OpenMed/multicare-articles huggingface dataset:
Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria
Authors: Erica Graff, Karl E Anderson, Cynthia Levy
Journal: Front Genet (2022)
Keywords: 5-aminolevulinic acid dehydratase, 5-aminolevulinic acid dehydratase deficiency porphyria, 5-aminolevulinic acid synthase, acute porphyria, givosiran, treatment
MeSH terms: Case Reports

Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdominal pain and peripheral neuropathy. Hemin infusions are often effective in treating and preventing such attacks. Givosiran was recently approved for prevention of attacks of acute hepatic porphyrias (AHPs), including ADP, but, to our knowledge, has not yet been applied in patients with this ultrarare disease. Case Description: We update the clinical course and report new treatment outcomes of a 32-year-old man with ADP managed for many years with weekly prophylactic hemin infusions. He has developed evidence of iron overload and was more recently found to have compensated cirrhosis. The patient was started on givosiran (Givlaari™, Alnylam), a small interfering RNA (siRNA) therapeutic that is effective in preventing frequently recurring attacks of acute intermittent porphyria (AIP), the most common type of AHP. Discussion: No adverse effects of givosiran on the liver were observed in this patient with cirrhosis during 6 months of treatment with givosiran. The patient has continued to have recurrent attacks, with transient decreases in ALA levels only as related to treatment of his attacks with hemin. Our experience limited to one patient with ADP suggests that givosiran may not be effective in this type of acute porphyria. Since ADP may have an erythropoietic component, treatment with hydroxyurea, which was beneficial in one previous case, is planned.
A case report of coronary arteriovenous fistulas with an unruptured coronary artery aneurysm successfully treated by surgery
Authors: Nobuhiro Takeuchi, Masanori Takada, Yoshiharu Nishibori, Takao Maruyama
Journal: Case Rep Cardiol (2012)

A 58-year-old female with a history of Wolff-Parkinson-White syndrome presented at our institution with palpitations and chest pain. Electrocardiography revealed paroxysmal supraventricular tachycardia with a heart rate of 188 beats/min. Antiarrhythmic drugs were ineffective, and tachycardia was resolved by electrical cardioversion. Transthoracic echocardiography revealed abnormal vessels around the right coronary artery (RCA) and pulmonary artery (PA); in addition, we suspected coronary arteriovenous fistula (CAVF). Coronary angiography and coronary computed tomography revealed dilated fistula vessels, with a 1 cm saccular aneurysm around the RCA, originating from the proximal RCA and left anterior descending artery into the main trunk of PA. Therefore, we confirmed the diagnosis of CAVF with an unruptured aneurysm. We surgically ligated and clipped the fistula vessels and resected the aneurysm. The resected aneurysm measured 1 × 1 cm in size. Pathological examination of the resected aneurysm revealed hypertrophic walls comprising proliferating fibroblasts cells thin elastic fibers. Very few atherosclerotic changes manifested in the aneurysm walls. We report the case of a patient with CAVF and an unruptured coronary artery aneurysm who was successfully treated by surgery.
Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia
Authors: Haihua Lin, Youhong Fang, Lin Han, Jie Chen, Jingan Lou, Jindan Yu
Journal: Front Genet (2021)
Keywords: glycerol-3-phosphate dehydrogenase 1, hepatic steatosis, hepatomegaly, hypohepatia, next-generation sequencing, transient infantile hypertriglyceridemia
MeSH terms: Case Reports

Transient infantile hypertriglyceridemia is a rare autosomal recessive disorder characterized by hypertriglyceridemia, hypohepatia, hepatomegaly, hepatic steatosis and fibrosis in infancy. Mutations in GPD1 gene are considered the causative factor but the underlying mechanism of this disorder is still enigmatic. To date, only 24 different GPD1 mutations have been reported in the literature worldwide with transient infantile hypertriglyceridemia or relevant conditions. Here we report a Chinese girl who developed hepatomegaly hepatic steatosis, elevated transaminase and hypertriglyceridemia from the age of 4 months. A novel homozygous variant c.454C>T (p.Q152*) was found in GPD1 gene by next-generation sequencing. This patient is the 3rd Asian reported with transient infantile hypertriglyceridemia. We summarized the clinical presentations of transient infantile hypertriglyceridemia and also expanded the spectrum of disease-causing mutations in GPD1.
Interstitial Emphysema as a Rare Radiographic Presentation of Bronchial Dehiscence after Lung Transplant
Authors: Linda P Vien, Robert M Marron, Abbas Charlie, Maruti Kumaran, James C Brown
Journal: Case Rep Pulmonol (2020)
MeSH terms: Case Reports

