OpenMed/multicare-articles huggingface dataset:
Tropical diabetes hand syndrome with autoamputation of the digits: case report and review of literature
Authors: Taiwo Hussean Raimi, Oluwole Ojo Alese
Journal: Pan Afr Med J (2014)
Keywords: hand infection, diabetes, outcome
MeSH terms: Cellulitis / etiology, Diabetes Complications / physiopathology, Hand Deformities, Acquired / etiology, Klebsiella Infections / complications, Skin Ulcer / etiology, Case Reports, Review, Adult, Blood Glucose / analysis, Cellulitis / microbiology, Diabetes Complications / blood, Diabetes Mellitus, Type 2 / complications, Female, Humans, Medicine, African Traditional, Platelet-Derived Growth Factor / therapeutic use, Risk Factors, Skin Ulcer / drug therapy, Wound Infection / etiology, Blood Glucose, Platelet-Derived Growth Factor

The tropical diabetes hand syndrome is a complication affecting patients with diabetes mellitus in the tropics, and consists of localized cellulitis, swelling and ulceration of the hands which may progress to fulminant sepsis and gangrene of the whole limb. It is associated with a poor outcome. We report a 32 year old woman with tropical diabetes hand infection with autoamputation of the digits, review the relevant literature, and highlight the need for prevention and early hospital presentation in diabetics with hand infection, in order to prevent potentially crippling or fatal complications.
Hyperbaric Oxygen as an Adjunctive Therapy Postfasciotomy for Unilateral Supraspinatus Rhabdomyolysis and Compartment Syndrome
Authors: G Hoy, C Hasenkam, A Fock, C McLean
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

We present a case of severe supraspinatus muscle rhabdomyolysis following overexertion in a young male. Preexisting risk factors included illicit drug use. Even single muscle rhabdomyolysis can cause significant renal failure, and in our case the use of intravenous flushing was used in conjunction with hyperbaric oxygen after muscle compartment fasciotomy to maximize muscle recovery and renal protection in a manual worker (musician). Clinicians should be alert to severe muscle pain requiring narcotics after strenuous use.
Importance of a Rapid and Accurate Diagnosis in Strongyloides Stercoralis and Human T-Lymphotropic Virus 1 Co-infection: A Case Report and Review of the Literature
Authors: Olga Quintero, Carolina A Berini, Carlos Waldbaum, Alejandra Avagnina, María Juarez, Silvia Repetto, Juan Sorda, Mirna Biglione
Journal: Front Microbiol (2017)
Keywords: htlv-1, pcr, th1, corticosteroids, strongyloidiasis
MeSH terms: Case Reports

