OpenMed/multicare-articles huggingface dataset:
Hallermann-Streiff Syndrome and Lower Limb Lymphedema with Nasal Obstruction
Authors: Ana Carolina Pereira de Godoy, Henrique Jose Pereira de Godoy, Jose Maria Pereira de Godoy
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Background:
Hallermann-Streiff syndrome (HSS) is a rare congenital abnormality involving multiple craniofacial malformations, such as micrognathia, prominent frontal and nasal bones, vision defects, and dental anomalies, which can result in obstructive sleep apnea syndrome. The aim of the present study was to report a case of nasal obstruction in an individual with Hallermann-Streiff syndrome who had never breathed through the nose during treatment for lower limb lymphedema involving cervical lymphatic therapy. Case Report. An 18-year-old female adolescent with a diagnosis of HSS was sent from the genetics service of a teaching school for the treatment of lower limb lymphedema. At around 11 years of age, the patient began to present edema in the left leg, accompanied by broadening of the face and neck. The patient reported having obstructed nostrils and breathing through the mouth her entire life. On the second day of treatment, the patient reported being able to breathe through one of the nostrils, this had never occurred before. Based on this finding, the decision was made to include linear facial lymphatic drainage using the Godoy method, which led to the complete resolution of the nasal obstruction in the first 15 minutes of treatment. Nasal obstruction in children with Hallermann-Streiff syndrome may be caused by lymphedema.
Conclusion:
A specific lymphatic drainage technique, such as cervical lymphatic therapy and facial linear lymphatic therapy, can resolve the obstruction and maintain the nostrils unblocked for months.
Case Report: Tissue Origin Identification for Cancer of Unknown Primary: Gene Expression Profiling Approach
Authors: Xingxiang Pu, Sa Yang, Yan Xu, Bolin Chen, Qianzhi Wang, Qian Gong, Lin Wu
Journal: Front Oncol (2021)
Keywords: cancer of unknown primary, gene expression profiling, immunohistochemistry, real-time pcr, tissue of origin
MeSH terms: Case Reports

The treatment of cancer of unknown primary (CUP) is a huge challenge for clinicians. Gene expression profiling can help identify the tissue origin of tumors by detecting the expression levels of specific genes in tumor tissues. Herein, we report four CUP cases. All of them have been successfully identified with the corresponding primary tumor sites through gene expression profiling analysis. Then all patients received accurate treatment, providing reference to guide therapeutic decisions to treat CUP tumors in the future.
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
Authors: Antonella Gagliano, Erica Pironti, Francesca Cucinotta, Cecilia Galati, Roberta Maggio, Maria Ausilia Alquino, Gabriella Di Rosa
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not systematically research or describe the co-occurrence of psychiatric illnesses or mental disorders with these muscular-skeletal diseases. In this report, we provide a description of an 8-year-old girl, with a positive family history for both skeletal malformations and bipolar disorders (BD). We suggest a possible association between Leri's pleonosteosis features and psychiatric symptoms. Furthermore, our report could be added to the large amount of reports that describe the correlation between genetic regions and disease risk for both psychiatric and rheumatological disorders.
Kocuria kristinae infection associated with acute cholecystitis
Authors: Edmond S K Ma, Chris L P Wong, Kristi T W Lai, Edmond C H Chan, W C Yam, Angus C W Chan
Journal: BMC Infect Dis (2005)
MeSH terms: Cholecystitis / complications, Gram-Positive Bacterial Infections / complications, Gram-Positive Bacterial Infections / microbiology, Micrococcaceae / isolation & purification, Case Reports, Acute Disease, Anti-Bacterial Agents / therapeutic use, Cholecystitis / microbiology, Gram-Positive Bacterial Infections / drug therapy, Humans, Levofloxacin, Male, Middle Aged, Ofloxacin / therapeutic use, Anti-Bacterial Agents, Levofloxacin, Ofloxacin

