OpenMed/multicare-articles huggingface dataset:
Treatment of Complete Anal Stricture after Diverting Colostomy for Fournier's Gangrene
Authors: Kenji Okumura, Tadao Kubota, Kazuhiro Nishida, Alan Kawarai Lefor, Ken Mizokami
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

Background. Anal stenosis is a rare but serious complication of anorectal surgery. Severe anal stenosis is a challenging condition. Case Presentation. A 70-year-old Japanese man presented with a ten-hour history of continuous anal pain due to incarcerated hemorrhoids. He had a history of reducible internal hemorrhoids and was followed for 10 years. He had a fever and nonreducible internal hemorrhoids surrounding necrotic soft tissues. He was diagnosed as Fournier's gangrene and treated with debridement and diverting colostomy. He needed temporary continuous renal replacement therapy and was discharged on postoperative day 39. After four months, severe anal stenosis was found on physical examination, and total colonoscopy showed a complete anal stricture. The patient was brought to the operating room and underwent colostomy closure and anoplasty. He recovered without any complications. Conclusion. We present a first patient with a complete anal stricture after diverting colostomy treated with anoplasty and stoma closure. This case reminds us of the assessment of distal bowel conduit and might suggest that anoplasty might be considered in the success of the colostomy closure.
Differentiated-Type Intraepithelial Neoplasia-Like Lesion Associated with Squamous Cell Carcinoma of the Anus: A Case Report with Molecular Profile
Authors: Caroline Koopmansch, Calliope Maris, Pieter Demetter, Jean Van de Stadt, Alain Hendlisz, Nicky D'Haene, Jean-Christophe Noël
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Differentiated-type Intraepithelial Neoplasia (DIN) is defined as HPV-negative squamous intraepithelial proliferation with abnormal keratinocyte differentiation and basal cell atypia, originally described in the vulva, with following descriptions in the oral cavity. DIN occurring in the anus is quite rare, and to the best of our knowledge, only one publication reported it. In this report, we describe the clinicopathological features of this entity on anal margin, associated with invasive squamous cell carcinoma. In addition, using the next generation sequencing (NGS) technique, we have demonstrated TP53 mutation in the invasive component but not in the associated DIN-like lesion, where p53 immunohistochemical expression was restricted to basal layers.
Acinetobacter lwoffii Peritonitis in a Patient on Automated Peritoneal Dialysis: A Case Report and Review of the Literature
Authors: Murat Yasar Tas, Meral Merve Oguz, Mevlut Ceri
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

Acinetobacter lwoffii, a nonfermentative gram-negative aerobic bacillus, which presents in the normal flora of the oropharynx and skin, has recently been reported as a cause of human infection. Herein, the authors present a case report of peritonitis related to automated peritoneal dialysis caused by A. lwoffii.
Dropped Head Syndrome Treated with Physical Therapy Based on the Concept of Athletic Rehabilitation
Authors: Toshio Mori, Kentaro Mataki, Yukiyo Shimizu, Kai Matsuba, Kosei Miura, Hiroshi Takahashi, Masao Koda, Hiroshi Kamada, Masashi Yamazaki
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Patients with dropped head syndrome (DHS) show severe cervical kyphosis, i.e., chin-on-chest deformity, and their activities of daily living are impaired considerably. However, the therapeutics for DHS, especially conservative treatment, have not been fully established. A 75-year-old woman suffered from DHS, which she developed from neck pain due to cervical spondylosis. Examinations showed atrophy and dysfunction of her cervical extensor muscles. For this patient, we created a special program of physical therapy based on the concept of athletic rehabilitation and provided her the athletic rehabilitation-based physical therapy (AR-PT). After starting AR-PT, the patient's neck pain was relieved. She recovered from DHS, and the atrophy of her cervical extensor muscles improved. This study suggests that our program of AR-PT improves cervical extensor muscle insufficiency in patients with DHS and corrects their cervical kyphosis.
Budd-Chiari syndrome due to hepatic venous web outflow obstruction: percutaneous treatment with balloon angioplasty
Authors: Patrick Bastos Metzger, Kamilla Rosales Costa, Simone Lessa E Silva, Valter Ribeiro Dos Santos, Vinicius Nunes, Murilo Quadro Berbert Freire, Milton Oliveira de Albuquerque Mello
Journal: J Vasc Bras (2021)
Keywords: budd-chiari syndrome, angioplasty, endovascular procedures, venous thrombosis
MeSH terms: Case Reports

