommon disease associated with facial angiomas port wine birthmark (PWB) or “nevus flammeus”, cerebral vascularity alterations (leptomeningeal vascular malformation), and ocular disorders. It is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. GNAQ R183Q is the most frequent related mutation, caused by a postzygotic, somatic, gain-of-function. 75% of patients present seizures during the first year of life, mainly focal motor seizures, with or without consciousness impairment.We present the case of a 33-year-old female with a diagnosis of SWS, with refractory seizures that started at 4 months of age. In this admission, she presented upper and lower respiratory tract infections that culminated in a convulsive status epilepticus (CSE), the reason for which she required sedation and advanced airway management with adjustment of the anti-seizure medication (ASM). An electroencephalogram (EEG) was performed that reported epileptic activity, as well as an imaging study with data suggestive of calcification in the frontal and right parietal region, compatible with vascular malformation.

The vast majority of urological complications occur at the ureterovesical junction and usually occur early after transplantation. The aim of this study is to enhance the quality of medical care provided to patients who undergo kidney transplantation. Cystography was conducted on renal transplant recipients utilizing computed tomography. The utilization of changes in the patient’s position and reconstructed images of the bladder can serve as a diagnostic tool to assess the normal functioning of the urinary tract system subsequent to kidney transplantation. To ensure adequate filling of the bladder and ureter, it is necessary to introduce varying amounts of contrast medium through the urinary catheter into these structures. This diagnostic procedure aims to verify the existence of stenosis or leakage occurring at the vesicoureteral junction. The evaluation and diagnosis of urinary tract problems subsequent to kidney transplantation can be effectively conducted. Furthermore, it has the potential to mitigate the adverse effects and alleviate the strain on the renal system resulting from the administration of contrast agents in computed tomography urography. CT-guided cystography can enhance the medical quality and comfort of Kidney transplantation patients.

Hypersexual disorder, also known as compulsive sexual behavior or sex addiction, is a complex and clinically significant condition characterized by intense and recurrent sexual fantasies, urges, or behaviors that significantly disrupt an individual’s daily life and overall well-being. Despite its importance, hypersexual disorder remains a controversial and debated topic, lacking standardized diagnostic criteria in major classification systems.This review paper provides a comprehensive examination of hypersexual disorder, encompassing its definition, conceptualization, etiology, co-occurring conditions, effects on mental and physical health, assessment, treatment approaches, cultural and ethical considerations, and future research directions. By synthesizing information from existing literature and research, this review aims to deepen our understanding of hypersexual disorder and contribute to the development of evidence-based interventions.The review begins by exploring the evolution of the term “hypersexual disorder” and its current status in diagnostic classifications. It then delves into the potential etiological factors contributing to the development of hypersexual behaviors, including neurobiological, genetic, and psychosocial factors.Furthermore, the review discusses the common comorbidities associated with hypersexual disorder, emphasizing the importance of addressing co-occurring mental health conditions in treatment planning. The psychological and physiological effects of hypersexual behaviors on affected individuals are examined, underscoring the urgency of early intervention and comprehensive treatment.The assessment and diagnosis of hypersexual disorder are thoroughly examined, considering the challenges and methodologies involved in identifying and evaluating affected individuals. Cultural and ethical considerations are highlighted, stressing the significance of providing culturally sensitive and ethical care to diverse populations.In the context of treatment, the review discusses various therapeutic approaches, including psychotherapy, medication, support groups, and harm-reduction strategies. The need for evidence-based treatments tailored to hypersexual disorder is underscored while recognizing the challenges of developing standardized protocols in this evolving field.Finally, future research directions are outlined, focusing on the standardization of diagnostic criteria, prevalence studies, neurobiological investigations, and the integration of cultural competency in treatment approaches.In conclusion, this review paper aims to contribute to a comprehensive understanding of hypersexual disorder and its implications for affected individuals and society. By exploring the multifaceted aspects of the condition, this review seeks to provide insights into effective treatment approaches and inspire further research in the study of hypersexual disorder.