Airway complications after lung transplantation are a major cause of morbidity and mortality. Bronchial dehiscence presents within a month of lung transplantation and is typically diagnosed radiographically as a sentinel gas pocket at the anastomotic site and confirmed with bronchoscopy. A 66-year-old man with idiopathic pulmonary fibrosis who underwent a right lung transplantation 4 weeks prior developed chest pain with palpable crepitus over his right chest wall. A chest X-ray revealed subcutaneous emphysema and a small right-sided pneumothorax. Computed tomography (CT) of the thorax without contrast revealed a gas pocket at the anastomotic site in the mediastinum as well as interstitial emphysema around the proximal bronchi of the right lung that had worsened when compared to CT from 11 days prior. A review of prior CT demonstrated interstitial emphysema without evidence of a sentinel gas pocket. These findings suggest that interstitial emphysema was the initial radiographic manifestation of the bronchial anastomotic site dehiscence. Interstitial emphysema is typically self-limiting, but severe cases can lead to major complications. Interstitial emphysema outside of the immediate postoperative period should be recognized as a possible early radiographic sign of bronchial dehiscence in lung transplant patients with vigilant monitoring of potential complications and strong consideration for early bronchoscopic investigation.
de novo Histoid leprosy: an expatriate case recently diagnosed in Johannesburg
Authors: Margareth Ann Olivier, Deepak Modi, Ozge Gunduz
Journal: Rev Soc Bras Med Trop (2019)
MeSH terms: Leprosy / parasitology, Case Reports, Adult, Biopsy, Humans, Leprostatic Agents / therapeutic use, Leprosy / drug therapy, Male, Leprostatic Agents

Histoid leprosy (HL) is a rare variant of lepromatous leprosy with unique clinical, histopathological, and microbiological features. A 32-year-old man from Malawi who immigrated to Johannesburg 1-year-ago, presented with a 4-month history of flesh-colored nodules on the face and trunk and hyperpigmented plaques on the chest and limbs. Skin slit smears confirmed multibacillary leprosy, and skin punch biopsies showed proliferation of spindled cells containing a large number of acid-fast bacilli. The prevalence of de novo HL is increasing in the era of leprosy elimination. HL cases may act as reservoirs and negatively affect the global control of leprosy.
Case report: Recovery and sequential imaging of a patient with osmotic demyelination syndrome
Authors: Stephanie Harris, Adrien Dupanloup, Pen-Ting Liao, Tom Jukier
Journal: Front Vet Sci (2023)
Keywords: dog, extrapontine demyelination, magnetic resonance imaging, osmotic demyelinating syndrome, pontine myelinolysis, veterinary
MeSH terms: Case Reports

A 4-year-old neutered-male Australian Shepherd was presented to an emergency and referral hospital for an acute onset of neurologic signs and abnormal mentation. Seven days prior, the patient had been diagnosed with hypoadrenocorticism and was treated accordingly at another hospital. Based on recent clinical history, the neurologic signs were consistent with thalamic and brainstem deficits and suspected to be caused by osmotic demyelination syndrome secondary to rapid correction of hyponatremia. A brain MRI confirmed lesions consistent with osmotic demyelination syndrome. The patient's clinical signs initially worsened, and he required intensive nursing care with multimodal sedation, close monitoring of electrolytes and tailored fluid therapy. The patient recovered and was discharged on day seven of hospitalization. Four and a half months later, re-evaluation of the patient showed complete resolution of the neurological deficits with a now unremarkable neurological exam, and follow-up MRI revealed still present, yet improved bilateral thalamic lesions. This is the first known veterinary case report of sequential brain imaging of a dog that has recovered from osmotic demyelination syndrome. In humans, patients can have evidence of near to full clinical recovery, yet imaging findings may still be abnormal several months after recovery. This report details similar imaging findings in a canine with improved clinical signs, despite persistent lesions on brain MRI. Prognosis of canines with osmotic demyelination syndrome may be better than previously perceived, despite the severity of clinical signs and brain lesions apparent on MRI.
Genomic Profiling Reveals Synchronous Bilateral Lung Adenocarcinomas With Distinct Driver Alterations of EML4-ALK or TPM3-ROS1 Fusion: A Case Report
Authors: Benxu Tan, Xuan Jiang, Ruping Wang, Cuiping Tang, Sisi Liu, Xue Wu, Lei Xia, Xian Yu, Zhenzhou Yang
Journal: Front Oncol (2019)
Keywords: eml4-alk, tpm3-ros1, bilateral lung adenocarcinomas, next-generation sequencing, synchronous multiple primary lung cancers
MeSH terms: Case Reports

