OpenMed/multicare-articles huggingface dataset:
Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient
Authors: Maha Alotaibi, Ali Aldossari, Imran Khan, Leena Alotaibi
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Spondyloepiphyseal dysplasia (SEDKF) is a rare skeletal dysplasia associated with kyphosis and low bone mineral density, significantly delayed growth, and skeletal deformities. Blood lysosomal enzyme levels have also been shown to be elevated with a delay in development. The first variant described was compound heterozygosity for mutations in the MBTPS1 gene: a 1-bp duplication and a missense mutation. In the current study, we examined a Saudi consanguineous family. Clinical features like spondyloepiphyseal dysplasia, indicative of characteristic skeletal abnormalities, and impaired cognitive abilities were observed. Our patient has dysmorphic facial features, short stature, and significant skeletal deformities. A homozygous missense MBTPS1 (c.2634C > A p. (Ser878Arg)) with unknown significance was discovered in the whole exome; pathogenic MBTPS1 variants cause the autosomal recessive Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF, OMIM®: 618392). The whole exome sequence, which described a homozygous missense variant of unknown clinical significance (VUS, class 3 variant) in the MBTPS1 gene, was heterozygous in both asymptomatic parents. We are mindful that changing the classification of a variant of unknown significance is challenging. Considering clinical phenotypes and radiological findings produced by the pathogenic mutation in the MBTPS1 gene, the identified c.2634C > A variant is supported and may be categorized as likely pathogenic based on clinical symptoms.
Use of Ceftolozane-Tazobactam in Patient with Severe Medium Chronic Purulent Otitis by XDR Pseudomonas aeruginosa
Authors: L M Saraca, C Di Giuli, F Sicari, G Priante, F Lavagna, D Francisci
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

We present a case of a male Italian patient of 66 years with a history of kidney transplantation in treatment with cyclosporine and methylprednisolone. He visited an ENT clinic and was diagnosed as chronic left purulent otitis media. He began at-home antibiotic therapy with poor benefit. On 09/13/18, he was admitted to the hospital "S. Maria "of Terni for persistence of left ear pain and complete hearing loss. Magnetic resonance imaging (MRI) of the brain showed "in correspondence of the petrous rock and the mastoid…presence of flogistic tissue." Auricular swabs and later surgical drainage of the purulent material were performed and both were positive for extensively drug-resistant (XDR) Pseudomonas aeruginosa sensitive only to colistin in absence of synergism with rifampin. The patient underwent antibiotic therapy with ceftolozane-tazobactam, a new generation cephalosporin with anti-Pseudomonas activity and a β-lactamase inhibitor, that currently is indicated for the treatment of complicated urinary tract infections and complicated intra-abdominal infections, with complete healing. In literature, it is described a series of 12 patients with severe MDR (multidrug-resistant) Pseudomonas aeruginosa infections (6 pneumonia) who received salvage therapy with ceftolozane-tazobactam after inappropriate empirical and/or suboptimal treatment. This study included a case of a male patient of 45 years, affected by Burkitt lymphoma and severe neutropenia, who presented with otitis and mastoiditis, and isolation of Pseudomonas aeruginosa in surgical drainage of the purulent material of the ear (blood cultures were negative). He underwent antibiotic therapy with ceftolozane-tazobactam at a dosage of 3 g/8 h for 21.3 days. The patient was healed, but a late recurrence was described because of isolation of ceftolozane-tazobactam-resistant Pseudomonas after therapy. The possibility of acquiring resistance to ceftolozane-tazobactam should be considered in patients with previous exposure to beta-lactams and with poor response to these antibiotics.
Could Sporadic Creutzfeldt-Jakob Disease Be Underdiagnosed in China? Experience From Four Cases
Authors: Yi-Liu Zhang, Xiao-Mei Wu, Yang Chen, Wen-Ping Gu, Wei Lu
Journal: Front Neurol (2020)
Keywords: creutzfeldt-jakob disease, prpsc, neuroinfectious disease, prion disease, rapidly progressive dementia
MeSH terms: Case Reports