Introduction: Thalassemia is an inherited blood disorder of haemoglobin (Hb) synthesis, which affects different regions around the world. India has the largest number of children with beta-thalassemia major in the world, particularly in the tribal population. Heterozygous conditions are milder and even go unreported than the condition of homozygous where regular blood transfusion is required.Case report: This report focuses on a case of major beta-thalassemia in a child, whose parents are beta thalassemia minor to intermediate conditions, and who was treated by blood transfusion once a month. However, Thalassemia may be cured by allogeneic hematopoietic stem cell transplantation, although not everyone is a good candidate. Genetic counselling, prenatal diagnosis, and selective termination of affected fetuses are effective ways to control thalassemia.Discussion and conclusion: The paper reports a unique case of Thalassemia in rural India. The blood disorder while commonly presented in a juvenile whose parents were Thalassemia positive resulted in the termination of a fetus diagnosed with it. It archives the story of the parents who are now in the process of planning future offspring while mitigating disease risk. The case leads the way for effective management and containment of hereditary genetic disorders through carrier detection while planning alliances and offspring.

Background: Inflammatory bowel disease (IBD) is characterized by non-specific chronic relapsing inflammation of the gastrointestinal tract and extra-intestinal manifestations. It includes Crohn’s disease (CD) ulcerative colitis (UC) and unclassified colitis.Objective: To assess the clinical presentations and management of inflammatory bowel disease in Sudanese patients.Methodology: Prospective, cross-section hospital-based study was conducted at Soba University Hospital (SUH) and Ibn Sina Hospital, in a period from December 2016 to March 2017. Data was entered and analyzed with SPSS, an interview questionnaire containing demographic, clinical, type of IBD, treatment, and complications.Results: A total of 64 IBD patients were included, 50% were diagnosed with UC, 28.1% with CD and 21.9% unclassified type. The most frequent age in UC patients was 41 – 50 years 34.4%, in CD was 31- 40 years 38.9% and for the unclassified type was 51 – 70 years 57.2%. The female was higher in CD while males were higher in Ulcerative colitis disease, symptoms were diarrhea, rectal bleeding, abdominal pain, rectal pain, tenesmus and fatigue. Study participants received 5 amino salicylic acid, and steroids, especially in the oral formulation. Minimal usage of topical forms, azathioprine, and biological agents. Conclusion: The study concluded UC is more common than CD. This should be taken into account as an important update for internal medicine professionals to adjust their expectations and lines of diagnosis, and management. The emergence of the unclassified type in Sudan requires good communication between the pathologists and the physicians and MDT meetings in every patient with suspicion of IBD.

Objectives: The study’s goals are to evaluate the management of Stroke Mimics (SMs), conditions with stroke-like symptoms but non-vascular origins. It seeks to avoid the unnecessary intravenous thrombolysis, the target therapy delays and determine the best SMs diagnosis approach.Materials and methods: A review was conducted of all patients admitted to the Emergency Department under a “stroke code” from January 1, 2018, to January 31, 2019. Anamnestic and clinical data, along with information on neuroimaging protocols and findings, were collected. Advanced MRI sequences, such as Arterial Spin Labeling (ASL) MR perfusion and MR spectroscopy, were revised to confirm the diagnoses.Results: 513 stroke codes were found; a neurovascular disease was diagnosed in 414 cases: 282 ischemic strokes and 73 intracranial hemorrages and 59 TIAs. The 99 SMs included, 13 infections, 12 syncopes, 11 epileptic seizures, 11 hemodinamic conditions, 10 tumors, 9 metabolic disorders, 9 diziness, 7 migraines, 4 drug/alcohol intoxication, 3 functional disorders, 3 acute hydrocefalus, 2 multiple sclerosis, 2 arteriovenous malformations, 1 spinal cord compression and 2 unexplained conditions. Specific neuroimaging findings were evaluated for all cases. Positive and negative predictive values of clinical diagnosis of SM were respectively 0.23 and 0.35. 125 SM patients underwent MRI examination, 40 of which within 3 hours from the activation of stroke code. Advanced MRI sequences as ASL, MR perfusion, MR spectroscopy were used to reach the correct diagnosis.Conclusions: Advanced multimodal MRI can be a valuable tool in the assessment of, particularly in cases where conventional imaging techniques such as DWI-FLAIR mismatch are inconclusive. The novelty of this retrospective study is to demonstrate that the consistent use of arterial spin labeling perfusion in cases with stroke code leads to a rapid and accurate diagnosis of SMs. The implementation of an MRI-based pathway can expedite the diagnosis and treatment of underlying non-vascular causes such as SMs.