Background: ALK and ROS1 rearrangement accounts for 3-6% and 1-3% of non-small cell lung cancers, respectively, while coexistence of them in the same patient is extremely rare. Only three cases have ever been reported with concurrent ALK/ROS1 fusions in the same tumor indicating tumor heterogeneity. Therefore, comprehensive genetic profiling via next-generation sequencing (NGS) is needed to provide fully molecular diagnosis. Case Presentation: A 50-year old Chinese female with resectable stage IB bilateral lung adenocarcinomas (ADCs) harbored EML4 exon 6-ALK exon 19 and TPM3 exon 8-ROS1 exon 35 fusions in the right lower and the left upper tumors, respectively, identified by clinical NGS test targeting 425 cancer-relevant genes. The results were further confirmed at RNA level using RNA-seq. Genomic evolution analysis reveals that these bilateral tumors are synchronous multiple primary lung cancers with no shared somatic alterations for both genes and arm-level copy number variations (CNVs). No recurrence was observed during 12 months of post-surgery follow-up. Conclusions: Our case is the first report of concurrent ALK/ROS1 fusions as distinct driver events of synchronous multiple primary lung cancers, and highlights the importance of individual genetic testing for each of the multiple primary tumors for fully molecular diagnosis and precise treatment decision-making.
Successful Treatment of Recurrent Pulmonary Mucormycosis in a Renal Transplant Patient: A Case Report and Literature Review
Authors: Morgan S Martin, Alison A Smith, Monica Lobo, Anil S Paramesh
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

Background. We describe the unusual case of a recently transplanted cadaveric renal transplant recipient who presented with recurrent pulmonary mucormycosis. Case Report. An 18-year-old man with end stage renal disease secondary to congenital renal agenesis status after cadaveric kidney transplant 4 months before presented with acute onset of fever, hemoptysis, and back pain. The patient underwent an emergent left lower lobectomy due to the critical nature of his illness. He was also treated with amphotericin with resolution of his symptoms. One week later, he had evidence of recurrent disease on imaging with a surgical site infection. He underwent reexploration with evacuation of an empyema and debridement of a surgical site infection. He was continued on IV antifungal therapy with isavuconazonium and amphotericin. Radiographic clearance of disease with three months of treatment was apparent with no evidence of recurrence at seven-month follow-up. Discussion. Opportunistic infections in solid organ transplant patients represent a significant source of morbidity and mortality. Most patients are treated with prophylactic anti-infective agents. However, rare infections such as pulmonary mucormycosis remain a risk. The transplant physician must be aware of these uncommon infections and their treatment strategies, including the management of uncommon recurrent disease.
Thoracopagus conjoined twins: a case report
Authors: Mehmet A Osmanağaoğlu, Turhan Aran, Süleyman Güven, Cavit Kart, Ozgür Ozdemir, Hasan Bozkaya
Journal: ISRN Obstet Gynecol (2011)
MeSH terms: Case Reports

Objective. Conjoined twin is a rarely seen congenital anomaly together with severe mortality and morbidity. The more common types of conjoined twins include the thoracopagus type, where the fusion is anterior, at the chest, and involves the heart. We are reporting one case of conjoined thoracopagus twins diagnosed by ultrasonography at 11 weeks. Case Report. In a multigravid pregnant woman who has been admitted to our clinic with a diagnosis of conjoined twins, thoracopagus, by ultrasonography at an 11-week gestation, termination of the pregnancy was performed. Conclusion. Making an early diagnosis with ultrasonographic examination gives the parents a chance to elect pregnancy termination.
MiT family translocation renal cell carcinoma with retroperitoneal metastasis in childhood: a case report
Authors: Kaihang Yang, Yuhao Ma, Shuyang Dai, Rui Dong
Journal: Front Pediatr (2023)
Keywords: mit family translocation renal cell carcinoma, tfe3, xp112 translocation, partial nephrectomy (pn), retroperitoneal metastasis
MeSH terms: Case Reports