The Budd-Chiari syndrome is a rare hepatic venous disease. It is more prevalent in young adults and may present in acute, subacute, or chronic forms, causing portal hypertension. Traditional treatment consists of thrombolysis techniques and transjugular intrahepatic portosystemic shunt, as a bridge to liver transplantation. Recently, use of balloon or stent angioplasty techniques has been reported for treatment of this condition. In this article, we report and discuss a case of BCS by membranous obstruction in the hepatic vein outflow tract, with middle hepatic vein thrombosis, in a 24-year-old patient. The treatment chosen and employed was transjugular balloon angioplasty, which achieved satisfactory results and good clinical evolution.
Case report: Neonatal case of intrauterine gastrointestinal bleeding with suspected cow's milk allergy or neonatal transient eosinophilic colitis
Authors: Keisuke Hoshi, Takeo Mukai, Keiichi Kumasawa, Naoto Takahashi
Journal: Front Pediatr (2023)
Keywords: fetal gastrointestinal bleeding, food allergy, honeycomb sign, neonatal transient eosinophilic colitis, non-ige-mediated gastrointestinal food allergy, premature infants
MeSH terms: Case Reports

The patient was a female newborn. Ultrasonography performed at 35 weeks and 3 days of gestation revealed honeycomb-like dilatation and peri-intestinal strong echo patterns in the gastrointestinal tract. Nonreassuring fetal status was also diagnosed, leading to an emergency Cesarean section. The baby's birth weight was 2,127 g, whereas the Apgar 1 min and 5 min scores were 8 and 9, respectively. The amniotic fluid showed fecal and hematogenous turbidity. After delivery, there was hematogenous intragastric residue and defecation. Thereafter, the bloody intragastric residue and fecal discharge improved. Aggregations of eosinophils in the stool were observed, and gastrointestinal allergy was suspected. Enteral feeding with the hydrolyzed protein formula was initiated and symptoms did not recur. The allergen-specific lymphocyte stimulation test was positive for lactoferrin, and the patient was suspected with neonatal cow's milk allergy or neonatal transient eosinophilic colitis. After her condition stabilized, an oral challenge test was performed using breast milk without dairy products, and the test was negative. Gastrointestinal allergy is rare even in utero, and when gastrointestinal bleeding is suspected in utero, hemorrhagic or surgical gastrointestinal diseases should be ruled out first; however, the possibility of gastrointestinal allergy should also be kept in mind.
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
Authors: Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen, Yiping Shen
Journal: Mol Cytogenet (2016)
Keywords: maternal uniparental disomy 14, mosaicism, snp array, upd(14)mat
MeSH terms: Case Reports

Background:
Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported.
Case presentation:
Here we reported a case of concomitant UPD(14)mat and mosaic trisomy 14 in a 10-year-old Chinese patient. Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty. SNP array analysis revealed a mixture of chromosome 14 maternal isodisomy with heterodisomy and a low level trisomy mosaicism of whole chromsome 14 in blood and hyperpigmented skin samples, whereas only UPD(14)mat was detected in normal skin sample. Cytogenetic analysis identified one trisomy 14 cell in 100 metaphase of peripheral blood lymphocytes (47,XX, +14[1]/46,XX[99]).
Conclusions:
To our knowledge, this is the first case of a patient with UPD(14)mat and mosaic trisomy 14 reported in a Chinese patient. The definitive genetic diagnosis is beneficial for genetic counseling and clinical management of our patient, and for improving our understanding of the genotype-phenotype correlations of concomitant UPD(14)mat and mosaic trisomy 14.
Delayed Interval Delivery in Preterm Premature Rupture of Membranes in Dichorionic Triamniotic Triplets: Ethical Considerations for Maternal Health Case Report
Authors: Ali Hosiani, James Brown, Indika T Alahakoon
Journal: Case Rep Obstet Gynecol (2022)
MeSH terms: Case Reports