As the introduction of immune checkpoint inhibitors in the treatment of various cancers is now proven to be already acquired knowledge, so does a new challenge arise for clinicians; the understanding, diagnosis, and management of the rarest adverse effects of immunotherapy. We present a case of type-1 diabetes Mellitus (T1DM) in a patient with non-small cell lung carcinoma (NSCLC) treated with pembrolizumab. Following ten cycles of treatment, our patient was diagnosed with T1DM after being admitted for diabetic ketoacidosis and stayed hospitalized in the ICU. Later, they continued treatment with insulin, having shown disease response to pembrolizumab, and resumed immunotherapy while on insulin. Immunotherapy-induced T1DM can sometimes occur with PD1/PD-L1 blockage therapies. It has a rapid onset, is characterized by insulin deficiency due to the autoimmune destruction of beta-cells, and usually presents itself with diabetic ketoacidosis. Unlike most of the other adverse effects of immunotherapy, glucocorticoids don’t seem to be of therapeutic value, and insulin substitution is required. Regular glucose monitoring can be key to early diagnosis and prevention of hospitalization. 

Background: Ectopic pregnancy (EP) is a common and serious early pregnancy problem with a significant morbidity rate and the potential for maternal death. Women commonly present with minimal vaginal bleeding and abdominal pain.Objective: The main objective of the study was to evaluate the risk factors, clinical presentation, sites, and management outcomes of ectopic pregnancies. Methodology: It was a prospective descriptive, cross-sectional hospital-based study conducted at Bashair Teaching Hospital during the period January 2021–June 2021.An interview questionnaire was used, and eighty-two (82) women were included after informed consent. Demographic and clinical data concerning personal history, symptoms of presentation, risk, site, and type of management were recorded.Results: Ectopic pregnancy incidence was 2% and most risk factors were infection 29.3%, surgery 15.9%, miscarriage 13.4%, infertility 12.2%, tubal surgery 4.9%, previous ectopic pregnancy 4.9%, intrauterine contraceptive device (IUCD) 3.6%, and tubal ligation 2.4%. Women presented with bleeding and abdominal pain at 47.5%, bleeding at 18.3%, abdominal pain at 9.7%, and shock at 8.5%.The sites are ampullary (57.3%), fimbria (9.7%), interstitial (8.5%), isthmus (8.5%), ovarian (7.3%), cervical (4.8%), and abdominal (3.6%).Surgical management was 93.9%, medical and surgical management was 3.6% and medical management was 2.4%. A blood transfusion was received at 37.8%.Conclusion: The study concluded that women of reproductive age are at risk of ectopic pregnancy, so healthcare providers and doctors should have a high index of suspicion, prompt diagnosis, and intervention for ectopic pregnancy. Assessment of women at risk factors and modifications will reduce incidence. 

Objective: To explore the pathologic response rate to primary progesterone treatment in patients with Endometrial Intraepithelial Neoplasia (EIN) and early-stage endometrioid-type Endometrial Adenocarcinoma (EAC).Methods: Retrospective chart data were collected for patients with either EIN or EAC receiving primary progesterone treatment between 2015 and 2022. The presence of complete or partial response, time to response, and other demographic and treatment factors were recorded to determine independent predictors of response to progestin treatment.Results: In total, 112 women who were diagnosed with EIN or EAC were treated with upfront progestin therapy, of whom 79 had sufficient follow-up to assess response. Fifty patients (63%) responded, of whom 10 (20%) ultimately relapsed. Response was more robust among patients with EIN (79%, n = 33) compared with patients who had cancer (46%, n = 17). The median time to respond was 5.8 months overall. Diagnosis of EIN, younger age at diagnosis, and any pathologic evidence of progesterone effect were all predictors of treatment response. Younger patients had a significantly shorter time to partial or complete response with a median time to response of 5.9 months in patients ≤ 45 and 13.8 months in patients > 45. Conclusion: Our study demonstrated a lower overall response rate (63%) than reported in previous studies, especially for patients with cancer (46%). Younger patients had a significantly shorter time to respond than older patients. Pathologic progesterone effect observed at any time during treatment was a significant predictor of treatment response regardless of diagnosis and could serve as an early predictor of response to therapy.

Hypertrophy of the adenoid is a rare condition in adults, often suspicious of malignancy. We present a case of a 31-year-old female with a clinical presentation of a giant nasopharyngeal mass, clinically suspicious for malignancy, given the size and greyish discoloration. She presented with left-side otalgia, hearing loss, and nasal obstruction. After broad investigations on adenoid tissue following adenectomy, a reassuring diagnosis of adenovirus-related adenoiditis could be made. This case demonstrates the importance of broad microbiological testing in ruling out malignancies. The patient recovered completely.