Background:
Kocuria, previously classified into the genus of Micrococcus, is commonly found on human skin. Two species, K. rosea and K. kristinae, are etiologically associated with catheter-related bacteremia.
Case presentation:
We describe the first case of K. kristinae infection associated with acute cholecystitis. The microorganism was isolated from the bile of a 56-year old Chinese man who underwent laparoscopic cholecystectomy. He developed post-operative fever that resolved readily after levofloxacin treatment.
Conclusion:
Our report of K. kristinae infection associated with acute cholecystitis expands the clinical spectrum of infections caused by this group of bacteria. With increasing number of recent reports describing the association between Kocuria spp. and infectious diseases, the significance of their isolation from clinical specimens cannot be underestimated. A complete picture of infections related to Kocuria spp. will have to await the documentation of more clinical cases.
A Novel Use of Laryngoscope for Difficult Papanicolaou Smear Collection
Authors: Sarah Boudova, Caitlin Thomas, John Wolfe, Jeanne M Schilder
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

The prevalence of cervical cancer has dropped significantly since introduction of the Papanicolaou (Pap) screen. The greatest risk factor for cervical cancer is inadequate screening. Altered pelvic anatomy can limit the ability to collect a Pap smear. In the presented case, a woman with a history of fibroids and bleeding presented for an exam under anesthesia. Traditional approaches for collecting a Pap smear failed. A GlideScope video laryngoscope was used to visualize the cervix, and a Pap smear was collected. The specimen was satisfactory, negative for intraepithelial lesion or malignancy, and HPV negative. A laryngoscope can be repurposed to visualize collection of a challenging Pap smear. Novel approaches for Pap smear collection and cervical cancer screening are needed and have the potential to save lives.
Anesthetic management of a patient with Stiff-Person Syndrome and endometrial cancer for robotic surgery: A case report
Authors: Cindy B Yeoh, Kathleen J Lee, Luis E Tollinche
Journal: Int J Clin Case Rep Rev (2020)
Keywords: anti-gad antibodies, cancer, paraneoplastic antibodies, robotic surgery, stiff-person syndrome

Stiff-person syndrome (SPS) is a rare disorder of the nervous system, characterized by muscle stiffness, rigidity, and painful spasms involving truncal and limb musculature that may severely limit mobility. Our case documents a 53-year-old patient with SPS and endometrial cancer who was positive for anti-GAD and paraneoplastic antibodies, who presented to our institution for robotic surgery. These patients are at high risk for prolonged hypotonia and mechanical ventilation. Our patient underwent general anesthesia without complications despite multiple comorbidities.
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome
Authors: Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Hanka Venselaar, Raheel Qamar, Muhammad Imran Khan, Anneke I den Hollander
Journal: Neurogenetics (2016)
Keywords: axenfeld–rieger syndrome, prdm5, whole exome sequencing
MeSH terms: Anterior Eye Segment / abnormalities, DNA-Binding Proteins / genetics, Eye Abnormalities / genetics, Mutation, Missense, Transcription Factors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, DNA Mutational Analysis / methods, Exome, Eye Diseases, Hereditary, Family, Female, Heterozygote, Humans, Male, Middle Aged, Pedigree, Young Adult, DNA-Binding Proteins, PRDM5 protein, human, Transcription Factors, Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome (ARS) is a disorder affecting the anterior segment of the eye, often leading to secondary glaucoma and several systemic malformations. It is inherited in an autosomal dominant fashion that has been associated with genetic defects in PITX2 and FOXC1. Known genes CYP1b1, PITX2, and FOXC1 were excluded by Sanger sequencing. The purpose of current study is to identify the underlying genetic causes in ARS family by whole exome sequencing (WES). WES was performed for affected proband of family, and variants were prioritized based on in silico analyses. Segregation analysis of candidate variants was performed in family members. A novel heterozygous PRDM5 missense variant (c.877A>G; p.Lys293Glu) was found to segregate with the disease in an autosomal dominant fashion. The novel missense variant was absent from population-matched controls, the Exome Variant Server, and an in-house exome variant database. The Lys293Glu variant is predicted to be pathogenic and affects a lysine residue that is conserved in different species. Variants in the PRDM5 gene were previously identified in anterior segment defects, i.e., autosomal recessive brittle cornea syndrome and keratoconus. The results of this study suggest that genetic variants in PRDM5 can lead to various syndromic and nonsyndromic disorders affecting the anterior segment of the eye.
Idiopathic full thickness macular hole in a 10-year-old girl
Authors: Li-Anne S Lim, Guillermo Fernandez-Sanz, Steven Levasseur, John R Grigg, Alex P Hunyor
Journal: Int J Retina Vitreous (2018)
Keywords: children, macular hole
MeSH terms: Case Reports

