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Cureus Apr 2024Uterine smooth muscle tumors of undetermined malignant potential (STUMPs) are an uncommon kind of uterine smooth muscle tumor. It is distinguished by histopathologic and...
Uterine smooth muscle tumors of undetermined malignant potential (STUMPs) are an uncommon kind of uterine smooth muscle tumor. It is distinguished by histopathologic and morphologic characteristics that are in between those of a benign leiomyoma and a malignant leiomyosarcoma. From a clinical standpoint, the clinical presentation of STUMP is similar to that of a fibroid. The diagnosis is usually confirmed after surgery. Here, we report the case of a 39-year-old woman who experienced increased menorrhagia, back pain, and pressure sensations during the past six months. She had a well-defined, freely movable lump in her lower abdomen, measuring the size of a 22-cm uterus. The patient exhibited pallor, and her imaging scan showed the presence of an intramural posterior uterine solid mass indistinguishable from fibroid measuring 8.5 × 9 cm. Goserelin acetate (Zoladex 3.6 mg implant) was recommended for a duration of six months. The patient experienced a significant amelioration in menorrhagia and discomfort. However, no reduction in the size of the mass was observed. Myomectomy was made for the suspicion of a malignant transformation. The histology examination confirmed the diagnosis of a STUMP; a hysterectomy was undergone, and the procedure went smoothly. The patient was discharged home in good condition with instructions for long-term follow-up due to a risk of recurrence of about 7%. The lack of standardized and clear clinical and diagnostic criteria for STUMP adds challenges to their management.
PubMed: 38738100
DOI: 10.7759/cureus.58067 -
Cureus Apr 2024B-cell lymphoblastic lymphoma (B-LBL) is an abnormal proliferation of lymphocyte precursor cells located primarily outside of the bone marrow and peripheral blood,...
B-cell lymphoblastic lymphoma (B-LBL) is an abnormal proliferation of lymphocyte precursor cells located primarily outside of the bone marrow and peripheral blood, typically in the mediastinum or other lymph nodes. It is often a disease of childhood that presents with lymphadenopathy, fatigue, pallor, bone pain, and weight loss with laboratory findings of anemia and thrombocytopenia. Initial presentations prompted by head and neck manifestations are exceedingly rare. A five-year-old girl with no significant past medical history presented with right facial swelling and mild proptosis on ophthalmologic evaluation. She was referred to a tertiary care facility by her local otolaryngologist for further management after computed tomographic imaging revealed right maxillary sinus opacification and erosion of the anterior maxillary bone. Her symptoms were initially responsive to prednisone and amoxicillin-clavulanate, and only right unilateral nasal discharge persisted with a near-complete resolution of other sinonasal symptoms. Notably, laboratory values, including complete blood count, were within normal limits. Given concern for the etiology of the bony erosion, the patient presented for a second opinion, where imaging and biopsy resulted in flow cytometry findings consistent with B-ALL/LBL. After a bone marrow biopsy, the ultimate diagnosis was Murphy's stage III B-cell lymphoblastic lymphoma. Malignant neoplasms of the sinonasal region are rare in children, where primary sinonasal B-LBL is a unique occurrence. Clinical features of sinonasal B-LBL in the paranasal sinuses may masquerade as pathologies such as acute sinusitis, orbital cellulitis, and benign tumors or polyps that can lead to a confounding diagnosis. In this case presentation, an initial response to steroids and antibiotics should not provide false reassurance when other features and signs, such as maxillary bone erosion, may suggest the presence of malignancy.
PubMed: 38738089
DOI: 10.7759/cureus.58132 -
IgG4-related disease: Case report and 6-year follow-up of an elusive diagnosis mimicking malignancy.Clinical Case Reports May 2024IgG4-related disease is a rare and emerging pathology, characterized by the appearance of pseudotumors. Due to the ability to mimic other pathologies, it is essential to...
KEY CLINICAL MESSAGE
IgG4-related disease is a rare and emerging pathology, characterized by the appearance of pseudotumors. Due to the ability to mimic other pathologies, it is essential to consider it as a differential diagnosis in multisystemic processes. The diagnosis is challenging, requiring a multidisciplinary approach, to minimize the associated morbidity and mortality.