RCC accounts for only 0.1%-0.3% of all kidney tumors and 2%-6% of malignant kidney tumors in children. Accounting for approximately one-third of the total number of cases in children and adolescents with RCC, Xp11.2 tRCC is the most common subtype of the MiT family translocation renal cell carcinoma, which is a group of rare childhood and adult tumors, characterized by recurrent gene rearrangements of TFE3. Here we report a rare case of a 6-year-old male patient with MiT family translocation renal cell carcinoma (MiTF tRCC) where the patient developed retroperitoneal metastasis. The patient underwent partial nephrectomy (PN), radical nephrectomy (RN), abdominal lymph node resection, and intestinal adhesion lysis. Microscopically, we detected focal and nest clump-shaped clusters of tumor cells whose cytoplasm was bright and clear. Immunohistochemistry (IHC) showed tumor cells diffusely expressed TFE3, and fluorescence in situ hybridization (FISH) demonstrated disruption of the TFE3 locus, confirming the diagnosis of Xp11.2 tRCC, the most common subtype of MiTF tRCC. Eventually, the patient obtained a good therapeutic result. This case can provide a good reference and guidance for pediatric urologists and oncologists to recognize and diagnose rare renal cell carcinoma in children.
Hair Dye poisoning: "An early intervention"
Authors: Syed Farrukh Umair, Imrana Amin, Ata Urrehman
Journal: Pak J Med Sci (2018)
Keywords: creatine phosphokinase (cpk), paraphenylene diamine (ppd)
MeSH terms: Case Reports

The use of hair dye has been emerging worldwide however usage of Paraphenylenediamine (PPD) in making hair dye is generally restricted to underdeveloped and developing countries. In particular, prevalence of accidental and suicidal ingestion is more in low socioeconomic areas. The spectra of hair dye toxicity is wide, however, it presents more commonly with severe angioedema of face and neck leading to respiratory failure, rhabdomyolysis complicating into acute kidney injury, myocarditis and acute liver injury. Here we present a unique case of PPD poisoning in a young female presented with laryngeal edema and marked rhabdomyolysis. Preemptive shifting to Critical care unit and elective endotracheal intubation for air way patency obviated the need of tracheostomy and precluded its related complications. Moreover, aggressive intravenous hydration prevented from renal failure despite markedly raised Creatine phospho kinase (CPK) levels.
Hemophagocytic Lymphohistiocytosis Associated With Parvovirus B19 in a Patient With Acquired Immunodeficiency Syndrome
Authors: Precious Macauley, Mohammad Abu-Hishmeh, Carissa Dumancas, Vijay Alexander-Rajan, Fernando Piedra-Chavez, Khaled Nada, Imnett Habtes, Andrea Popescu, Aleksandra Mamorska-Dyga
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: hiv, hemophagocytic, lymphohistiocytosis, parvovirus
MeSH terms: AIDS-Related Opportunistic Infections / diagnosis, Lymphohistiocytosis, Hemophagocytic / virology, Parvoviridae Infections / complications, Parvovirus B19, Human, Case Reports, Acquired Immunodeficiency Syndrome / congenital, Dexamethasone / administration & dosage, Dexamethasone / therapeutic use, Drug Therapy, Combination, Etoposide / administration & dosage, Etoposide / therapeutic use, Female, Humans, Lymphohistiocytosis, Hemophagocytic / diagnosis, Lymphohistiocytosis, Hemophagocytic / drug therapy, Lymphohistiocytosis, Hemophagocytic / etiology, Parvoviridae Infections / diagnosis, Parvoviridae Infections / etiology, Parvoviridae Infections / virology, Young Adult, Etoposide, Dexamethasone

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by widespread inflammation due to massive immune activation and cytokine release. It is of 2 types, primary or familial and secondary or acquired. Diagnosis is made by fulfilling 5 of 8 criteria as determined by the Histiocyte Society. Treatment includes etoposide, dexamethasone, with or without intrathecal methotrexate in the presence of neurologic involvement as well as treating the underlying cause in secondary HLH. We present a case of a 23-year-old female with congenital human immunodeficiency virus (HIV) infection who presents with nonspecific signs and symptoms of cough, fever, leukopenia, and anemia, and a high-serum parvovirus B19 DNA, later diagnosed with HLH and treated with etoposide and dexamethasone. She made clinical improvements and was successfully discharged to home after 26 days of admission.
Delayed Urethral Obstruction after Migration of a Ballistic Pellet in an Alpine Wether
Authors: Joe S Smith, Adrien-Maxence Hespel, Jessica D Garcia, Krista L Lipe, Stephanie A Kleine, Pierre-Yves Mulon
Journal: Case Rep Vet Med (2023)
MeSH terms: Case Reports