Background: Creutzfeldt-Jakob Disease (CJD) is a rapidly progressive neurodegenerative disease caused by the misfolded version of the cellular prion protein. Here we report four cases of sporadic CJD (sCJD) and describe the diagnostic methods available in order avoid missed or delayed recognition of CJD in China. Case presentation: We report four patients diagnosed with sCJD between March 2018 and December 2019 at Xiangya Hospital and the Second Xiangya Hospital of Central South University. All patients were admitted to the hospital because of a progressive cognitive decline. Although their routine tests and biochemical indicators in the cerebrospinal fluid (CSF), as well as computed tomography (CT) imaging, did not reveal any apparent abnormalities, the presence of "cortical ribboning" was incidentally found on diffusion-weighted imaging (DWI). The patients were subsequently diagnosed with CJD based on positive testing for 14-3-3 protein in their CSF, and the presence of periodic sharp and slow wave complexes (PSWCs) on their electroencephalograms (EEG). Additionally, two of patients was confirmed pathological examination of cerebral biopsies demonstrating neuronal loss, gliosis, and spongiform changes. Conclusions: CJD is a rare disease and is easily misdiagnosed by clinician in China due to a lack of recognition and awareness of CJD. Based on our experience described in this report, enhanced vigilance for CJD is required for patients with rapidly progressive dementia in China and other developing countries. DWI, EEG and detection of 14-3-3 protein in CSF should be performed in order to achieve a timely diagnosis of CJD.
The World Health Organization's Actions Within the United Nations System to Facilitate a Whole-of-Society Response to COVID-19 at Country Level
Authors: Gina Samaan, Michelle McPherson, Johan Eidman, Offeibea Obubah, Jean-Pierre Baptiste, Lianne Kuppens, Kai Von Harbou, Miftahul Fahmi Sembiring, Shambhu Acharya, Peter Graaff
Journal: Front Public Health (2022)
Keywords: covid-19, united nations, world health organization, country, pandemic, response, whole-of-society
MeSH terms: COVID-19, Global Health, Humans, Pandemics, SARS-CoV-2, World Health Organization

The coronavirus disease (COVID-19) pandemic highlighted that managing health emergencies requires more than an effective health response, but that operationalizing a whole-of-society approach is challenging. The World Health Organization (WHO), as the lead agency for health within the United Nations (UN), led the UN response at the global level through the Crisis Management Team, and at the country level through the UN Country Teams (UNCTs) in accordance with its mandate. Three case studies-Mali, Cox's Bazar in Bangladesh, and Uzbekistan-provide examples of how WHO contributed to the whole-of-society response for COVID-19 at the country level. Interviews with WHO staff, supplemented by internal and external published reports, highlighted that the action of WHO comprised technical expertise to ensure an effective whole-of-society response and to minimize social disruption, including those affecting peacekeeping in Mali, livelihood sectors in Cox's Bazar, and the education sector in Uzbekistan. Leveraging local level volunteers from various sectors led to both a stronger public health response and the continuation of other sectoral work. Risk communication and community engagement (RCCE) emerged as a key theme for UN engagement at country level. These collective efforts of operationalizing whole-of-society response at the country level need to continue for the COVID-19 response, but also in preparedness for other health and non-health emergencies. Building resilience for future emergencies requires developing and exercising multi-sectoral preparedness plans and benefits from collective UN support to countries. Coronavirus disease had many impacts outside of health, and therefore emergency preparedness needs to occur outside of health too.
Cerebellar Infarction in a 9 Year Old Child Presenting with Fever and Ataxia: A Case Report
Authors: Mohammad Vafaeeshahi, Nazanin Azizishalbaf, Leila Tahernia
Journal: Iran J Child Neurol (2019)
Keywords: ataxia, case report, cerebellar, infarction, mri
MeSH terms: Case Reports

Cerebellar acute ischemic stroke (AIS) can be a complication of minor head trauma, vertebral artery dissection, vasospasm or systemic hypoperfusion. CT scan usually is negative few hours after acute infarction. Magnetic resonance imaging (MRI) is superior to CT scan for posterior fossa lesions and also in acute phase of cerebellar stroke especially in children. Here we report a 9 yr old girl referred to the Pediatric Emergency Room, Moosavi Hospital, Zanjan, Iran in January 2017 presenting with sudden onset of headache and recurrent vomiting, ataxia, and history of 3 consecutive days of fever and malaise. In the report of MRI, there were abnormal low T1 and high T2 signal intensity in left cerebellar hemisphere involving superior and middle cerebellar peduncles. After 4 days of admission, the patient became drowsy, symptoms progressed and transferred to the pediatric intensive care unit (PICU). The patient underwent hemispherectomy surgery of the left cerebellar hemisphere because of acute obstructive hydrocephaly. After 5 months of occupational therapy, the force of her extremities was normal and the ataxia completely disappeared. Childhood acute ischemic stroke although rare can happen with cerebellar involvement. Because in our patient the first brain CT scan was nearly normal and a false negative rate for initial computed tomography (CT) scanning of 60%-80% also contributes to missed and delayed diagnosis of childhood AIS, for every child presenting with acute ataxia without identified cause in addition to CT scan, MRI also being ordered and from the beginning besides other causes, stroke be contemplated as a cause of ataxia.
Novel Techniques with the Aid of a Staged CBCT Guided Surgical Protocol
Authors: Evdokia Chasioti, Mohammed Sayed, Howard Drew
Journal: Case Rep Dent (2015)

