OpenMed/multicare-articles huggingface dataset:
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency
Authors: A Dernoncourt, J Bouchereau, C Acquaviva-Bourdain, C Wicker, P De Lonlay, C Gourguechon, H Sevestre, P-E Merle, J Maizel, C Brault
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Background:
Multiple acyl-coA dehydrogenase deficiency (MADD) is a rare, inherited, autosomal-recessive disorder leading to the accumulation of acylcarnitine of all chain lengths. Acute decompensation with cardiac, respiratory or hepatic failure and metabolic abnormalities may be life-threatening.
Case presentation:
A 29-year-old woman presented with severe lactic acidosis associated with intense myalgia and muscle weakness. The clinical examination revealed symmetric upper and lower limb motor impairment (rated at 2 or 3 out of 5 on the Medical Research Council scale) and clear amyotrophy. Laboratory tests had revealed severe rhabdomyolysis, with a serum creatine phosphokinase level of 8,700 IU/L and asymptomatic hypoglycemia in the absence of ketosis. Electromyography revealed myotonic bursts in all four limbs. The absence of myositis-specific autoantibodies ruled out a diagnosis of autoimmune myositis. Finally, Acylcarnitine profile and gas chromatography-mass spectrometry analysis of organic acids led to the diagnosis of MADD. A treatment based on the intravenous infusion of glucose solutes, administration of riboflavin, and supplementation with coenzyme Q10 and carnitine was effective. Lipid consumption was strictly prohibited in the early stages of treatment. The clinical and biochemical parameters rapidly improved and we noticed a complete disappearance of the motor deficit, without sequelae.
Conclusion:
A diagnosis of MADD must be considered whenever acute or chronic muscle involvement is associated with metabolic disorders. Acute heart, respiratory or hepatic failure and metabolic abnormalities caused by MADD may be life-threatening, and will require intensive care.
Unusual Sites of Cutaneous Tuberculosis: A Report of Two Cases
Authors: Dimple Chopra, Vishal Chopra, Aastha Sharma, Siddharth Chopra, Shivali Aggarwal, Deepak Goyal
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Cutaneous tuberculosis (CTB) is an uncommon small subset of extrapulmonary tuberculosis, comprising 1-1.5% of all extrapulmonary tuberculosis manifestations, which manifests only in 8.4-13.7% of all tuberculosis cases. Lupus vulgaris (LV) and tuberculosis verrucosa cutis (TBVC) are forms of reinfection tuberculosis and often occur in presensitized patients, by exogenous inoculation. We report two cases of cutaneous tuberculosis at unusual sites. A 35-year-old female having a forehead lesion for 2 years was diagnosed as having tuberculosis verrucosa cutis and another 16-year-old girl with lesion in left axilla for 10 years was proven to have lupus vulgaris. The delayed diagnosis was possibly due to lower clinical suspicion due to the presentation of CTB at unusual sites. This highlights the importance of keeping TB as an important differential as misdiagnosis or delayed diagnosis of this entity can lead to prolonged morbidity.
Changes in Composition of the Gut Bacterial Microbiome after Fecal Microbiota Transplantation for Recurrent Clostridium difficile Infection in a Pediatric Heart Transplant Patient
Authors: Kyle L Flannigan, Taylor Rajbar, Andrew Moffat, Leanna S McKenzie, Frank Dicke, Kevin Rioux, Matthew L Workentine, Thomas J Louie, Simon A Hirota, Steven C Greenway
Journal: Front Cardiovasc Med (2017)
Keywords: fecal microbiota transplant, heart transplantation, immunosuppression, microbiome, pediatric
MeSH terms: Case Reports

