OpenMed/multicare-articles huggingface dataset:
Case Report: A Case of X-Linked Agammaglobulinemia With High Serum IgE Levels and Allergic Rhinitis
Authors: Bianca Cinicola, Andrea Uva, Lucia Leonardi, Daniele Moratto, Silvia Giliani, Rita Carsetti, Simona Ferrari, Anna Maria Zicari, Marzia Duse
Journal: Front Immunol (2020)
Keywords: btk gene, ige production, x-linked agammaglobulinemia, allergy, mild phenotype, protein expression
MeSH terms: Agammaglobulinaemia Tyrosine Kinase / genetics, Agammaglobulinemia / diagnosis, B-Lymphocytes / pathology, Genetic Diseases, X-Linked / diagnosis, Immunoglobulin E / blood, Rhinitis, Allergic / diagnosis, Case Reports, Agammaglobulinemia / complications, Agammaglobulinemia / genetics, Cell Differentiation, Child, Genetic Diseases, X-Linked / complications, Genetic Diseases, X-Linked / genetics, Humans, Male, Mutation / genetics, Phenotype, Rhinitis, Allergic / complications, Rhinitis, Allergic / genetics, Up-Regulation, Immunoglobulin E, Agammaglobulinaemia Tyrosine Kinase, BTK protein, human, Bruton type agammaglobulinemia

X-linked Agammaglobulinemia (XLA) is a rare genetic disorder of B-lymphocyte differentiation, characterized by the absence or paucity of circulating B cells, markedly reduced levels of all serum immunoglobulin isotypes and lack of specific antibody production. Bruton Tyrosine Kinase (BTK) gene encodes a cytoplasmic tyrosine kinase involved in the B cell maturation and its mutation, blocking B cell differentiation at the pre-B cell stage, and is responsible for XLA. All domains may be affected by the mutation, and the many genotypes are associated with a wide range of clinical presentations. Little is known about genotype-phenotype correlation in this disorder, and factors influencing the phenotype of XLA are not clearly understood. In this report we present a unique case of a young patient affected by XLA. The disease was genetically diagnosed at birth due to a family history of XLA, but during follow up, it was characterized by a CD19+ B cell percentage consistently greater than 2%. He never suffered severe infections, but at two years of age, he developed persistent rhinitis. Thus, total serum IgE levels were measured and detected over the normal range, and specific allergic investigations showed sensitization to dust mites. Further immunological tests (BTK expression, functional "in vitro" B cell proliferation upon CpG stimulation, B cell subset analysis) explained these findings as possible manifestations of a mild XLA phenotype. XLA patients rarely present with allergic manifestations, which could warrant further investigation. High serum IgE levels could be a sign of a mild phenotype, but their role and the mechanisms underlying their production in XLA need to be clarified.
Successful Treatment of ANCA-Negative Wegener's Granulomatosis with Rituximab
Authors: Afsha Khan, Catherine A Lawson, Mark A Quinn, Amanda H Isdale, Michael J Green
Journal: Int J Rheumatol (2010)
MeSH terms: Case Reports

Wegener's Granulomatosis (WG) is a systemic vasculitis typically associated with antineutrophil cytoplasmic antibodies (ANCAs). A small proportion of patients are ANCA negative, however, and this is more commonly found in individuals with disease limited to the ears, nose, throat, and lungs, who do not have renal involvement. Rituximab is a monoclonal anti-CD20 antibody that has been demonstrated to be effective in the treatment of autoantibody-associated rheumatic diseases, including systemic WG. We report the case of a patient with ANCA-negative WG who responded well to rituximab, illustrating that even in the absence of detectable autoantibodies, B-cell depletion can be effective.
Spontaneous Recurrent Hemarthrosis of the Knee: A Report of Two Cases with a Source of Bleeding Detected during Arthroscopic Surgery of the Knee Joint
Authors: Eisuke Nomura, Hisatada Hiraoka, Hiroya Sakai
Journal: Case Rep Orthop (2016)