The case report will present some novel techniques for using a "staged" protocol utilizing strategic periodontally involved teeth as transitional abutments in combination with CBCT guided implant surgery. Staging the case prevented premature loading of the grafted sites during the healing phase. A CBCT following a tenting screw guided bone regeneration procedure ensured adequate bone to place an implant fixture. Proper assessment of the CBCT allowed the surgeon to do an osteotome internal sinus lift in an optimum location. The depth of the bone needed for the osteotome sinus floor elevation was planned. The staged appliance allowed these sinus-augmented sites to heal for an extended period of time compared to implants, which were uncovered and loaded at an earlier time frame. The staged protocol and CBCT analysis enabled the immediate implants to be placed in proper alignment to the adjacent fixture. After teeth were extracted, the osseointegrated implants were converted to abutments for the transitional appliance. Finally, the staged protocol allowed for soft tissue enhancement in the implant and pontic areas prior to final insertion of the prosthesis.
Cross clamping of the supraceliac aorta is effective for bleeding control in ruptured giant splenic artery pseudoaneurysm when proximal and distal control of the splenic artery is not possible: a case report
Authors: Venu Bhargava Mulpuri, Prashanth Gurijala, Bhaskar Reddy Yerolla, Ramavath Krishna, Ananya Pandey, Gopinath Ramachandran
Journal: J Vasc Bras (2022)
Keywords: dsa digital subtraction angiography, pancreatitis, pseudoaneurysm, pseudocyst, splenic artery, visceral aneurysm
MeSH terms: Case Reports

Splenic artery pseudoaneurysm is the most common of all the visceral artery pseudoaneurysms. Presentation is often variable and the condition demands immediate diagnosis and management because pseudoaneurysm rupture increases morbidity and mortality. It is associated with pancreatitis and other conditions like abdominal trauma, chronic pancreatitis, pseudocyst of the pancreas, liver transplantation, and, rarely, peptic ulcer disease. We present a case of a giant splenic artery pseudoaneurysm measuring 14x8 cm. Proximal and distal control of the vessels could not be achieved during the procedure because of local adhesions and inflammation and it was necessary to cross clamp the supraceliac aorta to control bleeding.
Small Split Doses of CD34+ Peripheral Blood Stem Cells to Support Repeated Cycles of Nonmyeloablative Chemotherapy
Authors: Maxim Yankelevich, Sureyya Savasan, Igor Dolgopolov, Roland Chu, George Mentkevich
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Cumulative myelosuppression is the main limiting factor for administration of repeated cycles of chemotherapy. We present a case series of five pediatric patients with high-risk solid malignancies who received small split peripheral blood stem cells (PBSC) doses of less than 1 × 106/kg CD34+ cells obtained after a single leukapheresis procedure and given after repeated cycles of ICE (ifosfamide, carboplatin, and etoposide) chemotherapy. Mean duration to absolute neutrophil count (ANC) recovery to >1000/mm3 and platelet recovery to >50 × 103/mm3 was 17.1 and 24.3 days. Using split doses of PBSC prevented prolonged neutropenia after repeated cycles of submyeloablative chemotherapy.
Giant Intrahepatic Subcapsular Haematoma: A Rare Complication following Laparoscopic Cholecystectomy-A Case Report and Literature Review
Authors: Eltaib Saad, Lauren O'Connell, Anne M Browne, W Khan, R Waldron, K Barry, Iqbal Z Khan
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

