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1.
BMC Urol ; 23(1): 80, 2023 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-37138272

RESUMO

BACKGROUND: Blunt trauma to the urinary bladder is common with penetrating injury being a rare occasion. Most common entry pint for penetrating injuries includes buttock, abdomen and perineum with thigh being rare. There are a number of complications that may develop as a result of penetrating injury with vesicocutanous fistula being a rare occurrence that usually presents with typical sign and symptoms. CASE PRESENTATION: We present a rare case of penetrating bladder injury through medial upper thigh as an entry point that had complicated into vesicocutaneous fistula with atypical presentation of long-standing pus discharge that had been managed by incision and drainage several times with no success. MRI demonstrated a presence of fistula tract and a foreign body (piece of wood) in-situ confirmed the diagnosis. CONCLUSION: Fistulas are a rare complication of bladder injuries and can cause negative impact on the quality of life of patients. Delayed urinary tract fistulations and secondary thigh abscesses are uncommon therefore a high index of suspicion is needed for early diagnosis. This case emphasizes the importance of radiological tests in aiding the diagnosis and ultimately proper management.


Assuntos
Fístula Cutânea , Doenças da Bexiga Urinária , Fístula da Bexiga Urinária , Ferimentos Penetrantes , Humanos , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/lesões , Qualidade de Vida , Fístula da Bexiga Urinária/diagnóstico por imagem , Fístula da Bexiga Urinária/etiologia , Fístula da Bexiga Urinária/cirurgia , Doenças da Bexiga Urinária/complicações , Pelve/lesões , Fístula Cutânea/diagnóstico por imagem , Fístula Cutânea/etiologia , Fístula Cutânea/cirurgia , Ferimentos Penetrantes/complicações , Ferimentos Penetrantes/diagnóstico por imagem , Ferimentos Penetrantes/cirurgia
2.
Am J Med Genet A ; 185(3): 986-989, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33368989

RESUMO

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.


Assuntos
Anormalidades Múltiplas/genética , Acrocefalossindactilia/genética , Códon sem Sentido , Mutação Puntual , Proteínas rab de Ligação ao GTP/genética , Anormalidades Múltiplas/epidemiologia , Acrocefalossindactilia/diagnóstico por imagem , Acrocefalossindactilia/epidemiologia , Feminino , Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/genética , Homozigoto , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Masculino , Fenótipo , Exame Físico , Tanzânia/epidemiologia , Tomografia Computadorizada por Raios X , Proteínas rab de Ligação ao GTP/deficiência
3.
Am J Med Genet A ; 179(10): 2034-2038, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31350806

RESUMO

We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub-Saharan Africa.


Assuntos
Síndrome de Ellis-Van Creveld/genética , Síndrome de Ellis-Van Creveld/diagnóstico , Mãos/diagnóstico por imagem , Humanos , Lactente , Masculino , Polidactilia/diagnóstico por imagem , Tanzânia , Tíbia/diagnóstico por imagem
4.
Pacing Clin Electrophysiol ; 41(7): 854-865, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29786883

RESUMO

BACKGROUND: Hypertrophic cardiomyopathy (HCM) with or without left ventricular apical aneurysm (LVA) had been studied in the past. Midventricular obstruction associated with HCM and LVA is a unique entity that has not been distinguished previously as a separate phenotypic disease in HCM patients. METHODS: A systematic review of Pubmed and Google Scholar was conducted from inception until September 2017 for all observational studies conducted on HCM with midventricular obstruction and LVA. RESULTS: A total of 94 patients from 39 studies were included in our analysis. The mean age of the patients was 58.05 ± 11.76 years with 59.6% being males. The most common electrocardiographic finding was T wave inversion occurring in 13.8% of the cases followed by ST elevation (9.5%). Maximal left ventricle (LV) wall thickness was reported 18.89 ± 5.19 mm on transthoracic echocardiography and paradoxical jet flow was detected in 29.8% of patients. Beta-blockers (58.5%) were the most common drug therapy at baseline and amiodarone (10.6%) was the most common antiarrhythmic used for ventricular tachycardia (VT). The most common complication, VT, occurred in 39.3% of cases and the incidence of all-cause mortality was 13.8 % over 16 ± 20.1 months follow-up. Implantable cardioverter defibrillator (ICD) was used in 37.2% of patients; 25.7% of patients with ICD received appropriate shock therapy. CONCLUSION: HCM with LVA and midventricular obstruction is a unique entity that appears to be associated with high incidence of morbidity and mortality. Thus, early diagnosis and therapeutic intervention is recommended for management of this condition.


