OpenMed/multicare-articles huggingface dataset:
Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report
Authors: Guoliang Wang, Rui Fan, Ruirui Ji, Wenxin Zou, Daniel J Penny, Nidhy P Varghese, Yuxin Fan
Journal: BMC Pulm Med (2016)
MeSH terms: Growth Differentiation Factors / genetics, Hypertension, Pulmonary / genetics, Mexican Americans / genetics, Case Reports, Research Support, Non-U.S. Gov't, Anticoagulants / therapeutic use, Antihypertensive Agents / therapeutic use, Bosentan, Child, Preschool, Codon, Nonsense, Epoprostenol / analogs & derivatives, Epoprostenol / therapeutic use, Growth Differentiation Factor 2, Homozygote, Humans, Hypertension, Pulmonary / drug therapy, Male, Sildenafil Citrate / therapeutic use, Sulfonamides / therapeutic use, Vasodilator Agents / therapeutic use, Warfarin / therapeutic use, Anticoagulants, Antihypertensive Agents, Codon, Nonsense, GDF2 protein, human, Growth Differentiation Factor 2, Growth Differentiation Factors, Sulfonamides, Vasodilator Agents, Warfarin, Sildenafil Citrate, Epoprostenol, Bosentan, treprostinil

Background:
Pulmonary arterial hypertension (PAH) is a rare, progressive, fatal vascular disorder. Genetic predisposition plays vital roles in the development of PAH, with most mutations being identified in genes involved in the transforming growth factor beta (TGF-β) signaling pathways. Defects in the BMP9 gene have been documented in hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, which is occasionally associated with PAH. Selective enhancement of endothelial BMPR2 with BMP9 reverses pulmonary arterial hypertension.
Case presentation:
We report the case of a 5-year-old Hispanic boy who was diagnosed with severe PAH and right heart failure at 3 years of age. During his stay in the pediatric intensive care unit, treatment was initiated with inhaled nitric oxide and intravenous epoprostenol; he subsequently was transitioned to treprostinil, sildenafil, and prophylactic enoxaparin. Now, two years later, the child is asymptomatic on sildenafil, bosentan, subcutaneous treprostinil, and warfarin. Genetic screening revealed a novel homozygous nonsense mutation in the BMP9 gene (c.76C > T; p.Gln26Ter). The child had no telangiectasias or arteriovenous malformations; family history also was negative. Subsequent parental testing showed both parents were heterozygous for the same mutation, indicating that the child inherited the BMP9 mutant allele from each parent.
Conclusion:
To our knowledge, this is the first report of a BMP9 mutation in a patient with PAH. The homozygous nonsense mutation may account for the early onset and severity of PAH in this patient and also fit the 'two-hit' model we proposed previously. The absence of clinical symptoms for PAH in the parents may be due to incomplete penetrance or various expressivities of the BMP9 mutations. Our study expands the spectrum of phenotypes related to BMP9 mutations.
Calciphylaxis: Successful Management of a Rare Complication of Chronic Kidney Disease in Two Patients
Authors: Ibtissam Fares, Tarik Bouattar, Hadja Moussokoro Kone, Hajar Benzouina, Meryem Benbella, Naima Ouzeddoun, Rabia Bayahia, Loubna Benamar
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Calciphylaxis, or calcification uremic arteriolopathy, is a rare disease thought to occur due to arteriolar calcifications of the dermis and is responsible for ischemia with cutaneous necrosis and painful panniculitis. Its mechanism remains poorly understood which makes its management challenging and difficult to standardize. We report our management of two patients diagnosed with calciphylaxis. In one patient, calciphylaxis was mentioned upon admission given the context of preexisting secondary hyperparathyroidism and the existence of multiple risk factors. In both patients, the diagnosis was confirmed histologically. Our two observations highlight the difficulty of the diagnosis and the complexity of the therapeutic management that has been personalized according to patient characteristics and clinical evolution. Several therapeutic means can be implemented once the diagnosis is made; nevertheless, its prognosis remains pejorative despite the therapeutic advances. Broad debridement, good phosphocalcic balance control, and the correction of the risk factors top the list of any therapeutic strategy. One of the major challenges of the therapy is normalizing the calcium-phosphate balance. Thus, Cinacalcet and sodium thiosulfate appear to be promising treatments.
A rare case of orbital tuberculosis with cold abscess and frontal bone lesion
Authors: Mahdia Touati, Assoumane Ibrahim, Kadre Alio Kadre Ousmane, Muneer Al-Zekri, Ibrahim Baaré, Abdelhalim Morsli
Journal: Pan Afr Med J (2020)
Keywords: orbital, osteolytic, tuberculosis
MeSH terms: Abscess / diagnosis, Antitubercular Agents / administration & dosage, Frontal Bone / pathology, Tuberculosis, Ocular / diagnosis, Case Reports, Humans, Male, Middle Aged, Tuberculosis, Ocular / drug therapy, Antitubercular Agents

