OpenMed/multicare-articles huggingface dataset:
Sanjad-sakati syndrome dental management: a case report
Authors: Hisham Y El Batawi
Journal: Case Rep Dent (2013)

Sanjad-Sakati syndrome (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. A child with SSS was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and quality of dental tissues. Full restorative rehabilitation was done under general anesthesia. Two years later, the child presented with recurrent caries affecting uncrowned teeth. High carries recurrence rate was blamed for the nutritional habits endorsed by the parents. Only steel crowned teeth survived such hostile oral environment which suggested shifting of treatment strategy towards full coverage restorations instead of classical cavity preparations and fillings during a second attempt for dental treatment under general anesthesia and for the dental treatment of two cousins of the same child. The author recommends effective health education for parents including the nature of their child's genetic disorder, nutritional needs, and dental health education to improve the life style of such children.
Case Report: Transarterial Chemoembolization in Combination With Tislelizumab Downstages Unresectable Hepatocellular Carcinoma Followed by Radical Salvage Resection
Authors: Jiashuo Chao, Qi Zhu, Desheng Chen, Xiao An, Aiqun Liu, Fei Zhou, Lin Yuan, Zhaowen Wang, Hongcheng Sun
Journal: Front Oncol (2021)
Keywords: downstaging therapy, hepatocellular carcinoma, immune checkpoint inhibitor, salvage resection, tislelizumab, transarterial chemoembolization
MeSH terms: Case Reports

Introduction:
Transarterial chemoembolization (TACE) is inefficient at converting unresectable hepatocellular carcinoma (uHCC) to resectable. Treatment with immune checkpoint inhibitors (ICIs) is an emerging strategy for uHCC. Combined therapy of TACE with ICIs is considered to improve the therapeutic effect.
Case presentation:
A 45-year-old man was diagnosed with a bulky HCC under cirrhotic background without distant metastasis. Curative resection was infeasible, and TACE plus tislelizumab (an ICI targeting PD-1) was applied. The treatment course, starting from TACE and followed by tislelizumab one week later, was repeated every four weeks. After three courses, the tumor showed striking shrink in volume with complete radiological response, which permitted salvage resection. Notably, pathological examination found complete necrosis of the tumor with massive infiltration of lymphocytes in the tumor-nontumor interface and extensive granulomatous inflammation in the surrounding nontumor liver, indicating activated immune response synergistically caused by TACE with tislelizumab. The patient is now living well without tumor recurrence for 6 months after surgery.
Conclusion:
TACE in combination with tislelizumab may represent a potent strategy for uHCC. Data from randomized clinical trials are needed to assess its safety and effect in the setting of preoperative downstaging therapy.
Transplantation of a three-lobed donor left lung: A case report
Authors: Samuel Jacob, Ian A Makey, Magdy M El-Sayed Ahmed, Jorge M Mallea, David B Erasmus, Erol V Belli
Journal: SAGE Open Med Case Rep (2019)
Keywords: lung, organ donor management, transplantation
MeSH terms: Case Reports

A true left middle lobe (lingular lobe) is very rare, but accessory fissures can be unexpectedly found at transplant. Pre-transplant knowledge of accessory lobes and accessory fissures aids in preparation, transplantation, postoperative assessment, and long-term care planning; however, fissures and accessory lobes can be overlooked by radiologists during routine evaluation of images. Here, we describe the first left lung with three anatomical lobes that was successfully transplanted into a 63-year-old patient with idiopathic pulmonary fibrosis. This anatomical variation did not change our surgical plan or technique, but surgeons should be aware of this possibility, especially when planning postoperative care.
Case Report: Massive epistaxis from juvenile angiofibroma in an adolescent with severe haemophilia A
Authors: Jose Florencio F Lapeña, Olivia Agnes D Mejia
Journal: F1000Res (2019)
Keywords: computed tomography angiography, epistaxis, haemophilia a, juvenile angiofibroma, male adolescents, nasal endoscopy, nasal surgical procedures
MeSH terms: Angiofibroma / complications, Angiofibroma / diagnosis, Epistaxis / etiology, Hemophilia A, Nasopharyngeal Neoplasms / complications, Nasopharyngeal Neoplasms / diagnosis, Vascular Neoplasms, Case Reports, Adolescent, Child, Humans, Male, Neoplasm Recurrence, Local