Assuntos
Cardiomiopatia Hipertrófica/complicações , Aneurisma Cardíaco/etiologia , Obstrução do Fluxo Ventricular Externo/complicações , Aneurisma Cardíaco/diagnóstico por imagem , Aneurisma Cardíaco/terapia , Ventrículos do Coração , Humanos
5.
Echocardiography ; 35(8): 1227-1229, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29975433

RESUMO

Congenital inferior sinus venosus defect (SVD) is a rare congenital heart disease. Proper diagnosis of this disease is challenging and requires understanding of cardiac hemodynamics. Here, we discuss a patient with a late presentation of combined congenital inferior SVD associated with congenital pulmonary stenosis.


Assuntos
Anormalidades Múltiplas , Diagnóstico Tardio , Ecocardiografia Doppler em Cores/métodos , Eletrocardiografia , Comunicação Interatrial/diagnóstico , Estenose da Valva Pulmonar/diagnóstico , Radiografia Torácica/métodos , Humanos , Masculino , Estenose da Valva Pulmonar/congênito , Doenças Raras , Fatores de Tempo , Adulto Jovem
7.
J Thromb Thrombolysis ; 38(1): 78-80, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24497053

RESUMO

Left ventricular (LV) pseudo aneurysm is a contained rupture of ventricular wall by adherent pericardium or scar tissue. We present a case of a 70 year-old male presented with exertional dyspnea for 2 months and found to have giant LV pseudo aneurysm on transthoracic echocardiogram, cardiac MRI and angiogram. To our knowledge such a large pseudo aneurysm involving LV apex and presenting as congestive heart failure is the first case in literature.


Assuntos
Falso Aneurisma/patologia , Insuficiência Cardíaca/patologia , Ventrículos do Coração/patologia , Idoso , Ecocardiografia , Humanos , Angiografia por Ressonância Magnética , Masculino
8.
Case Rep Surg ; 2024: 7777258, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38223374

RESUMO

Intussusception is rarely seen in adulthood but is commonly seen in the pediatric age group. Causes of intussusception in adults are commonly due to tumors and inflammatory diseases. Intussusception in adults accounts for less than 5% of intestinal obstruction. Colonic lipomas are usually asymptomatic and are mostly managed surgically with promising outcomes as seen in our case.

9.
J Invasive Cardiol ; 36(1)2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38224301

RESUMO

We present a case of a 57-year-old male who underwent bioprosthetic mitral valve replacement (MVR) and developed postoperative cardiogenic shock requiring venoarterial extracorporeal membrane oxygenation (VA ECMO) and Impella 5.5 (Abiomed) hemodynamic support.


Assuntos
Valvuloplastia com Balão , Oxigenação por Membrana Extracorpórea , Veias Pulmonares , Masculino , Humanos , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Período Pós-Operatório
10.
Clin Case Rep ; 12(6): e8934, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38799530

RESUMO

Key Clinical Message: Button battery ingestion has been a common condition encountered by otorhinolaryngologists. Impaction in the esophagus can lead to serious and fatal complications such as tracheoesophageal fistula. Management involves a multidisciplinary team and varies from supportive therapy to surgical intervention. Abstract: Ingestion of button batteries has been seen with increasing frequency over the past decade. In several small numbers of reported cases, their impaction in the esophagus has led to severe, sometimes fatal, complications. The management of these cases has varied from expectant, supportive therapy to early surgical intervention. We report a case of button battery ingestion that was diagnosed late and resulted in a complication of tracheoesophageal fistula with migration to the thorax which was managed by open surgery.