ABSTRACT
IgG4-related disease (IgG4-RD) is a rare, emerging, systemic and chronic pathology, characterized by the appearance of pseudotumors resulting from tissue infiltration by IgG4-positive plasma cells that promote eosinophilic inflammation of the tissue with subsequent fibrosis. We present the case of a male, 45-year-old patient, with marked weight loss and skin pallor detected by his family doctor during a child health consultation of his daughter. When questioned, the patient referred complaints of postprandial discomfort in the left hypochondrium with a feeling of fullness, weight loss, chronic fatigue and hyperhidrosis that had lasted for a month. On physical examination, he was pale, and had pain at palpation of the left hypochondrium. Laboratory data showed increased inflammation markers, abdominal ultrasound and CT demonstrated numerous enlarged lymph nodes in the upper quadrants, raising concern for a malignant lymphoproliferative process. Serological, imaging, clinical and laparoscopic excisional biopsy revealed features of IgG4-related disease and excluded malignant lymphoproliferative disease. The immediate response to treatment with oral prednisolone 30 mg/day also contributed for diagnosis confirmation. Due to refractory disease after gradual prednisolone reduction, second-line therapy with rituximab was initiated. Over the 6 years of follow-up, the patient presented multiple exacerbations characterized by the emergence of systemic symptoms, being maintained under close clinical and imaging follow-up by reumathology, infectious diseases, and family medicine specialists.
PubMed: 38736580
DOI: 10.1002/ccr3.8894 -
The American Journal of Case Reports May 2024BACKGROUND Thalassemia and hemoglobin (Hb) variants are the most common hereditary red blood cell disorders worldwide. Alpha-thalassemia and alpha-globin variants are...
BACKGROUND Thalassemia and hemoglobin (Hb) variants are the most common hereditary red blood cell disorders worldwide. Alpha-thalassemia and alpha-globin variants are caused by mutations of the alpha-globin genes (HBA2 and HBA1), resulting in impaired alpha-globin production and structurally abnormal globin, respectively. Clinical severity of alpha-thalassemia correlates with the number of affected alpha-globin genes, yielding a spectrum of clinical manifestations from mild to severe anemia. Routine diagnosis involves Hb analysis and PCR-based methods, yet identifying rare variants necessitates comprehensive clinical and hematologic laboratory data. The knowledge of phenotype and genotype correlation is useful for genetic counseling and treatment planning. CASE REPORT A 59-year-old Thai woman presented with chronic anemia. Her baseline Hb level ranged between 8.0 and 9.0 g/dL, with no history of transfusion. Physical examination showed mild pallor, without enlarged liver and spleen. Laboratory investigations showed microcytic, hypochromic anemia and abnormal Hb peak by Hb analysis (retention time 4.58 min by HPLC method). Common alpha-globin gene deletions, including the Southeast-Asian/Thai 3.7 kb and 4.2 kb deletions were tested using gap-PCR, with none of these deletions detected. Direct DNA sequencing revealed a compound heterozygosity of Hb Jax (HBA2: c.44G>C) and Hb Constant Spring (HBA2: c.427T>C). CONCLUSIONS Compound heterozygosity of Hb Jax and Hb Constant Spring results in microcytic anemia. Hb Jax can be identified by Hb analysis, and diagnosis can be confirmed by direct DNA sequencing method. Coinheritance of Hb Jax and alpha-globin variants should be considered in cases with microcytic anemia and a specific Hb peak seen in Hb chromatogram.
Topics: Humans; Female; Hemoglobins, Abnormal; Middle Aged; Anemia, Hypochromic; alpha-Thalassemia; alpha-Globins
PubMed: 38725231
DOI: 10.12659/AJCR.943560 -
Pediatric Neurology Apr 2024The pediatric migraine phenotype may exhibit differences to adults, leading to diagnostic challenges. We aimed to perform a cross-sectional systematic study to...