Background:
Although there are numerous studies on delayed interval delivery in twins, this study is one of few reporting on preterm premature rupture of membranes in triplets and even fewer on dichorionic triamniotic triplet twins. The case presented here highlights the important interplay between informed consent and patient autonomy. Case Presentation. A 37-year-old woman gravida 1, para 0 with a dichorionic triamniotic triplet pregnancy experienced preterm premature rupture of membranes of the singleton triplet at 15 weeks and six days of gestation. Delayed interval delivery was offered to the parents, who chose to continue the pregnancy while acknowledging the risks for maternal and foetal health. The patient was treated with prophylactic intravenous antibiotics and discharged on oral antibiotics after an eight-day admission. Two days after being discharged, she was readmitted with clinical signs of chorioamnionitis. Within six hours, the preterm premature rupture of membranes singleton was delivered. Three days later, she again presented to the hospital with preterm premature rupture of membranes of one of the dichorionic twins. After discussion with the maternal foetal medicine team, the parents chose to terminate the pregnancy. Delayed interval delivery was not successful in this patient, and it is unclear at which gestational age it is too early to offer expectant management.
Conclusions:
The case affirmed the very poor foetal survival rate when the first delivery occurs at under 20 weeks' gestation. A standardised management of delayed interval delivery should be established to assist with consistent parental counselling.
Co-occurrence of myeloid neoplasm and plasma cell neoplasm
Authors: Husam Jum'ah, Yan Wang, Salman Ayub
Journal: Autops Case Rep (2022)
Keywords: bone marrow, monoclonal gammopathy of undetermined significance, myelodysplastic syndromes, pancytopenia, smoldering multiple myeloma
MeSH terms: Case Reports

Co-occurrence of myelodysplastic syndrome (MDS) and plasma cell neoplasm in patients with no history of chemo and/or radiotherapy is rarely reported. Herein, we report a case of a female in her seventieth decade of life who was referred to the hospital for pancytopenia. The patient was asymptomatic and was doing well overall. Serum protein electrophoresis was remarkable for a lambda-restricted monoclonal protein (IgG) estimated at 1.8g/dL. Immunoglobulin G serum level was also elevated, and serum Kappa/Lambda free light chain ratio was decreased. At that time, a bone marrow biopsy showed myelodysplastic syndrome with excess blasts-2 (MDS-EB2) and a monoclonal plasma cell proliferation. Some studies have shown that patients with plasma cell neoplasm could be associated with an increased risk of developing MDS compared to the general population. Based on reviewing the literature, to our knowledge, the pathological mechanism of the co-occurrence of both diseases is not yet clear.
Mapping Women's Community Sport Participation to Inform Sport Development Initiatives: A Case Study of Row Ontario
Authors: Kyle A Rich, Emily Moore, Jeffrey Boggs, Ann Pegoraro
Journal: Front Sports Act Living (2022)
Keywords: case study, gender, geography, rural, spatial analysis, sport development

Using a spatial analysis methodology, we analyzed sport participation through membership data of a Provincial Sport Organization (PSO) in Ontario, Canada. Specifically, our analysis brings attention to the participation of women and girls in Row Ontario and the urban and rural nature of the PSO's membership. This research was conducted in partnership with the PSO to provide insights into how contextual factors influence sport participation and how these findings can inform future sport development efforts. Our results demonstrate that women and girls represented the majority of participants within the PSO and highlight an opportunity to use participant centered approaches for sport development to grow women and girls' participation. This is a promising outcome as women and girls are generally underrepresented in sport and may face greater participation barriers in rural contexts.
Internal Jugular Venous Pseudoaneurysm in a Patient with Heart Failure and Severe Tricuspid Regurgitation
Authors: Sujoy Phookan, Patrick T Strickland, Bishoy Hanna, Gregory R Hartlage, Ankit Parikh, Stephen D Clements Jr
Journal: Case Rep Vasc Med (2017)
MeSH terms: Case Reports

