OpenMed/multicare-articles huggingface dataset:
Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B
Authors: Mei Xue
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: case report, genetic analysis, neurological injury, prenatal diagnosis, pyruvate carboxylase deficiency
MeSH terms: Acidosis, Lactic, Pyruvate Carboxylase Deficiency Disease / diagnosis, Pyruvate Carboxylase Deficiency Disease / genetics, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Muscle Hypotonia, Pregnancy, Pyruvate Carboxylase / genetics, Seizures, Pyruvate Carboxylase

Background:
Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive metabolic disease and is divided into three types. Type B PCD is clinically featured by lactic acidosis, hyperammonemia, hypercitrullinemia, hypotonia, abnormal movement, and seizures.
Case presentation:
Here, we report the first case of type B PCD in China, presenting with intractable lactic acidosis shortly after birth. A compound heterozygous mutation in the PC gene was identified by whole-exome sequencing, NM_001040716.2: c.1154_1155del and c.152G>A, which were inherited from her asymptomatic parents, respectively. Furthermore, prenatal neuroradiological presentations including widened posterior horns of lateral ventricles, huge subependymal cysts, and increased biparietal diameter and head circumference were concerned. Symptomatic treatment was taken and the infant died at 26 days.
Conclusion:
To our knowledge, this is the minimum gestational age (22w5d) that's when the prenatal onset of the neuroradiologic phenotype of PCD was observed. PCD has a poor prognosis and lacks an effective treatment, so this paper is shared to highlight the importance of PCD prenatal diagnosis in the absence of family history.
Perceptions of Contextual Stressors in Physical Education. A Qualitative Case Study
Authors: Eli-Karin Sjåstad Åsebø, Helga S Løvoll, Rune Johan Krumsvik
Journal: Front Sports Act Living (2020)
Keywords: case study, lower secondary school, physical education (pe), stressors, students' experiences

Background: Daily stressors have a significant impact on students' educational outcomes. However, research on students perceived and common contextual stressors in physical education (PE) lessons is limited. Purpose: To identify potential contextual stressors in PE contexts and what students perceive as stressors. Participants: Ninth-grade students (age 14-15) and their PE teachers recruited from three classes in one lower secondary school in Norway. Research Design: This qualitative case study used data generated from descriptive field notes from participant observations in PE lessons, formal interviews and informal conversations with PE teachers, focus group and individual interviews with students, and a supplementary survey using the TurningPoint student response system. Conversations were transcribed verbatim and analyzed using reflexive thematic analysis (Braun and Clarke, 2006; Tolmie et al., 2011; Braun et al., 2019) and the NVivo 12 Pro analysis software. The survey was analyzed using IBM SPSS Statistics 21. Findings: This study supports and expands previous research exploring students' stressors in PE and highlights the volume and variety of potential stressors in PE contexts. The findings shed light on certain similarities and differences that may exist between students of different genders and grades and with different past physical activity experiences. In the present study, spectators, in addition to difficult tasks and low self-efficacy, seemed particularly stressful for girls. This article presents nuances revealed by various qualitative approaches and a supplementary survey. Conclusion: Students in this study experience a multitude of stressors during PE lessons. These include stressors in the teaching, physical, and social environments, as well as personal factors. The stressors experienced depend on the situation, the lesson content, the parties involved, students' past experiences, and their appraisal of these stressors. In our sample, girls seemed to be more vulnerable to contextual stressors in PE than boys.
Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
Authors: Carol M Stephens, Andreea M Pavel, Sean R Mathieson, Niamh McSweeney, Brian McNamara, Michael Moore, Geraldine B Boylan
Journal: HRB Open Res (2022)
Keywords: neonatal seizures, pallister-killian syndrome, electroencephalography (eeg), epilepsy
MeSH terms: Case Reports

Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy is a known complication, with onset usually occurring in early childhood and characterised most commonly by spasms and myoclonic seizures. To the best of our knowledge, there have been no cases describing the early neonatal EEG in PKS and electrographic seizures, to date. Here, we report two cases of PKS presenting in the neonatal period with distinctive EEG features and seizures.
Case Report: High Doses of Intravenous Immunoglobulins as a Successful Treatment for Late Onset Immune Agranulocytosis After Rituximab Plus Bendamustine
Authors: Ramon Diez-Feijóo, Juan Jose Rodríguez-Sevilla, Concepcion Fernández-Rodríguez, Solange Flores, Carmen Raya, Ana Ferrer, Luis Colomo, Antonio Salar
Journal: Front Immunol (2022)
Keywords: waldenström’s macroglobulinemia, agranulocytosis, bendamustine, immunoglobulin, rituximab
MeSH terms: Agranulocytosis / drug therapy, Antineoplastic Combined Chemotherapy Protocols / adverse effects, Immunoglobulins, Intravenous / therapeutic use, Case Reports, Aged, Agranulocytosis / chemically induced, Agranulocytosis / immunology, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Bendamustine Hydrochloride / administration & dosage, Bendamustine Hydrochloride / adverse effects, Dose-Response Relationship, Drug, Humans, Immunoglobulins, Intravenous / administration & dosage, Male, Rituximab / administration & dosage, Rituximab / adverse effects, Treatment Outcome, Waldenstrom Macroglobulinemia / drug therapy, Immunoglobulins, Intravenous, Rituximab, Bendamustine Hydrochloride

Late onset neutropenia (LON) related to rituximab or rituximab plus chemotherapy is defined as an unexplained absolute neutrophil count of ≤1.5 × 109/L starting at least four weeks after the last rituximab administration. LON is infrequent and its pathophysiology remains unknown. There are no guidelines or consensus strategies for the optimal management of patients developing LON. The majority of the patients recover promptly with no specific treatment and only some cases need to be managed with granulocytic colony stimulating factor (G-CSF), usually with a rapid response. Here, we describe a 69-year-old patient with Waldenström's macroglobulinemia who presented a septic event in the context of severe LON after rituximab plus bendamustine. The diagnosed of agranulocytosis was established by bone marrow examination. Interestingly, anti-neutrophil antibodies bound to the patient's granulocytes were found suggesting an autoimmune mechanism. The patient did not respond to G-CSF but achieved a rapid response after high doses of intravenous immunoglobulins with full white blood cell recovery.
Primary cardiac angiosarcoma diagnosed in the first trimester of pregnancy
Authors: Ethan A Burns, Amna Ahmed, Anusha Sunkara, Usman Khan, Roozbeh Sharif, Maen Abdelrahim, Michael Reardon, Barry Trachtenberg
Journal: Ecancermedicalscience (2019)
Keywords: cardiac magnetic resonance imaging, chemotherapy, echocardiography, pericardial tamponade, pregnancy, primary cardiac angiosarcoma
MeSH terms: Case Reports

Primary cardiac angiosarcoma (PCAS) is a malignancy seldom seen in pregnancy. A 23-year-old G1P0 Chinese female was found to have PCAS during her first trimester when she presented with tamponade physiology. The transthoracic echocardiography (TTE) results did not indicate the presence of an intracardiac lesion, and pericardial fluid cytology analysis showed no evidence of malignancy. Cardiac magnetic resonance imaging (CMRI) exhibited a right atrial mass, and tissue biopsy indicated a high-grade angiosarcoma. MRI of the abdomen was suggestive of liver metastasis. She underwent an abortion and was started on combination chemotherapy, with a reduction in both the cardiac and liver masses. In cardiac angiosarcomas, advanced imaging modalities such as MRI should be utilised when there is high clinical suspicion or in the case of pregnancy when trying to minimise foetal harm. Prognosis is poor, and a standardised treatment protocol regardless of pregnancy continues to elude the medical community.
Double isolated asynchronous duodenal perforation due to abdominal blunt trauma in a child: A case report
Authors: V Briganti, S Tursini, S Ianniello, A Cortese, R Faggiani
Journal: Int J Surg Case Rep (2020)
Keywords: blunt abdominal trauma, children, duodenal perforation
MeSH terms: Case Reports

