OpenMed/multicare-articles huggingface dataset:
Transpedicular Endoscopic Surgery for Highly Downmigrated L5-S1 Disc Herniation
Authors: Guntram Krzok
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Endoscopic surgery for highly downmigrated disc herniation at level L5-S1 is a challenging technique. Most surgeons prefer the interlaminar access because of the special anatomy of the L5-S1 disc level, i.e., narrow neuroforamen and large interlaminar window. Transforaminal access to the neuroforamen L5-S1 is difficult in cases with high iliac crest. Here, the access to the highly downmigrated disc herniation with the recently reported technique of transpedicular endoscopic surgery by Krzok et al. was described. In 3 cases with highly downmigrated disc herniation of L5-S1, the sequester was removed successfully through the bone hole of S1 pedicle. This technique is demanding for experienced endoscopic surgeons.
Pleural empyema due to Salmonella in a patient with bronchogenic carcinoma: the first case report from a cancer hospital in Egypt
Authors: Ahmed Samir Abdelhafiz, Mona Wassef, Mohamed Alorabi
Journal: Access Microbiol (2020)
Keywords: salmonella, bronchogenic carcinoma, cancer, empyema
MeSH terms: Case Reports

Background:

Salmonella species are motile, Gram-negative facultative anaerobic bacilli, which belong to the family Enterobacteriaceae . The most common clinical presentations of Salmonella infection are gastroenteritis and enteric fever. Detection of Salmonella organisms in empyema is very rare.
Case presentation:
We report the case of a 66-year-old female patient with bronchogenic carcinoma who developed empyema, and Salmonella was identified from the culture of pleural fluid. After antimicrobial therapy and other therapeutic measures, including the insertion of an intercostal tube, oxygen supplementation, frequent suction of respiratory secretions, and chest physiotherapy, the patient's condition improved. To the best of our knowledge, this is the first case to be reported in Egypt.
Conclusions:
Our case sheds light on the role of Salmonella in immunocompromised patients in general and cancer patients in specific. We recommend further study of this role, since it may lead to a better understanding of the pathogenicity of this organism in these patients.
Acute Laryngeal Dyspnea as the First Presentation of Mantle Cell Lymphoma: A Case Report and Review of the Literature
Authors: Mounir Ababou, Hicham El Maaroufi, Adnane Hammani, Selim Jennane, El Mehdi Mahtat, Mohammed Mikdame, Kamal Doghmi
Journal: Case Rep Hematol (2020)
MeSH terms: Case Reports

Introduction:
Acute laryngeal dyspnea is a life-threatening emergency, and the causes in adults are most often laryngeal tumors or inflammatory edema. Lymphoma of the larynx and especially the mantle cell type is extremely rare. Case Presentation. We report a case of a 43-year-old woman with no particular pathological history. She presented with progressive dyspnea which has evolved towards an inspiratory bradypnea that worsened until she ultimately required an emergency tracheotomy. Biopsies revealed mantle cell lymphoma. The patient has been staged IVB MIPI 6, and she was treated by immunochemotherapy followed by ASCT. The therapeutic evaluation shows a complete remission, 18 months after, and the patient was always disease free.
Conclusion:
The laryngeal localization of the mantle cell lymphoma is extremely rare; it may present catastrophically with acute airway obstruction. The diagnosis is mostly histological, hence the interest of deep biopsy. Given its rarity, the therapeutic strategy must be discussed case by case in a multidisciplinary consultation meeting.
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
Authors: Katalin Komlósi, Balázs Duga, Kinga Hadzsiev, Márta Czakó, György Kosztolányi, András Fogarasi, Béla Melegh
Journal: Mol Cytogenet (2015)
Keywords: 4q21, array cgh, intellectual disability, short stature, submicroscopic deletion
MeSH terms: Case Reports

