OpenMed/multicare-articles huggingface dataset:
Congenital Pulmonary Airway Malformation in an Adult Male: A Case Report with Literature Review
Authors: Dipti Baral, Bindu Adhikari, Daniel Zaccarini, Raj Man Dongol, Birendra Sah
Journal: Case Rep Pulmonol (2015)

Congenital pulmonary airway malformation (CPAM) is a rare cystic lung lesion formed as a result of anomalous development of airways in fetal life. Majority of the cases are recognized in neonates and infants with respiratory distress with very few presenting later in adult life. A 24-year-old male with history of three separate episodes of pneumonia in the last 6 months presented with left sided pleuritic chest pain for 4 days. He was tachycardic and tachypneic at presentation. White blood count was 14 × 10(9)/L. Chest X-ray showed left lower lobe opacity. CT angiogram of thorax showed a well-defined area of low attenuation in the left lower lobe with dedicated pulmonary arterial and venous drainage and resolving infection, suggesting CPAM. He underwent left lower lobe lobectomy. Histopathology confirmed type 2 CPAM. CPAM is a rare congenital anatomic abnormality that can present with recurrent infections in adults. As a number of cases remain asymptomatic and symptomatic cases are often missed, prevalence of CPAM might be higher than currently reported.
Neglected Pediatric Osteochondral Fracture Dislocation of the Patella
Authors: Ta-Li Hsu, Shang-Ming Lin, Chih-Hung Chang, Tsung-Yu Lan
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Pediatric osteochondral fracture dislocation of the patella is sometimes difficult to diagnose on the basis of physical examination or plain film radiography. Magnetic resonance imaging plays an important role in its early diagnosis, and early treatment can prevent damage to the articular cartilage as well as decrease the dislocation rate. Currently, many treatment choices have been reported with good results, but there is no consensus on which treatment option may lead to the best outcome. Herein, we describe the case of a 14-year-old girl with neglected osteochondral fracture dislocation of the patella. The outcome was optimal on the basis of a 2-year postoperative follow-up; thus, we believe that fixation with headless screws is a simple and effective method if the fracture fragment is large enough.
Incidental Finding of Giant Coronary Artery Aneurysms Successfully Treated with Medical Therapy
Authors: Rony Shammas, Prasanna Sengodan, Assad Movahed
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

We report a case of a 30-year-old male who presented with signs and symptoms of respiratory infection with left lower lobe consolidation and cardiomegaly on a chest radiography. The presence of cardiomegaly lead to further cardiac evaluation revealing giant coronary aneurysms. The patient was treated conservatively with Coumadin and aspirin and has done well at four years of follow-up.
Case Report and Literature Review: Diagnosis, Tailored Genetic Counseling and Cancer Prevention for a Locally Advanced dMMR/MSI-H/TMB-H Lung Cancer Patient With Concurrent Lynch Syndrome Mediated by a Rare PMS2 Splicing Variant (c.1144+1G>A)
Authors: Quanli Han, Si Liu, Zhi Cui, Qi Wang, Tonghui Ma, Liwen Jiang, Xiaomo Li, Guanghai Dai
Journal: Front Genet (2022)
Keywords: lynch syndrome, pms2, incomplete penetrance, lung cancer, splicing variant
MeSH terms: Case Reports