Tuberculosis is a multisystem infectious disease caused by Mycobacterium tuberculosis and a leading infectious cause of morbidity and mortality worldwide. Orbital tuberculosis is a rare form of extra pulmonary tuberculosis, even in endemic areas. It may involve the soft tissue, lacrymal gland, periosteum, or bones of the orbital wall and can extend to adjacent paranasal sinuses or intracranial cavities. The delay in diagnosis can be due to the fact that the clinical signs simulate any inflammatory disease. The diagnosis is usually based on tissue examination in histopathological evidence presenting as granulomatous lesion or presence of acid fast bacilli (AFB). The long term anti tuberculosis therapy is the effective treatment. Here we present the case of orbital tuberculosis on a young man operated in our department and who had a good outcome under anti tuberculosis drugs for 12 months.
Obstetric and Neonatal Outcome of Pregnancy in Carney Complex: A Case Report
Authors: Damian J Ralser, Brigitte Strizek, Patrick Kupczyk, Birgit Stoffel-Wagner, Julia Altengarten, Andreas Müller, Joachim Woelfle, Ulrich Gembruch, Dietrich Klingmueller, Waltraut M Merz, Anke Paschkowiak-Christes
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: carney complex, ppnad, prkar1a, cushing syndrome, hypercortisolism, metyrapone, osteoporotic fracture, pregnancy
MeSH terms: Antimetabolites / therapeutic use, Carney Complex / pathology, Cesarean Section / methods, Cushing Syndrome / physiopathology, Metyrapone / therapeutic use, Pregnancy Complications, Neoplastic / pathology, Case Reports, Adult, Carney Complex / drug therapy, Carney Complex / surgery, Female, Humans, Infant, Newborn, Pregnancy, Pregnancy Complications, Neoplastic / drug therapy, Pregnancy Complications, Neoplastic / surgery, Pregnancy Outcome, Antimetabolites, Metyrapone

Background: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome with autosomal dominant inheritance. Affected individuals present with mucocutaneous lentigines/blue nevi, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. Mutations in PRKAR1A have been identified as genetic cause of the disease. Here, we report on pregnancy, delivery and puerperium in a woman with genetically confirmed CNC and her newborn. Case: The 31 year-old gravida 5 para 1 with CNC was referred at 26 weeks of gestation. Adrenocorticotropin-independent hypercortisolism, hyperglycemia, hypertension, low serum potassium, and osteoporotic fractures were present. Treatment with metyrapone, a reversible 11-beta-hydroxylase inhibitor, was initiated. The maternal condition improved, and a 5 weeks' pregnancy prolongation could be achieved. Elective repeat cesarean section was performed at 31 weeks of gestation for recurrent vaginal bleeding. The neonate developed transient hyponatremia necessitating hydrocortisone substitution for 2 weeks. Conclusion: In our case, treatment of CNC-associated hypercortisolism in pregnancy with metyrapone was effective. Maternal side effects did not occur. The newborn presented with transient hypocortisolism most likely due to transplacental drug effect. Our case illustrates that the treatment of rare diseases in pregnancy represents a challenge requiring interdisciplinary team work.
Persistent SARS-CoV-2-positive over 4 months in a COVID-19 patient with CHB
Authors: Wenyuan Li, Beibei Huang, Qiang Shen, Shouwei Jiang, Kun Jin, Ling Ning, Lei Liu, Lei Li
Journal: Open Med (Wars) (2021)
Keywords: covid-19, sars-cov-2, case report, convalescence, coronavirus
MeSH terms: Case Reports