Strongyloides (S.) stercoralis and Human T-Lymphotropic Virus 1 (HTLV-1) share some endemic regions such as Japan, Jamaica, and South America and are mostly diagnosed elsewhere in immigrants from endemic areas. This co-infection has not been documented in Argentina although both pathogens are endemic in the Northwest. We present a case of S. stercoralis and HTLV-1 co-infection with an initial presentation due to gastrointestinal symptoms which presented neither eosinophilia nor the presence of larvae in stool samples in a non-endemic area for these infections. A young Peruvian woman living in Buenos Aires attended several emergency rooms and finally ended up admitted in a gastroenterology ward due to incoercible vomiting, diarrhea, abdominal pain, fever, and weight loss. Gastrointestinal symptoms started 3 months before she returned to Argentina from a trip to Peru. She presented malnutrition and abdominal distension parameters. HIV-1 and other immunodeficiencies were discarded. The serial coproparasitological test was negative. Computed tomography showed diffuse thickening of duodenal and jejunal walls. At the beginning, vasculitis was suspected and corticosteroid therapy was initiated. The patient worsened rapidly. Skin, new enteral biopsies, and a new set of coproparasitological samples revealed S. stercoralis. Then, HTLV-1 was suspected and infection was confirmed. Ivermectin and albendazole were administrated, until the stool sample remained negative for 2 weeks. Larvae were not observed in fresh stool, Ritchie method, and agar culture 1 week post-treatment. Although she required initial support with parenteral nutrition due to oral intolerance she slowly progressed favorably. It has been highly recommended to include a rapid and sensitive PCR strategy in the algorithm to confirm Strongyloides infection, which has demonstrated to improve early diagnosis in patients at-risk of disseminated strongyloidiasis.
A Case of Immediate Hypersensitivity Reaction to Maltitol
Authors: Ana Rodríguez Trabado, Carmen Cámara Hijón, José Antonio García-Trujillo, Irene Magriz Trascón, Luis Miguel Fernández Pereira
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Background:
Maltitol is a sugar alcohol that is frequently used as a noncaloric sweetener, although it is also used as an excipient, a plasticizer in gelatin capsules, and an emollient. It has not been previously described as an agent involved in immediate hypersensitivity reactions.
Methods:
We report on an anaphylactoid reaction with pharyngeal occlusion suffered by a 60-year-old man after ingestion of a candy containing maltitol syrup. A prick-to-prick test was performed with the candy and maltitol powder. Other allergens were excluded as causative agents of the adverse reaction, although the patient refused to undergo an oral challenge test with the candy. A basophil activation test (BAT) was performed with maltitol powder, and a dose-response curve was generated. The test was also performed in 3 healthy controls.
Results:
Both prick-to-prick tests were negative. The result of the BAT was positive at all the concentrations tested in the patient's blood and negative in all the controls.
Conclusions:
The BAT can help to clarify the agents implicated in an adverse reaction and can reduce the risk involved in diagnosis. The BAT can also prove useful in the study of reactions caused by low-molecular-weight antigens, for which routine diagnostic tests are not feasible.
The use of pararectus approach for Type 3B Paprosky acetabular defect with intrapelvic cup migration. Case report
Authors: Mohammad K Abdelnasser, Ahmed A Khalifa, Yaser E Khalifa, Hatem M Bakr, Mohammad A Mahran, Mohammad A Moustafa, Ayman K Mohammad, Ahmed M Abdelaal
Journal: SICOT J (2019)

A case of Type 3B Paprosky acetabular defect with intrapelvic cup migration where anterior column plating and cup extraction was done through an abdominal pararectus approach. A male patient 63 years old reported progressive pain and walking disability after five years of cementless THR for right hip AVN. CT pelvis showed loose intrapelvic migrated cup, extensive osteolytic acetabular defects, and pelvic discontinuity. Pararectus approach was used to remove the cup and the head with concomitant plating of the anterior column Conclusion: The pararectus approach is a valid option for intrapelvic cup extraction and pelvic discontinuity fixation.
A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy
Authors: Mahpara Hasan, Gayatra Mainali, Ermal Aliu, Sita Paudel
Journal: Case Rep Genet (2022)
MeSH terms: Case Reports

Autosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function of the NSUN2 gene which encodes a methyltransferase involved in several biological processes, ranging from stress response to neurodevelopment (Hussain 2021). The current literature shows that MRT5 typically manifests with intellectual disability, facial dysmorphism, juvenile cataracts, chronic nephritis, hearing impairment, seizures, cerebellar atrophy, and microcephaly (Pingree et al. 2021). We describe a case of a patient with MRT5 who developed epilepsy in his teens, a rare clinical presentation that has not yet been discussed at length in the literature. Our patient is a 15-year-old male with a history of autism, developmental delay, and focal epilepsy who underwent genetic testing and was found to have a homozygous frameshift mutation in NSUN2 predicted to cause loss of function. This case emphasizes that epilepsy can be a phenotypic manifestation in patients with MRT5.
False Gastric Diverticulum Arising from the Pylorus Associated with Gastric Outlet Obstruction
Authors: Umesh Jayarajah, Oshan Basnayake, Pradeep Wijerathne, Jayan Jayasinghe, Nilesh Fernandopulle, Ishan De Zoysa
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