Epistaxis may be profuse in individuals with normal bleeding parameters, but in an individual with haemophilia, it may be life-threatening. It is even more dangerous when epistaxis is caused by an undetected concomitant juvenile angiofibroma, and only one such case has been reported in the English literature. We report another case, of an 18-year-old Filipino adolescent with severe haemophilia A who was referred for repeated massive epistaxis. The epistaxis had been attributed to his haemophilia and managed with nasal packing, multiple blood transfusions and Factor VIII administration. After two years of unsuccessful management, nasal endoscopy was performed for the first time, revealing an intranasal mass. Imaging showed a right intranasal vascular tumour supplied mainly by the right sphenopalatine artery. He subsequently underwent preoperative embolization and endoscopic excision of the tumour with Factor VIII transfused pre-, intra-, and post-operatively, and recombinant Factor VII added post-operatively. Final histopathology was consistent with juvenile angiofibroma. There has been no nasal obstruction or recurrence of epistaxis seven years since the surgery. Clinicians should be more meticulous in assessing epistaxis in any patient with a bleeding disorder and investigate more subtle symptoms such as nasal obstruction. Verification of the source by direct visualization and ancillary diagnostic techniques (such as imaging) when indicated should be the standard of care for all patients presenting with epistaxis, whether or not a concomitant bleeding disorder exists. A high index of suspicion for juvenile angiofibroma should be maintained in adolescent males with epistaxis and nasal obstruction.
A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant
Authors: Michael Gibbs, Alysa Poulin, Yanwei Xi, Bita Hashemi
Journal: Case Rep Genet (2023)
MeSH terms: Case Reports

Cyclin-dependent kinase 13 (CDK13) is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. CDK13-related disorder is a newly described genetic condition with characteristic clinical features including mild to severe intellectual disability, developmental delay, neonatal hypotonia, a variety of facial dysmorphism, behavioral problems, congenital heart defects, and structural brain abnormalities. We report a case of prenatal diagnosis of CDK13-related disorder. Detection of cystic hygroma with thickened nuchal fold led to prenatal genetic investigation, which identified a novel de novo likely pathogenic variant in the CDK13 gene (c.900C > G, p.Tyr300∗). Pregnancy was terminated and autopsy was performed. To our best knowledge, this is the first reported case of prenatal presentation of this condition with a detailed phenotypic description of the affected fetus.
A 14-year-old in heart failure with multiple cardiomyopathy variants illustrates a role for signal-to-noise analysis in gene test re-interpretation
Authors: Patrick S Connell, Aamir Jeewa, Debra L Kearney, Hari Tunuguntla, Susan W Denfield, Hugh D Allen, Andrew P Landstrom
Journal: Clin Case Rep (2018)
Keywords: cardiomyopathy, genetic testing, variant of unknown significance, whole exome sequencing
MeSH terms: Case Reports

Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus.
Postpartum hemoperitoneum due to rupture of a blood vessel on a uterine pseudo tumor: a case report
Authors: Gregory Halle Ekane, Pierre Marie Tebeu, Thomas Egbe Obinchemti, Theophile Nana Njamen, Charlotte Tchente Nguefack, Jacques Tsingaing Kamgaing, Eugene Belley Priso
Journal: Pan Afr Med J (2013)
Keywords: postpartum, hemoperitoneum, myomas, pregnancy, pseudotumor
MeSH terms: Hemoperitoneum / etiology, Postpartum Hemorrhage / etiology, Uterine Diseases / complications, Case Reports, Adult, Female, Hemoperitoneum / diagnosis, Humans, Postpartum Hemorrhage / diagnosis, Postpartum Period, Pregnancy, Rupture, Spontaneous / complications, Uterine Diseases / diagnosis, Uterine Neoplasms, Uterus / blood supply, Uterus / pathology

