OpenMed/multicare-articles huggingface dataset:
Long Standing Esophageal Perforation due to Foreign Body Impaction in Children: A Therapeutic Challenge in a Resource Limited Setting
Authors: Ngo Nonga Bernadette, Jean Jacques Ze, Angele O Pondy, Claude M Kalla, Nelly Kamgaing, Daniel Handy Eone
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Late presentation of foreign body impaction in the esophagus, complicated by perforation in children, has rarely been reported in the literature. Esophageal surgery is very difficult and challenging in Cameroon (a resource limited setting). We are reporting herein 2 cases of esophageal perforation in children seen very late (12 days and 40 days) after foreign body impaction, complicated with severe sepsis, who were successfully operated upon with very good results.
Confocal laser scanning microscopy, a new in vivo diagnostic tool for schistosomiasis
Authors: Carlos Fritzsche, Oliver Stachs, Martha Charlotte Holtfreter, Constanze Nohr-Łuczak, Rudolf Friedrich Guthoff, Emil Christian Reisinger
Journal: PLoS One (2012)
MeSH terms: Microscopy, Confocal / methods, Schistosomiasis haematobia / diagnosis, Case Reports, Humans, Male, Middle Aged, Urinary Bladder / parasitology, Urothelium / parasitology

Background:
The gold standard for the diagnosis of schistosomiasis is the detection of the parasite's characteristic eggs in urine, stool, or rectal and bladder biopsy specimens. Direct detection of eggs is difficult and not always possible in patients with low egg-shedding rates. Confocal laser scanning microscopy (CLSM) permits non-invasive cell imaging in vivo and is an established way of obtaining high-resolution images and 3-dimensional reconstructions. Recently, CLSM was shown to be a suitable method to visualize Schistosoma mansoni eggs within the mucosa of dissected mouse gut. In this case, we evaluated the suitability of CLSM to detect eggs of Schistosoma haematobium in a patient with urinary schistosomiasis and low egg-shedding rates.
Methodology/principal findings:
The confocal laser scanning microscope used in this study was based on a scanning laser system for imaging the retina of a living eye, the Heidelberg Retina Tomograph II, in combination with a lens system (image modality). Standard light cystoscopy was performed using a rigid cystoscope under general anaesthesia. The CLSM endoscope was then passed through the working channel of the rigid cystoscope. The mucosal tissue of the bladder was scanned using CLSM. Schistoma haematobium eggs appeared as bright structures, with the characteristic egg shape and typical terminal spine.
Conclusion/significance:
We were able to detect schistosomal eggs in the urothelium of a patient with urinary schistosomiasis. Thus, CLSM may be a suitable tool for the diagnosis of schistosomiasis in humans, especially in cases where standard diagnostic tools are not suitable.
Anlotinib Combined With Chemotherapy for Recurrence of Pulmonary Sarcomatoid Cancer Previously Surgically Treated: A Case Report and Literature Review
Authors: Jing Li, Hejun Liang, Jian He, Xin Sui, Yanru Qin
Journal: Front Oncol (2021)
Keywords: anlotinib, case report, chemotherapy, pulmonary sarcomatoid cancer (psc), targeted therapy
MeSH terms: Case Reports