A gastric diverticulum is an outpouching from the stomach wall. It is usually seen in the posterior gastric wall and the gastric antrum. Diverticula arising from the pyloric region are extremely rare. A 59-year-old female presented with progressively worsening symptoms of gastric outlet obstruction associated with dyspepsia and vague abdominal pain for 5 years. A large, thin-walled, wide-mouthed, false gastric diverticulum (filled with undigested food) arising from the pylorus associated with gastric outlet stenosis was found by endoscopy and CT imaging. Multiple biopsies from the region excluded a gastric malignancy. A gastrojejunostomy and jejunojejunostomy were performed to bypass the obstruction which successfully relieved the symptoms. This is an unusual site for gastric diverticula, and when associated with gastric outlet obstruction, further distention of the diverticulum may cause more obstruction with worsening symptoms.
Anesthetic Management of a Patient with a Giant Pericardial Cyst Compressing the Right Atrium
Authors: Mohammad Hadi Gharedaghi, Saman Ahmadi, Arjang Khorasani, Farzad Ebrahimi
Journal: Case Rep Anesthesiol (2019)
MeSH terms: Case Reports

Pericardial cysts are rare mediastinal cysts composed of a single fluid-filled mesothelial layer and can be congenital in origin or develop secondary to pericarditis, trauma, or infection. Although most pericardial cysts are asymptomatic, life-threatening complications can occasionally occur. We report on a 57-year-old man with an asymptomatic 9 cm pericardial cyst that was incidentally found as an abnormal cardiac silhouette on routine chest radiography. Further imaging confirmed the presence of a pericardial cyst that was compressing the right atrium. The patient underwent successful video-assisted thoracoscopic removal of the pericardial cyst under general anesthesia. The patient's postoperative course was uneventful and he was discharged on postoperative day 1 in a stable condition. To our knowledge, this is the first report regarding the anesthetic management of a patient with a giant pericardial cyst undergoing thoracic surgery. Knowledge regarding the perioperative challenges associated with the removal of pericardial cysts can prevent complications and improve patient outcomes.
Hydralazine-induced anti-neutrophil cytoplasmic antibody-positive renal vasculitis presenting with a vasculitic syndrome, acute nephritis and a puzzling skin rash: a case report
Authors: Justin Keasberry, Jeremy Frazier, Nicole M Isbel, Carolyn L Van Eps, Kimberley Oliver, David W Mudge
Journal: J Med Case Rep (2013)

Introduction:
Anti-neutrophil cytoplasmic antibody-associated vasculitis has been associated with many drugs and it is a relatively rare side effect of the antihypertensive drug hydralazine. The diagnosis and management of patients who have anti-neutrophil cytoplasmic antibody-associated vasculitis may be challenging because of its relative infrequency, variability of clinical expression and changing nomenclature. The spectrum of anti-neutrophil cytoplasmic antibody-associated vasculitis is wide and can be fatal. This case documents a 62-year-old woman who presented with hydralazine-induced anti-neutrophil cytoplasmic antibody-positive renal vasculitis with a puzzling cutaneous rash.
Case presentation:
We report a rare case of hydralazine-induced anti-neutrophil cytoplasmic antibody-associated vasculitis in a 62-year-old Caucasian woman who presented with a vasculitic syndrome with a sore throat, mouth ulcers and otalgia after several months of constitutional symptoms. She then proceeded to develop a rash over her right lower limb. Clinically, the rash had features to suggest Sweet's syndrome, but also had some appearances consistent with embolic phenomena and did not have the appearance of palpable purpure usually associated with cutaneous vasculitis. Differential diagnoses were hydralazine-associated Sweet's syndrome, streptococcal-induced cutaneous eruption or an unrelated contact dermatitis. A midstream urine sample detected glomerular blood cells in the setting of anti-neutrophil cytoplasmic antibody-positive renal vasculitis and Streptococcus pyogenes bacteremia. A renal biopsy revealed a pauci-immune, focally necrotizing glomerulonephritis with small crescents. Her skin biopsy revealed a heavy neutrophil infiltrate involving the full thickness of the dermis with no evidence of a leucocytoclastic vasculitis, but was non-specific. She was initially commenced on intravenous lincomycin for her bloodstream infection and subsequently commenced on immunosuppression after cessation of hydralazine. The patient was subsequently discharged from hospital after a rapid clinical improvement.
Conclusion:
Hydralazine-induced anti-neutrophil cytoplasmic antibody-positive renal vasculitis is a rare adverse effect and can present with a severe vasculitic syndrome with multiple organ involvement. Features of this association include the presence of high titres of anti-myeloperoxidase-anti-neutrophil cytoplasmic antibody with multi-antigenicity, positive anti-histone antibodies and the lack of immunoglobulin and complement deposition histopathogically. A rash that is characteristic of Sweet's syndrome has also been described as an association. Prompt cessation of hydralazine may be sufficient to reverse disease activity but immunosuppression may be needed for definite treatment.
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China
Authors: Jianli Zhou, Yuzhen Zhao, Xia Qian, Yongwei Cheng, Huabo Cai, Moxian Chen, Shaoming Zhou
Journal: Front Pediatr (2021)
Keywords: case report, congenital, gene, mutation, sucrase-isomaltase deficiency
MeSH terms: Case Reports

Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually being identified and reported. Case Presentation: We report a case involving a 14-month-old male who presented with failure to thrive that had begun after food diversification and was admitted for chronic diarrhea. We used a whole-exome sequencing (WES) approach to identify mutations in this patient's genome. WES revealed two novel heterozygous mutations in the SI gene, c.2626C > T (p.Q876*) and c.2872C > T (p.R958C), which were confirmed by Sanger DNA sequencing. With a strict sucrose- and starch-restricted diet, the patient's diarrhea was resolved, and he began to gain weight. Conclusions: We report a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China.
Efficacy for the Annual Relapse Rate after the Immunosuppressive Therapy in Patients Associated with Anti-AQP4 or Anti-MOG Antibody-Positive Optic Neuritis
Authors: Sotaro Mori, Takuji Kurimoto, Yusuke Murai, Kaori Ueda, Mari Sakamoto, Norio Chihara, Yuko Yamada-Nakanishi, Makoto Nakamura
Journal: J Ophthalmol (2020)

Purpose:
Although oral prednisolone is the first-line treatment for preventing recurrent optic neuritis (ON) after the completion of acute-phase treatment, especially anti-aquaporin 4 (AQP4) antibody-positive ON, and anti-myelin oligodendrocyte glycoprotein (MOG) antibody-positive ON, some patients experience relapses. Immunosuppressants could be effective in reducing the recurrence rate for neuromyelitis optica spectrum disorder and MOG antibody-related diseases, but there have been few studies addressing this issue focusing on the changes in ophthalmic parameters. The objective of the study was to analyze the impact of off-label uses of immunosuppressants to reduce recurrent ON.
Design:
Retrospective observational study, clinical case series.
Methods:
We reviewed the medical charts of 11 cases (22 eyes) who underwent immunosuppressive therapy in Kobe University Hospital and compared the annualized relapse rate (ARR) before and after immunosuppressive therapy. We also evaluated the dosage of prednisolone, complications of immunosuppressants, and other visual functional ophthalmologic parameters.
Results:
Eleven cases in total had AQP4 antibody (9 cases) and/or MOG antibody (3 cases). One case was double positive for these antibodies. Nine patients received azathioprine and two received mycophenolate mofetil as an initial immunosuppressive therapy. The median duration of immunosuppressant treatment was 2.8 years. The median ON ARR before immunosuppressive therapy was 0.33, and this decreased significantly to 0 after the therapy (p = 0.02). The dose of prednisolone was reduced from 17.8 ± 7.1 mg/day before to 5.8 ± 2.2 mg/day after immunosuppressive therapy (p < 0.01). Although two patients presented with mild elevation of liver enzymes and nausea, all patients were able to continue taking the immunosuppressants.
Conclusions:
Immunosuppressants can potentially decrease relapses and steroid dosage in patients with anti-AQP4 or MOG antibody-positive ON without severe adverse events and the exacerbation of visual acuities.
The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis
Authors: Kate H Cole, Patrick R Sosnay, Lonny B Yarmus, Jonathan B Zuckerman
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We describe the case of a CF patient who was initially diagnosed at 16 years of age after presenting with mild respiratory compromise and pancreatic sufficiency. When genetic testing was first performed using a CF mutation panel, only a single F508del CFTR allele was identified. We subsequently performed testing, which revealed a previously unreported mutation: A457P (p.Ala457Pro, c.1369G>C). The patient's clinical course through adulthood is described, and genotype-phenotype correlation is discussed. The A457P mutation appears to confer a relatively mild phenotype, as is usually observed with CFTR class IV-VI defects. With the advent of more comprehensive and widely available genetic testing techniques, identification of CF genotypes in patients with milder disease variants may help stratify patients for targeted therapy and prevent late complications of the disease.
Bladder Cancer in HIV-infected Adults: An Emerging Issue? Case-Reports and Systematic Review
Authors: Sylvain Chawki, Guillaume Ploussard, Claire Montlahuc, Jérome Verine, Pierre Mongiat-Artus, François Desgrandchamps, Jean-Michel Molina
Journal: PLoS One (2015)
MeSH terms: HIV Infections / complications, HIV Infections / epidemiology, HIV Infections / pathology, HIV-1, Urinary Bladder Neoplasms / epidemiology, Urinary Bladder Neoplasms / pathology, Case Reports, Review, Systematic Review, Female, Hematuria / epidemiology, Hematuria / etiology, Humans, Male, Middle Aged, Retrospective Studies, Smoking / adverse effects, Smoking / epidemiology