Background:
Isolated duodenal perforation following blunt abdominal trauma is a rare injury in children. Bicycle accidents (falling on to the handlebar) are a frequent cause of blunt abdominal trauma in children and may occasionally be associated with isolated duodenal perforation (IDP). Prompt diagnosis and surgical treatment are vital to prevent increased morbidity and mortality.
Case presentation:
We report the rare case of an 11-year-old boy admitted for blunt abdominal trauma and treated for an asynchronous double IDP. The first perforation, located on the 2nd/3rd portion of the duodenum, was promptly diagnosed by contrast-enhanced abdominal CT scan after a negative US scan, five hours after injury, and the lesion repaired with a single stitch suture. The second duodenal perforation appeared in the duodenal bulb as a worsening biliary leakage, 48 h after the primary suture of the initial lesion. The perforation was initially seen by digestive endoscopy and sutured in the same way as the first lesion. A third laparotomy was needed 4 days later due to an intestinal obstruction, after which the patient was recovered completely and was discharged home.
Discussion and conclusion:
IDP is a rare consequence of blunt abdominal trauma, and is normally associated with a lesion of other organs, such as the pancreas or bile duct. A delayed diagnosis strongly increases the incidence of morbidity and mortality, and different kinds of surgical management have been proposed, depending on the type of lesion. To our knowledge, this is the first case described in literature of a double isolated asynchronous duodenal perforation following blunt abdominal trauma in children.
A technique to identify the axillary nerve and its cutaneous branch for triceps nerve-to-deltoid nerve transfer. A case report
Authors: Mohammad M Al-Qattan, Doaa Andejani, Ahmed Thallaj
Journal: Int J Surg Case Rep (2018)
Keywords: axillary nerve, identify, technique, triceps nerve-to-deltoid nerve transfer

Introduction:
Triceps nerve-to-deltoid nerve transfer requires the identification of the axillary nerve in the quadrilateral space. This may be difficult especially for residents-in-training. The senior author is a Professor of Hand Surgery at a teaching institution and has devised a new technique of identification of the axillary nerve and its cutaneous branch using surface land-marks and on-table ultrasonography.
Case report:
The axillary nerve and the quadrilateral space is first identified using anatomical landmarks. The ultrasound probe is the used to identify the quadrilateral space and the axillary nerve which appears as hyper-echoic oval-shaped structure. The ultrasound probe is then moved to scan the cutaneous branch of the axillary nerve as it branches-off the main nerve trunk. Finally, the cutaneous branch is traced superficially till it becomes subcutaneous. This point is marked and the skin incision is made along this marked point. During surgery, the cutaneous branch is followed retrograde to the axillary nerve in the quadrilateral space.
Discussion:
Ultrasound guidance for localization of various nerves is now routinely done by anesthetists in the Operating Room. This localization is used for nerve blocks and in patients with brachial plexus injuries. Hence, the ultrasound machine and the expertise are already available in the operating room; and no special arrangements with the Radiology Department are needed.
Conclusion:
A technique of identification of the cutaneous branch of the axillary nerve using anatomical landmarks and ultrasonography is described. The localization is accurate and is of help in patients undergoing triceps nerve-to-deltoid nerve transfer.
Stress Assignment Errors in Surface Dyslexia: Evidence from Two Italian Patients with a Selective Deficit of the Orthographic Input Lexicon
Authors: Alessia Folegatti, Lorenzo Pia, Anna Berti, Roberto Cubelli
Journal: Behav Neurol (2015)
MeSH terms: Dyslexia / psychology, Reading, Stress, Physiological / physiology, Case Reports, Research Support, Non-U.S. Gov't, Aged, Dyslexia / diagnosis, Humans, Male, Task Performance and Analysis, Verbal Learning

Surface dyslexia designates a selective impairment in reading irregular words, with spared ability to read regular and novel words, following a cerebral damage usually located in the left dominant hemisphere. In Italian language, which is regular at the segmental level, surface dyslexia is characterized by stress assignment errors. Here we report on two cases of Italian surface dyslexic patients who produced stress assignment errors, mainly in reading irregular words. In reading nonwords they usually applied the regular stress pattern. Both patients were also impaired in lexical decision and in semantic discrimination tasks when the processing of homophones was required. Our patients' performance relied almost exclusively on the phonological coding of the stimulus, revealing a deficit in accessing the orthographical input lexicon. In addition, one patient showed a cerebral lesion limited to the right thalamus, providing evidence of a possible role of the right hemisphere in the reading process.
The surprise pathology-Primary squamous cell carcinoma of the colon-A case report
Authors: Aysha Hassan Ali Husain, Kiran B Kaundinya, Faizal Hammed, Abdul Rahim Al Sayed
Journal: Int J Surg Case Rep (2020)
Keywords: case report, colon, primary, squamous cell carcinoma
MeSH terms: Case Reports