In recent months, the novel coronavirus disease 2019 (COVID-19) pandemic has become a major public health crisis with takeover more than 1 million lives worldwide. The long-lasting existence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has not yet been reported. Herein, we report a case of SARS-CoV-2 infection with intermittent viral polymerase chain reaction (PCR)-positive for >4 months after clinical rehabilitation. A 35-year-old male was diagnosed with COVID-19 pneumonia with fever but without other specific symptoms. The treatment with lopinavir-ritonavir, oxygen inhalation, and other symptomatic supportive treatment facilitated recovery, and the patient was discharged. However, his viral PCR test was continually positive in oropharyngeal swabs for >4 months after that. At the end of June 2020, he was still under quarantine and observation. The contribution of current antivirus therapy might be limited. The prognosis of COVID-19 patients might be irrelevant to the virus status. Thus, further investigation to evaluate the contagiousness of convalescent patients and the mechanism underlying the persistent existence of SARS-CoV-2 after recovery is essential. A new strategy of disease control, especially extending the follow-up period for recovered COVID-19 patients, is necessary to adapt to the current situation of pandemic.
Laparoscopic gastric partitioning gastrojejunostomy for an unresectable duodenal malignant tumor
Authors: Toshifumi Matsumoto, Koichi Izumi, Akio Shiromizu, Kohei Shibata, Masayuki Ohta, Seigo Kitano
Journal: J Minim Access Surg (2005)
Keywords: bypass, gastrojejunostomy, laparoscopic, palliative, unresectable
MeSH terms: Case Reports

As a palliative bypass for unresectable gastric or periampullary cancer, gastrojejunostomy (GJ) is sometimes associated with postoperative delayed gastric emptying. We report the successful laparoscopic application of this procedure in a 78-year-old man with duodenal obstruction. Computed tomography revealed a mass in the duodenum along with multiple masses in the liver. A radiological image showed an ulcerative tumour in the third portion of the duodenum occluding the lumen. He was diagnosed as having an unresectable duodenal cancer with multiple liver metastases. He needed palliative bypass surgery. Laparoscopically, the stomach was partially divided using an endoscopic autosuture device, and end-to-side GJ was performed successfully. He was given a normal diet on the fourth postoperative day, and there was no delayed gastric emptying. Laparoscopic gastric partitioning GJ is a feasible and safe procedure to prevent postoperative delayed gastric emptying in case of malignant duodenal obstruction.
Report of a Complicated Case of Couvelaire Uterus
Authors: Hamideh Parsapour, Neda Shafie, Amir Mohammad Salehi, Zeinab Assareh
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

Couvelaire uterus (CU) is a rare complication in the life-threatening placental abruption (PA) that consists of a state of blood infiltration of the uterine myometrium and serosa. The incidence is around 1% and the treatment of choice is obstetric hysterectomy, however, in some cases, close monitoring and timely decision-making can prevent hysterectomy. Herein, we present a rare and serious case of CU with uterus preservation in a young multiparous with a high-risk pregnancy.
Case Report: Large ileal intramural hematoma presenting as an intestinal obstruction in a patient on Warfarin with incidental breast cancer
Authors: Maryam Alizadeh Forutan, Fereshteh Araghian Mojarad, Nasrin Rahmani
Journal: F1000Res (2018)
Keywords: gastrointestinal tract, anticoagulant therapy, hematoma, warfarin
MeSH terms: Case Reports

Intramural hematoma of the gastrointestinal (GI) tract, which can present as abdominal pain or obstruction, can be a rare complication of oral anticoagulants, in particular Warfarin. In this case report, we describe an 81-year-old female patient presenting with abdominal pain, nausea, and vomiting with a previous history of rectorrhagia. The patient was receiving Warfarin therapy due to cardiac valve replacement for the past 8 years. Laboratory workup revealed elevated INR and anemia. Diagnosis of ileal intramural hematoma was based on ultrasound and CT scan findings. The patient was treated by conservative approaches including administration of fresh frozen plasma, cessation of oral intake, and fluid resuscitation. In CT images, a mass on the left breast and lymphadenopathy on the left axilla were also noticed. Given that most GI intramural hematomas caused by over-anticoagulation are treated non-surgically, considering a patient's drug history, especially in older patients with abdominal pain and obstruction symptoms, is of particular importance.
Adrenal crisis caused by inhaled fluticasone in an adolescent with cystic fibrosis and advanced hepatopathy: a case report
Authors: C Denne, A E Vogl-Voswinckel, A Gruebl, S Burdach
Journal: Case Rep Pulmonol (2012)