BACKGROUND
The pediatric migraine phenotype may exhibit differences to adults, leading to diagnostic challenges. We aimed to perform a cross-sectional systematic study to characterize the extended phenotype of pediatric migraine.
METHODS
New migraine patients presenting to the Children's Headache Clinic were included (n = 105). Data were collected via a detailed symptom questionnaire at the first clinical encounter and were analyzed using descriptive statistics, Cohen kappa (k), Spearman correlation (ρ), and Poisson and binomial logistic regression models within SPSS.
RESULTS
Patients were 65% female and aged five to 17 years (median 14, interquartile range [IQR] 11 to 15), with a mean disease duration of 4.7 years (S.D. 2.8). Monthly headache frequency was 1 to 30 days (median 30, IQR 12 to 30). Attack duration varied between 2 and 168 hours (median 12, IQR 5 to 72). The majority (81%) experienced bilateral headache. Premonitory symptoms (PS) were reported by 93% (range 0 to 7; mood change and tiredness most commonly), cranial autonomic symptoms (CAS) by 58% (range 0 to 6; pallor and lacrimation most commonly), and premonitory CAS by 23%. Vertigo (53%) and allodynia (16%) were present. The laterality of headache and CAS showed agreement (k = 0.5, P < 0.001). For every year of disease duration, 1.07 times more PS were reported (95% confidence interval [CI] 1.03 to 1.12, P < 0.001). The number of CAS (odds ratio 2.13, 95% CI 1.2 to 3.8, P = 0.01) significantly predicted allodynia.
CONCLUSIONS
Children display a more enriched PS phenotype with disease chronicity. CAS and allodynia may be markers of central sensitization with shared neurobiological mechanisms in the absence of peripheral nociceptor activation.
PubMed: 38718550
DOI: 10.1016/j.pediatrneurol.2024.03.026 -
Cureus Apr 2024Dysphagia is a common symptom encountered in clinical practice, typically associated with a wide range of etiologies, including structural abnormalities, inflammatory...
Dysphagia is a common symptom encountered in clinical practice, typically associated with a wide range of etiologies, including structural abnormalities, inflammatory conditions, neoplasms, and neurological disorders. However, the combination of subcutaneous emphysema, vocal cord palsy, enlarged arytenoids, and pooling of saliva in a dysphagic patient represents a rare and intriguing presentation. A 33-year-old female presented at a tertiary care hospital in Western India with hoarseness of voice, difficulty in swallowing, productive cough, and neck pain for two months with an abrupt increase in the severity of all symptoms in two days. A history of chewable tobacco use for six years was disclosed. Clinical evaluation revealed a thin build with platynychia and conjunctival pallor, dental staining, drooling of saliva, the presence of extensive subcutaneous emphysema on palpation of the neck, and absent laryngeal crepitus. Endoscopic evaluation was suggestive of right vocal cord palsy and enlarged, congested arytenoid cartilages, post-cricoid growth with pooling of saliva in bilateral pyriform fossae. A CT scan of the neck showed a 2x3 cm neoplastic growth in the hypopharynx, with subcutaneous emphysema and free air foci in the head and neck region, prompting an immediate tracheostomy and biopsy of the hypopharyngeal growth with Ryle's tube insertion. Squamous cell carcinoma was confirmed on the biopsy report. Due to its rarity, the possible underlying cause of idiopathic subcutaneous emphysema should be sought whenever encountered in clinical practice since these patients are potentially misdiagnosed. A high index of suspicion among clinicians, along with a consideration of the constellation of other symptoms and clinical features of a possible underlying hypopharyngeal cancer whenever encountering such patients is of key importance for prompting further investigations and treatment.
PubMed: 38711727
DOI: 10.7759/cureus.57727 -
Medicine May 2024To investigate the difference of early gastric cancer (EGC) detection rate and endoscopic characteristics between painless and ordinary electronic gastroscopy, and... (Observational Study)
Observational Study
OBJECTIVE
To investigate the difference of early gastric cancer (EGC) detection rate and endoscopic characteristics between painless and ordinary electronic gastroscopy, and summarize the clinical data of gastric cancer (GC) patients.