Introduction:
Primary squamous cell carcinomas are rare in the colon. Identified as colonic growths causing obstructive or ulcerative features, they are treated like usual colonic adenocarcinomas until the surprise findings on histopathology. A thorough search for possible primary with colonic metastasis is warranted prior to confirmation of diagnosis. They can coexist with adenocarcinomas and ulcerative colitis. We present this case with intent to add to existing literature the presentation and catastrophic clinical course of the disease in our patient.
Clinical findings:
The patient presented with obstructive pattern of a colonic growth with rapid weight loss. There was no family history of colonic disease and the patient did not suffer from inflammatory bowel disease.
Diagnosis and therapeutic intervention:
CT Scan of the abdomen revealed the growth which was infiltrating the abdominal musculature causing micro abscess formation. Colonoscopy was inconclusive as the growth was not passable enough to obtain enough biopsy for pathology. The patient underwent surgery for removal of tumor and the histopathology revealed the squamous cell carcinoma. Through the course of patient's recovery in hospital thorough evaluation was done to identify primary in sites mainly the urogenital tract. The patient was discharged and unfortunately succumbed to her disease at home before definitive treatment could be given.
Conclusion:
Squamous cell carcinomas in the colon warrants extensive search for the primary and coexistent adenocarcinomas or ulcerative colitis. In patients who recover from surgery, chemoradiation directed towards the pathology should be initiated to prevent rapid deterioration as in our case. Its presentation may be exophytic infiltrating surrounding structures and micro abscesses or perforations may also be encountered. We add our case report to the existing literature of primary squamous cell colon carcinoma series.
Choroid plexus carcinoma in adults: an extremely rare case
Authors: Selcuk Ozdogan, Yusuf Emrah Gergin, Sinem Gergin, Ozgur Senol, Mehmet Tiryaki, Necati Tatarli, Tufan Hicdonmez
Journal: Pan Afr Med J (2015)
Keywords: choroid plexus carcinomas, choroid plexus neoplasms in adults, choroid plexus tumors
MeSH terms: Carcinoma / diagnosis, Choroid Plexus Neoplasms / diagnosis, Magnetic Resonance Imaging / methods, Tomography, X-Ray Computed / methods, Case Reports, Age Factors, Aged, Carcinoma / pathology, Carcinoma / surgery, Choroid Plexus Neoplasms / pathology, Choroid Plexus Neoplasms / surgery, Headache / etiology, Humans, Male, Choroid Plexus Carcinoma

Choroid plexus tumors are rare intraventricular papillary neoplasms derived from choroid plexus epithelium, which account for approximately 2% to 4% of intracranial tumors in children and 0.5% in adults. Almost all choroid plexus carcinomas are seen in children and are extremely rare in adults. Headache, diplopia, and ataxia are the most common symptoms usually caused by mechanical obstruction of cerebrospinal fluid flow followed by hydrocephalus, regardless of tumor location. We present an illustrative case with 73 years old male patient who was consulted with headache to our neurosurgery department. In cranial computed tomography, there was a mass in 4(th) ventricle and we confirmed the mass with magnetic resonance imaging. After surgery had been performed, pathology specimen was diagnosed as choroid plexus carcinoma which was rarely seen in this age group.
Successful Management of Pregnancy Complicated by Klippel-Trenaunay Syndrome Using MR Angiography-Based Evaluation
Authors: Reiko Tanaka, Yasuyuki Fujita, Kana Ishibashi Hiasa, Yasuo Yumoto, Nobuhiro Hidaka, Kotaro Fukushima, Norio Wake
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

Klippel-Trenaunay syndrome (KTS) is a rare congenital disease, and extensive cutaneous hemangiomas and abnormal venous vessels are characteristic. In our case, to manage her pregnancy with KTS, whole-body MRA was performed before delivery. A 29-year-old woman was referred at 28 weeks because of prominent vulvovaginal varicosities due to KTS. At 35 weeks, hypertrophy and multiple venous varicosities of her leg as well as massive vulvovaginal varicosities became prominent with a normal coagulation profile. Systematic MRAs revealed hemangiomas and varicosities in the right leg, the lower abdomen, and the pubic region, while no obvious AVM was detected around the bronchial tube and spine. We decided to deliver her baby by cesarean section at 37 weeks under general anesthesia, and a healthy baby was delivered. No blood transfusion was required. Prophylaxis against thrombosis was performed after the operation. She was discharged with her baby. Her vulvovaginal varicosities shrunk considerably one month later.
Leiomyoma of the greater saphenous vein mimicking inguinal lymphadenopathy
Authors: Dionysios Dellaportas, Thomas Kotsis, Eleni Carvounis, Lazaros Samanides
Journal: Case Rep Surg (2013)