The microbiome is increasingly recognized as an important influence on human health and many of the comorbidities that affect patients after solid organ transplantation (SOT) have been shown to involve changes in gut bacterial populations. Thus, microbiome changes in an individual patient may have important health implications after SOT but this area remains understudied. We describe changes in the composition of the fecal microbiome from a pediatric heart transplant recipient before and >2.5 years after he underwent repeated fecal microbiota transplantation (FMT) for recurrent Clostridium difficile infection (CDI). With both documented episodes of CDI, there was marked loss of bacterial diversity with overgrowth of Proteobacteria (>98.9% of phyla identified) associated with symptomatic colitis that was corrected after FMT. We hypothesize that a second CDI occurring after FMT was related to incomplete restoration of normal bowel flora post-FMT with relative deficiencies of the phyla Firmicutes and Bacteroidetes and the families Lachnospiraceae and Ruminococcaceae. Following the second FMT, there was a gradual shift in gut bacterial composition coincident with the recipient developing lymphonodular hyperplasia of the colon and painless hematochezia that resolved with discontinuation of mycophenolate mofetil (MMF). This case documents dynamic changes in the bacterial microbiome after FMT and suggests that MMF may influence the gut microbiome with consequences for the patient.
Distraction osteogenesis in a severe mandibular deficiency
Authors: Kerim Ortakoglu, Seniz Karacay, Metin Sencimen, Erol Akin, Aykut H Ozyigit, Osman Bengi
Journal: Head Face Med (2007)
MeSH terms: Facial Asymmetry / surgery, Mandible / abnormalities, Mandibular Diseases / surgery, Osteogenesis, Distraction / methods, Case Reports, Humans, Male, Mandible / surgery, Mandibular Diseases / congenital, Young Adult

Objective:
Distraction osteogenesis is an alternative treatment method for the correction of mandibular hypoplasia. In this case report, distraction with a multidirectional extraoral device was performed to gradually lengthen the corpus and ramus of a patient who had a severe hypoplastic mandible.
Materials and methods:
The patient underwent bilateral extraoral ramus and corpus distraction osteogenesis. After seven days of latency period, distraction was performed 0.5 mm twice a day. Subsequent consolidation period was 12 weeks.
Results:
The patient's mandible was elongated successfully. Cephalometric analysis revealed that ANB angle decreased from 13 degrees to 6 degrees , overjet of 15 mm decreased to 4 mm, corpus length increased from 49 mm to 67 mm, and ramus length increased from 41 mm to 43 mm. Posterior airway space (PAS) also increased due to advancement of the mandible. In stereolithographic model evaluation it was determined that the distances from condylion to gonion and from gonion to pogonion increased.
Conclusion:
Satisfactory results from both aesthetic and functional standpoints were obtained by distraction osteogenesis of the ramus and corpus.
Primary extranodal, extralymphatic hodgkin lymphoma of the mandible
Authors: Guido Ricardo Gonzalez-Fontal, Joaquin D Rosales, Roberto Jaramillo, Andres F Henao-Martinez
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Primary extranodal, extralymphatic Hodgkin lymphomas (PEEHLs) are a rare occurrence. When they are encountered, they become diagnostic challenges. We are describing the uniqueness of a case of PEEHL affecting the mandible with his early response to the available chemotherapy.
Button Battery-Induced Necrotizing Keratoconjunctivitis: Case Report
Authors: Nima Koosha, Leila Babaei, Mohsen Pourazizi
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

We report a case of a 2-year-old girl who presented to the ocular emergency department with a button battery retained in the inferior fornix of the left eye for more than 48 hours. The child developed necrotizing keratoconjunctivitis, which was treated with antibiotics, amniotic membrane graft, prompt removal of button battery, and other supportive measures.
Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes
Authors: Owen Ngalamika, Wencilaus M P Selvaraj, Fatima K Yikona, Chibamba Mumba
Journal: Case Rep Dermatol Med (2021)
MeSH terms: Case Reports

Acrodermatitis enteropathica (AE) is a rare disorder arising from inherited or acquired zinc deficiency. It is mainly characterized by acral dermatitis, periorificial dermatitis, alopecia, and gastrointestinal symptoms in the form of diarrhea. There are many complications of AE including local and systemic infections that may develop as a result of untreated AE. In addition, due to the role of zinc in glucose metabolism, chronic zinc deficiency may pose a challenge in the control of blood glucose levels in diabetics. We report the case of a 28-year-old male with type 1 diabetes who presented with signs and symptoms of AE.
Ectodermal dysplasia - Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature
Authors: Sanjeev N Deshpande, Vikas Kumar
Journal: Indian J Plast Surg (2010)
Keywords: alveolar reconstruction, dental implants, ectodermal dysplasia
MeSH terms: Case Reports

Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth. Oral rehabilitation is the major surgical challenge in such patients. It frequently requires alveolar reconstruction followed by dental implants. We report a case of hypohidrotic ectodermal dysplasia, which was managed with reconstruction of both the upper and the lower alveolus using free fibula flaps with dental rehabilitation using osseointegrated implants.
Two cases of hard metal lung disease showing gradual improvement in pulmonary function after avoiding dust exposure
Authors: Hiroya Terui, Satoshi Konno, Kichizo Kaga, Yoshihiro Matsuno, Kanako C Hatanaka, Hiromi Kanno, Hiroshi Moriyama, Motohiro Uo, Masaharu Nishimura
Journal: J Occup Med Toxicol (2015)
Keywords: avoidance, balf, dust exposure, hard metal lung disease, pulmonary function
MeSH terms: Case Reports

We present herein two cases of hard metal lung disease (HMLD) with distinct pathological findings. Both cases showed gradual improvements in pulmonary function over a period of a few years (Case 1: 30 months; Case 2: 12 months) after the avoidance of dust exposure, while improvements on high-resolution computed tomography were modest. The increased lymphocytes and decreased CD4/CD8 ratio in BALF observed at initial diagnosis normalized after the avoidance of dust exposure in one case. To the best of our knowledge, this is the first report demonstrating continual follow-up of pulmonary function and radiographic findings, and a comparison of BALF findings before and after avoidance of hard metal dust exposure.
Osteofibrous dysplasia-like adamantinoma: A case report and literature review
Authors: Jian-Wei Li, Lei Miao, Zhen-Guo Zhao, Lin Yang, Zhuo Shi, Meng Li
Journal: Front Oncol (2022)
Keywords: bone tumor, computed tomography, magnetic resonance imaging, osteofibrous dysplasia-like adamantinoma, plain radiography
MeSH terms: Case Reports

Abstract background:
Osteofibrous dysplasia-like adamantinoma (OFD-like adamantinoma), classical adamantinoma and dedifferentiated adamantinoma were previously considered to be three subtypes of adamantinoma of long bones. In the 5th edition of the World Health Organization (WHO) classification of bone tumors in 2020, OFD-like adamantinoma was newly proposed and classified as an intermediate-locally aggressive tumor in other mesenchymal tumors of bone. OFD-like adamantinoma is rare, accounting for only 0.4% of all primary bone tumors. OFD-like adamantinoma is often misdiagnosed due to the insufficient understanding of it. Here we report a case of OFD-like adamantinoma treated in our hospital with a literature review.
Case presentation:
The patient, a 14-year-old male, had swelling in his right leg with intermittent pain for one year. Plain radiography, computed tomography (CT) and magnetic resonance imaging (MRI) were performed. Based on the radiological and histological examinations, a diagnosis of OFD-like adamantinoma was suspected. After admission, the patient underwent tumor resection of the right tibia, free transplantation of the left fibula and internal fixation. After resection of the tumor, the wound recovered well, the vital signs were stable, and activity was normal. The patient has been followed up for more than a year with no recurrence or distant metastasis.
Conclusion:
OFD-like adamantinoma is a rare primary bone tumor with nonspecific clinical features. Imaging examination can demonstrate the lesion and help diagnosis. The pathological discovery of epithelioid tissue is the key evidence for diagnosis.
Intercostal lung herniation secondary to thoracotomy: a case report
Authors: Samira Mhamdi, Ines Aouini, Salsabil Daboussi, Houaida Mahfoudhi, Mehdi Ben Lassoued, Manel Kallel, Zied Moetamri, Chiraz Aichaouia, Islem Mejri, Mohsen Khadhraoui, Rzaieg Cheikh
Journal: Pan Afr Med J (2020)
Keywords: hernia, chest, lung, surgery
MeSH terms: Hernia / etiology, Lung Diseases / etiology, Thoracotomy / adverse effects, Case Reports, Hernia / diagnostic imaging, Humans, Lung Diseases / diagnostic imaging, Male, Middle Aged, Pulmonary Emphysema / diagnostic imaging, Pulmonary Emphysema / etiology, Thoracotomy / methods, Tomography, X-Ray Computed