We are reporting a case of hemoperitoneum followed by early post partum collapse due to bleeding from a ruptured vessel on the surface of an undiagnosed uterine pseudo tumor. There are literature reports of spontaneous hemoperitoneum from bleeding of superficial vessels over lying myomas during pregnancy but a case of rupture of a blood vessel on a uterine pseudo tumor leading to isolated hemoperitoneum in the immediate postpartum period is a rare event. We are presenting the literature review and some aspects of the management of this case. The importance of having a high index of suspicion in cases of hemoperitoeum occurring immediately after delivery especially in a low income setting where radiologic imaging techniques like magnetic resonance imaging (MRI); which is the most sensitive diagnostic tool in cases of ruptured vessels are rare is highlighted.
Selective Metaphor Impairments After Left, Not Right, Hemisphere Injury
Authors: Eileen R Cardillo, Marguerite McQuire, Anjan Chatterjee
Journal: Front Psychol (2018)
Keywords: aphasia, case study, figurative language, focal lesion patients, metaphor, sentence comprehension

The relative contributions of the left and right hemispheres to the processing of metaphoric language remains unresolved. Neuropsychological studies of brain-injured patients have motivated the hypothesis that the right hemisphere plays a critical role in understanding metaphors. However, the data are inconsistent and the hypothesis is not well-supported by neuroimaging research. To address this ambiguity about the right hemisphere's role, we administered a metaphor sentence comprehension task to 20 left-hemisphere injured patients, 20 right hemisphere injured patients, and 20 healthy controls. Stimuli consisted of metaphors of three different types: predicate metaphors based on action verbs, nominal metaphors based on event nouns, and nominal metaphors based on entity nouns. For each metaphor (n = 60), a closely matched literal sentence with the same source term was also generated. Each sentence was followed by four adjective-noun answer choices (target + three foil types) and participants were instructed to select the phrase that best matched the meaning of the sentence. As a group, both left and right hemisphere patients performed worse on metaphoric than literal sentences, and the degree of this difficulty varied for the different types of metaphor - but there was no difference between the two patient groups. Tests for literal-metaphor dissociations at the level of single cases revealed two types of impairments: general comprehension deficits affecting metaphors and literal sentences equally, and selective metaphor impairments that were specific to different types of metaphor. All cases with selective metaphor deficits had injury to the left hemisphere, and no known comprehension difficulties with literal language. Our results argue against the hypothesis of a specific or necessary contribution of the right hemisphere for understanding metaphoric language. Further, they reveal deficits in metaphoric language comprehension not captured by traditional language assessments, suggesting overlooked communication difficulties in left hemisphere patients.
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone
Authors: Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi
Journal: Front Endocrinol (Lausanne) (2017)
Keywords: acp5, growth hormone deficiency, growth hormone therapy, skeletal dysplasia, spondyloenchondrodysplasia
MeSH terms: Case Reports

Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). Hypomorphic ACP5 mutations impair endochondral bone growth and create an interferon (INF) signature, which lead to distinctive spondylar and metaphyseal dysplasias, and extraskeletal morbidity, such as neurological involvement and immune dysregulation, respectively. We report an affected boy with novel ACP5 mutations, a splice-site mutation (736-2 A>C) and a nonsense mutation (R176X). He presented with postnatal short stature, which led to a diagnosis of partial growth hormone (GH) deficiency at 3 years of age. GH therapy was beneficial in accelerating his growth velocity. At 6 years of age, however, metaphyseal abnormalities of the knee attracted medical attention, and subsequent assessment ascertained the typical skeletal phenotype of SPENCD, brain calcifications, and an INF signature. This anecdotal experience indicates the potential efficacy of GH for growth failure in SPENCD.
Dramatic Efficacy of Interferon and Vemurafenib on Psychiatric Symptoms Revealing BRAFV600E -Mutated Erdheim-Chester Disease: A Case Report
Authors: Jérôme Razanamahery, Maroua Abdallahoui, Guillaume Chabridon, Agnès Fromont, Georges Tarris, Ahmed Idbaih, Pierre Olivier Comby, Francois Godard, Julien Haroche, Sylvain Audia, Bernard Bonnotte
Journal: Front Immunol (2022)
Keywords: braf inhibitor, erdheim-chester disease, cerebellar syndrome, histiocytosis, interferon, psychosis
MeSH terms: Delirium, Erdheim-Chester Disease / diagnosis, Erdheim-Chester Disease / drug therapy, Erdheim-Chester Disease / genetics, Case Reports, Aged, 80 and over, Antiviral Agents / therapeutic use, Female, Humans, Interferons / therapeutic use, Protein Kinase Inhibitors / therapeutic use, Proto-Oncogene Proteins B-raf / genetics, Vemurafenib / therapeutic use, Antiviral Agents, Protein Kinase Inhibitors, Vemurafenib, Interferons, BRAF protein, human, Proto-Oncogene Proteins B-raf

