OpenMed/multicare-articles huggingface dataset:
Impaired consciousness due to injury of the ascending reticular activating system in a patient with bilateral pontine infarction: A case report
Authors: Soyoung Kwak, Min Cheol Chang
Journal: Transl Neurosci (2020)
Keywords: ascending reticular activating system, consciousness, diffusion tensor tractography, pontine infarction
MeSH terms: Case Reports

The ascending reticular activating system (ARAS) is known to play an essential role in maintaining arousal and consciousness. In this report, we describe the case of a patient with impaired consciousness due to injury of the ARAS after bilateral pontine infarction. A 73-year-old female patient presented with anterior chest pain to the Emergency Department of our university hospital. She was diagnosed with chronic stable angina pectoris, three-vessel disease, and chronic total occlusion of the left anterior descending artery by coronary angiography and received conservative treatment. After five days, she showed deep drowsy mentality and brain MRI revealed bilateral paramedian pontine infarction. Four weeks after the pontine infarction, she showed severely impaired consciousness, with a Glasgow Coma Scale score of 7 (eye-opening: 2, best verbal response: 2, and best motor response: 3). Coma Recovery Scale-Revised score was 10 (auditory function: 2, visual function: 3, motor function: 2, verbal function: 2, communication: 0, and arousal: 1). Results of diffusion tensor tractography (DTT) for the ARAS showed decreased neural connectivity in the left lower dorsal ARAS, both lower ventral ARAS, and both upper ARAS. To the best of our knowledge, this is the first report of injury to the ARAS in bilateral pontine infarction diagnosed by DTT. We presume that our report would provide clinicians a better understanding of the mechanism of impaired consciousness in patients with pontine infarction.
Coexisting primary central nervous system non-Hodgkin's lymphoma and colorectal adenocarcinoma: A case report
Authors: Zhengshi Wang, Ming Zhong
Journal: Oncol Lett (2014)
Keywords: colorectal adenocarcinoma, primary central nervous system non-hodgkin’s lymphoma, synchronous carcinomas

A 61-year-old female presented with night sweats following a resection for non-Hodgkin's lymphoma of splenium corporis callosi. A positron emission tomography-computed tomography scan demonstrated that original lymphoma activity remained. A new ascending colon mass was identified simultaneously, which was diagnosed as an adenocarcinoma following the surgery. To the best of our knowledge, this is the first case to report a coexistence of primary central nervous system non-Hodgkin's lymphoma and colorectal adenocarcinoma. The case poses a difficult clinical challenge.
Pharmacoresistant Severe Mental Health Disorders in Children and Adolescents: Functional Abnormalities of Cytochrome P450 2D6
Authors: Susanne Thümmler, Emmanuelle Dor, Renaud David, Graziella Leali, Michele Battista, Alexia David, Florence Askenazy, Céline Verstuyft
Journal: Front Psychiatry (2018)
Keywords: cyp2d6, antidepressants, antipsychotics, child and adolescent psychiatry, personalized medicine, pharmacogenetics
MeSH terms: Case Reports