Objectives:
Non-AIDS-related malignancies now represent a frequent cause of death among HIV-infected patients. Albeit bladder cancer is one of the most common malignancies worldwide, it has been rarely reported among HIV-infected patients. We wished to assess the prevalence and characteristics of bladder cancer in HIV-infected patients.
Methods:
We conducted a single center retrospective study from 1998 to 2013 in a university hospital in Paris. Cases of bladder cancer among HIV-infected patients were identified using the electronic records of the hospital database and of the HIV-infected cohort. Patient characteristics and outcomes were retrieved from patients charts. A systematic review of published cases of bladder cancers in patients with HIV-infection was also performed.
Results:
During the study period we identified 15 HIV-infected patients (0.2% of the cohort) with a bladder cancer. Patients were mostly men (73%) and smokers (67%), with a median age of 56 years at cancer diagnosis. Bladder cancer was diagnosed a median of 14 years after HIV-infection. Most patients were on ART (86%) with median current and nadir CD4 cell counts of 506 and 195 cells/mm3, respectively. Haematuria (73%) was the most frequent presenting symptom and HPV-associated lesions were seen in 6/10 (60%) patients. Histopathology showed transitional cell carcinoma in 80% and a high proportion of tumors with muscle invasion (47%) and high histologic grade (73%). One-year survival rate was 74.6%. The systematic review identified 13 additional cases of urothelial bladder cancers which shared similar features.
Conclusions:
Bladder cancers in HIV-infected patients remain rare but may occur in relatively young patients with a low nadir CD4 cell count, have aggressive pathological features and can be fatal.
Successful Removal of a Biliary Stent in the Jejunum Using Double-Balloon Enteroscopy
Authors: Arash Dooghaie Moghadam, Niloofar Razavi-Khorasani, Pegah Eslami, Sandra Saeedi, Ermia Farokhi, Bobak Moazzami, Azim Mehrvar, Shahrokh Iravani, Mahmood Reza Hashemi, Masoud Dooghaei Moghadam
Journal: Galen Med J (2020)
Keywords: bile duct, cholangiopancreatography, device removal, double-balloon enteroscopy, endoscopic retrograde, stents
MeSH terms: Case Reports

Background:
Plastic biliary stent placement has been widely used as a safe approach for the management of hilar neoplasms or the dilation of benign biliary obstruction. Despite the complexity of this procedure, this approach is followed by a few complications. The incidence rate of stent migration is about 10%. In a majority of cases, the migrated stents are retained within the gastrointestinal tract and pass through the intestine with no complication or need for medical intervention.
Case report:
In this paper, we described the case of the migrated biliary stent with prolonged abdominal pain, which was removed successfully by using double-balloon.
Conclusion:
In the case of patient with prolonged abdominal pain and previous history of biliary stent placement, migration of stent should be considered as differential diagnosis and Double-Balloon Enteroscopy can be a safe approach in those cases.
Morphoea with myositis: a rare association
Authors: Mary Sommerlad, Richard Bull, Claire Gorman
Journal: Case Rep Rheumatol (2011)
MeSH terms: Case Reports

In this case, we describe an unusual presentation of a young woman with a rash typical of morphoea (confirmed on biopsy), who went on to develop myositis in an atypical distribution. Although the association of myositis with diffuse systemic sclerosis is well described, the link with localised scleroderma (morphoea) and myositis has not been described.