Background:
Pulmonary sarcomatoid cancer (PSC) is a very rare subtype of poorly differentiated non-small-lung-cancer (NSCLC) with very poor prognosis. To date, the optimal treatment for PSC has not been elucidated, and the efficacy of anlotinib in PSC has not been previously reported.
Case presentation:
A 77-year-old male patient was admitted with cough, expectoration, and blood-stained sputum for one month. CT showed a soft mass in the inferior lobe of the right lung, which was diagnosed as spindle cell carcinoma (PSC) by histopathology. A videothoracoscopic right lower lobectomy and mediastinal lymph node dissection procedure was performed on the patient, but the disease recurred one month after surgery. The patient was then given first-line chemotherapy with gemcitabine and albumin paclitaxel for one cycle, but the disease continued to progress. The patient then received anlotinib combined with second-line chemotherapy (dacarbazine and cis-platinum) for six cycles, and the response reached complete remission (CR). Then the patient was given maintenance therapy with anlotinib alone, and the disease was still stable at the most recent reexamination. Progression-free survival (PFS) has lasted for more than two years, without any intolerable toxicity.
Conclusion:
This postoperative recurrent PSC patient achieved significant clinical benefits with anlotinib treatment. Our findings provide direct evidence of the efficacy of anlotinib in PSC. More studies are needed to confirm our observation.
Vitamin B6 Neonatal Toxicity
Authors: Andrea Guala, Giulia Folgori, Micaela Silvestri, Michelangelo Barbaglia, Cesare Danesino
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Vitamin B6 is a micronutrient required by the body. It acts as a coenzyme in biochemical reactions. Vitamin B6 toxicity is not caused by the intake of food-based sources. The few reported cases of vitamin B6 toxicity are always caused by overdosing of nutritional supplements. Chronic toxicity typically occurs with peripheral neuropathy such as paraesthesia, ataxia, and imbalance, paradoxically mimicking vitamin B6 deficiency. However, the prognosis is favorable, and symptoms usually show improvement once excessive vitamin B6 levels return to the physiological range. We report a newborn presenting with diffuse tremor at birth, interpreted as secondary to the mother's intake of high doses of a supplement containing vitamin B6 during pregnancy and breastfeeding. As expected, the newborn's serum levels of vitamin B6 were high. The tremors disappeared when the maternal supplement was stopped.
Diagnosis and Treatment of Paracoccidioidomycosis in the Maxillofacial Region: A Report of 5 Cases
Authors: Antonio Dionízio De Albuquerque Neto, André Vitor Alves Araújo, Daniel Assunção Cerqueira, Lorenzzo De Angeli Cesconetto, Nilton Provenzano, Eder Magno Ferreira de Oliveira
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Paracoccidioidomycosis is a fungal infection initially described in Brazil in 1908 by Adolfo Lutz. Manifestation of this disease depends on numerous factors, such as microorganism virulence, hormonal profile, genetic predisposition, nutrition, and immune system. It is characterized classically by cutaneous lesions, lymphadenopathy, and pulmonary involvement. It presents male predilection, which can be explained by the protective effect of female hormones. Classic presentation within oral cavity is a superficial ulcer characterized by hemorrhagic dots of moriform aspect. Treatment should be established individually and closely monitored. This manuscript aims at reporting five cases of this pathology.
Extensive Abdominal Skin Necrosis Following Anterior Component Separation for a Large Ventral Hernia: A Case Report
Authors: Branko Bakula, Marko Sever, Andrija Karačić, Mirko Bakula, Martin Grbavac, Ivan Romic, Ante Bogut, Zvonko Zadro
Journal: Front Surg (2021)
Keywords: anterior component separation (acs), hernia recurrence, postoperative complication, skin ischemia, wound dehiscence
MeSH terms: Case Reports

Introduction: Hernia surgery is one of the most common operative procedures, performed in about 20 million cases per year all over the world, with ventral hernia accounting for about 30% of the cases. Although the introduction of the anterior component separation (ACS) method, popularized primarily by Oscar Ramirez, has greatly facilitated the closure of the largest abdominal wall defects, the 30-year experience in this technique has pointed to the risk of ischemic skin complications consequential to the major subcutaneous tissue dissection required. The aim of this case presentation of a patient who developed extensive necrosis of the abdominal wall skin following ACS procedure is to emphasize the importance of preserving rectus abdominis perforator blood vessels in order to preserve skin vitality. Case Presentation: We present a case of a 58-year-old female patient with a large recurrent ventral hernia. The hernial defect was closed by placing a large (30 × 25 cm) polypropylene mesh in the retro-rectus space using the Rives-Stoppa technique. To facilitate upper fascia closure ACS according to Ramirez was performed bilaterally. The rectus perforator vessels were not preserved. Recovery of the patient was complicated with the extensive abdominal skin necrosis which was successfully treated with negative pressure wound therapy. Discussion: Transection of the musculocutaneous perforators of the epigastric artery during ACS results with the compromised blood supply of the abdominal skin depending solely upon the intercostal arteries. Skin ischemia following ACS is a serious complication that can be presented with extensive necrosis associated with high morbidity and even mortality, while the treatment is long lasting, complex, and expensive. Considering the ever-increasing prevalence of large ventral hernias, ever greater popularity of the ACS technique, and the growing proportion of surgeons performing large ventral hernia operations independently, we think that the role of preserving perforated rectus vessels has not been emphasized enough. Therefore, the objective of this case study is to stimulate surgeons to preserve skin vascularity and promote it in their routine in order to avoid these severe postoperative complications.
Mule bite to the male genitalia with complete penile and anterior urethra amputation: unusual case and review of the literature
Authors: M A Lakmichi, B Wakrim, R Jarir, Z Dahami, M S Moudouni, I Sarf
Journal: ISRN Urol (2011)
MeSH terms: Case Reports