Background:
Severe mental health disorders in children and adolescents represent a major public health problem. Despite adequate drug treatment, some patients develop pharmacoresistant disease. As a consequence, physicians are confronted with prescribing challenges, prolonged hospitalization and increased risk of adverse events, thus aggravating short-, medium-, and long-term prognosis. The majority of psychotropic treatments, particularly antipsychotics and antidepressants, are metabolized at hepatic level by cytochrome P450 (CYP), particularly by CYP3A4 and CYP2D6. Several CYP2D6 genetic polymorphisms are described to be associated with ultrarapid (UM) or poor drug metabolism (PM), inducing clinical resistance and/or adverse events, and might therefore be related to pharmacoresistant severe mental health disease.
Case presentation:
A total of nine pharmacoresistant patients (four females, five males) aged 11-16 (mean 14.1) years have been genotyped for CYP2D6 between January, 2015 and April, 2016. Patients were diagnosed with schizophrenia (n = 5), autism spectrum disorders (n = 2), intellectual disability with challenging behavior (n = 2), oppositional defiant disorder (n = 1), and post-traumatic stress and borderline personality disorders (n = 1). They had a treatment history with on average 6.1 (3-9) psychotropic, 5 (3-7) antipsychotic, and 3.4 (2-5) CYP2D6-metabolized antipsychotic and antidepressant molecules. Five patients (56%) presented functional anomalies of the CYP2D6 gene: three patients were UM metabolizers with gene duplication and two patients were PM with *4/*41 and *3/*4 polymorphisms.
Conclusion:
Functional anomalies of CYP2D6 concerned more than half of our pediatric inpatient sample with pharmacoresistant disease. However, our case reports are limited by the low sample size. Nevertheless, knowledge of individual metabolism and in particular CYP2D6 genotyping should be considered for clinical workup and therapy adjustment in resistant patients in child and adolescent psychiatry and might permit better treatment outcome, increased treatment adherence and diminished adverse events.
High-Dose Inhaled Nitric Oxide as Adjunct Therapy in Cystic Fibrosis Targeting Burkholderia multivorans
Authors: Bethany L Bartley, Kelly J Gardner, Stefano Spina, Bryan P Hurley, David Campeau, Lorenzo Berra, Lael M Yonker, Ryan W Carroll
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Background:
Individuals with cystic fibrosis (CF) have persistent lung infections, necessitating the frequent use of antibiotics for pulmonary exacerbations. Some respiratory pathogens have intrinsic resistance to the currently available antibiotics, and any pathogen may acquire resistance over time, posing a challenge to CF care. Gaseous nitric oxide has been shown to have antimicrobial activity against a wide variety of microorganisms, including common CF pathogens, and offers a potential inhaled antimicrobial therapy. Case Presentation. Here, we present the case of a 16-year-old female with CF who experienced a precipitous decline in lung function over the prior year in conjunction with worsening antibiotic resistance of her primary pathogen, Burkholderia multivorans. She received 46 intermittent inhalations of 160 parts-per-million nitric oxide over a 28-day period. The gas was administered via a mechanical ventilator fitted with nitrogen dioxide scavenging chambers.
Conclusions:
High-dose inhaled nitric oxide was safe, well tolerated, and showed clinical benefit in an adolescent with cystic fibrosis and pulmonary colonization with Burkholderia multivorans.
Successful Treatment of Respiratory Failure in a Patient with Prader-Willi Syndrome with Noninvasive Ventilation with AVAPS
Authors: Nauras Hwig, Montserrat Diaz-Abad, Victor T Peng, Jennifer Y So, Anayansi Lasso-Pirot
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

Prader-Willi syndrome (PWS) is the most prevalent syndromic form of obesity, which starts during early childhood in the setting of hyperphagia. Due to the development of obesity, there is a high prevalence of obstructive sleep apnea (OSA) among these patients. This case report presents a patient with PWS with morbid obesity, severe OSA, and obesity hypoventilation syndrome admitted to the hospital for hypoxemic and hypercapnic respiratory failure. Noninvasive ventilation (NIV) with average volume-assured pressure support, a newer NIV modality, was used successfully to treat this patient, achieving major clinical and gas exchange improvement both during the hospitalization and long term after discharge.
Leiomyosarcoma of the Vagina: An Exceedingly Rare Diagnosis
Authors: Nathan A Keller, Heidi Godoy
Journal: Case Rep Obstet Gynecol (2015)

Background. Primary leiomyosarcoma of the vagina is an exceedingly rare diagnosis. Current estimates are that this tumor could at most represent a mere 0.062% of malignant neoplasms in the female genital tract, although in actuality it is likely far less common. Case Presentation. A 70-year-old female gravida 3 para 2 with new onset palpable vaginal mass and pink vaginal discharge is diagnosed with primary leiomyosarcoma of the vagina. Chemotherapy is complicated by acute Lyme disease, and the patient requires a robotic-assisted total hysterectomy with bilateral salpingo-oophorectomy and partial vaginectomy. The patient remains without recurrence 18 months after surgery. Conclusion. Vaginal leiomyosarcoma is exceedingly rare with an aggressive course, high recurrence, and undetermined ideal treatment regimen. Its diagnosis can be delayed and its presentation varied. Information on this rare tumor type is predominantly through rare case reports with collective consensus on management lacking. The gynecologic oncologist must exercise prudence in individualizing treatment regimens for this rare yet aggressive malignancy.
Monostotic Fibrous Dysplasia of the Mandible in a 9-Year-Old Male Patient Treated with a Conservative Surgical Treatment: A Case Report and 15-Year Follow-Up
Authors: Antoine Berberi, Georges Aoun, Emile Khalaf, Georges Aad
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Fibrous dysplasia is a developmental disorder of the bone that originates from a genetic defect disturbing the osteogenesis leading to the replacement of normal bone with the excess proliferation of fibrous tissue. It can be associated with hyperpigmentation of the skin and endocrine disorders. Fibrous dysplasia can manifest in a monostotic form affecting one bone or in a polyostotic form involving several bones. Approximately 30% of monostotic forms are observed in the maxilla and the mandible. It frequently appears in the posterior region and is usually unilateral. It is found in teenagers and could become static after adulthood. Patients can present with swelling, facial asymmetry, pain, or numbness on the affected side. Treatment modalities vary between conservative surgical treatment, radical surgical approach, and medical treatment based on bisphosphonates. Here, we present a case of a monostotic form of fibrous dysplasia affecting the posterior left region of the mandible in a 9-year-old male complaining of gradually increased swelling on the left mandibular side of one-year duration. The diagnosis of fibrous dysplasia is established based on clinical, radiographical, and histopathological features. Conservative surgery is implemented with surgical shaving and reencountering of the bone excess to reduce the facial asymmetry. Recurrence is reported 10 years later and is also treated with a localized osteoplasty and remodeling of the bone contours. Five years later, the lesion remains stable. In conclusion, a conservative approach should be adopted as the first line of treatment for young patients suffering from monostotic fibrous dysplasia.
NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature
Authors: Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang
Journal: Front Pediatr (2022)
Keywords: leigh syndrome, ndufaf6, complex i deficiency, mitochondrial disease, neurodegenerative disorder
MeSH terms: Case Reports

Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems. The syndrome characteristically presents symmetric necrotizing lesions in the basal ganglia, brainstem, cerebellum, thalamus, and spinal cord on cranial magnetic resonance imaging. To date, more than 85 genes are known to be associated with Leigh syndrome. Here, we present a rare case of a child who developed Leigh syndrome due to pathogenic variants of NDUFAF6, which encodes an assembly factor of complex I, a respiratory chain subunit. A targeted next-generation sequencing analysis related to mitochondrial disease revealed a missense variant (NM_152416.4:c.371T > C; p.Ile124Thr) and a frameshift variant (NM_152416.4:c.233_242del; p.Leu78GInfs*10) inherited biparentally. The proband underwent physical therapy and nutrient cocktail therapy, but his physical impairment gradually worsened.
Mycophenolate mofetil-related enterocolitis and weight loss: a pediatric case series
Authors: Dana M H Dykes, Sean R Moore, D Brent Polk, Michael J Rosen, Marcia L Wills, Brian Morris, Jeanine S Maclin, Janaina Nogueira, Avi Katz, Tracey E Hunley, Judith Pugh, Shehzad Saeed
Journal: Case Rep Pediatr (2012)

Mycophenolate mofetil (MMF) is an immunosuppressive medication utilized in the management of both autoimmune and solid organ transplant patients. Diarrhea is a common gastrointestinal side effect of MMF, but more severe forms of GI symptoms are described in renal transplant patients with a distinct pattern of histopathologic change, similar to graft-versus-host disease or Crohn's disease. This rare entity, commonly referred to as "MMF-related enterocolitis," has been described in adult patients, mostly in renal transplant patients, and in only two pediatric renal transplant patients. In previously reported cases, symptoms and abnormal histopathology improve with dose reduction of MMF. We describe a series of three pediatric patients with varied underlying disease process who presented with severe diarrhea and histopathologic findings characteristic of MMF-related enterocolitis, who share a novel finding of weight loss as a complication of MMF-related enterocolitis in pediatric patients.
Coexistence of Emphysematous Pyelonephritis and Cystitis in a Patient with COVID-19 Complicated with Spontaneous Pneumomediastinum
Authors: Ibrahim Boukhannous, Anouar El Moudane, Mehdi Chennoufi, Mohamed Mokhtari, Abdelghani Ouraghi, Hamza Mimouni, Ali Barki
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