Background:
Interstitial deletions of 4q21 (MIM 613509) have already been reported in more than a dozen patients with deletions ranging from 2 to 15.1 Mb delineating a common phenotype including marked growth restriction, hypotonia, severe developmental delay with absent or delayed speech and distinctive facial features. A minimal critical region of 1.37 Mb accounting for the common features with 5 known genes (PRKG2, RASGEF1B, HNRNPD, HNRPDL, and ENOPH1) has been described so far.
Results:
Here we report on a 5 year-old Hungarian girl presenting with severe developmental delay, good receptive language but absent spoken speech, short stature, dystrophy, hypotonia, distinctive facies including broad forehead, frontal bossing, downward slanting palpebral fissures, hypertelorism, hypoplastic ear-lobes, anteverted nostrils, short philtrum, small mouth, higharched palate, short, small hands and feet, distally narrowing fingers and clinodactyly. Cerebral MRI showed ventricular dilation and an increase in periventricular signal intensity. After extensive metabolic tests and exclusion of subtelomeric deletions array CGH analysis was performed using the Agilent Human Genome G3 SurePrint 8x60K Microarray (Agilent Technologies, USA), which detected a 4,85 Mb de novo interstitial deletion of 4q21.21-4q21.23. The clinical symptoms only partly overlap with reported 4q21 microdeletion cases. Among multiple annotated genes our patient is also haploinsufficient for the following genes: RASGEF1B being a strong candidate for the neurodevelopmental features and PRKG2 for severe growth delay.
Conclusion:
The first Hungarian case of 4q21 deletion adds to the phenotypic spectrum of this novel microdeletion syndrome and underlines the importance of array CGH to uncover the heterogeneous causes of intellectual disability.
Cortico-subthalamic Coherence in a Patient With Dystonia Induced by Chorea-Acanthocytosis: A Case Report
Authors: Chunyan Cao, Peng Huang, Tao Wang, Shikun Zhan, Wei Liu, Yixin Pan, Yiwen Wu, Hongxia Li, Bomin Sun, Dianyou Li, Vladimir Litvak
Journal: Front Hum Neurosci (2019)
Keywords: dbs, human, magnetoencephalography (meg), movement disorder, oscillations

The subthalamic nucleus (STN) is a common target for deep brain stimulation (DBS) treatment in Parkinson's disease (PD) but much less frequently targeted for other disorders. Here we report the results of simultaneous local field potential (LFP) recordings and magnetoencephalography (MEG) in a single patient who was implanted bilaterally in the STN for the treatment of dystonia induced by chorea-acanthocytosis. Consistent with the previous results in PD, the dystonia patient showed significant subthalamo-cortical coherence in the high beta band (28-35 Hz) on both sides localized to the mesial sensorimotor areas. In addition, on the right side, significant coherence was found in the theta-alpha band (4-12 Hz) that localized to the medial prefrontal cortex with the peak in the anterior cingulate gyrus. Comparison of STN power spectra with a previously reported PD cohort showed increased power in the theta and alpha bands and decreased power in the low beta band in dystonia which is consistent with most of the previous studies. The present report extends the range of disorders for which cortico-subthalamic oscillatory connectivity has been characterized. Our results strengthen the evidence that at least some of the subthalamo-cortical oscillatory coherent networks are a feature of the healthy brain, although we do not rule out that coherence magnitude could be affected by disease.
A Case of Cervical Intraneural Lipoma That Was Removed by Intercapsular Resection with No Resultant Postoperative Neurological Deficit
Authors: Hitoshi Sato, Yoshiro Saito, Tatsuya Kitajima, Shunya Egawa, Toshikazu Shimane
Journal: Case Rep Otolaryngol (2022)
MeSH terms: Case Reports