Intercostal lung herniation is defined as a protrusion of the lung parenchyma through a defect in the intercostal muscles between adjacent ribs. The authors report a case of intercostal pulmonary hernia in a 45-year-old male patient, with smoking habit (30 packs-year), presented to the emergency department with dyspnea. He had the history of pulmonary emphysema complicated with a total right pneumothorax in 2015 treated by mini-thoracotomy with bullectomy and pleural abrasion. In 2019, he was admitted to hospital for left chest pain. The computed tomography (CT) scan of the chest revealed a bilateral emphysema with intercostal lung hernia through the fourth intercostal space the patient underwent, a left thoracotomy with repair of the intercostal muscle defect. He was discharged from hospital free of complications.
Climate change in the Catalan Pyrenees intersects with socioeconomic factors to shape crop diversity and management
Authors: Joana Blanch-Ramirez, Laura Calvet-Mir, Laura Aceituno-Mata, Petra Benyei
Journal: Agron Sustain Dev (2022)
Keywords: adaptation, agricultural industrialization, agrobiodiversity, home gardens, landraces, traditional ecological knowledge

Most studies on climate change's impacts on agriculture focus on modeling techniques based on large-scale meteorological data, while few have investigated how farmer's perception of climate change's impacts can affect crop diversity and crop management practices, especially in industrialized contexts. To fill this gap, we conducted 24 semi-structured interviews in a study site located in the Catalan Pyrenees. Our results show for the first time in an industrialized context that farmers perceive multiple interrelated climate change impacts on local agroecosystems. For instance, snowfall and freeze events have decreased, which respondents associated with the increase of pests and diseases affecting both wild flora and cultivated plants. Similarly, changes in precipitation patterns lead to a perceived decrease in useful rain for agriculture. Farmers are also reporting changes in their management practices, such as increased irrigation or use of pesticides, which respond to these climatic factors but also to changes in the crops that are cultivated. Crop diversity is in decline in the area both at the species and landrace levels, especially in rainfed fields. This is mainly driven by socioeconomic factors such as agricultural abandonment or access to commercial seeds, although climate change factors such as increased pests or decreased rainfall can have an impact. Despite the crop diversity losses found, many landraces have been maintained, mainly due to their cultural value, and also new crop species have been introduced, which are now viable due to the increase in temperature. Although we focused on a specific case study, we found several trends that are also present in other contexts. Therefore, the results of this research are relevant at a global scale since they show that climate change is affecting mountain agroecosystems in industrialized contexts and may affect more drastically both agrobiodiversity and crop management practices in agroecosystems worldwide.
Supplementary information:
The online version contains supplementary material available at 10.1007/s13593-022-00806-3.
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
Authors: Eva Maria Christina Schwaibold, Mateja Smogavec, Elke Hobbiebrunken, Lorenz Winter, Barbara Zoll, Peter Burfeind, Knut Brockmann, Silke Pauli
Journal: Mol Cytogenet (2014)
Keywords: array cgh, ehmt1, haploinsufficiency, intragenic duplication, ks, kleefstra syndrome
MeSH terms: Case Reports

Background:
Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34.
Results:
We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1.
Conclusions:
This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome.
Laparoscopic cholecystectomy in a patient with previous pneumonectomy: a case report and discussion of anaesthetic considerations
Authors: Dash Faith Newington, Sanaa Ismail
Journal: Case Rep Anesthesiol (2014)

Increasing numbers of patients require cholecystectomy after previous pneumonectomy, but there are little data to guide anaesthetic management. A laparoscopic approach is associated with less postoperative respiratory compromise than open cholecystectomy but may be relatively contraindicated due to the undesirable effects of pneumoperitoneum on respiratory function. We describe the case of a 72-year-old patient who successfully underwent elective laparoscopic cholecystectomy 23 years after left pneumonectomy. An understanding of the combined physiological consequences of pneumonectomy and pneumoperitoneum facilitated the provision of safe and uneventful anaesthesia. We propose that laparoscopic cholecystectomy is feasible and safe to perform in patients with a single lung.
COVID-19 in children: a case series from Nigeria
Authors: Olayinka Rasheed Ibrahim, Bello Mohammed Suleiman, Abdallah Sanda, Taofeek Oloyede, Surajudeen Oyeleke Bello, Umar Ibrahim Bello, Shamsudeen Yahaya, Adamu Dawud, Sulaiman Saidu Bashir
Journal: Pan Afr Med J (2020)
Keywords: covid-19, nigerian children, clinical features, laboratory findings
MeSH terms: COVID-19 / complications, Lymphocytosis / virology, Pneumonia, Viral / virology, Case Reports, Age Factors, Child, Child, Preschool, Female, Humans, Infant, Male, Nigeria, Retrospective Studies