Lynch syndrome (LS) is a cancer-predisposing genetic disease mediated by pathogenic mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. Accumulating evidence demonstrates that there is significant biological heterogeneity across MMR genes. Compared to MLH1 and MSH2, PMS2 variant carriers have a much lower risk for LS-related cancers. Tumors in MLH1 and MSH2 variant carriers often display MMR deficiency (dMMR) and/or high microsatellite instability (MSI-H), two predictive biomarkers for immunotherapy efficacy. However, tumors in PMS2 variant carriers are largely microsatellite stable (MSS) instead of MSI. Therefore, the optimal management of cancer patients with LS requires the integration of disease stage, MMR gene penetrance, dMMR/MSI status, and tumor mutational burden (TMB). In this work, we presented a locally advanced lung cancer patient with dMMR/MSI-H/TMB-H tumor and selective loss of PMS2 by immunohistochemistry. Germline testing revealed a rare PMS2 splicing variant (c.1144+1G>A) in the proband and his healthy daughter. The diagnosis of LS was made based on genetic analysis of this variant and literature review. Given the incomplete penetrance of PMS2, the proband and the carrier received tailored genetic counseling. To reduce cancer risk, the proband received four cycles of nivolumab plus chemotherapy and achieved a disease-free survival of sixteen months.
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections
Authors: Amandine Crequer, Capucine Picard, Etienne Patin, Aurelia D'Amico, Avinash Abhyankar, Martine Munzer, Marianne Debré, Shen-Ying Zhang, Geneviève de Saint-Basile, Alain Fischer, Laurent Abel, Gérard Orth, Jean-Laurent Casanova, Emmanuelle Jouanguy
Journal: PLoS One (2012)
MeSH terms: Genetic Predisposition to Disease, Hepatocyte Growth Factor / deficiency, Hepatocyte Growth Factor / genetics, Inheritance Patterns / genetics, Papillomaviridae / physiology, Proto-Oncogene Proteins / deficiency, Proto-Oncogene Proteins / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Adolescent, Amino Acid Sequence, Antigens, Viral / immunology, Base Sequence, Cell Proliferation / drug effects, Child, Codon, Nonsense / genetics, Epidermodysplasia Verruciformis / genetics, Epidermodysplasia Verruciformis / immunology, Epidermodysplasia Verruciformis / microbiology, Epidermodysplasia Verruciformis / virology, Exome / genetics, Hepatocyte Growth Factor / chemistry, Homozygote, Humans, Immunophenotyping, Infant, Male, Mitogens / pharmacology, Molecular Sequence Data, Papillomaviridae / drug effects, Proto-Oncogene Proteins / chemistry, T-Lymphocytes / drug effects, T-Lymphocytes / pathology, Young Adult, Antigens, Viral, Codon, Nonsense, Mitogens, Proto-Oncogene Proteins, macrophage stimulating protein, Hepatocyte Growth Factor

Epidermodysplasia verruciformis (EV) is characterized by persistent cutaneous lesions caused by a specific group of related human papillomavirus genotypes (EV-HPVs) in otherwise healthy individuals. Autosomal recessive (AR) EVER1 and EVER2 deficiencies account for two thirds of known cases of EV. AR RHOH deficiency has recently been described in two siblings with EV-HPV infections as well as other infectious and tumoral manifestations. We report here the whole-exome based discovery of AR MST1 deficiency in a 19-year-old patient with a T-cell deficiency associated with EV-HPV, bacterial and fungal infections. MST1 deficiency has recently been described in seven patients from three unrelated kindreds with profound T-cell deficiency and various viral and bacterial infections. The patient was also homozygous for a rare ERCC3 variation. Our findings broaden the clinical range of infections seen in MST1 deficiency and provide a new genetic etiology of susceptibility to EV-HPV infections. Together with the recent discovery of RHOH deficiency, they suggest that T cells are involved in the control of EV-HPVs, at least in some individuals.
Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle
Authors: Marisa Cañadas-Garre, Kerry Anderson, Ruaidhri Cappa, Ryan Skelly, Laura Jane Smyth, Amy Jayne McKnight, Alexander Peter Maxwell
Journal: Front Genet (2019)
Keywords: chronic kidney disease, copy number variants, mitochondria, single nucleotide polymorphisms, telomeres, whole exome sequencing
MeSH terms: Review