Inhaled corticosteroids are widely accepted in the treatment of cystic fibrosis. Long-term use may cause systemic complications, especially high-dose fluticasone. We report about a young man who presented with encephalopathy after excessive physical activity caused by secondary adrenal insufficiency. He recovered quickly after systemic corticosteroid replacement therapy. This problem is considered to be underdiagnosed in clinical practice.
Endovascular repair of bilateral sciatic artery aneurysm with Covera® self expandable covered stents - case report
Authors: Luisa Silveira Birck, Rodrigo Damazzini, Wiliam Perdomo Nunes, Thiago Filomena Lombard, Joel Alex Longhi
Journal: J Vasc Bras (2023)
Keywords: aneurysm, endoprosthesis, endovascular procedures, sciatica, self expandable metal stent
MeSH terms: Case Reports

A persistent sciatic artery is an embryological remnant of the internal iliac artery that occurs in 0.03% to 0.06% of the population and may develop aneurysmal degeneration. Aneurysms can lead to distal embolization with increased risk of limb loss, especially if the sciatic artery is the main arterial supply to the limb. A sciatic artery aneurysm must be treated whenever diagnosed, because of the high risk of complications. Treatment options include open, endovascular, or hybrid repair. This manuscript describes a patient with bilateral persistence of the sciatic arteries, both with aneurysmal degeneration, who underwent endovascular repair with Covera® (Bard Medical, Georgia-USA) covered stents.
Clozapine-Induced Myocarditis or Acute Coronary Syndrome? Optical Coherence Tomography to the Rescue
Authors: Ayodeji Dina, Peter Barlis, William van Gaal
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Chest pain and troponin elevation may be due to an acute coronary syndrome, myocarditis, acute cardiomyopathy, or other less common conditions. Management differs depending on the aetiology, and the pathophysiologic diagnosis has direct implications on treatment and patient outcomes. History and clinical examination is supplemented by selected investigations including the electrocardiogram, chest X-ray, echocardiography, coronary angiography, and even myocardial perfusion scintigraphy or cardiac magnetic resonance imaging. Intravascular imaging can provide important insights into the underlying mechanism of acute coronary syndromes, especially when angiography is ambiguous.
Traumatic brain injury in children: 18 years of management
Authors: Romuald Kouitcheu, Moussa Diallo, Alban Mbende, Aïcha Pape, Ernest Sugewe, Guy Varlet
Journal: Pan Afr Med J (2020)
Keywords: brain injury, ivory coast, child, surgery, traumatic
MeSH terms: Brain Injuries, Traumatic / epidemiology, Craniocerebral Trauma / epidemiology, Emergency Service, Hospital / statistics & numerical data, Case Reports, Accidental Falls / statistics & numerical data, Accidents, Traffic / statistics & numerical data, Adolescent, Brain Injuries, Traumatic / diagnostic imaging, Child, Child, Preschool, Cote d'Ivoire, Craniocerebral Trauma / diagnostic imaging, Female, Hospitalization / statistics & numerical data, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Male, Retrospective Studies, Tomography, X-Ray Computed

Traumatic brain injury in children is a common cause of emergency department admission to our institution. The aim was to summarize the management of all head injuries in children. This was a retrospective, descriptive single center study performed in the Neurosurgery Department, University Hospital Center, Yopougon-Abidjan, Ivory Coast from January 2000 to December 2017. We included all patients less than 16-years-old admitted to the emergency department and all admitted in neurosurgery department for a traumatic brain injury with a cerebral tomodensitometry and/or a magnetic resonance imaging. 292 patients were admitted in neurosurgery department during the study period. The average age of our patients was 7.8 ± 0.80 years with a male predominance (64%). Road accidents were the main causes (78.7%) followed by falls. Brain trauma was mild in 53.8% of cases, moderate in 36.8% and severe in 9.4% of cases. Initial loss of consciousness and headache were the main reasons for admission to the emergency room after the injury with a proportion of 87.6%. The oedemato-haemorrhagic contusion was the most frequent lesion found in our patients with a frequency of 33.9%. The surgery was performed in 36.9% of cases. The overall mortality of patients in the study remains high with a proportion of 13.18%. Traumatic brain injuries in children had a high mortality rate in our practice. Specialized centers should be developed to optimize their care.
The first hand transplantation in iran
Authors: A Kalantar-Hormozi, F Firoozi, M Yavari, E Arasteh, K Najafizadeh, F Rashid-Farokhi
Journal: Int J Organ Transplant Med (2013)
Keywords: hand, iran, allotransplant, composite tissue allotransplantation, forearm amputation, hand transplant
MeSH terms: Case Reports