Animal bite is rare with few cases reported in the literature. The morbidity of animal bites is directly related to the severity of the initial wound. Most victims are boys, and dog bites are the most common injury. Infectious complications are unusual, since treatment is sought early (Wein 2007). Thus, urologists are not usually familiar with management and principles for treating this condition. The authors report the case of a 38-year-old male with a severe mule bite injury to the genitalia causing complete penile and anterior urethra amputation and scrotal wound with no involvement of its contents. To our knowledge, no such case had ever been reported in the medical literature. This kind of emergencies is challenging for urologists.
NUT Carcinoma of the Lung：A Case report and Literature Analysis
Authors: Rongshuang Zhao, Ze Hua, Xiaodong Hu, Qi Zhang, Jin Zhang, Jian Wang
Journal: Front Oncol (2022)
Keywords: case report, literature analysis, lung, midline carcinoma, nuclear protein in testis
MeSH terms: Case Reports

NUT carcinoma is a rare, highly aggressive cancer that feature as the rearrangement of the nuclear protein in the testis (NUT) gene on chromosome 15q14, and its pathogenesis and treatment is not yet clear. In this case, we report a 40-year-old male patient who was diagnosed with primary pulmonary NUT carcinoma in The Second Affiliated Hospital of Zhengzhou University. A tumor was found at the right hilus pulmonis when his physical examination with chest pain for half a month. Histopathology confirmed by fluorescence in situ hybridization technique for the NUT carcinoma. After chemotherapy, radiotherapy, immunotherapy, and targeted therapy were given, the patient died. The overall survival time was 4.7 months. Combined with the existing literature, we retrospective report the clinical and pathological characteristics and treatment strategies of the rare lung NUT carcinoma.
A Rare Case of Checkerboard-Like Becker Nevi with a Unique Distribution of Abnormalities
Authors: Chanidapa Wongtada, Pravit Asawanonda, Marisa Pongprutthipan
Journal: Case Rep Dermatol Med (2019)
MeSH terms: Case Reports

Becker nevus syndrome refers to a rare disorder comprising the typical pigmented lesion and its associated developmental abnormalities. Becker nevus itself is typically localized on the upper trunk, scapular or upper arm unilaterally; however, it can occasionally occur as multiple or bilateral lesions on any parts of the body. In this report, a rare case of multiple Becker nevi arranged in a unique checkerboard-like pattern is presented. More uniquely, the associated abnormalities found in this patient, breast hypoplasia and leg lipodystrophy, seem to be regionally correlated with the nevi. In closing, we would like to raise an easy-to-remember 6B's mnemonic, which stands for Becker, Breast, Bone, Bowen's disease, Basal cell carcinoma, and Beta-actin, for the cases of Becker nevus syndrome.
Acute fibrinous and organizing pneumonia and undifferentiated connective tissue disease: a case report
Authors: Valéria Valim, Roberta Hora Rocha, Roberta Barcelos Couto, Thaysa Simões Paixão, Erica Vieira Serrano
Journal: Case Rep Rheumatol (2012)
MeSH terms: Case Reports