Introduction. Leiomyoma is a benign vascular tumor affecting the greater saphenous vein rarely. Proper histopathological examination sets the diagnosis after complete and wide surgical excision along with a normal portion of the GSV. Case Presentation. A 36-year-old woman was admitted to our hospital complaining of a dull ache on her right groin for the last three months, along with a palpable mass on the mentioned area. An ultrasound (U/S) scan revealed a solid mass measuring 3 × 2 cm. After wide surgical excision, pathological examination revealed a leiomyoma of the GSV. Discussion. Benign and mostly malignant tumors arising from the GSV are reported in the literature before. Diagnostic modalities and clinical examination cannot set a correct diagnosis preoperatively due to no specific characteristics of these tumors. Possible sarcomatous behaviour has to be kept in mind when treating tumors arising from a vessel wall and wide surgical excision as negative margins should be attempted.
Fatal Clostridium perfringens sepsis with spleen rupture and intraabdominal massive bleeding in a 37-week pregnancy
Authors: Evariste Gafumbegete, Berend Jacob van der Weide, Stefanie Misgeld, Henning Schmidt, Alaa Eldin Elsharkawy
Journal: IDCases (2021)
Keywords: clostridium perfringens (cp), intraabdominal massive bleeding, pregnancy, sepsis, spleen rupture
MeSH terms: Case Reports

The maternal death rate remains unacceptably high worldwide, predominantly in areas of poor access to quality health services. According to the WHO, in 2017, 810 women died from preventable causes related to pregnancy and childbirth. Causes of maternal death are plenty, including previous morbidity and unexpected causes. Among the latter are infectious disease-related deaths. Herein, we describe a case of a 29-year-old woman at 37 weeks' gestation who presented with right upper quadrant pain, which was initially considered to be pregnancy-related. However, she collapsed shortly after the hospital admission. The physical examination revealed severe hypovolemic shock due to a large amount of intraperitoneal free fluid. The patient was immediately rushed into an emergency cesarean section followed by exploratory laparotomy, which demonstrated a large intra-abdominal hemorrhage. The patient and her fetus died in the operating room. An autopsy revealed acute gangrenous cholecystitis along with abundant rod-shaped bacteria within the mucosa and vessels of the gallbladder, gas gangrene and rupture of the spleen, and signs of shock. Clostridium perfringens (CP) was isolated in the culture of a splenic sample. Although CP is a well-known and dreadful infectious etiological agent, catastrophic cases still happen. The acquaintance of this infection by the caregivers is crucial for the early diagnosis and treatment. This is a quite unique way to provide a dismal chance of survival in sepsis cases by this agent.
Papillary fibroelastoma revealed by an acute coronary syndrome with transient ST segment elevation: a case report
Authors: Saïd Makani, Amal Haoudar, Abderahmane Al Bouzidi, Chafik Elkettani, Mahdi Ait Houssa
Journal: Pan Afr Med J (2022)
Keywords: heart neoplasms, acute coronary syndrome, case report, coronary disease, papillary fibroelastoma
MeSH terms: Acute Coronary Syndrome / complications, Acute Coronary Syndrome / etiology, Cardiac Papillary Fibroelastoma, Coronary Artery Disease / complications, Fibroma / diagnosis, Fibroma / pathology, Fibroma / surgery, Heart Neoplasms / diagnosis, Heart Neoplasms / pathology, Heart Neoplasms / surgery, Case Reports, Aortic Valve / pathology, Aortic Valve / surgery, Humans, Male, Middle Aged

Cardiac papillary fibroelastoma is a rare, benign tumour, arising from the valvular endocardium, which could lead to life-threatening complications as myocardial ischemia. We report a case of a 54-year-old male patient who presented in the emergency room with an acute coronary syndrome with transient ST segment elevation. After ruling out coronary artery disease by coronarography, we established the diagnosis of papillary fibroelastoma by performing echocardiogram completed by computed tomography angiography. The reversible acute coronary syndrome has been caused by the prolapse of pedunculated coronary cusp tumour into the main left coronary ostium. The patient was scheduled for emergent surgery. The surgical management included a complete resection of the tumour sparing the aortic valve. The patient recovered well. A papillary fibroelastoma of the aortic valve can be revealed by an acute coronary syndrome with transient ST segment elevation. More investigations must be done to eliminate such diagnosis in the case of a normal coronarography.