Background:
Macular holes in children are generally associated with trauma.
Case presentation:
We report the first case of an idiopathic full thickness macular hole in a 10-year-old girl. 23-gauge transconjunctival pars plana vitrectomy, induction of a posterior vitreous detachment, ILM blue-assisted internal limiting membrane peel, fluid-air exchange and air-26% sulfur hexafluoride (SF6) exchange was performed with subsequent macular hole closure.
Conclusion:
This is the first reported case of an idiopathic full thickness macular hole in a child. Treatment with pars plana vitrectomy with peeling of the ILM resulted in significant anatomic and functional improvement.
A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome
Authors: Juan Shen, Li Jiang, Yifang Gao, Rongqiong Ou, Sifei Yu, Binyan Yang, Changyou Wu, Weiping Tan
Journal: Front Genet (2019)
Keywords: immune responses, omenn syndrome, rag1 gene, scid, mutation
MeSH terms: Case Reports

Omenn syndrome is a rare autosomal recessive disorder characterized by severe, combined immunodeficiency and autoimmune features. In this case study, we found Omenn syndrome in a 3-month-old boy with recurrent infection, erythroderma, axillary lymphadenopathy, and hepatosplenomegaly. The numbers of eosinophile granulocytes and the levels of immunoglobulin E in his blood were distinctly elevated. Circulating B cells were absent, and the numbers of activated T lymphocytes were present in his peripheral blood. The production of T cell cytokines was significantly higher in the patient compared to the control samples except for interferon gamma. Whole exome sequencing revealed that the patient carried compound heterozygous mutations in the RAG1 gene, which included a previously undescribed frameshift mutation (exon 2, 2491_2497del, p. K830fsX4) and a missense mutation (exon 2, 2923 C > T, p.R975W).
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review
Authors: Guixiang Yao, Guangxin Wang, Dawei Wang, Guohai Su
Journal: Medicine (Baltimore) (2019)
MeSH terms: Bone and Bones / abnormalities, Dwarfism / genetics, Limb Deformities, Congenital / genetics, Lordosis / genetics, Mutation, Missense / genetics, Pedigree, Receptor, Fibroblast Growth Factor, Type 3 / genetics, Sequence Analysis / methods, Case Reports, Review, Adult, Asian People / genetics, Child, Female, Gene Frequency, Heterozygote, Humans, Male, Molecular Docking Simulation, Phenotype, FGFR3 protein, human, Receptor, Fibroblast Growth Factor, Type 3, Hypochondroplasia

Rationale:
Hypochondroplasia (HCH) is the mildest form of chondrodysplasia characterized by disproportionate short stature, short extremities, and variable lumbar lordosis. It is caused by mutations in fibroblast growth factor receptor 3 (FGFR3) gene. Up to date, at least thirty mutations of FGFR3 gene have been found to be related to HCH. However, mutational screening of the FGFR3 gene is still far from completeness. Identification of more mutations is particularly important in diagnosis of HCH and will gain more insights into the molecular basis for the pathogenesis of HCH.
Patient concerns:
A large Chinese family consisting of 53 affected individuals with HCH phenotypes was examined.
Diagnoses:
A novel missense mutation, c.1052C>T, in FGFR3 gene was identified in a large Chinese family with HCH. On the basis of this finding and clinical manifestations, the final diagnosis of HCH was made.
Interventions:
Next-generation sequencing (NGS) of DNA samples was performed to detect the mutation in the chondrodysplasia-related genes on the proband and her parents, which was confirmed by Sanger sequencing in the proband and most of other living affected family members.
Outcomes:
A novel missense mutation, c.1052C>T, in the extracellular, ligand-binding domain of FGFR3 was identified in a large Chinese family with HCH. This heterozygous mutation results in substitution of serine for phenylalanine at amino acid 351 (p.S351F) and co-segregates with the phenotype in this family. Molecular docking analysis reveals that this unique FGFR3 mutation results in an enhancement of ligand-binding affinity between FGFR3 and its main ligand, fibroblast growth factor 9.
Lessons:
This novel mutation is the first mutation displaying an increase in ligand-binding affinity, therefore it may serve as a model to investigate ligand-dependent activity of FGF-FGFR complex. Our data also expanded the mutation spectrum of FGFR3 gene and facilitated clinic diagnosis and genetic counseling for this family with HCH.
Clinical Course of Transgender Adolescents with Complicated Postural Orthostatic Tachycardia Syndrome Undergoing Hormonal Therapy in Gender Transition: A Case Series
Authors: Jeffrey R Boris, Zachary B R McClain, Thomas Bernadzikowski
Journal: Transgend Health (2019)
Keywords: lgbt health, dysautonomia, orthostatic intolerance, testosterone therapy