11.
SAGE Open Med Case Rep ; 12: 2050313X241254739, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38764918

RESUMO

Pulmonary embolism is one of the rarest complications of high-altitude sickness that can coexist with high altitude pulmonary edema. The risk of developing this phenomenon increases significantly with prolonged stay in high altitudes especially above 5000 m. Given the fatality of the condition, early screening and management is crucial; however, there is no gold standard approach in diagnosis. A 44-year-old male, a Tanzanian tourist first time hiking Mt. Kilimanjaro developed difficulty in breathing on the 4th day of ascending on a route that takes 6 days to summit whereby he was saturating at 38% on room air at the height of 4775 m. He was admitted with the clinical diagnosis of high altitude pulmonary edema. However, in the course of treatment for 72 h with no improvement, further investigations including computed tomography scan were suggestive of pulmonary embolism whereby he was treated with full recovery. Pulmonary embolism case reports are increasingly rising with the difficult to notice among high altitude pulmonary edema patients given their presentation similarities. A high index of suspicion based on clinical examination and investigations should prompt a clinician to include or exclude it.

12.
Ecancermedicalscience ; 18: 1722, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39026658

RESUMO

Introduction: Cancer rates are rising in low- and middle-income countries. While point-of-care ultrasound is now available globally and could serve to mitigate against this rise, its use in diagnosing cancers is inconsistent in lower-resourced healthcare contexts. This proof-of-concept study investigates the feasibility of an ultrasound training concept in a low-resource setting. It evaluates whether this educational concept led to improved knowledge and application of ultrasound diagnostics, cancer screening and staging and patient care. Material and methods: The curriculum was developed through expert exchange and is based on the World Health Organisation's Manual of Diagnostic Ultrasound. It consisted of two didactic components: an on-site training phase across 5 days for a total of 24 hours, and a digital follow-up phase involving the meeting of a bi-weekly tumor board online. The learning objectives of the on-site training were normal imaging and recognition of common pathologies of the abdominal organs, vessels, lymph nodes, female breasts and lungs. The virtual tumour boards met to discuss cases and ultrasound findings, thus aiding continuing professional development after the training sessions had concluded. The face-to-face course component was accompanied by tests given before and after training as well as an evaluation sheet (Likert-scale with 1 = 'completely/very good' and 7 'not at all/very poor'). Results: Of 20 participants from a rural hospital in Tanzania, a total of 16 were included in the analysis (clinical officers n = 6; medical officers n = 10). A significant increase in knowledge (p < 0.01) was measured both in the subjective self-assessment and in the theoretical competence tests. In multivariate linear regression, the status 'medical officers yes' (ß = 5.4; p = 0.04) had a significant influence on theory test results at T2. During the 24 virtual tumour board meetings, 28 cases were discussed and a continuous improvement in image acquisition quality was observed. Conclusion: The ultrasound education concept comes with a sustainable increase in clinical competence and improved oncological ultrasound screening locally. There is potential for the transfer of the concept to other locations, which can be explored in the future.

13.
Heart Lung Circ ; 22(9): 775-7, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23415891

RESUMO

Tako-tsubo cardiomyopathy was first described in Japan in 1990. The clinical presentation of Tako-tsubo cardiomyopathy (TCM) is similar to an acute myocardial infarction with patients having chest pain, ST segment elevations on EKG and elevated cardiac biomarkers. In TCM, however, the elevation in cardiac enzymes is usually mild. We report a case of TCM where the patient had Troponin I elevation up to 42.3 ng/ml. To the best of our knowledge, this is the first case in which such high troponins have been reported in a patient with Tako-tsubo cardiomyopathy.


