OpenMed/multicare-articles huggingface dataset:
Retroperitoneal Ganglioneuroma: Mimicking an ovarian mass in a child
Authors: Hayrünisa Kahraman Esen, Osman Esen, Cesim Irsi
Journal: Pak J Med Sci (2015)
Keywords: ganglioneuroma, retroperitoneum, sympathetic nervous system
MeSH terms: Case Reports

Ganglioneuroma are rare, benign neural tumor of sympathetic nervous system originating from neural crest sympathogonia. Pelvic ganglioneuromas may mimic ovarian masses. We present a patient operated with the diagnosis of ovarian tumor which had a pelvic gangliuoneuroma.
Case:
An eleven-year old female patient complaining of abdominal pain and a mass was seen at our hospital. On examination a 10×10 cm mass was palpable in the pelvis. Laboratory parameters were all normal and the tumor markers such as β-HCG, AFP, CEA, serum catecholamines were negative. Abdominal ultrasonography and computed tomography showed an 11×6×9 cm solid mass containing calcification. The preoperative diagnosis was an adnexal mass of ovary. The patient was operated under general anesthesia and we found a retroperitoneal mass attached to the spine at L5. The tumoral mass was completely excised. Histopathological examination of tumor was reported as ganglioneuroma. The patient was discharged on seventh day of hospitalization with no neurological deficit. Retroperitoneal ganglioneuromas are usually present with local mass a benign tumoral course. The preoperative diagnosis may be difficult in pelvic ganglioneuromas due to close similarity with the ovarian masses. The treatment of the ganglioneuroma is total surgical excision and histology provides a confirmatory diagnosis.
Successful venous angioplasty of superior vena cava syndrome after heart transplantation
Authors: Thomas Strecker, Iris Zimmermann, Marco Heinz, Johannes Rösch, Abbas Agaimy, Michael Weyand
Journal: Case Rep Cardiol (2014)

Introduction. For patients with terminal heart failure, heart transplantation (HTX) has become an established therapy. Before transplantation there are many repeated measurements with a pulmonary artery catheter (PAC) via the superior vena cava (SVC) necessary. After transplantation, endomyocardial biopsy (EMB) is recommended for routine surveillance of heart transplant rejection again through the SVC. Case Presentation. In this report, we present a HTX patient who developed a SVC syndrome as a possible complication of all these procedures via the SVC. This 35-year-old Caucasian male could be successfully treated by balloon dilatation/angioplasty. Conclusion. The SVC syndrome can lead to pressure increase in the venous system such as edema in the head and the upper part of the body and further serious complications like cerebral bleeding and ischemia, or respiratory problems. Balloon angioplasty and stent implantation are valid methods to treat stenoses of the SVC successfully.
Ocular involvement and blindness secondary to linear IgA dermatosis
Authors: Cinthya Ramos-Castellón, Gabriela Ortiz-Nieva, Fernando Fresán, Leonardo Villalvazo, Yonathan Garfias, Alejandro Navas, María C Jiménez-Martínez
Journal: J Ophthalmol (2010)
MeSH terms: Case Reports