Purpose: Postural orthostatic tachycardia syndrome (POTS), an increasingly recognized dysautonomia, may affect as many as 3,000,000 Americans. Concurrently, prevalence estimates suggest 10% of individuals identify as lesbian, gay, bisexual, transgender, or questioning/queer. The preponderance of female POTS patients implies hormonal differences between natal sexes and their role in POTS. Transgender POTS patients using hormone therapies may offer further insight into the mechanism of POTS. There have been no previously published studies of transgender patients with POTS undergoing gender-affirming hormone therapy. Methods: We reviewed our electronic health record for clinical histories of transgender patients in our POTS Database. Results: Three patients who transitioned from female to male demonstrated clinical improvement of their POTS symptoms with the addition of testosterone therapy. Conclusion: We present our clinical experience of three transgender POTS patients who transitioned from female to male with hormone therapy, all of whom demonstrated clinical improvement with testosterone. This may give further insight into the pathophysiology of POTS. However, the authors do not endorse the use of hormone therapy as primary therapy for the symptoms of POTS.
Liver Transplantation during Pregnancy for Acute Liver Failure due to HBV Infection: A Case Report
Authors: Nina Kimmich, Philipp Dutkowski, Franziska Krähenmann, Beat Müllhaupt, Roland Zimmermann, Nicole Ochsenbein-Kölble
Journal: Case Rep Obstet Gynecol (2013)

Acute hepatic failure during pregnancy is a life-threatening situation for the mother and fetus and might need a super-urgent liver transplantation. Many pregnancies with positive outcomes are reported after a previous liver transplantation before the pregnancy, but only a few of them are mentioned with transplantation during pregnancy. In these few cases, fetal outcome is mostly adverse. Experience with liver failure during pregnancy and its management is still deficient and needs to be approved. For sure, patients need to be treated in highly qualified centers in a multidisciplinary approach. We present a case of successful super-urgent liver transplantation during the second trimester of pregnancy after acute hepatic failure due to an acute hepatitis B infection with positive maternal and fetal outcome. Liver transplantation during pregnancy due to an acute liver failure can be a life-saving procedure for the mother and fetus. An early initiated maternal therapy with antiviral drugs and immunoglobulins seems to be safe and able to prevent fetal infection and immunosuppressive therapy after transplantation seems to be well tolerated. Nevertheless, fetal outcome differs widely and long-term outcome is deficiently known.
Efficacy and Toxicity of Immune -Checkpoint Inhibitors in Patients With Preexisting Autoimmune Disorders
Authors: Michelle Coureau, Anne-Pascale Meert, Thierry Berghmans, Bogdan Grigoriu
Journal: Front Med (Lausanne) (2020)
Keywords: autoimmunity, cancer, flare-up, immunotherapy, side-effect
MeSH terms: Review