Assuntos
Cardiomiopatia de Takotsubo/sangue , Troponina I/sangue , Biomarcadores/sangue , Feminino , Humanos , Pessoa de Meia-Idade
14.
Clin Case Rep ; 11(4): e7214, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37096168

RESUMO

Sclerosing epithelioid fibrosarcoma (SEF) is a rare and distinctive variant of fibrosarcoma. To date, about 100 cases only have been documented. Histopathologically, it resembles a variety of benign, pseudosarcomatous and other malignancies. Early diagnosis and treatment are vital for improving the treatment outcomes.

15.
Int J Surg Case Rep ; 110: 108709, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37633195

RESUMO

INTRODUCTION: Tuberculosis (TB) is one of the leading causes of mortality and morbidity in the world, especially in developing countries that account for 98 % deaths among TB cases. Although TB is primarily a disease of the lungs, extrapulmonary manifestations have been reported. Although CNS tuberculoma mostly affects immunocompromised people, it also affects healthy people at extremes of age. Imaging of intracranial tuberculoma may look like neurocysticercosis, and other ring-enhancing lesions hence imposing a diagnosis dilemma. CASE PRESENTATION: A 13-year-old female presented with headache, convulsions, blurry vision, and gait disturbance for six months. Brain imaging showed a left cerebellar lesion with obstructive hydrocephalus. She underwent ventriculoperitoneal shunting on admission, then sub-occipital craniotomy with tumor resection one week later. Histology confirmed a diagnosis of tuberculoma. She was given anti-tuberculosis medications and she was discharged home healthy without any of the symptoms she had on admission. DISCUSSION: Although only about 1 % of active tuberculosis cases presents as CNS TB, 5-10 % of intracranial space-occupying lesions in developing countries are tuberculomas. Provisional diagnosis of tuberculoma can be made through clinical history, examination, and neuroimaging. However, it is challenging because neurocysticercosis also appears as a ring-enhancing lesion in the brain and has almost similar prevalence in low-income settings. Being immunocompetent with no history of tuberculosis or constitutional symptoms, a diagnosis of tuberculoma was only confirmed by histology. CONCLUSION: A high index of suspicion for CNS tuberculomas in TB endemic areas should be kept in patients presenting with features of intracranial space-occupying lesions regardless of the absence of risk factors.

16.
Int J Surg Case Rep ; 111: 108804, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37703698

RESUMO

INTRODUCTION AND IMPORTANCE: Brain metastasis is the most common associated consequence of primary lung cancers, and it has a major detrimental influence on patients' survival and quality of life. Modern imaging modalities such as brain MRIs and PET scans are preferred for assessing these lesions. Complete surgical resections have been shown to enhance survival. CASE PRESENTATION: We present the case of a 59-year-old male patient who had a history of progressive left-sided weakness and right-sided headaches with no respiratory symptoms. A solitary brain lesion was noticed, prompting a surgical resection. Histology findings confirmed brain metastases, and a thoracic CT scan revealed a primary lung tumour. The patient was scheduled for chemotherapy. DISCUSSION: Primary lung tumors often disseminate to the brain. The brain metastatic lesions in advanced lung cancer are often numerous and smaller in size, based on MRI imaging. The patient's symptomatology obscured the existence of an underlying lung tumour, delaying focused therapy. The early symptomatology and scans of our patient indicated the probability of a solitary brain tumour, necessitating a surgical excision. CONCLUSION: Prompt management of brain metastatic lesions is crucial. Yet, some patients emerge with atypical characteristics of the lesions that hint to a primary brain lesion and conceal the presence of a lung tumour. Enhancing these patients' prognoses necessitates a targeted therapy that includes a comprehensive examination, radiological imaging, and recognition of the distinctive brain patterns in patients with lung cancer. The merits of complete or incomplete resections for multiple brain metastatic lesions might be a fascinating subject of discussion.