Erdheim-Chester disease (ECD) is a rare condition with underestimated neurological involvement. Mild psychiatric symptoms such as mood swings have been rarely described in the clinical spectrum of neuro-ECD. We here describe the first patient with psychiatric manifestations of delirium revealing ECD with neurological involvement with favorable evolution under interferon followed by BRAF inhibitor monotherapy. An 81-year-old woman was referred to the hospital because of delirium and severe cognitive impairment associated with a cerebellar syndrome. Brain magnetic resonance imaging showed "FLAIR-changes" lesions in the pons and upper cerebellum peduncles. Blood and cerebrospinal fluid (CSF) analyses showed normal results except for an elevated neopterin level in the CSF. Whole-body CT scan (18FDG-PET) showed peri-nephric fat infiltration and aorta adventitia sheathing with radiotracer uptake in the pons, vessels, peri-nephric fat, and bone lesions, which was characteristic of ECD. The diagnosis was confirmed on perirenal tissue biopsy, which also showed a BRAFV600E mutation. Treatment with interferon resulted in the resolution of delirium, and treatment with BRAF inhibitor subsequently resulted in a partial remission of all active sites. This case highlights that delirium can be the first manifestation of neurodegenerative ECD. ECD should be screened in unexplained psychiatric features as interferon and targeted therapy appear to be effective in this situation.
Spontaneous Gastric Perforation in a Case of Collagenous Gastritis
Authors: Marly H Appelman, Tim G J de Meij, E Andra Neefjes-Borst, C M F Kneepkens
Journal: APSP J Case Rep (2016)
Keywords: acute abdomen, collagenous gastritis, gastric perforation
MeSH terms: Case Reports

Collagenous gastritis is an extremely rare disease, both in children and adults. Symptoms vary depending on the extent of collagenous changes in the bowel. In most of the children, iron deficiency anemia and abdominal pain are the presenting symptoms. We present a 15-year-old boy with acute abdomen due to gastric perforation the cause of which was collagenous gastritis.
Zero-Contrast Left Main Bifurcation PCI in an Elderly Patient with Chronic Kidney Disease
Authors: Prathap Kumar, Stalin Roy, Blessvin Jino, Manu Rajendran, Sandheep G Villoth
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Patients with chronic kidney disease develop acute kidney injury (AKI) following percutaneous coronary intervention (PCI). We report a case highlighting the benefits of zero-contrast left main bifurcation PCI in an 82-year-old male with non-ST elevation myocardial infarction and contrast-induced AKI following coronary angiography. The patient was on routine follow-up, and he was stable and asymptomatic at nine months follow-up.
Extra-Adrenal Retroperitoneal Myelolipoma Resected by Laparoscopy in an Asymptomatic Patient
Authors: Gabriel Ambrogi, Maria Madureira Murta, André Silva Guimarães Moeda, Ramon Brandão Barbosa, Israel Rodrigues da Silva, Ana Beatriz Tabosa Negrão Xavier, Matheus Vieira Dos Santos, Lucas Martinucci de Oliveira, Bernardo Luiz Campanário Precht, Renato Panhoca, Luis Augusto Seabra Rios
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Myelolipomas are rare benign neoplasms that commonly develop in the adrenal glands. Less frequently, they can affect other organs such as the liver, stomach, liver, lung, and retroperitoneum. It affects more women, with an average age of around 61 years. Histologically, they are composed of mature adipose tissue and hematopoietic cells. With the evolution of immunohistochemistry, there are characteristics that can differentiate from malignant tumors such as liposarcomas. Its treatment remains based on surgical resection and long-term outpatient follow-up.
Successful Management of Pregnancy and Hepatic Toxicity in a CML Female Patient Treated with Nilotinib: a Case Report and a Review
Authors: Domenico Santorsola, Elisabetta Abruzzese
Journal: Mediterr J Hematol Infect Dis (2015)
MeSH terms: Case Reports