Intraneural lipomas in peripheral nerves of cervical lesions are extremely rare and have not been previously reported. We present a 48-year-old male with a gradually increasing right cervical mass since 5 years. He visited our department because of pain and difficulty in raising the right upper limb. A tumor about 80 mm in size was palpable in the right neck along the cervical nerve. The tumor was suspected to involve fatty degeneration in schwannoma of cervical nerve origin, for which intercapsular resection was performed under general anesthesia. Histopathologically, bifurcated growth of mature adipocytes with sparse fibrous septa and lack of tumor proliferation of Schwann cells was observed on H&E staining, suggesting a diagnosis of intraneural lipoma. The patient had no new motor or sensory deficits postoperatively and with improvement in his preoperative symptoms.
Intracorneal Hematoma Showing Clinical and Dermoscopic Features of Acral Lentiginous Melanoma
Authors: Ugur Uslu, Franz Heppt, Michael Erdmann
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Intra- and subcorneal hematoma, a skin alteration seen palmar and plantar after trauma or physical exercise, can be challenging to distinguish from in situ or invasive acral lentiginous melanoma. Thus, careful examination including dermoscopic and histologic assessment may be necessary to make the correct diagnosis. We here present a case of a 67-year-old healthy female patient who presented with a pigmented plantar skin alteration. Differential diagnoses included benign skin lesions, for example, hematoma or melanocytic nevus, and also acral lentiginous melanoma or melanoma in situ. Since clinical and dermoscopic examinations did not rule out a malignant skin lesion, surgical excision was performed and confirmed an intracorneal hematoma. In summary, without adequate physical trigger, it may be clinically and dermoscopically challenging to make the correct diagnosis in pigmented palmar and plantar skin alterations. Thus, biopsy or surgical excision of the skin alteration may be necessary to rule out melanoma.
Diagnosis and laparoscopic management of retrocaval ureter: A review of the literature and our case series
Authors: Maher Abdessater, Raghid El Khoury, Sandra Elias, Stephane Bart, Patrick Coloby, Walid Sleiman
Journal: Int J Surg Case Rep (2019)
Keywords: case series, laparoscopic surgery, literature review, retrocaval ureter

Objectives:
To expose the diagnosis and the different laparoscopic approaches for the surgical management of patients with retrocaval ureter (RCU) and to share our experience on two cases.
Methods:
Updated literature review on Pubmed and debating personal experiences including ours (double j stent insertion before the surgery, use of 4 trocards, transperitoneal approach, pyelopyelostomy for the anastomosis…), concerning the laparoscopic treatment of the RCU.
Results:
Laparoscopic treatment of RCU is a recommended management for many reasons: less blood loss during the surgery, a shorter hospital stay, less postoperative pain and superior esthetic results with excellent functional results. All of these findings were also a part of our experience on the two reported cases: operative time was 210 and 180 min with no significant bleeding, hospital stay was 48 h post operatively for both patients that were symptom free with no renal dilation after 2 years of close follow up. The main cause of the increased operating time is the intracorporeal anastomosis of the ureter which remains the main limiting factor of the laparoscopic surgery.
Conclusions:
The literature review has clearly shown the advantages of minimally invasive techniques for the treatment of retrocaval ureter. Pure laparoscopic treatment (as in our two cases), seems feasible and technically reliable, and should be the standard surgical option for the treatment of RCU.
Capecitabine-induced radiation recall phenomenon: a case report
Authors: José Aguilar, Elena García, Elisa García-Garre
Journal: F1000Res (2012)

Radiation recall dermatitis is defined as an inflammatory reaction of the skin at the site of previous irradiation. Different drugs have been associated with triggering this phenomenon, and it can also affect other areas and organs where previous radiotherapy has been administered. The time gap between the inflammatory reaction and previous radiation can range from days to several years. We report a case of capecitabine-induced Radiation Therapy Oncology Group (RTOG) grade 4 (ulcerating dermatitis) recall skin toxicity of skin irradiated 3 years previously. To our knowledge, this is the first reported case of capecitabine-induced RTOG grade 4 (ulcerating dermatitis) recall skin toxicity of previously irradiated skin. Clinicians should be aware of this phenomenon, even when considering patients for whom it has been a long time since previous radiation therapy. This unusual and late drug side effect should be borne in mind in the differential diagnosis and management of advanced-disease patients as it may be confused with local relapse or infectious complication of previously operated areas.
Pulmonary Hemorrhage Secondary to Disseminated Strongyloidiasis in a Patient with Systemic Lupus Erythematosus
Authors: Erika P Plata-Menchaca, V M De la Puente-Diaz de Leon, Adriana G Peña-Romero, Eduardo Rivero-Sigarroa
Journal: Case Rep Crit Care (2015)