The differential diagnosis of a lateral neck mass includes a number of possible etiologies. While jugular venous aneurysms and pseudoaneurysms are rare entities, they should be considered in the differential diagnosis of a pulsatile lateral neck mass. We present a case of an idiopathic jugular venous pseudoaneurysm and its association with worsening tricuspid regurgitation in a patient with heart failure with preserved ejection fraction.
Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome
Authors: Zexi Yin, Xin Tian, Runying Zou, Xiangling He, Keke Chen, Chengguang Zhu
Journal: Front Immunol (2021)
Keywords: ebv, pik3cd gene, activated phosphoinositide 3-kinase δ syndrome, children, plasmablastic lymphoma
MeSH terms: Plasmablastic Lymphoma / immunology, Primary Immunodeficiency Diseases / complications, Case Reports, Research Support, Non-U.S. Gov't, Child, Preschool, Class I Phosphatidylinositol 3-Kinases, Female, Hematopoietic Stem Cell Transplantation / methods, Humans, Plasmablastic Lymphoma / therapy, Class I Phosphatidylinositol 3-Kinases, Activated PI3K-delta Syndrome

Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by acquired gene function mutation (GOF). APDS has a variety of clinical phenotypes, particularly recurrent respiratory infections and lymphoproliferation. Here we report a pediatric patient with APDS who presented with recurrent respiratory infections, lymphoproliferation, hepatosplenomegaly, bronchoscopy suggesting numerous nodular protrusions in the airways and a decrease in both T and B lymphocytes, and progression to plasmablastic lymphoma (PBL) after 1 year. Whole exome sequencing revealed a heterozygous mutation in the PIK3CD gene (c.3061 G>A p.E1021K). This is the first reported case of APDS combined with PBL and pediatricians should follow up patients with APDS regularly to be alert for secondary tumours.
Child Who Presented with Facial Hematohidrosis Compared with Published Cases
Authors: Ali Jafar, Ali Ahmad
Journal: Case Rep Dermatol Med (2016)

Hematohidrosis is a rare condition in which an individual sweats blood from intact, unbroken skin. The aetiology of hematohidrosis is not clear, although various theories exist to explain such a phenomenon. The general consensus however in the literature relates the finding to dermal capillary blood vessels that rupture under extreme emotional or physical stress exuding blood through the skin. In this case report we disclose a case of 12-year-old girl who presented with unusual painless bleeding from her face, eye, and tear duct. The condition was investigated intensively during hospital admission for a cause, and no actual cause was speculated. The management mostly involved supportive care and medical advice.
Enthesitis in a 16-Year-Old Boy with M694V Mutation
Authors: Syert Luidolf Nienhuis, Robin Eric Westerbeek
Journal: Case Rep Med (2016)

Introduction. FMF (Familial Mediterranean Fever) is characterized by recurrent attacks of fever and articular pain. Enthesitis is the hallmark of pain in spondyloarthropathy. Literature suggests association of M694V mutation and enthesitis. We report a case of a 16-year-old boy with enthesitis and FMF. Case Presentation. A 16-year-old boy of Turkish origin with a history of FMF presented with localized tenderness of the heel and severe disability. MRI showed an enthesitis of the plantar fascia. Standard treatment of FMF and enthesitis was not successful. After referral to a university hospital and expert opinion of a professor in rheumatology, this enthesitis should be treated as an enthesitis related arthritis. With this treatment, our patient fully recovered 8 months after the onset of the disease symptoms. Conclusion. M694V mutation related enthesitis should be considered in FMF patients with enthesitis. We would suggest treatment for enthesitis related arthritis in similar cases. This is of clinical importance because the treatment is different from treatment of enthesitis or articular pain caused by FMF.
A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy
Authors: P A Chausova, O P Ryzhkova, G E Rudenskaya, V B Chernykh, O A Shchagina, A V Polyakov
Journal: Front Genet (2021)
Keywords: lama2, mps, congenital muscular dystrophy, merosine, merosine deficient congenital muscular dystrophy, molecular diagnostics, mosaicism
MeSH terms: Case Reports

Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue. The type of inheritance of this disease is autosomal recessive. De novo variants with this type of inheritance are rare, and it is quite possible that the de novo variant may hide a mosaic form in the parent of an affected child. We present a birth family with two affected children who inherited a previously undescribed pathogenic variant c.1755del from their mother and a previously described pathogenic variant c.9253C > T in the LAMA2 gene from their mosaic father. LAMA2 gene mutation analysis was performed by mass parallel sequencing and direct sequencing of genomic DNAs.
Guide catheter-induced aortic dissection complicated by pericardial effusion with pulsus paradoxus: a case report of successful medical management
Authors: Magdalene Fiddler, Sriya A Avadhani, Jonathan D Marmur
Journal: Case Rep Med (2015)

Aortic dissection is a rare but potentially fatal complication of percutaneous coronary intervention (PCI). Management strategies of PCI induced dissection are not clearly identified in literature; such occurrences often mandate surgical repair of the aortic root with reimplantation of the coronary arteries. Another trend seen in case reports is the use of coronary-aortic stenting if such lesions permit. Several factors impact the management decision including the hemodynamic stability of the patient; mechanism of aortic injury; size, severity, and direction of propagation of the dissection; presence of an intimal flap; and preexisting atherosclerotic disease. We describe a case of a 65-year-old woman who underwent PCI for a chronic right coronary artery (RCA) occlusion, which was complicated by aortic dissection and pericardial effusion. Our case report suggests that nonsurgical management may also be appropriate for PCI induced dissections, and potentially even those associated with new pericardial effusion.
Simultaneous Coexistence of Thyrotropin-Prolactin-Secreting Adenoma and Papillary Thyroid Carcinoma
Authors: Somaya Safi, Yousra Benabdelfedil, Sara Derrou, Faycal El Guendouz
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Background:
The thyrotropin-secreting adenomas are very rare and even more rare when they simultaneously coexist with thyroid carcinoma. So far, only sixteen cases have been reported in the literature. Here, we present a unique case of successful management of a concurrent case of thyrotropin-prolactinoma with papillary thyroid carcinoma. Case Presentation. A 50-year-old Moroccan woman underwent a total thyroidectomy and complementary totalization by iratherapy for papillary thyroid carcinoma, who presented persistence of an inappropriate secretion of the thyroid-stimulating hormone (TSH > 4 mUI/L) despite of levothyroxine suppressive therapy (300 μg/d). After eliminating noncompliance, interfering medicines, and thyroid malabsorption, a pituitary adenoma (12 mm) was documented at magnetic resonance imaging. The patient has had transsphenoidal pituitary adenomectomy with histology confirming a thyrotropin-prolactin-secreting adenoma. After surgery and lanreotide treatment failures, we noted a complete response (TSH < 0.5) with cabergoline treatment (3 mg/week).
Conclusion:
The unusual association of thyroid adenocarcinoma and TSHoma enriches the hypothesis of a potential link between thyrotropic hypersecretion and thyroid carcinogenesis. Our case also illustrates the difficulty of monitoring thyroid carcinoma in nonremission of a TSHoma.
Myocardial amyloidosis following multiple myeloma in a 38-year-old female patient: A case report
Authors: Qisi Zhang, Yingli Qiao, Dongmei Yan, Yuhui Deng, Mengyang Zhang, Poshi Xu
Journal: Open Med (Wars) (2020)
Keywords: amyloidosis, case report, multiple myeloma, young-aged woman
MeSH terms: Case Reports

Multiple myeloma (MM) is an immunoglobulin-producing tumor of plasma cells, which occurs commonly in the elderly. The incidence of myocardial amyloidosis with MM is extremely low and early clinical manifestations are nonspecific. The diversity of clinical manifestations and first episode symptoms often cause misdiagnosis in young patients with myocardial amyloidosis following MM. In this study, we analyzed the clinical data of a young woman with MM and impaired cardiac function combined with echocardiography, electrocardiography (ECG), laboratory data, cell Congo Red staining, and other manifestations to diagnose amyloidosis. Considering the rapid progression, short survival, and poor prognosis in most patients, a clear, definitive, and timely diagnosis is essential for the treatment of patients with MM complicated with myocardial amyloidosis.