Chronic kidney disease (CKD) is a major global health problem with an increasing prevalence partly driven by aging population structure. Both genomic and environmental factors contribute to this complex heterogeneous disease. CKD heritability is estimated to be high (30-75%). Genome-wide association studies (GWAS) and GWAS meta-analyses have identified several genetic loci associated with CKD, including variants in UMOD, SHROOM3, solute carriers, and E3 ubiquitin ligases. However, these genetic markers do not account for all the susceptibility to CKD, and the causal pathways remain incompletely understood; other factors must be contributing to the missing heritability. Less investigated biological factors such as telomere length; mitochondrial proteins, encoded by nuclear genes or specific mitochondrial DNA (mtDNA) encoded genes; structural variants, such as copy number variants (CNVs), insertions, deletions, inversions and translocations are poorly covered and may explain some of the missing heritability. The sex chromosomes, often excluded from GWAS studies, may also help explain gender imbalances in CKD. In this review, we outline recent findings on molecular biomarkers for CKD (telomeres, CNVs, mtDNA variants, sex chromosomes) that typically have received less attention than gene polymorphisms. Shorter telomere length has been associated with renal dysfunction and CKD progression, however, most publications report small numbers of subjects with conflicting findings. CNVs have been linked to congenital anomalies of the kidney and urinary tract, posterior urethral valves, nephronophthisis and immunoglobulin A nephropathy. Information on mtDNA biomarkers for CKD comes primarily from case reports, therefore the data are scarce and diverse. The most consistent finding is the A3243G mutation in the MT-TL1 gene, mainly associated with focal segmental glomerulosclerosis. Only one GWAS has found associations between X-chromosome and renal function (rs12845465 and rs5987107). No loci in the Y-chromosome have reached genome-wide significance. In conclusion, despite the efforts to find the genetic basis of CKD, it remains challenging to explain all of the heritability with currently available methods and datasets. Although additional biomarkers have been investigated in less common suspects such as telomeres, CNVs, mtDNA and sex chromosomes, hidden heritability in CKD remains elusive, and more comprehensive approaches, particularly through the integration of multiple -"omics" data, are needed.
Parvovirus B19 Infection due to over Immunosuppression in Kidney Transplant Recipients: Case Reports and Literature Review
Authors: Abdulrahman Altheaby, Malak Alotaibi, Nuha Alajlan, Ala Alshareef, Mohammed Alruwaymi, Ghaleb Aboalsamh, Mohammed F Shaheen, Mohammed Alzunitan, Ziad Arabi
Journal: Case Rep Transplant (2021)
MeSH terms: Case Reports

Parvovirus B19 (PB19) is a single-stranded DNA virus that belongs to the Erythrovirus genus within the Parvoviridae family. Clinical presentations associated with PB19 infection vary greatly, depending on the infected individual's age and hematologic and immunologic status. The limited data available regarding consensus on screening algorithms and indications in donors and recipients prior to kidney transplantation makes diagnosis and management challenging. We presented 3 cases of pure red cell aplasia due to parvovirus B19 after kidney transplant. These patients were diagnosed with severe normocytic, normochromic anemia (hemoglobin below 60 g/L) in the 1st 6 months posttransplant. A complete anemia work-up revealed low reticulocyte count and was otherwise inconclusive. All patients were diagnosed with pure red cell aplasia due to parvovirus B19. Two patients improved after receiving intravenous immunoglobulin 2 gm/kg given over 4 doses. Unfortunately, they relapse after few weeks and required additional doses of intravenous immunoglobulin in conjugation with reduction of their immunosuppressive medication. The third patient improved after holding mycophenolate mofetil (MMF) and did not require intravenous immunoglobulin. Whereas PB19 infection is typically self-limiting and associated with positive IgM serology in immunocompetent hosts, these cases highlight the importance of considering PB19 infection in the differential diagnosis of persistent anemia in immunocompromised patients and the challenges in confirming the diagnosis. Intravenous immunoglobulin (IVIG) can be an effective treatment in immunocompromised patients with primary or relapsed PB19 infection in conjunction with minimizing immunosuppressive medication. Further research and consideration are required to determine appropriate and targeted screening in donors and recipients in the peritransplantation period.
Case Report: Unusual High-Grade Diffuse Leptomeningeal Glioneuronal Tumor Mimicking Tuberculous Meningitis in a Child From an Endemic Region
Authors: Yong Guang Teh, Nornazirah Azizan, Nur Atifah Mohd Naim, Chiak Yot Ng, Ke Juin Wong, Faizah Mohd Zaki
Journal: Front Pediatr (2021)
Keywords: mr spectroscopy, diffuse leptomeningeal glioneuronal tumor, imaging, meningitis, tuberculosis
MeSH terms: Case Reports

Background: Diffuse leptomeningeal glioneuronal tumor (DL-GNT) is a new entity described in the 2016 World Health Organization (WHO) classification of brain tumors. While DL-GNT is predominantly an indolent tumor that affects young boys, high-grade DL-GNT is unusual and seldom reported in children. Case Presentation: In this report, we describe the challenges and pitfalls associated with diagnosing this high-grade variant in a tuberculosis-endemic region. We highlight the importance of identifying non-typical imaging findings, i.e., non-enhancing cystic lesions with high T2 signal along the leptomeningeal surface, that may expedite the diagnosis of this condition. Histopathologic correlations with MR spectroscopy findings are also discussed. Conclusion: We provide the first clinical imaging report of utilizing MR spectroscopy to distinguish DL-GNT from tuberculosis with histopathologic correlation.
A Rare Case of Double-System With Ectopic Ureteral Openings Into Vagina
Authors: Carmen Duicu, Eva Kiss, Iunius Simu, Cornel Aldea
Journal: Front Pediatr (2018)
Keywords: child, computed tomography, ectopic ureter, urinary incontinence, vagina
MeSH terms: Case Reports