17.
Int J Surg Case Rep ; 102: 107828, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36463689

RESUMO

INTRODUCTION AND IMPORTANCE: Chyle is a lipid-rich, milky-appearing fluid originating from lymph tissues. Chylous ascites is the collection of chyle in the peritoneal cavity and is a rare pathology. CASE PRESENTATION: In this case report we share our experience of successfully managing chylous ascites conservatively from a resource-limited setting. CLINICAL DISCUSSION: There are numerous causes hence management includes treating the cause. Generally responds well to conservative management however some cases require surgical intervention. CONCLUSION: Ascitic tapping is an effective diagnostic and therapeutic tool is chylous ascites.

18.
SAGE Open Med Case Rep ; 11: 2050313X231168555, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37122428

RESUMO

A 35-year-old man presented with a right lateral neck mass for 6 years. Thyroid function test was within normal limits. Computed tomography scan of the neck was suggestive of branchial cyst, tuberculous lymphadenopathy and normal thyroid gland. Fine needle aspiration cytology of cervical lymph node was suggestive of metastatic carcinoma. Branchial cystectomy spearing the thyroid gland was undertaken. Histopathology analysis of the resected specimen confirmed it to be papillary thyroid carcinoma originating from ectopic thyroid tissue in a branchial cyst. The patient was scheduled for total thyroidectomy and neck dissection. Unfortunately, he was lost to follow-up. A brief review of the literature regarding this unusual presentation of thyroid cancer has been provided.

19.
J Surg Case Rep ; 2023(4): rjad187, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37057058

RESUMO

Metanephric adenoma is an uncommon renal tumor with almost exclusively benign behavior, which can clinically and radiologically imitate malignancy. The histological examination is therefore crucial in diagnosis. Herein, we report a case of an 18-year-old male with a huge left renal mass. Histopathology and immunohistochemistry of nephrectomy resection specimen confirmed it to be metanephric adenoma. We present our experience with this rare tumor entity and literature review with focusing on differential diagnosis.

20.
Int J Surg Case Rep ; 108: 107896, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37301671

RESUMO

INTRODUCTION: Plexiform fibromyxoma (PF) is a rare benign mesenchymal neoplasm of stomach recognized by the WHO. The tumor often arises in the antrum and pyloric region of the stomach. Morphologically, PF tumors display bland spindle cells in myxoid or fibromyxoid stroma and can be misdiagnosed as gastrointestinal stromal tumor (GIST). PRESENTATION OF CASE: A-21-year old female presented to emergency department with peritonitis due gastric tumor leading to gastric perforation and pus collection in the abdomen. Partial gastrectomy was performed. Histopathology, immunohistochemical (IHC) and fluorescent in-situ hybridization assessment of the specimen confirmed the diagnosis of PF. One year postoperative, the patient remains symptoms free. CLINICAL DISCUSSION: A great majority of gastric mesenchymal tumors are GIST. Histopathologically, PF tumors display a multinodular and plexiform architecture with arborizing vasculature. Cytologically these tumors show bland spindle cells in myxoid or fibromyxoid stroma with a rare or no mitotic figures. Thus, PF may easily be under recognized or misinterpreted without the pathologists' knowledge of this entity. Misinterpreting PF as GIST can lead to inappropriate treatment including unnecessary surgery and/or chemotherapy, which is an expensive. Recommended treatment is surgical excision. Metastases and recurrence following complete excision have not been described. This case highlights unexpected presentation in a young female where other competing diagnoses were more plausible before considering PF diagnosis which could not have been established without advanced diagnostic techniques. CONCLUSION: PF is a rare mesenchymal tumor with nonspecific clinical characteristics. It is principally located in the gastric antrum and prepyloric regions, however other parts of the body may be affected. PF tumors should be separated from GIST, nerve sheath tumors, and other fibromyxoid neoplasms. The worth in writing lies in epidemiological custodianship for such a unique presentation of a rare gastric neoplasm.

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