A 43-year-old man with linear immunoglobulin A (IgA) dermatosis associated with gluten intolerance presented with progressive vision loss, pain and photosensitivity in both eyes. His visual acuity was light perception (LP) in both eyes. A physical examination revealed bullous, papular lesions with erythematous borders in periocular tissues, limbs, and thorax. Slit-lamp examination showed conjunctival hyperemia, fibrosis, corneal opacification, and vascularization with epithelial defects. Immunofluorescent skin and corneal surface biopsy studies showed linear IgA deposits. The patient was treated with keratolimbal allogenic transplantation and cryopreserved amniotic membrane in the right eye. Regardless of the treatment he persisted with torpid evolution developing retinal and choroidal detachments. After these events he was started on intravenous immune globulin (IVIG) and showed very slight improvement in ocular surface. These types of blistering diseases are rare in the eye. Even when adequate local treatment is given, systemic treatment is mandatory and ocular prognosis can be unsatisfactory.
Vertical Guided Bone Regeneration with Mineralized Cancellous Bone Allograft in a Severe Anterior Maxillary Defect: A Clinical Report with 14-Year Follow-Up
Authors: Gerardo La Monaca, Nicola Pranno, Giorgio Pompa, Susanna Annibali, Iole Vozza, Maria Paola Cristalli
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Purpose:
To report the supracrestal bone regeneration of approximately 10 mm using solvent-dehydrated mineralized cancellous bone allograft and nonresorbable membrane in rehabilitation of unsuccessful implants in the anterior maxilla and stability of the regenerated bone at the 14th-year follow-up.
Case presentation:
A 24-year-old female patient with a history of anterior dentoalveolar trauma resulting in the loss of upper left incisors and canine underwent rehabilitation several years ago with three implant-supported fixed prostheses. The prosthesis was both functionally and aesthetically inadequate, and the patient complained of gingival swelling, bleeding, and food impaction at the site of the implants. A staged approach for retreatment was planned, wherein the first surgical stage aimed at removing the existing implants and preparing the bone ridge and soft tissues for the augmentation procedure. The second stage was vertical ridge augmentation and simultaneous prosthetic-driven placement of two new implants at the sites of the left central incisor and canine. After nine months of uneventful healing, complete regeneration of the bony defect was achieved, and the new prosthetic rehabilitation satisfied both functional and aesthetic requirements.
Conclusion:
The therapeutic approach followed in the present case proved effective in achieving satisfactory functional and aesthetic results and in maintaining the stability of the regenerated bone at 14 years of follow-up.
Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report
Authors: Ying Yu, Cuiyun Li, Wei Li, Liting Chen, Dan Wang, Jie Wang, Jian Wang, Ruen Yao
Journal: Front Pediatr (2022)
Keywords: satb1, anti-epileptic drugs, epilepsy, neurodevelopmental delay, protein-truncating variants
MeSH terms: Case Reports

SATB1 variants causing developmental delay with dysmorphic facies and dental anomalies have been reported in a small cohort. Most patients present epilepsy as a main clinical feature in neurodevelopmental disorders; however, its treatment is unknown. Here, we present a Chinese patient with a de novo truncating variation in SATB1 who presented with mild developmental delay. We disclose the detailed anti-epileptic pharmacological treatment that enabled a favorable outcome. Our study provides important information that may aid clinicians in the prognosis and treatment of rare neurological developmental disorders caused by gene mutations.
Fascinating Case Presentation of Moyamoya Disease in Children and Adults
Authors: Logesh Rajamani, Siddharth Tewari, Rajeswaran Rangasami
Journal: Cureus (2023)
Keywords: imaging, ivy sign, moyamoya disease, moyamoya syndrome, puff of smoke, vasculitis
MeSH terms: Case Reports

Moyamoya disease is a rare idiopathic disease characterized by progressive stenosis and collateral development of the distal internal carotid arteries. It is mainly seen in East Asia and is the most common cause of stroke in Asian children. However, it is rare in the Indian subcontinent. We present three exciting cases of moyamoya disease with varied clinical presentations in one pediatric, one young adult, and one older patient.
Facial Angioedema after the first dose of Covishield (adenovirus-vectored severe acute respiratory syndrome coronavirus 2 vaccine): follow-up after the second and third booster doses
Authors: Walter de Araujo Eyer-Silva, Lidiane Simões de Carvalho Paes Leme
Journal: Rev Soc Bras Med Trop (2022)
MeSH terms: Angioedema / chemically induced, COVID-19 / prevention & control, ChAdOx1 nCoV-19 / adverse effects, Case Reports, Adenoviridae, Antibodies, Viral, Female, Follow-Up Studies, Humans, Middle Aged, SARS-CoV-2, Vaccination / adverse effects, Antibodies, Viral, ChAdOx1 nCoV-19

Mass vaccination campaigns are essential to control the ongoing novel severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2) pandemic. The Covishield vaccine consists of the replication-deficient simian adenovirus vector ChAdOx1, which contains the full-length structural spike protein of SARS-CoV-2. Occasionally, it can lead to cutaneous reactions that contribute to fear of vaccination, hesitancy, and incomplete vaccination schedules. We report a case of facial angioedema following the first dose of Covishield in a 63-year-old woman with no previous history of allergies or hypersensitivity to drugs or vaccines. No rebound of angioedema was recorded after the second homologous and third heterologous doses.
Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy
Authors: Lena Alotaibi, Amal Alqasmi
Journal: Glob Med Genet (2023)
Keywords: exome, tmem106, hypomyelinating leukodystrophies, mutation
MeSH terms: Case Reports