Nowadays, hand transplantation is a very challenging procedure for surgeons and researchers worldwide. Despite many problems that may occur after this surgery, some centers continue to practice this highly sophisticated procedure. Herein, we report on a 38-year-old man who received hand transplant from a 24-year-old brain-dead man. This patient had lost his right hand from the lower one-third of forearm six years before after a trauma from a mincing machine. Team members organized pre-operative research, cadaver dissection, legal consultation, religious permission and discussion to patient. This procedure was done by 15 Khordad Plastic Surgery Transplant team on February 27, 2013 for the first time in Iran.
Transient Dyschromatopsia, Static Form Agnosia, and Prosopagnosia Observed in a Patient with Anti-NMDA Receptor Encephalitis
Authors: Ritsuo Hashimoto, Asako Tagawa, Noriyo Komori, Tomoko Ogawa, Hiroyuki Kato
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

We presented a case of a 19-year-old woman who suffered from anti-N-methyl-D-aspartate (NMDA) receptor encephalitis associated with ovarian teratoma. The patient showed a variety of higher visual symptoms which changed over the recovery phase of the disease. In chronological order, she experienced cortical blindness, amblyopia, dyschromatopsia, static form agnosia, and prosopagnosia. Among these symptoms, the most intriguing was the static form agnosia. Although she could recognize the forms of moving objects, she could not make out those of stationary ones. All of these visual symptoms were transient, implying that she might have incidentally regained the function of the distinct cortical visual areas in the time course of follow-up. This case further suggests that visual functions concerned with the perceptions of static form and form-from-motion could be dissociable and may rely on distinct brain regions.
Case report and review of the literature: Successful transition from acute continuous veno-venous hemodiafiltration therapy to chronic peritoneal dialysis in a chronically ventilated child with hypoplastic left heart syndrome following fontan
Authors: Susan D Martin, Marc B Lande, Joseph D Kuebler, Jill M Cholette
Journal: Front Pediatr (2022)
Keywords: acute kidney injury, chronic kidney disease, fontan, hemodialysis, hypoplastic left heart syndrome, peritoneal dialiysis, renal replacement therapy
MeSH terms: Case Reports

Fontan palliation depends on low pulmonary vascular resistance in order to maintain pulmonary blood flow and adequate oxygenation. This physiology results in higher central venous pressures with limited renal perfusion pressure and cardiac output. Positive pressure ventilation with mechanical ventilation increases intrathoracic pressure and raises central venous pressure and can further limit pulmonary and renal perfusion. Fluid removal with intermittent hemodialysis can be challenging in Fontan patients and can cause intolerable hypotension, however the increased abdominal filling pressures during peritoneal dialysis dwells can exacerbate systemic venous hypertension seen in Fontan patients and threaten adequate pulmonary blood flow and cardiac output. Successful transition to peritoneal dialysis in a chronically ventilated patient with hypoplastic left heart syndrome, end-stage renal disease and Fontan physiology has not been described. We present details outlining the successful transition across multiple modalities of renal replacement therapy to assist other teams faced with similar challenges in chronically ventilated Fontan patients with end-stage renal disease.
Congenital radioulnar synostosis presenting in adulthood - a case report
Authors: Mohammed Hamid Karrar Alsharif, Juman Mahmoud Almasaad, Khalid Mohammed Taha, Abubaker Yousif Elamin, Nagi Mahmoud Bakhit, Mohammed Ahammed Noureddin, Abair Awadalla Ahmed Mahdi
Journal: Pan Afr Med J (2020)
Keywords: congenital, radioulnar, synostosis
MeSH terms: Abnormalities, Multiple / diagnostic imaging, Elbow Joint / diagnostic imaging, Foot Deformities, Congenital / diagnostic imaging, Hand Deformities, Congenital / diagnostic imaging, Syndactyly / diagnostic imaging, Case Reports, Abnormalities, Multiple / physiopathology, Female, Foot Deformities, Congenital / physiopathology, Hand Deformities, Congenital / physiopathology, Humans, Radiography, Syndactyly / physiopathology, Young Adult, Radio-ulnar synostosis type 1

Congenital radioulnar synostosis is a rare developmental skeletal malformation of the upper limb, characterized by the fusion of the proximal ends of the radius and ulna from birth. The failure of prenatal longitudinal segmentation of the adjacent radius and ulna results in a fibrous bony bridge between the radius and ulna. We present a 23-year-old female who presented with pain and restricted mobility of the left elbow joint for 7 years. A plain X-ray was performed for the patient, revealing a diagnosis of congenital radio-ulnar synostosis. Careful evaluation of the anatomical relations and spatial orientation of bony structures is required for the diagnosis and treatment of such cases.