Acute fibrinous and organizing pneumonia (AFOP), recently described, is a histologic pattern characterized by the presence of fibrin "balls" within alveolar spaces. The term undifferentiated connective tissue disease (UCTD) is used to identify autoimmune systemic diseases that do not fulfill the criteria to be classified as a definitive connective tissue disease. The AFOP has never been reported in association with UCTD. The present reported case is a 39-year-old Caucasian, female with dry cough and progressive dyspnea. Eight months later, she was diagnosed with "organizing pneumonia" based on clinical history and radiologic images. She manifested Raynaud's Phenomenon, sicca syndrome, boot and gloves neuropathic pain, and previous hypothyroidism. Antinuclear antibody, rheumatoid factor, and specific autoantibodies were negative. Salivary gland biopsy and electroneuromyiography were normal. The capillaroscopy showed a "scleroderma" pattern with capillary deletion and ectasia. She experienced clinical and radiologic worsening. Despite being submitted to cyclophosphamide pulse, she developed hemorrhage and then died. Thoracotomy pulmonary specimen showed histological pattern of AFOP. This paper shows a rare association of AFOP with UCTD.
Myelodysplasia and Mast Cell Leukemia with t(9;22)
Authors: Kathryn J Lago, Matthew P Shupe, William N Hannah, Gopalrao V N Velagaleti, Christina Mendiola, Veronica Ortega, Brian R Haney
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Introduction:
Mast cell leukemia (MCL) is a rare variant of systemic mastocytosis. Most cases of mast cell leukemia do not have cytogenics performed. Furthermore, there is no consistent chromosomal abnormality identified in MCL. This is the first reported case of MCL with a (9;22) translocation.
Case report:
An 80-year-old female presented with pancytopenia and was diagnosed with MDS. Over time, she required hospitalizations for platelet transfusions with increased frequency. She developed fatigue and weakness along with gastrointestinal symptoms. On exam, she had diffuse abdominal tenderness and a maculopapular rash. Her lab results revealed a new basophilia. A bone marrow biopsy showed 100% cellularity with many aggregates of mast cells. Chromosomal analysis showed t(9;22) with confirmed BCR/ABL1 fusion by fluorescence in situ hybridization (FISH).
Discussion:
MCL has a poor prognosis due to the aggressive nature of the disease and ineffective therapies. Translocation (9;22) is known to be associated with MDS transformations to acute leukemia; however, this translocation has never been reported in MCL. Further research on the relationship between t(9;22) and MCL could lead to development of improved therapeutic options.
Long term persistence of coronavirus SARS-CoV-2 infection
Authors: João Renato Rebello Pinho, Ketti Gleyzer de Oliveira, Roberta Sitnik, Maira Marranghello Maluf, Pedro Henrique Sebe Rodrigues, Rúbia Anita Ferraz Santana, Eliane Rosseto Welter, Ophir Irony
Journal: Einstein (Sao Paulo) (2021)
MeSH terms: COVID-19, Case Reports, Brazil, Humans, Pandemics, SARS-CoV-2, Serologic Tests

During the COVID-19 pandemic, a case of a long-term persistence of SARS-CoV-2 infection (from March 26 to May 20, 2020) was identified at a private hospital in São Paulo, SP, Brazil. The long-term positivity for SARS-CoV-2 in reverse transcriptase polymerase chain reaction tests of a patient diagnosed with COVID-19 suggests, at least part of patients who recovered, may still carry and transmit the SARS-CoV-2 virus. This fact emphasizes the importance of having at least two negative reverse transcriptase polymerase chain reaction test results for SARS-CoV-2. Serological assays were not particularly helpful in the case described, since the patient had very low antibodies titers at the end of the follow-up period. Low viral loads may not be detected by current molecular methods, leading to wrong conclusions regarding viral clearance.
Acute eosinophilic ascites in a middle-aged man
Authors: Fadi Bleibel, Keith Fragoza, Garrey T Faller
Journal: Case Rep Gastrointest Med (2012)
MeSH terms: Case Reports

Eosinophilic gastroenteritis is a rare condition characterized by recurrent eosinophilic infiltration of portions of the GI tract and presenting with nonspecific GI symptoms in association with peripheral eosinophilia. Its etiology and pathogenesis remain unclear and its symptoms overlap with many GI and systemic diseases. Thus, both gastroenterologists and general internists need to be aware of this rare condition. We present a case of a 55-year-old male with diffuse abdominal pain and distention for two weeks. His physical examination was significant for moderate ascites. Initial work-up demonstrated severe peripheral blood eosinophilia, normal liver function tests, thickening of the stomach and small bowel wall, and elevated serum IgE. Upper endoscopy and extensive testing for malignancy and parasitic infections failed to establish a diagnosis. Ascitic fluid analysis showed significant eosinophilia. Further, a full-thickness jejunal showed marked eosinophilic infiltration of the serosa and muscularis propria. Subsequent treatment with oral prednisone resulted in normalization of laboratory and radiologic abnormalities in a few week period.
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation
Authors: Laura Mauring, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Jean Muller
Journal: Front Genet (2020)
Keywords: alms1 gene, alström syndrome, de novo variation, high throughput sequencing, retinal dystrophy
MeSH terms: Case Reports

Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however, early-onset progressive retinal degeneration affecting both cones and rods (cone-rod type) is universal, leading to blindness by the teenage years. Other features include cardiomyopathy, kidney dysfunction, sensorineural deafness, and childhood obesity associated with hyperinsulinemia and type 2 diabetes mellitus. Here, we present an unusual and delayed retinal dystrophy phenotype associated with ALMS in a 14-year-old female, with affected cone function and surprising complete preservation of rod function on serial electroretinograms (ERGs). High-throughput sequencing of the affected proband revealed compound heterozygosity with two novel nonsense variations in the ALMS1 gene, including one variant of de novo inheritance, an unusual finding in autosomal recessive diseases. To confirm the diagnosis in the context of an unusually mild phenotype and identification of novel variations, we demonstrated the biallelic status of the compound heterozygous variations (c.[286C > T];[1211C > G], p.[(Gln96*)];[(Ser404*)]). This unique case extends our knowledge of the phenotypic variability and the pathogenic variation spectrum in ALMS patients.
Limb girdle muscular dystrophy: a case report initially presenting to an outpatient musculoskeletal physiotherapy clinic with spinal pain and functional weakness
Authors: Simon O'Shea, Thomas M Jenkins
Journal: Arch Physiother (2019)
Keywords: back pain, limb girdle muscular dystrophy, weakness
MeSH terms: Case Reports

Background:
The term limb girdle muscular dystrophy (LGMD) describes a group of genetic muscular disorders that require specialist input from neurologically trained clinicians. The plethora of potential symptoms of this heterogenous group can result in patients presenting initially to musculoskeletal (MSK) physiotherapists.
Case presentation:
The following case report highlights the presentation of a 21 year old female attending with 2 years of spinal pain and an unusual pattern of weakness, namely when rising from a sitting position the hips were abducted and then internally rotated. Formal testing in clinic revealed no isolated weakness initially despite the odd functional movements. There were no neural limb pains and no upper or lower motor neuron concerns on testing. There were no other health concerns. Some gains were reported with recent physiotherapy strengthening exercises and these were persisted with but proved ineffective overall. The Biopsychosocial model was used judiciously to explore alternative pathologies and led to appropriate investigations, onward referral, diagnosis and appropriate management of LGMD. Extensive atrophy of the spinal muscles was evident on imaging which was not particularly identified within the physiotherapy testing process in the earlier stages. Creatine kinase levels were also significantly raised.
Conclusions:
Being mindful of this novel presentation in musculoskeletal clinics may well aid future, similar cases to be identified. The case highlights the importance of looking at the functional impact as opposed to traditional testing methods especially in the early stages of such conditions.
Treatment of Class III Malocclusion: Atypical Extraction Protocol
Authors: Fernando Pedrin Carvalho Ferreira, Maiara da Silva Goulart, Renata Rodrigues de Almeida-Pedrin, Ana Claudia de Castro Ferreira Conti, Maurício de Almeida Cardoso
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

The treatment of Angle Class III malocclusion is rather challenging, because the patient's growth pattern determines the success of long-term treatment. Early diagnosis and treatment are still highly discussed issues in orthodontic literature. This type of early intervention has been indicated more frequently in order to eliminate primary etiological factors and prevent an already present malocclusion from becoming severe. However, when a patient is diagnosed in adulthood, manipulation of the bone bases becomes extremely limited, as there is no longer any potential for growth. Treatments are restricted to dental compensations when possible or orthognathic surgery. However, owing to the high cost and inherent risk of the surgical procedure, this treatment option is often denied by the patient; in such a case, the orthodontist has little choice but to perform, where possible, compensatory treatments to restore a functional occlusion and improve facial esthetics. This article reports a case of Class III malocclusion in a patient who opted for compensatory treatment with lower molar extraction that allowed for correction of the midline and the overjet. Good facial esthetics and functional normal occlusion were achieved at the end of the treatment.