A one-year-old alpine wether was presented for emergency evaluation of stranguria. Diagnostics identified a moderately distended bladder and mild dehydration. Preliminary lateral radiographs identified two metallic structures consistent with projectile pellets in the pelvic and perineal regions and no evidence of radiopaque uroliths. A tube cystostomy was performed, and a contrast urethrogram revealed one of the pellets in the perineal region was in proximity to the urethral obstruction. Subsequent radiography and ultrasound identified the pellet as being within the lumen of the urethra. Examination of the trichotomized skin revealed two scars, including a scar over the paralumbar fossa in the region of the urinary bladder suggestive of a projectile injury. The pellet was removed by a perineal urethrotomy. The patient was able to spontaneously urinate after urethrotomy, passed a tube cystostomy challenge two weeks after surgery, and was discharged. No complications were reported. While uncommon in the veterinary and comparative medical literature, clinicians should consider the potential for projectile pellets to migrate into the urinary tract after initial injury.
An unusual presentation of Pseudomonas citronellolis bacteraemia and Campylobacter gastroenteritis infection in a human - a case report and literature review
Authors: Catherine S Hwang, Elham Rahmati, Anthony J Gerbino, Tracie M Rose, Punam Verma, Margot A Schwartz
Journal: Access Microbiol (2023)
Keywords: campylobacter, pseudomonas, bacteremia, human, infection
MeSH terms: Case Reports

Introduction:

Pseudomonas citronellolis is an unusual pathogen in humans and has not been extensively described in the scientific literature. Herein, we present a case of bacteremia and septic shock due to Pseudomonas citronellolis following Campylobacter species gastroenteritis in a patient with immunosuppression.
Case presentation:
An 80-year-old man with myeloproliferative disorder on ruxolitinib presented with several days of worsening abdominal pain, which rapidly developed into septic shock with multi-organ failure and explosive diarrhea. Gram-negative bacilli observed on Gram staining of his blood culture broth were later identified as Pseudomonas citronellolis and Bacteroides thetaiotaomicron . Repeated abdominal imaging revealed no evidence of intestinal perforation or megacolon. In addition, stool PCR was positive for Campylobacter species. His clinical course improved after 14 days of meropenem with complete resolution of his symptoms and organ failure.
Conclusion:

P. citronellolis is a rare infection in humans. We postulate that Janus Associated Kinase (JAK) inhibition in myeloproliferative disorders heightened this patient's risk of bacterial translocation and severe illness in the setting of Campylobacter gastroenteritis. P. citronellolis may be identified more frequently as a pathogen in humans as more advanced diagnostic technologies become increasingly available in clinical microbiology.
The Impact of Different Factors on Repeat Visits to Selected International Tourism Enterprises: Case Study From Czechia
Authors: Patrik Kajzar
Journal: Front Psychol (2022)
Keywords: czechia, consumer behavior, environment, factors, international tourism enterprises, offer, service

The aim of this article is to identify the influence of the different factors on the repeat visits to selected international tourism enterprises based on the responses of customers in Czechia. The selected factors were divided into three main groups: service, environment, and offer, and each of these groups consists of other different factors. Primary data were analyzed using SPSS software. Statistical hypotheses were formed, reflecting the relationship between the difference in customer responses and selected quality factors, which can affect repeated visits to selected tourism enterprises. Most customers of repeat visits to selected tourism enterprises are affected by professional behavior, staff empathetic approach, offer knowledge and ability to provide as much information as possible, cleanliness and tidiness, overall atmosphere of the establishment, lighting and thermal comfort, air cleanliness, and plenty of space, taste and quality of food and ingredients, and last but not least also corresponding ratio of price/quality, good experience and attractive price level. Studying consumer behavior is important because it helps marketers understand what influences consumers' buying decisions not only in the tourism area in the Czechia but can fill in the market gap and identify the new products and services that are needed.