METHODS
Clinical data of 72,000 patients who underwent gastroscopy in the First People Hospital of Huzhou (Zhejiang, China) from January 2016 to December 2021 were retrospectively analyzed. The patients were divided into painless gastroscopy group (observation group, 36,000 cases) and ordinary gastroscopy group (control group, 36,000 cases) according to the examination methods. The detection rate of EGC between the 2 groups and the endoscopic characteristics of EGC lesions between the 2 groups were compared, and the clinical data of GC were summarized.
RESULTS
Painless gastroscopy is safer than ordinary gastroscopy. The detection rate of GC and EGC in the observation group was significantly higher than that in the control group (P < .05); the difference between the 2 groups in the detection rate of advanced GC was not statistically significant. The average length of EGC lesions in the observation group was significantly shorter than that in the control group (P < .05). The proportion of EGC with lesion length <2.0 cm in the observation group was significantly higher than that in the control group (P < .05). The proportion of EGC lesions with type II morphology, normal or pallor mucosal color, and no rupture in mucosa in the control group were significantly lower than that in the observation group, respectively (P < .05). The proportion of EGC distributed in the cardia, fundus and corpus was higher in the observation group than in the control group (P < .05). The incidence of helicobacter pylori (HP) infection, precancerous diseases, first-degree relatives of GC patients, and risk factors in patients with GC was significantly higher than that in non-GC patients (P < .05), multivariate logistic regression analysis showed that these were independent influencing factors for the occurrence of GC.
CONCLUSION
Painless gastroscopy can effectively improve the screening and diagnostic efficiency of EGC, especially for EGC lesions that are not easy to expose the site, small in size, superficial, without obvious mucosal color change or without mucosal breakage. Therefore, the value of painless gastroscopy in EGC screening is worth further promotion and research.
Topics: Humans; Stomach Neoplasms; Gastroscopy; Male; Female; Middle Aged; Retrospective Studies; Early Detection of Cancer; Aged; China; Adult
PubMed: 38701257
DOI: 10.1097/MD.0000000000038120 -
PloS One 2024Infective endocarditis (IE) is a continuously evolving disease with a high mortality rate despite different advances in treatment. In Ethiopia, there is a paucity of...
Predictors of infective endocarditis associated in-hospital mortality in Ayder Comprehensive Specialized Hospital, Tigray, North Ethiopia: Microbiological,clinical features, and management profiles.
BACKGROUND
Infective endocarditis (IE) is a continuously evolving disease with a high mortality rate despite different advances in treatment. In Ethiopia, there is a paucity of data regarding IE. Therefore, this study is aimed at assessing IE-related in-hospital mortality and characterization of IE patients based on their microbiological, clinical features, and management profiles in the Ayder Comprehensive Specified Hospital (ACSH).
METHODS
We conducted a hospital-based prospective follow-up study with all consecutive sampling techniques for suspected infective endocarditis patients admitted to ACSH from January 2020 to February 2022. Echocardiography was performed, and three sets of blood samples for blood culture were taken as per the standard protocol. We also performed isolation of microbial etiologies and antimicrobial susceptibility tests. The data was analyzed using STATA version 16. Stepwise logistic regression was run to identify predictors of in-hospital mortality. Effects were measured through the odds ratio at the 5% level of significance.
RESULTS
Seventy-four cases of suspected infective endocarditis were investigated; of these, 54 episodes fulfilled modified Duke's criteria. Rheumatic heart disease (RHD) (85.2%) was the most common underlying heart disease. Murmur (94.4%), fever (68.5%), and pallor (57.4%) were the most common clinical findings. Vegetation was present in 96.3% of episodes. Blood culture was positive only in 7 (13%) episodes. Complications occurred in 41 (75.9%) cases, with congestive heart failure being the most common. All patients were managed medically, with no surgical intervention. The in-hospital mortality was 14 (25.9%). IE-related in-hospital mortality was significantly associated with surgery recommendation and myalgia clinical symptoms.