Hypomyelinating leukodystrophies are one of the white matter disorders caused by a lack of myelin deposition in the central nervous system (CNS). Here, we report the first case of hypomyelinating leukodystrophy in the Middle East and Saudi Arabia. This condition is caused by a mutation in the TMEM106B gene (HLD16; MIM 617964). Hypotonia, congenital nystagmus, delayed motor development, and delayed speech are the main clinical manifestations. The affected patient has mild pyramidal syndrome, a mild intellectual disability, ataxic gait, hyperreflexia, intention tremor, dysmetria, and other motor difficulties. Findings from neuroimaging reveal severe, ongoing, and diffuse hypomyelination identified via the whole exome sequencing, a harmful missense mutation in the TMEM106B gene that is heterozygous. The patient is the offspring of two unrelated persons. The protein's cytoplasmic domain contains a variation that is located in highly conserved residues. In an oligodendroglial cell line, the mutant protein significantly lowered the mRNA production of important myelin genes, decreased branching, and increased cell mortality. TMEM106B is abundantly expressed in neurons and oligodendrocytes in the CNS and is localized in the late endosome and lysosome compartments. TMEM106B levels can be controlled at the transcriptional level through chromatin modification, at the mRNA level through miRNAs, and at the protein level through lysosomal functions. Our findings reveal a novel role of zinc homeostasis in oligodendrocyte development and myelin production and show that variations in TMEM163 induce hypomyelination leukodystrophy.
Melnick-Needles syndrome associated with growth hormone deficiency: a case report
Authors: Leyla Akın, Erdal Adal, Mustafa Ali Akın, Selim Kurtoğlu
Journal: J Clin Res Pediatr Endocrinol (2009)
Keywords: growth hormone deficiency, melnick−needles syndrome
MeSH terms: Dwarfism, Pituitary / complications, Human Growth Hormone / deficiency, Osteochondrodysplasias / complications, Case Reports, Child, Dwarfism, Pituitary / genetics, Facies, Female, Humans, Osteochondrodysplasias / diagnosis, Osteochondrodysplasias / genetics, Phenotype, Human Growth Hormone

Melnick-Needles syndrome is an X-linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About fifty cases of Melnick-Needles syndrome have been reported to date. Short stature is not a well-known component of the disorder. There is only one reported case of Melnick-Needles syndrome associated with growth hormone deficiency. A six-year-old girl who presented to our clinic with short stature was diagnosed as Melnick-Needles syndrome based upon characteristic clinical and radiological findings. Two different stimulation tests demonstrated growth hormone deficiency. Presenting this second case of Melnick-Needles syndrome associated with growth hormone deficiency, we suggest that this association may be coincidental, but that it may also be a consequence of craniofacial abnormalities or an independent component of the disorder.
A Case of Invasive Pneumococcal Infection with Septic Shock and Rare Complications
Authors: John R Woytanowski, Nausheen Hakim, Caytlin Deering, Sara Schultz
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Invasive pneumococcus is a serious illness with potentially devastating outcomes. A 64-year-old female with a medical history of psoriatic arthritis and diabetes was transferred from an outside hospital for ventilator dependent respiratory failure and altered mental status. She initially presented with worsening back pain and was found to have leukocytosis with bandemia and acute renal failure but she was in septic shock upon arrival to our tertiary care center. Her blood cultures grew Streptococcus pneumoniae and MRI of the brain revealed pus within the posterior lateral ventricles and multiple infarcts. MRI of the spine revealed a psoas abscess. Transesophageal echocardiogram revealed mitral valve vegetation and her right eye developed endogenous endophthalmitis. She was treated with intravenous and intravitreal antibiotics and underwent drainage of the abscess with no improvement in mental status. Repeat imaging revealed multiple new thalamic, basal ganglia, and parietal lobe infarcts likely from septic emboli. After a protracted ICU stay, the patient's family opted for comfort care. The incidence of invasive pneumococcal infections has declined rapidly since the advent of antibiotics and vaccines. With the growing incidence of antibiotic resistance as well as the emergence of new immunomodulating drugs for various pathologies, there is a concern that invasive infections will reemerge. Ventriculitis and endogenous endophthalmitis are very rare complications of pneumococcal bacteremia.
Endoscopic retrograde appendicitis therapy in the management of chronic fecalith appendicitis in a patient with ulcerative colitis: The first human case report
Authors: Muhammad Zulqarnain, Guangxing Cui, Wen Lyu, Haitao Huang, Xia Wang, Hamse Mohamoud Abdi, Lingfei Gu, Shijie Fang, Fangzhou Liu, Liqian Ling
Journal: Front Immunol (2023)
Keywords: active ulcerative colitis, antibiotics, chronic fecalith appendicitis, endoscopic retrograde appendicitis therapy (erat), inflammation
MeSH terms: Appendicitis / complications, Appendicitis / surgery, Colitis, Ulcerative / complications, Fecal Impaction / complications, Case Reports, Endoscopy, Humans, Male, Middle Aged