We report on a 59-year-old female with symptomatic cholelithiasis on a background of morbid obesity who underwent an elective LC with an uncomplicated intraoperative course; however, she experienced a refractory hypotension within one hour postoperatively with an acute haemoglobin drop requiring fluid resuscitation and blood transfusion. A triphasic computed tomography scan revealed a large intrahepatic subcapsular haematoma (ISH) measuring 21 cm × 3.1 cm × 17 cm surrounding the lateral surface of the right hepatic lobe without active bleeding. She was managed conservatively with serial monitoring of haemoglobin and haematoma size. A follow-up ultrasound scan after eight weeks confirmed complete resolution of the haematoma. Giant ISH is a fairly rare, but life-threatening complication following LC which merits special attention. This case demonstrates the necessity of close postoperative monitoring of patients undergoing LC and considering the possibility of ISH, although being rare event, in those who experience a refractory postoperative hypotension. It also highlights the decisive role of diagnostic imaging in securing a timely and accurate diagnosis of post LC-ISH.
Renal medullary carcinoma: case report of an aggressive malignancy with near-complete response to dose-dense methotrexate, vinblastine, Doxorubicin, and Cisplatin chemotherapy
Authors: Ali Imran Amjad, Hira Ali, Leonard J Appleman, Jodi Maranchie, Stephen Jackman, Anil Parwani, Rajiv Dhir, Somak Roy, Rahul A Parikh
Journal: Case Rep Oncol Med (2014)

Renal medullary carcinoma (RMC) is a rare but aggressive malignancy affecting young individuals with sickle cell trait. Renal medullary carcinoma commonly presents with advanced or metastatic disease and is associated with a rapidly progressive clinical course and an extremely short overall survival measured in weeks to few months. Due to the rarity of RMC, there is no proven effective therapy and patients are often treated with platinum-based chemotherapy. We report near-complete radiological and pathological response in a patient treated with dose-dense MVAC (methotrexate, vinblastine, doxorubicin, and cisplatin) chemotherapy. The patient underwent consolidation nephrectomy and retroperitoneal lymph node dissection and had a 16-month progression-free survival, one of the longest reported in patients with RMC.
Fetal adrenal suppression due to maternal corticosteroid use: case report
Authors: Selim Kurtoğlu, Dilek Sarıcı, Mustafa Ali Akın, Ghaniya Daar, Levent Korkmaz, Şeyma Memur
Journal: J Clin Res Pediatr Endocrinol (2011)
MeSH terms: Adrenal Insufficiency / chemically induced, Methylprednisolone / therapeutic use, Pregnancy Complications, Hematologic / drug therapy, Case Reports, Adrenal Insufficiency / therapy, Female, Humans, Infant, Newborn, Methylprednisolone / adverse effects, Pregnancy, Purpura, Thrombocytopenic, Idiopathic / drug therapy, Methylprednisolone

During pregnancy, steroids are usually used in maternal diseases such as adrenal failure or other autoimmune diseases, e.g. idiopathic thrombocytopenic purpura (ITP), Crohn's disease, systemic lupus erythematosus, dermatomyositis, scleroderma, Addison's disease and hyperemesis gravidarum, HELLP syndrome. Endogenous or exogenousmaternal steroids are metabolized by the placental enzyme 11 beta-hydroxy steroid dehydrogenase type 2. Prednisolone and methylprednisolone are highly sensitive to this enzyme, while dexamethasone and betamethasone are less well metabolized. Steroids which can cross the placental barrier are administered in cases like fetal lupus, congenital adrenal hyperplasia and for enhancement of fetal lung maturation, whereas steroids used in maternal diseases are usually the ones with low affinity to the placenta; however, in case of long-term use or in high doses, placental enzyme saturation occurs and thus, resulting in fetal adrenal suppression. Antenatal steroids can lead to low birth weight, as observed in our patient. Here, we report a case with fetal adrenal suppression due to maternal methylprednisolone use presenting with early hypoglycaemia and late hyponatremia in neonatal period and requiring three-month replacement therapy.
Simultaneous Laparoscopic Surgery for Bladder Diverticulum and Urachal Remnant: A Case Report
Authors: Masaki Murata, Kohei Inui, Moto Hasegawa, Yohei Ikeda, Yuki Nakagawa, Noboru Hara, Tsutomu Nishiyama
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

A 44-year-old woman visited a hospital with microscopic hematuria in June 2009. Computed tomography showed a large bladder diverticulum at right lateral wall and urachal remnant. Cystoscopic examination showed a large diverticulum at the right lateral wall that closes to the dome. She was followed up closely without therapeutic intervention; however, the residual urine increased gradually and frequent bladder diverticulitis developed. She underwent laparoscopic bladder diverticulectomy and excision of the urachal remnant simultaneously without any complications in August 2017. Laparoscopic approach for a large bladder diverticulum and urachal remnant is useful with safe, effective, and minimally invasive.
Graves' disease associated with cerebrovascular disease and antiphospholipid antibody syndrome
Authors: Ines Khochtali, Nadia Hamza, Elyes Gassab, Asma Baba, Maha Kacem, Mahbouba Frih, Sylvia Mahjoub
Journal: Int J Endocrinol (2010)
MeSH terms: Case Reports