We report the first case of a 52-year-old nondiabetic male admitted for management of uremic syndrome associated with emphysematous pyelonephritis (EPN), renal and perinephric abscess, and emphysematous cystitis (EC) on a single functional kidney with a large abundance of spontaneous pneumomediastinum (SP) complicating a SARS-CoV-2 pneumonia. The patient has benefited from several dialysis sessions, intravenous antibiotics, and percutaneous drainage. His clinical course was complicated by acute respiratory distress syndrome, and unfortunately, he died nine days following admission.
Hysterectomy with Fetus In Situ for Uterine Rupture at 21-Week Gestation due to a Morbidly Adherent Placenta
Authors: Katerina Pizzuto, Cory Ozimok, Radenka Bozanovic, Kathleen Tafler, Sarah Scattolon, Nicholas A Leyland, Michelle Morais
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
Uterine rupture due to a morbidly adherent placenta is a rare obstetrical cause of acute abdominal pain in the pregnant patient. We present a case to add to the small body of published literature describing this diagnosis.
Case:
A 32-year-old G5T2P1A1L2 with multiple prior cesarean sections presented at 21+3 weeks' gestation with abdominal pain and presyncope. Ultrasound showed a large volume of complex intraabdominal free fluid and a heterogenous placenta with irregular lacunae and increased vascularity extending to the posterior bladder wall. Exploratory laparotomy identified a uterine defect and a hysterectomy was performed due to significant bleeding. Pathology confirmed a diagnosis of placenta percreta.
Conclusion:
Early recognition and management of uterine rupture due to a morbidly adherent placenta are essential to prevent catastrophic hemorrhage.
The Use of Membranes (ST-100, oXiris, and M60) for Continuous Renal Replacement Therapy in a Child with Sepsis
Authors: Jiayun Ying, Xiaodi Cai, Guoping Lu, Weiming Chen
Journal: Case Rep Crit Care (2023)
MeSH terms: Case Reports

Sepsis is a critical condition affecting patients worldwide. Systemic inflammatory response syndrome in sepsis contributes to organ dysfunction and mortality. The oXiris is a recently developed continuous renal replacement therapy (CRRT) hemofilter indicated for the adsorption of cytokines from the bloodstream. In our study, in a septic child, CRRT with three filters, including the oXiris hemofilter, resulted in a downregulation of inflammatory biomarkers and a reduction of vasopressors. Herein, we described the first report of such usage in septic children.
A "Kissing-Stents" Technique in the Management of Afferent Limb Syndrome With Concomitant Efferent Limb Obstruction in a Patient With Gastric Cancer and Billroth II Anatomy
Authors: Sami Elamin, Daniel Stein, Jonah Cohen
Journal: ACG Case Rep J (2020)
MeSH terms: Case Reports

The "kissing-stents" technique has been used in endovascular interventions for the management of aortic and arterial stenosis at bifurcation sites. However, to our knowledge, the use of this technique to prevent stent migration in endoscopy has not been described to date. We present a 65-year-old man with metastatic gastric adenocarcinoma status post-Billroth II gastrojejunostomy complicated by simultaneous afferent and efferent limb syndrome with gastric outlet obstruction and biliary dilatation. Two uncovered metal stents were used to relieve the afferent and efferent loop obstructions. These 2 stents were anchored together in a "kissing-stents" technique and using a clip to prevent migration. The patient was able to resume oral intake, and his liver function tests improved. This intervention should be considered in other cases of advanced malignancies causing obstructions for curative or palliative intent.
Case report: A novel c.1842_1845dup mutation of ETFDH in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency
Authors: Gaopin Yuan, Xiaohong Zhang, Tingli Chen, Jiansheng Lin
Journal: Front Pediatr (2023)
Keywords: etfdh, c1842_1845dup, multiple acyl-coa dehydrogenase deficiency, mutation, novel
MeSH terms: Case Reports