To assess the effectiveness of endoscopic retrograde appendicitis therapy (ERAT) as a new technique and method for chronic fecalith appendicitis complicated by active ulcerative colitis. A 46-year-old male patient was admitted with right iliac fossa pain, tenderness, and raised inflammatory markers. A computed tomography (CT) scan of his abdomen confirmed a dilated appendix, which is considered chronic fecalith appendicitis combined with active ulcerative colitis. He was treated with an endoscopic retrograde appendicitis therapy procedure. The patient recovered well after the ERAT procedure and was discharged from the hospital in two days. On follow-up one year later, there was no recurrence of pain in his abdomen. In conclusion, ERAT could be seen as a different approach and be favored as a safer and more effective option in treating UC patients with appendicitis, especially those who are later in the course of the disease. Because of the ERAT procedure, such cases can avoid surgery and surgery-related complications. More research and issues must be addressed to demonstrate the efficacy and effectiveness of ERAT in appendicitis combined with UC.
Borders as Crossroads: The Diverging Routes of Herbal Knowledge of Romanians Living on the Romanian and Ukrainian Sides of Bukovina
Authors: Giulia Mattalia, Nataliya Stryamets, Anya Grygorovych, Andrea Pieroni, Renata Sõukand
Journal: Front Pharmacol (2021)
Keywords: carpathians, cross-border, cross-cultural, local medicine, ethnomedicine, knowledge transfer, plant-based remedies

Cross-border and cross-cultural ethnomedicine are novel ways to address the evolution of local ecological knowledge. As is widely acknowledged, ethnomedicinal knowledge is not static, but evolves according to several factors, including changes in ecological availability and socioeconomic conditions, and yet the effect of the political context on medicinal knowledge remains largely underexplored. Bukovina, a small region of Eastern Europe that has been divided by a border since the 1940s and is currently part of both Romania and Ukraine, represents a unique case study in which to address the impact of political contexts on ethnomedicinal knowledge. The aim of this study was to compare plant-based medicinal uses among Romanians living on the two sides of the Romanian-Ukrainian border. In addition, we performed cross-cultural and cross-border analysis with published data on the ethnomedicine of the neighboring ethnolinguistic group of Hutsuls. We conducted 59 semistructured interviews with conveniently selected Romanians living in both Romanian and Ukrainian Bukovina. We elicited preparations for treating different ailments and disorders by naming each part of the body. We also asked about the sources of this medicinal knowledge. We documented the medicinal use of 108 plant taxa belonging to 45 families. Fifty-four taxa were common to both Romanian communities; 20 were only found among Romanians living in Romania and 34 only among Romanians living in Ukraine. However, the number of recorded uses was higher among Romanians living in Romania, revealing that they make consistent use of local medicinal plants, and Romanians living in Ukrainian Bukovina use more taxa but less consistently. Comparison with the data published in our study on neighboring Hutsuls shows that medicinal knowledge is more homogeneous among Hutsuls and Romanians living in Ukraine, yet many similar uses were found among Romanian communities across the border. We argue that the 50 years during which Ukrainian Bukovina was part of the USSR resulted in the integration of standard pan-Soviet elements as evidenced by several plant uses common among the groups living in Ukraine yet not among Hutsuls and Romanians living in Romania.
Recharging Difficulty With Pulse Generator After Deep Brain Stimulation: A Case Series of Five Patients
Authors: Hongyang Li, Daoqing Su, Yijie Lai, Xinmeng Xu, Chencheng Zhang, Bomin Sun, Dianyou Li, Yixin Pan
Journal: Front Neurosci (2021)
Keywords: parkinson’s disease, deep brain stimulation, hardware complication, implanted pulse generator, rechargeable battery