Introduction:
The global spread of COVID-19 remains unabated in the past few months with a rise in the number of available literature on the novel virus. There are very few paediatric studies and are mainly from developed countries with a paucity of information on the clinical manifestation of COVID-19 disease in African children, including Nigeria.
Methods:
We described the clinical presentation, laboratory findings, treatment and outcome in a group of five Nigerian children managed at a COVID-19 isolation and treatment centre in Nigeria.
Results:
We managed a total of five children with an age range of 3 months to 8 years in the last four weeks (16th April to 15th May 2020). Three of the five children were males. All the children had close contact with family members that tested positive for COVID-19. Out of the five children, one had moderate disease, three had mild symptomatic disease, and one was asymptomatic. Two out of the five children had lymphocytosis. Out of the four children who had chest radiograph, two had features of pneumonia.
Conclusion:
COVID-19 is not uncommon in Nigerian children, and all had a confirmed family member with COVID-19. Besides, contrary to leucopaenia with lymphopaenia observed in the adult's population, we found lymphocytosis in this cohort and about 50.0% had pneumonic changes on chest radiograph.
Slightly Symptomatic Cerebral Amyloid Angiopathy-Related Inflammation with Spontaneous Remission in Four Months
Authors: Syuichi Tetsuka, Ritsuo Hashimoto
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare variant of CAA with autoimmune inflammation. A 77-year-old female experienced light-headedness during walking and mild ataxic gait without any other objective neuropsychological deficits. Brain magnetic resonance imaging (MRI) revealed an area of abnormal signal and mild parenchymal swelling in the right parietal lobe, indicating vasogenic edema. T2⁎-weighted gradient echo imaging revealed some subcortical microbleeds in the same lesion. Based on the proposed criteria for CAA-ri, she was diagnosed with probable CAA-ri. After 4 months, the spontaneous improvement was noted in the patient's clinical and radiological findings. This report presents a rare and atypical case of CAA-ri in which the diagnosis was established after the patient underwent neuroimaging for only mild neurological symptoms, and the patient's clinical and radiological findings displayed spontaneous improvement. Despite typical and striking MRI findings of CAA-ri, this patient only presented a minimal symptom; this dissociation could highlight the significance of not misinterpreting any new neurological symptoms. Thus, increased availability of MRI and growing awareness of CAA-ri might result in more incidentally diagnosed cases in the future. Furthermore, this case suggests that it would be better to strictly monitor the clinical-radiological findings of patients with probable CAA-ri who only present with minimal symptoms without the initiation of immunosuppressive therapy.
A case report of recurrent leiomyosarcoma with chondrosarcoma differentiation in the abdominal wall and a review of the literature
Authors: Xuan Zuo, Wei L Wu, Peng Shi, Tian M Liu, Na Yu, Lei Li
Journal: Pathol Oncol Res (2023)
Keywords: case report, chondrosarcoma, heterologous differentiation, leiomyosarcoma, recurrence
MeSH terms: Abdominal Wall / pathology, Abdominal Wall / surgery, Bone Neoplasms / surgery, Chondrosarcoma / pathology, Chondrosarcoma / surgery, Leiomyosarcoma / pathology, Leiomyosarcoma / surgery, Review, Case Reports, Adult, Female, Humans

Leiomyosarcoma with heterologous differentiation is relatively rare. To date, only 19 cases have been reported in the English literature. Heterologous components frequently show histological pleomorphism, while those exhibiting well-differentiated morphology are seldom reported. Here, we report a 34-year-old female diagnosed with leiomyosarcoma and developed abdominal wall recurrence 8 years after primary surgery. The recurrent tumor mainly comprised well-differentiated chondrosarcoma except a single focus of leiomyosarcoma. Due to the rarity and prolonged onset of such a transition, our case provides insight into the understanding of this phenomenon.