The presence of an ectopic ureter may be indicated by continuous wetting, despite a normal voiding pattern, especially in girls. In most cases, an ectopic ureter is associated with a duplex collecting system and complete ureteral duplication. A 5-year-old girl presented with urinary incontinence regardless of the successful toilet training and a suspicion of left duplex kidney on a previous ultrasound. Contrast-enhanced computed tomography revealed a double left kidney with double ureters, both inserting together into the vagina. The surgical treatment consisted in the "en block" reimplantation of the ectopic ureters into the bladder, with complete resolution of the symptoms. The reported case does not represent just a typical presentation of a single ectopic ureter, as the duplex kidney system had ectopic both ipsilateral ureters (with insertion into the vagina). This case reminds us that congenital abnormalities of the genito-urinary tract should be considered in case of urinary incontinence and recurrent urinary tract infections.
Cystic Echinococcosis: A Case of Extrahepatic Intra-Abdominal Involvement
Authors: Patrícia Leitão, André Carvalho, Teresa Fernandes, José Gonçalves
Journal: Case Rep Radiol (2017)
MeSH terms: Case Reports

Hydatid disease, or echinococcal disease, is a parasitic infestation caused by the larval stage of the Echinococcus tapeworm and it primarily affects the liver and lung but involvement of other organs is also possible secondary to peritoneal seeding or hematogeneous dissemination. We describe a rare case of extensive abdominal disease, with lesions affecting the liver, peritoneum, and lesser omentum, requiring aggressive surgical intervention. Complementary diagnostic exams were crucial to reach the diagnosis and evaluate the extension of the disease.
Contingency management for patients with cooccurring disorders: evaluation of a case study and recommendations for practitioners
Authors: Claire E Adams, Carla J Rash, Randy S Burke, Jefferson D Parker
Journal: Case Rep Psychiatry (2012)
MeSH terms: Case Reports

Research indicates that contingency management (CM) has potential to improve a number of outcomes (e.g. substance use, treatment attendance, quality of life) among individuals with substance use and cooccurring disorders. However, multiple factors must be considered on a case-by-case basis in order to promote optimal treatment effects. The present study describes an individualized CM protocol for a US Veteran with substance dependence and cooccurring severe mental illness. CM targeted attendance at outpatient appointments and appropriate use of hospital resources. Effects of CM were assessed by comparing the 3-month baseline and CM periods. The CM intervention marginally reduced unnecessary hospital admissions, resulting in cost savings to the medical center of over $5,000 in three months for this individual. However, CM did not affect outpatient attendance. Several complications arose, highlighting challenges in using CM in populations with substance use and cooccurring disorders. Practical suggestions are offered for maximizing the effects of CM.
Giant serpentine aneurysm of the internal cerebral artery and mandibular aneurysm: a case report
Authors: Qiao Deng, Wen Feng Feng
Journal: Chin Neurosurg J (2019)
Keywords: giant serpentine aneurysm, leo stent, mandibular aneurysm, tubridge flow diverter
MeSH terms: Case Reports

Background:
Giant serpentine aneurysms (GSA) originate from saccular or spindle aneurysm, dissimilar from dissected aneurysm, that are defined as partially thrombosed giant aneurysms with tortuous internal vascular channel. The clinical and neuroradiologic characteristics are clarified and the mechanism of formation and the efficacy of double stent implantation in GSA are discussed.
Case presentation:
An 18-year-old man presented himself with a GSA arising from the internal cerebral artery (ICA). In addition, a mandibular aneurysm (MA) arose from the external cerebral artery (ECA). Success was achieved in treating GSA through endovascular treatment with double stents implanted in the parent artery, which were LEO stent and Tubridge flow diverter. After 1 year of follow-up, three-dimensional reconstruction of blood vessels revealed the disappearance of the serpentine access of GSA, which was found to be replaced with a roughly normal vascular structure.
Conclusions:
Double stent implantation has provided a feasible treatment option for giant serpentine internal carotid aneurysms and eliminated the possibility of causing collateral circulation occlusion. Therefore, it represents a simple and suitable treatment method for anatomical structure and operation.
Clinical characteristics and therapeutic procedure for a critical case of novel coronavirus pneumonia treated with glucocorticoids and non-invasive ventilator treatment
Authors: Juanjuan Zhu, Wei Zhou, Mingyu Zhou, Yang Liu, Jing Yang, Haiyang Li, Xueke Zhao
Journal: Rev Soc Bras Med Trop (2020)
MeSH terms: Betacoronavirus, Coronavirus Infections / therapy, Glucocorticoids / administration & dosage, Pneumonia, Viral / therapy, Case Reports, COVID-19, Combined Modality Therapy, Coronavirus Infections / diagnostic imaging, Female, Humans, Middle Aged, Noninvasive Ventilation, Pandemics, Pneumonia, Viral / diagnostic imaging, SARS-CoV-2, Tomography, X-Ray Computed, Treatment Outcome, Glucocorticoids