Thyroid disorders are commonly associated with coagulopathy. Patients with hyperthyroidism have increased risk for developing thromboembolic accidents, which are favoured by a simultaneous presence of antiphospholipid antibodies syndrome. in this paper, we describe the case of a patient with Graves' disease, who developed strokes with antiphospholipid antibodies syndrome.
Gastric Medullary Carcinoma: A Rare Case Report
Authors: Ferit Aslan, Fisun Ardıç Yükrük, Fatma Buğdaycı Başal, Ayşe Durnalı
Journal: Case Rep Oncol Med (2016)

A case of 64-year-old female patient with early stage gastric medullary carcinoma has been presented, along with a review of the literature.
Intestinal obstruction: a rare complication of channeling transurethral resection of the prostate (TURP): a case report
Authors: A A Popoola, K A Onawola, M D Adesina, I O Olaoye
Journal: J Med Case Rep (2008)

Introduction:
Channeling transurethral resection of the prostate is a recognized form of adjunctive treatment in the treatment of patients with prostate cancer. Despite the fact that complications arising from the procedure have been on the decline, rare complications like intestinal obstruction may occur.
Case presentation:
This is a case report of a 56 year old man who developed mechanical intestinal obstruction few days after a channeling TURP for advanced CaP.
Conclusion:
The report highlights the possibility of intestinal obstruction as a secondary event following a silent urinary bladder perforation during channeling TURP. Early recognition and intervention were responsible for the good outcome in this patient.
Acute Pancreatitis and Splenic Vein Thrombosis due to Hypertriglyceridemia
Authors: Ercan Gündüz, Recep Dursun, Mustafa İçer, Yılmaz Zengin, Cahfer Güloğlu
Journal: Case Rep Gastrointest Med (2015)

Acute pancreatitis (AP) is a condition characterised by the activation of the normally inactive digestive enzymes due to an etiological factor and digestion of the pancreatic tissues, resulting in extensive inflammation and leading to local, regional, and systemic complications in the organism. It may vary from the mild edematous to the hemorrhagic and severely necrotising form. The most common causes are biliary stones and alcohol abuse. In this case study, we would like to present a patient with AP due to hypertriglyceridemia (HPTG), which is a rare cause of pancreatitis, and splenic vein thrombosis, which is a rare complication of pancreatitis.
Ehlers-Danlos Syndrome: Not Just Joint Hypermobility
Authors: Tina Bregant, Milica Klopcic Spevak
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Ehlers-Danlos syndrome is an umbrella term for a group of heritable soft connective tissue disorders which is characterized by joint hypermobility, skin texture and elasticity abnormalities, and visceral and vascular fragility or dysfunctions. As the syndrome is rare, it is often underdiagnosed. Patients usually present late, with chronic moderate to severe pain which is attributed to the joint hypermobility and joint subluxations. If the clinician is aware of the syndrome, he/she can identify affected patients in order to prevent complications. We report a 60-year-old woman with arthralgia and back pain lasting for several months and recent metatarsophalangeal luxation of the left toe who was discovered to have Ehlers-Danlos syndrome.
Primary intraosseous squamous cell carcinoma of the maxilla possibly arising from an infected residual cyst: A case report
Authors: Shintaro Sukegawa, Hidenobu Matsuzaki, Naoki Katase, Takahiro Kanno, Toshiko Mandai, Yuka Takahashi, Jun-Ichi Asaumi, Yoshihiko Furuki
Journal: Oncol Lett (2015)
Keywords: computed tomography, primary intraosseous squamous cell carcinoma, residual cyst

Primary intraosseous squamous cell carcinoma (PIOSCC) is a rare type of odontogenic carcinoma arising from the jawbone. Odontogenic cysts are true cysts that arise from the dental epithelium, which is associated with tooth formation. The epithelial lining of odontogenic cysts has the potential to transform into various types of odontogenic tumor; however, this transformation from an odontogenic cyst to a malignant tumor is rare. The definitive diagnosis for PIOSCC generally requires the observation of either features of squamous cell carcinoma (SCC) within the jawbone that are distinct from direct invasion from the surface oral epithelium, or evidence of SCC arising from odontogenic epithelium and from tumors that have metastasized to the jawbone from distant sites. In the present study, a case of PIOSCC of the maxilla is presented, which, based on the results of computed tomography and the clinical course, was hypothesized to have originated from an infected residual cyst.