Background: Deep brain stimulation (DBS) is a well-established treatment for a variety of movement disorders. Rechargeable cell technology was introduced to pulse generator more than 10 years ago and brought great benefits to patients. However, with the widespread use of rechargeable implanted pulse generators (r-IPGs), a new hardware complication, when charging the r-IPG has been difficult, was encountered. Objective: The aims of this study were to report five cases confronted with r-IPG charging difficulty postoperatively and to explore the predisposing factors and treatment strategies for this rare complication. Methods: We retrospectively reviewed our DBS patient database for those who were implanted with r-IPGs. From 2012, we identified a total of 1,226 patients, with five of them experiencing charging difficulties after surgery. Detailed patient profiles and clinical procedures were scrutinized and reviewed. Results: All the charging problems were resolved by reoperation. Cases 1 and 2 required their r-IPGs to be anchored to the muscle and fascia. Cases 3 and 4 had their r-IPGs inserted in the wrong orientation at the initial surgery, which was resolved by turning around the r-IPGs at the revision surgery. Case 5, in which we propose that the thick subcutaneous fat layer blocked the connection between the r-IPG and the recharger, required a second operation to reposition the r-IPG in a shallow layer underneath the skin. For all cases, the charging problems were resolved without reoccurrences to date. Conclusion: Our case series indicates a novel hardware complication of DBS surgery, which had been rarely reported before. In this preliminary study, we describe several underlying causes of this complication and treatment methods.
Case report: Diagnosis of Talaromyces marneffei infection in an HIV-negative patient with septic shock and high-titer anti-interferon gamma autoantibodies by metagenomic next-generation sequencing
Authors: Rao Du, Yinhe Feng, Hui Mao
Journal: Front Cell Infect Microbiol (2023)
Keywords: hiv-negative patient, talaromyces marneffei, anti-interferon gamma autoantibodies, metagenomic next-generation sequencing, septic shock
MeSH terms: Mycoses / diagnosis, Sepsis / drug therapy, Shock, Septic / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Adult, Antifungal Agents / therapeutic use, Autoantibodies, Female, HIV Seronegativity, High-Throughput Nucleotide Sequencing, Humans, Interferon-gamma, Neoplasm Recurrence, Local / drug therapy, Talaromyces, Antifungal Agents, Autoantibodies, Interferon-gamma, talaromycosis

Background:
Sepsis is a life-threatening condition caused by a dysfunctional response to infection from the host. Septic shock, a subset of sepsis, caused by Talaromyces marneffei infection (talaromycosis) has rarely been reported. Owing to its slow culture and low yield, talaromycosis is typically misdiagnosed in HIV-negative patients as other infections, such as tuberculosis, bacterial pneumonia, and lung cancer, especially in non-endemic regions. Early and accurate diagnosis as well as efficient treatment options are required to improve prognosis.
Method:
A 30-year-old HIV-negative Chinese woman from a non-endemic area of T. marneffei was initially misdiagnosed with tuberculosis. She had a poor response to anti-tuberculosis treatment. On July 16, 2022, she was admitted to our hospital; the patient developed septic shock on the third day after hospitalization and was ultimately diagnosed with talaromycosis via metagenomic next-generation sequencing (mNGS).
Result:
The condition of the patient improved after appropriate treatment with amphotericin B. Furthermore, enzyme-linked immunosorbent assay results confirmed that the patient had a high-titer of anti-interferon gamma (IFN-γ) autoantibodies.
Conclusion:
HIV-negative individuals with anti-IFN-γ autoantibodies typically have relapsing, refractory, and fatal infections, such as talaromycosis, which is typically misdiagnosed in the initial course of the disease. This can lead to septic shock. Clinicians should be aware that they may encounter HIV-negative patients with T. marneffei infection in non-endemic areas. Thus, mNGS is an effective technology for detecting T. marneffei infection. Additionally, the detection of anti-IFN-γ autoantibodies in these patients would aid in knowing their susceptibility to fatal infections.