This article reports the characterization of two siblings diagnosed with late-onset multiple Acyl-CoA dehydrogenase deficiency (MADD) caused by mutations in electron transfer flavoprotein(ETF)-ubiquinone oxidoreductase (ETF-QO) (ETFDH) gene. Whole exome sequencing (WES) was performed in the proband's pedigree. Clinical phenotypes of Proband 1 (acidosis, hypoglycemia, hypotonia, muscle weakness, vomiting, hypoglycemia, hepatomegaly, glutaric acidemia, and glutaric aciduria) were consistent with symptoms of MADD caused by the ETFDH mutation. However, Proband 2 presented with only a short stature. The patients (exhibiting Probands 1 and 2) showed identical elevations of C6, C8, C10, C12, and C14:1. c.1842_1845 (exon13)dup, and c.250 (exon3) G > A of the ETFDH gene were compound heterozygous variants in both patients. The novel variant c.1842_1845dup was rated as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines (ACMG). This is the first report on the c.1842_1845dup mutation of the ETFDH gene in patients with late-onset MADD, and the data described herein may help expand the mutation spectrum of ETFDH.
Relaparotomy Two Years after Incisional Hernia Repair Using a Free Fascia Lata Graft
Authors: Yuuki Sekine, Hiroyuki Sugo, Naoki Iwanaga, Shigefumi Neshime, Ikuo Watanobe
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Although, free fascia lata autografts can be used to reconstruct various anatomical structures, little information is available about the status of such autografts several years after the procedure, especially in a clinical setting. Here, we describe our experience with a patient who underwent relaparotomy two years after incisional hernia repair using a fascia lata graft. A 79-year-old man underwent open hepatectomy for hepatocellular carcinoma. One year later, abdominal computed tomography revealed a locally recurrent tumor 1.5 cm in diameter and a giant incisional hernia measuring approximately 15 × 6 cm on the supraumbilical midline. After repeat hepatectomy, the incisional hernia was repaired using a free fascia lata patch as an interpositional graft. Two years later, the patient was readmitted because of recurrent tumors in the liver, and repeat hepatectomy was performed. During surgery, the fascia lata graft had survived well and become incorporated into the native fascia. We incised this fascia lata graft in the same way as for a normal laparotomy. After hepatectomy, the fascia lata graft was closed in layers with interrupted sutures. The patient was discharged on postoperative day 11 with no wound-related morbidity.
Apparent pacemaker dysfunction during peptide receptor radionuclide therapy for neuroendocrine tumor
Authors: Stefan Asbach, Fabienne Schluermann, Juri Ruf, Christoph Bode, Corinna Lang
Journal: Clin Case Rep (2017)
Keywords: exit block, hyperkalemia, pacemaker, radionuclide therapy
MeSH terms: Case Reports

This case is a reminder not to overlook rare causes of electrolyte shifts, which may cause reversible changes in pacemaker pacing thresholds.
Drastic Effects on the Microbiome of a Young Rower Engaged in High-Endurance Exercise After a Month Usage of a Dietary Fiber Supplement
Authors: Mariliis Jaago, Uku Siim Timmusk, Tõnis Timmusk, Kaia Palm
Journal: Front Nutr (2021)
Keywords: athlete, case study, dietary fiber, endurance sports, junior, microbiome, rowing

Food supplements are increasingly used worldwide. However, research on the efficacy of such supplements on athlete's well-being and optimal sports performance is very limited. This study performed in junior academic rowing explores the effects of nutritional supplements to aid to the high energy requirements at periods of intense exercise. Herein, the effects of prebiotic fibers on the intestinal microbiome composition of an 18-year-old athlete exercising at high loads during an 8-month period in a "real-life" setting were examined using next-generation sequencing analysis. Results demonstrated that although the alpha diversity of the subject's microbiome drastically decreased [from 2.11 precompetition to 1.67 (p < 0.05)] upon fiber consumption, the Firmicutes/Bacteroidetes ratio increased significantly [from 3.11 to 4.55, as compared with population average (p < 0.05)]. Underlying these macrolevel microbial alterations were demonstrable shifts from acetate- to butyrate-producing bacteria, although with stable effects on the Veillonella species. To our knowledge, this a unique study that shows pronounced changes in the gut microbiome of the young athlete at the competition season and their favorable compensation by the dietary fiber intake. The data here expand the overall understanding of how the high energy needs in high-intensity sports like academic rowing could be supported by dietary fiber supplement consumption.
Diagnosing Cellulitis of the Penis with Point-of-Care Ultrasonography in a Resource-Limited Setting
Authors: Yonathan Aliye Asfaw, Ayush Anand, Helen Huang, Muhammad Taimur, Sujan Poudel, Rajeswar Kumar, Mhmod Kadom, Sangam Shah, Gavrilo Lazovic, Ivan Rodriguez
Journal: Case Rep Emerg Med (2023)
MeSH terms: Case Reports

Cellulitis is a potentially serious bacterial skin infection. Penile cellulitis refers to the inflammation of the penile shaft and commonly occurs in uncircumcised, sexually active young adults. We reported the case of a 25-year-old heterosexual circumcised male patient with a two-day history of swelling and pain over the penile shaft. Local examination revealed a diffusely swollen penile shaft, erythematous, warm to the touch, and tender. The penile discharge culture was suggestive of a Streptococcus species infection. Ultrasonography of the penis showed increased echogenicity of the left side of the penile shaft soft tissue with a markedly increased Doppler signal, indicating cellulitis. Based on these findings, the patient was diagnosed with cellulitis of the penis and managed with broad-spectrum antibiotics. Though history and clinical examination are sufficient to diagnose penile cellulitis, our case highlighted that ultrasound could also support the diagnosis of penile cellulitis and help rule out differentials.