We report two cases of the spontaneous recurrent hemarthrosis of the knee. In these cases lateral meniscus was severely torn and a small tubular soft tissue with pulsation was identified on the synovium in the posterolateral corner during arthroscopic surgery of the knee joint. Gentle grasping of this tissue by forceps led to pulsating bleeding, which stopped by electrocoagulation. This soft tissue was considered a source of bleeding, since no recurrence of hemarthrosis was observed for more than four years after surgery. It was highly probable that this soft tissue was the ruptured end of the lateral inferior genicular artery or its branch. This case report strongly supports the theory that the bleeding from the peripheral arteries of the posterior portion of the lateral meniscus is the cause of spontaneous recurrent hemarthrosis of the knee.
A Rare Malignant Transformation of an Ovarian Cystic Teratoma: A Case Report
Authors: Manju Rachel Mathew, Anita Ramdas, Susy S Kurian, Linu Kuruvilla, Neelima Singh
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Mature cystic teratoma (MCT) is the commonest germ cell neoplasm of the ovary but malignant transformation is a rare occurrence (1-2%). Of these malignancies documented in literature the commonest are squamous cell carcinoma and adenocarcinoma. Urothelial carcinomas arising in an MCT are a rare occurrence and only 7 cases have been reported in literature. We report a case of an MCT which was complicated by the presence of urothelial carcinoma confirmed on histopathological examination.
Noncompaction and Dilated Cardiomyopathy in a Patient with Schizophrenia
Authors: Josef Finsterer, Claudia Stöllberger
Journal: Case Rep Cardiol (2016)

Objectives. Psychosis and left ventricular hypertrabeculation (or noncompaction) (LVHT) have not been described in the same patient. Here we report a patient with a long-term history of schizophrenia who was later diagnosed with dilated cardiomyopathy (dCMP) and LVHT. Case Report. A 47-year-old Caucasian male developed nondifferentiated schizophrenia at the age of 26 y. Since the age of 33 y he was regularly drinking alcohol. At the age of 47 y he developed heart failure. Transthoracic echocardiography showed an enlarged left ventricle, reduced systolic function, and surprisingly LVHT in the apical segment. Additionally, the left atrium was enlarged, the right ventricular cavities were mildly enlarged, and there were pulmonary hypertension and a small pericardial effusion. Cardiac MRI confirmed the echocardiographic findings. Since coronary angiography was normal, dilated cardiomyopathy was additionally diagnosed. Since he was taking clozapine during years, dilated cardiomyopathy could be due to not only alcohol consumption but also the long-term neuroleptic medication. Conclusions. LVHT may be associated with nondifferentiated psychosis. Management of LVHT is challenging in patients with psychosis due to poor compliance and adherence of these patients. Patients with LVHT and psychosis need particular attention since they usually take cardiotoxic drugs for a long time, which may further deteriorate the prognosis of LVHT.
Case report: Going through pregnancy safely after twice partial nephrectomy for bilateral kidneys with HLRCC-associated RCC
Authors: Kunhan Dai, Wencheng Jiang, Siyu Chen, Shengjun Luo, Siwei Ding, Delin Wang
Journal: Front Oncol (2022)
Keywords: fh, hereditary carcinoma, partial nephrectomy, pregnancy, renal cell carcinoma
MeSH terms: Case Reports

Background:
HLRCC-associated RCC (hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinoma) caused by germline mutations of the fumarate hydratase (FH) gene is a rare autosomal dominant genetic renal cancer. At present, there are no reports of bilateral kidneys with HLRCC-associated RCC, let alone safe pregnancy after twice partial nephrectomy for bilateral kidney HLRCC-associated RCC.
Case presentation:
We report a 25-year-old woman with bilateral renal tumors detected by ultrasound screening during a routine checkup. CT revealed a soft tissue mass in the parenchyma of the left kidney and a nodular soft tissue mass in the lower pole of the right kidney. She underwent robot-assisted laparoscopic left partial nephrectomy and underwent laparoscopic right partial nephrectomy 3 months after the first surgery. Heterozygous mutation in the FH gene on the patient's tumor tissue was detected by genetic testing. Combined with the patient's medical history, microstructure and immunohistochemical staining of tumor tissue, and genetic test results, the pathological reports after two operations concluded HLRCC-associated RCC. Then, she was injected with interferon and nivolumab as a preventative treatment against tumor recurrence. Up to 38 months after surgery, having given birth to a baby, till now there was no tumor progression.
Conclusions:
This is a clinically significant case, as it provides a reference for pregnancy in patients undergoing partial nephrectomy for bilateral kidneys with HLRCC-associated RCC and may indicate an effective approach to preventing tumor recurrence by nivolumab in patients with HLRCC-associated RCC.
Case report: Transcatheter tricuspid valve-in-valve implantation using novel balloon-expandable aortic valve with 1 year follow-up
Authors: Abdurashid Mussayev, Serik Alimbayev, Nursultan Tanaliev, Aidyn Kuanyshbek, Aripov Marat, Timur Lesbekov, Yerkezhan Raissov, Aigerim Sadykova, Askarovna Kenzhebayeva Kamila, Murat Mukarov, Yuriy Pya
Journal: Front Cardiovasc Med (2023)
Keywords: myval transcatheter heart valve, balloon expandable heart valves, bioprosthetic heart valve, tricuspid valve, valve-in-valve procedure, valvular heart disease
MeSH terms: Case Reports