We report a case of a young patient with chronic viral hepatitis HBV infection, diagnosed with CML in March 2006 and treated with imatinib 400mg/die as first line therapy with concomitant Lamivudine. Patient obtained a complete hematologic response (CHR) in 2 months, complete cytogenetic response (CCyR) in six months and major molecular response (MMR) at 24 months. After three years of treatment, she became imatinib intolerant and resistant. In November 2009 patient started nilotinib 400mg/BID. Patient tolerated well the new molecule never experiencing hepatic impairment. After switching to nilotinib, she reached in 12 months transcript reduction more than 3 log (MMR). Even if patient had been informed of the need of continuous therapy and to use effective methods of contraception during tyrosine kinase inhibitor (TKI) treatment, in 2012 she decided to plan a pregnancy. In August 2012 a MR4 was documented, and treatment discontinued before starting pregnancy. She was placed on interferon and observed throughout her pregnancy. The disease remained stable achieving an undetectable transcript level; she delivered a healthy boy in September 2013. Treatment with nilotinib was re-started three months after delivery, and she is still in molecular remission (MR5). A complete discussion of the case and the available literature is presented.
A Case of Pregnancy Complicated with ATIII Deficiency in a Patient Who Developed Severe Venous Thromboembolism in Her Fourth Pregnancy and Had a Favourable Outcome in Her Subsequent Pregnancy with Careful Management of Anticoagulation Therapy including Edoxaban
Authors: Mie Sakai, Jumpei Ogura, Koji Yamanoi, Takahiro Hirayama, Tsutomu Ohara, Haruka Suzuki, Yoshihide Inayama, Koji Yasumoto, Koh Suginami
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Congenital ATIII deficiency is one of the congenital thrombophilia diseases that can cause severe venous thromboembolism (VTE) in pregnant patients. A 30-year-old female, 4 gravida and 2 para, came to the emergency department with a complaint of oedema and pain in the left lower leg at 11 weeks of gestation. An inferior vena cava thrombus and pulmonary embolism were found. Because VTE was very severe, artificial abortion was performed, and VTE disappeared rapidly. She maintained oral administration of edoxaban (NOAC) and got pregnant naturally fifty-five weeks later after the abortion. Anticoagulation therapy was changed from NOAC to ATIII formulation and unfractionated heparin at 5 weeks of gestation. The course of pregnancy was good, and a healthy female newborn of 2310 g was delivered vaginally at 37 weeks 6 days of gestation. In puerperium, anticoagulation therapy was changed to warfarin. Currently one and one-half years had passed after delivery and no major adverse events or thrombosis has occurred. This case indicates that severe VTE can develop even in multipara pregnancy and that those who take NOAC may be able to continue pregnancy when they get pregnant.
Systemic Chemotherapy for Progression of Brain Metastases in Extensive-Stage Small Cell Lung Cancer
Authors: Nagla Abdel Karim, Ananta Bhatt, Lauren Chiec, Richard Curry
Journal: Case Rep Oncol Med (2015)

Lung cancer is the most common cause of cancer related mortality in men and women. Approximately 15% of lung cancers are small cell type. Chemotherapy and radiation are the mainstay treatments. Currently, the standard chemotherapy regimen includes platinum/etoposide. For extensive small cell lung cancer, irinotecan and cisplatin have also been used. Patients with relapsed small cell lung cancer have a very poor prognosis, and the morbidity increases with brain metastases. Approximately 10%-14% of small cell lung cancer patients exhibit brain metastases at the time of diagnosis, which increases to 50%-80% as the disease progresses. Mean survival with brain metastases is reported to be less than six months, thus calling for improved regimens. Here we present a case series of patients treated with irinotecan for progressive brain metastases in small cell lung cancer, which serves as a reminder of the role of systemic chemotherapy in this setting.