CONCLUSION
IE occurred relatively in a younger population, with RHD as the most common underlying heart disease. There was a high rate of culture-negative endocarditis, and the majority of patients were treated empirically. Mortality was high. The establishment of cardiac surgery and strengthening microbiology services should be given top priority.
Topics: Humans; Ethiopia; Male; Female; Hospital Mortality; Adult; Middle Aged; Endocarditis; Prospective Studies; Young Adult; Hospitals, Special; Aged; Follow-Up Studies; Echocardiography; Adolescent; Risk Factors
PubMed: 38696370
DOI: 10.1371/journal.pone.0300322 -
Annals of Medicine and Surgery (2012) May 2024Infantile tremor syndrome (ITS) affects children aged 6-18 months, and is characterized by tremors, pallor, developmental regression, skin pigmentation changes, and...
INTRODUCTION AND IMPORTANCE
Infantile tremor syndrome (ITS) affects children aged 6-18 months, and is characterized by tremors, pallor, developmental regression, skin pigmentation changes, and sparse hypopigmented hair. This case report highlights an ITS presentation in a 16-month-old exclusively breastfed male, emphasizing the significance of complementary feeding.
CASE PRESENTATION
The patient presented with abnormal body movements, loss of developmental milestones, hyperpigmented skin changes, hypopigmented scalp hairs, pallor, and microcephaly. Born to a vegetarian mother with inadequate prenatal care, the child's exclusive breastfeeding till 16 months of age without complementary feeding led to severe developmental delay and moderate malnutrition. Diagnostic workup revealed vitamin B12 deficiency, anaemia, and neurologic abnormalities.
CLINICAL DISCUSSION
ITS is associated with various manifestations, including pallor, hyperpigmentation, and tremors, commonly linked to vitamin B12 deficiency. In this case, developmental delays and malnutrition underscored the importance of early recognition. Despite neurological improvement with vitamin B12 supplementation, ITS's long-term impact on cognitive functions necessitates vigilance and appropriate nutritional interventions.
CONCLUSION
Early recognition of ITS is vital for the prevention of long-term neurodevelopmental sequelae. Injectable vitamin B12 supplementation and nutritional interventions have demonstrated significant developmental gains. Increased awareness among mothers about nutritional intake during pregnancy and lactation is crucial, especially among vegetarians.
PubMed: 38694308
DOI: 10.1097/MS9.0000000000002020 -
JPRAS Open Jun 2024We present a case of Ecthyma gangrenosum (EG) affecting left thigh in a child with acute lymphoblastic leukaemia (ALL) with an aim to raise awareness about this...
AIM
We present a case of Ecthyma gangrenosum (EG) affecting left thigh in a child with acute lymphoblastic leukaemia (ALL) with an aim to raise awareness about this condition.
CASE PRESENTATION
A 7-year-old female child who presented with lethargy, pallor and lumps to inner lip was diagnosed with B-cell precursor ALL. She was started on treatment as per UKALL 2011 guidelines Regime B. On day 28, she developed neutropenic sepsis along with a new lesion in her left thigh. She was started on intravenous Meropenum, Gentamicin and Caspofungin. The clinical diagnosis of EG was made based on lesion progression, positive blood and wound swab & tissue cultures for and patient's immunocompromised status. The wound healed with secondary intention following debridement. We present a series of photographs to demonstrate her remarkable improvement.
DISCUSSION
EG occurs in 1-30% of cases of Pseudomonas sepsis; other bacteria and fungi can be associated with this condition. It is identified more in oncology patients as seen in our patient. A multidisciplinary team approach should be provided in 3 stages with empirical antibiotics, followed by targeted antibiotics or antifungals & surgical debridement. Our patient was treated in similar fashion and made a good recovery.
CONCLUSION
It is a rare skin condition associated with a high mortality. We suggest all clinicians to be vigilant about this condition to be able to provide accurate diagnosis and prompt treatment to improve the overall prognosis.
PubMed: 38681531
DOI: 10.1016/j.jpra.2024.02.010