Introduction. Pulmonary hemorrhage secondary to disseminated strongyloidiasis is an unusual, well-recognized entity in immunocompromised patients with autoimmune disease, which is associated with the hyperinfection syndrome, sepsis, and a high mortality rate. Case Presentation. We present a case of a 44-year-old Mexican woman with systemic lupus erythematosus and acute bacterial meningitis who developed pulmonary hemorrhage with acute respiratory failure requiring mechanical ventilation, treated with broad spectrum systemic antibiotics and high dose methylprednisolone, who subsequently developed a characteristic purpuric skin eruption and septic shock and died two days later of refractory hypoxemia caused by massive pulmonary bleeding. The postmortem examination reports filariform larvae of S. stercolaris in lung, skin, and other organs. Conclusion. This case highlights the importance of considering disseminated strongyloidiasis in the differential diagnosis of diffuse alveolar hemorrhage in systemic lupus erythematosus, and screening for S. stercolaris infection before initiation of immunosuppressive therapy should be considered, especially in endemic areas. Disseminated strongyloidiasis has a high mortality rate, explained in part by absence of clinical suspicion.
Adverse Interaction between Capecitabine and Warfarin Resulting in Altered Coagulation Parameters: A Review of the Literature Starting from a Case Report
Authors: Giovanni Giunta
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Capecitabine is an orally active prodrug of fluorouracil and is extensively used as an antineoplastic agent. It is converted to 5-Fluorouracil in the liver and tumor tissues. Warfarin is an anticoagulant agent for preventing and treating venous and arterial thrombosis and embolism and is metabolized by cytochrome P450 isoenzymes in the liver. Preclinical in vitro studies using human liver microsomes report no inhibitory effects between capecitabine and substrates of cytochrome P. However, the concomitant administration of capecitabine and warfarin resulted in INR elevation in the cases previously reported in the literature. The exact mechanism of this interaction is unknown but may be related to downregulation of cytochrome P450 2C9 by capecitabine or its metabolites. We report on the possible adverse interaction between capecitabine and warfarin in a patient with metastatic breast cancer and critically review the existing literature on this topic. Physicians should be aware of adverse reactions arising from the combined use of capecitabine and warfarin. In the light of the current data, INR levels should be closely monitored in patients using these drugs together.
Post-operative cardiac arrest induced by co-administration of amiodarone and dexmedetomidine: a case report
Authors: Takafumi Ohmori, Nobuhiro Shiota, Akihiro Haramo, Takahiro Masuda, Fumi Maruyama, Kenji Wakabayashi, Yushi U Adachi, Koichi Nakazawa
Journal: J Intensive Care (2015)
Keywords: amiodarone, cardiac arrest, dexmedetomidine
MeSH terms: Case Reports

We firstly report a postoperative hemodialysis patient who was co-administered with amiodarone and dexmedetomidine and developed severe bradycardia followed by cardiac arrest. A 79-year-old male patient underwent an amputation of the right lower extremity. The electrocardiogram of the patient showed a complete right bundle branch block with left anterior fascicular block before the anesthesia, and paroxysmal atrial tachycardia over 200 beats/min lasting 15 min was observed during surgery. After admission to the intensive care unit, the intensivist and the consultant cardiologist decided to treat tachycardia using amiodarone. The initial dosing of amiodarone and the maintenance infusion succeeded to decrease the heart rate. Approximately 2 h and a half after the start of dexmedetomidine infusion for sedation, the heart rate gradually declined and severe bradycardia suddenly followed by cardiac arrest was observed. Resuscitation was promptly initiated and the patient regained sinus rhythm without delay. In retrospective analysis, the monitoring record of the electrocardiogram revealed the marked atrioventricular conduction abnormalities. This is the first case report concerning a cardiac arrest induced by amiodarone and dexmedetomidine.
The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa
Authors: Qianqian Qu, Qi Qian, Jiejing Shi, Haiyan Liu, Yan Zhang, Wenhao Cui, Ping Chen, Haidong Lv
Journal: Front Neurol (2020)
Keywords: agl gene, gene mutation, glycogen debrancher enzyme, glycogen storage disease type iii, skeletal muscle mri
MeSH terms: Case Reports

Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of late-onset GSD IIIa caused by mutation of the AGL gene in adults. Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with late-onset GSD IIIa in adulthood were collected in detail in November 2019. Results: The proband is a 40-years-old male, who was admitted into our hospital due to a 2-years history of limb weakness. The proband was diagnosed with the following syndrome: he had a 15-years history of elevated muscle enzymes; the cranial nerve examinations showed no abnormal findings; the muscle tension in both upper and lower limbs was low, and tendon reflexes were absent; the proband's muscle strength was 5 in the proximal muscles and 4 in the distal muscles of the upper limbs, with 3 in the proximal muscles and 4 in the distal muscles of the lower limbs; Magnetic Resonance Imaging (MRI) revealed abnormally high signal intensity changes in the posterior thigh muscle group, and the posterior-medial calf muscle group; and vacuoles were evident in some muscle fibers biopsied from the gastrocnemius muscle. Periodic acid-Schiff staining stained the cytoplasm of muscle fibers a dark red color. The proband's older brother exhibited the same clinical features. DNA analysis identified mutations in the AGL gene in the proband, his older brother, and parents. The proband and his older brother both carried two compound heterozygous mutations, c.866G>A and c.2855_2856insT. Pedigree analysis demonstrated that c.866G>A and c.2855_2856insT mutations had been inherited from the mother and father, respectively. Conclusion: Late-onset GSD IIIa in adults is clinically characterized by muscle weakness, muscle atrophy, and mainly occurred in the posterior thigh muscle group. We also identified two novel compound heterozygous mutations (c.866G> A and c.2855_2856insT) in the AGL gene.
A Case Report of Hirschsprung's Disease in a Neonate: Early Detection and Review of Management
Authors: Fatimah Rajabally, Rama Alkhaldi, Helen Huang, Mohammad Said, Farah Elnakoury, Chaithanya Avanthika, Fouad Abdool
Journal: Cureus (2023)
Keywords: case report, duhamel, frozen suction rectal biopsy, hirschsprung's disease, review of management
MeSH terms: Case Reports

Hirschsprung's disease is a rare disease characterized by the complete absence of ganglionic cells in the colon, thereby causing loss of peristalsis movement of the bowel. Most cases are diagnosed before the age of one. Here, we present a case of a newborn baby boy who was not feeding well and then developed a distended abdomen and began bilious vomiting. Blood mucoid stools were also observed. The diagnosis of Hirschsprung's disease was confirmed through a full-thickness rectal biopsy, and the Duhamel surgical procedure was performed as a course of treatment all within the first few days of birth. No complications were reported, and the baby was safely discharged after seven days. This case demonstrates the importance of timely treatment after prompt diagnosis due to the early recognition of the severe symptoms. Even though this disease is rare, pediatricians should be trained to recognize and treat the child to prevent further detrimental outcomes.
Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review
Authors: Linlin Xu, Dina Zhu, Yanxia Zhang, Guanxia Liang, Min Liang, Xiaofeng Wei, Xiaoqing Feng, Xuedong Wu, Xuan Shang
Journal: Front Genet (2021)
Keywords: klf1, children, chronic non-spherocytic hemolytic anemia, compound heterozygote, hereditary hemolytic anemia, β-thalassemia

Background:
Anemia is one of the most common diseases affecting children worldwide. Hereditary forms of anemia due to gene mutations are difficult to diagnose because they only rely on clinical manifestations. In regions with high prevalence of thalassemia such as southern China, pediatric patients with a hereditary hemolytic anemia (HHA) phenotype are often diagnosed with β-thalassemia. However, HHA can be caused by other gene defects. Here, a case previously diagnosed with thalassemia in a local hospital was sent to our laboratory for further genetic diagnosis. Preliminary molecular testing did not identify any mutations in globin genes.
Methods:
All blood samples were collected after informed consent had been obtain from the proband's parents. Both clinical and genetic analyses were conducted for the patient and her family members, including clinical data collection and sequencing of the KLF1 gene. Relevant literature was reviewed, including genetically confirmed cases with well-documented clinical summaries.
Results:
Based on the detailed clinical data for this case, we diagnosed the patient with severe HHA. Sanger sequencing confirmed that there was a mutation on each KLF1 allele in the proband, which is missense mutation c.892G > C (p.Ala298Pro) inherited from father and frameshift mutation c.525_526insCGGCGCC (p.Gly176Argfs∗179) from the mother, respectively. A summary of the KLF1 mutation spectrum and a clarification of genotype-phenotype correlation were performed through a combined analysis of the case and literature studies.
Conclusion:
This study corrected the misdiagnosis and identified the etiology in a Chinese patient with HHA. Identification of the disease-causing gene is important for the treatment and care of the patient and prevention of another affected childbirth in her family. In addition, this study provided insight to better distinguish HHA patients with β-thalassemia mutations from those with KLF1 mutations.