Immunotherapy is an important armamentarium for cancer treatment nowadays. Apart from their significant effectiveness in controlling disease they also generate potential severe immune related adverse effects. Preexistence of immune related conditions may eventually predispose to the development of more severe complication and extreme caution have been taken in treating these patients. We performed a literature review searching for case reports and case series in order to offer evidence-based data for clinical management of these patients. Preexisting serological-only immune abnormalities or presence of a predisposing genetic background does not seem to confer significant risk but existing data is scarce. Most patients with preexistent autoimmune diseases can probably treated with checkpoint inhibitors as they seem to have at least the same response rate as the general cancer population. Under treatment, a significant part of them (at least 30%) can experience a flare of their baseline disease which can sometime be severe. Life-threatening cases seems rare and disease flare can be generally managed with steroids. The volume of available data is more important for rheumatologic diseases than for inflammatory bowel diseases were more caution should be observed. However, it has to be kept in mind that new immune related adverse effects (IrAE) are seen with a similar frequency as the flare of the baseline disease. Both flare-up's and newly developed IrAE are generally manageable with a careful clinical follow-up and prompt therapy.
Burns resulting from spontaneous combustion of electronic cigarettes: a case series
Authors: Clifford Sheckter, Arhana Chattopadhyay, John Paro, Yvonne Karanas
Journal: Burns Trauma (2016)
Keywords: burn, e-cig, e-cigarette, electronic cigarettes
MeSH terms: Case Reports

Background:
Electronic cigarette (e-cigarette) sales have grown rapidly in recent years, coinciding with a public perception that they are a safer alternative to traditional cigarettes. However, there have been numerous media reports of fires associated with e-cigarette spontaneous combustion.
Case presentation:
Three severe burns caused by spontaneous combustion of e-cigarettes within a 6-month period were treated at the Santa Clara Valley Medical Center Burn Unit. Patients sustained partial and full-thickness burns. Two required hospitalization and surgical treatment.
Conclusions:
E-cigarettes are dangerous devices and have the potential to cause significant burns. Consumers and the general public should be made aware of these life-threatening devices.
High rate of cardiac sarcoidosis presenting with cutaneous plaque type sarcoidosis in 18F-fluorodeoxyglucose positron emission tomography-computed tomography: a case series
Authors: Satoshi Nakamura, Yoshio Hashimoto, Kaoru Nishi, Keiko Takeda, Toshihiro Mizumoto, Toshio Demitsu, Hajime Iizuka
Journal: J Med Case Rep (2014)

Introduction:
Myocardial sarcoidosis is known as a significant complication of sarcoidosis, but Holter electrocardiographic monitoring or echocardiograms might not be sensitive enough to detect cardiac involvement. While gallium scintigraphy has been recommended, 18F-fluorodeoxyglucose positron emission tomography-computed tomography might be more sensitive to detect sarcoidosis.
Case presentations:
This report comprises the cases of 12 Japanese patients. Two were male, and ten were female. Their age range was between 32 and 93 years. The average age of the patients was 63. We found internal involvement of sarcoidosis in eight (89%) of nine patients by positron emission tomography-computed tomography and in two (67%) of three patients by gallium scintigraphy. Myocardial sarcoidosis was detected in four (33%) of twelve patients, and specifically in three (75%) of four facial multiple plaque type sarcoidosis patients.
Conclusion:
The myocardial lesions detected by positron emission tomography-computed tomography could not be detected with conventional electrocardiogram or echogram. Positron emission tomography-computed tomography can detect sarcoid lesions of the whole body and is useful for the follow up of patients. We recommend positron emission tomography-computed tomography for those patients having cutaneous sarcoidosis, especially facial multiple plaque type sarcoidosis.
Poorly Managed Stressors Contributing to an Affective Disorder in a High-Performance Athlete: A Case Report
Authors: Kenneth Oforeh, Terrance Tumenta, Danish Qureshi, Haroon Saeed, Stanley Nkemjika
Journal: Cureus (2023)
Keywords: athletes, injuries, psychiatry, psychology, sports, sports psychiatry, stress
MeSH terms: Case Reports

Recently, there has been an increase in awareness about mental illness, especially among professional athletes. This has brought to focus the important roles that sports psychiatrists and other allied health professionals play in professional sports. It has also exposed the limitations of sports psychiatry, especially the shortage of sports psychiatrists. Professional athletes are subjected to multiple stressors during their careers, resulting in significant mental health outcomes. If not adequately addressed, stress can cause performance slumps and poorer outcomes, which in turn exacerbates stress in a vicious cycle. We present the case of a former male athlete with multiple physical, somatic, and psychosocial stressors that predisposed him to develop mental illness. This case highlights the potential consequences of a lack of early recognition and management of physical and psychosocial stressors in athletes, which can contribute to psychological illness and potentially lead to adverse medical outcomes such as repeat hospitalization and homelessness.