The novel coronavirus pneumonia (NCP) outbreak occurred in Wuhan, China at the end of 2019. Here, we report the clinical characteristics and therapeutic procedure for a case of severe NCP. The patient was started on glucocorticoids and non-invasive ventilator treatment. After treatment, the patient's symptoms improved, and the status was confirmed as NCP negative. Our results may provide clues for the treatment of NCP.
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4
Authors: Nikoletta Selenti, Maria Tzetis, Maria Braoudaki, Krinio Gianikou, Sofia Kitsiou-Tzeli, Helen Fryssira
Journal: Mol Cytogenet (2015)
MeSH terms: Case Reports

Background:
There are three distinct subtypes of Trichorhinophalangeal syndrome (TRPS); TRPS type I, TRPS type II and TRPS type III. Features common to all three subtypes include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose (pear-shaped), and protruding ears. Langer-Giedion syndrome (LGS) or TRPS type II is a contiguous gene syndrome on 8q24.1, involving loss of functional copies of the TRPS1 and EXT1 genes. We report a male patient that was referred to the Department of Medical Genetics due to hypotonia and dysmorphic facial features.
Results:
Cytogenetic and array- Comparative Genomic Hybridization (aCGH) analysis revealed that the patient was a carrier of an interstitial deletion at 8q23.1-q24.12 of 12,5 Mb. Parental karyotype indicated that the father carried an apparently balanced insertion: 46, ΧΥ, der(10)ins(10;8)(q22;q23q24).
Conclusions:
This is the first report of an apparently balanced insertion including chromosomes 8 and 10 contributing to the etiology of LGS/ TRPS type II. Τimely diagnosis of parental balanced chromosomal rearrangements can reduce the risk of subsequent miscarriages as well as abnormal offspring.
Juvenile Myelomonocytic Leukemia in a Child: A Case Report of Palliative Chemotherapy and Literature Review Applied to Limited Resources Centers
Authors: Natharina Yolanda, Stefanus Gunawan, Max F J Mantik, Anjo J P Veerman
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

Juvenile myelomonocytic leukemia (JMML) is a rare hematopoietic malignancy in children, with an incidence of 1.2 per million children per year. At this moment, we present a case report and a brief literature review of JMML in a child, primarily focused on its applicability in low-middle income countries. A 3.5-year-old male was referred to our tertiary center due to pallor, enlarging abdomen and neck mass, recurrent fever, and chronic diarrhea. Initial laboratory workup showed hemoglobin of 6.4 g/dl, white blood cell of 315.62 × 103/μL, and platelet of 17 × 103/μL. Blood smears showed 10% suspected blasts, 17% myelocytes, and 17% metamyelocytes with thrombocytopenic crisis. The HbF level was 5.8%. BCR-ABL gene tested negative. The patient was diagnosed with juvenile myelomonocytic leukemia. Considering that HSCT could not be done in our center and lack other financial possibilities to seek treatment abroad, the family agreed to do the palliative treatment. The patient was treated with oral 6-mercaptopurine and subcutaneous cytarabine. Four weeks after receiving 6-mercaptopurine, the white blood cell count decreased to 10.6 × 103/μL and the spleen size was half of the original size. The patient continued chemotherapy until week 15, chemotherapy was stopped, but 16 weeks after the diagnosis of JMML, he developed severe thrombocytopenia, endophthalmitis, and sepsis and passed away. As a conclusion, in JMML cases in developing countries without HSCT, palliative chemotherapy is acceptable, and palliative care is an important aspect.