Generally, the dysfunction or failure of bioprosthetic heart valves (BHVs) is managed by replacement surgery. In the case of tricuspid valve dysfunction, re-do surgery is rarely attempted because of the critically high risk of developing pulmonary hypertension, pulmonary embolism, and intraoperative mortality. Hence, transcatheter tricuspid repair and replacement procedures are preferred. More recently, transcatheter valve-in-valve (ViV) treatments have gained importance because of their less invasiveness, especially for patients with prior surgeries. Encouraging evidence of the safety and effectiveness of a novel balloon-expandable (BE) transcatheter heart valve (THV)-the Myval THV-has been reported for ViV procedures. Here, we present a case-series of 5 patients, in whom tricuspid ViV procedure was performed using BE Myval THV, implanted supra-annularly by anchoring onto the deteriorated BHV. This case-series details the procedural steps to prevent in-hospital adverse events and early (30-day) mortality and the challenges during tricuspid ViV interventions.
Multiple hepatic and osseous focal lesions without splenomegaly and/or lymph nodes enlargement
Authors: Maged T Elghannam, Moataz H Hassanien, Yosry A Ameen, Gamal M ELattar, Ahmed A ELRay, Mohammed D ELtalkawy, Ahmed Y Montasser
Journal: Egypt Liver J (2023)
Keywords: chemotherapy, immunohistochemical staining, multiple hepatic focal lesions, primary hepatic lymphoma, radiologic images
MeSH terms: Case Reports

Background:
Hepatic involvement is a common extranodal manifestation of common and some rare hematologic malignancies. Although the imaging features of more common hepatic diseases such as hepatocellular carcinoma, metastases, and infection may overlap with those of hepatic hematologic malignancies, combining the imaging features with clinical manifestations and laboratory findings can facilitate correct diagnosis. Imaging has an important role in the diagnosis of hepatic focal lesions.
Case presentation:
A case presented with isolated multiple hepatic focal lesions without nodal or spleen enlargement diagnosed only by immunohistochemical study and turned out to be primary hepatic lymphoma (PHL). PHL is rare with roughly 100 described cases and accounts for less than 1% of all non-Hodgkin lymphomas. Osseous involvement adds more challenge to the diagnosis.
Conclusion:
Hepatologists must be aware of PHL as it may be confused with more common hepatic diseases, mainly multifocal HCC and/or hepatic metastasis.
Infantile Iatrogenic Cushing Syndrome due to Topical Steroids
Authors: Lulwah Alkhuder, Horia Mawlawi
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Cushing syndrome is an endocrinological disorder characterized by increased free plasma glucocorticoids level. It is either due to an excessive endogenous release of steroids (e.g., pituitary adenoma or adrenal hyperplasia) or exogenous administration of steroids. In children, iatrogenic Cushing syndrome is the most common form of Cushing syndrome occurring in this age group. The vast majority of cases are due to oral or parenteral preparation of steroids, which are commonly prescribed for pulmonary, hematological, renal, or autoimmune pathologies. Topical preparations can rarely cause Cushing syndrome in young children, and only a few cases were reported in the literature, where the patients were older than 5 months of age. In this report, we present a three-month-old girl who developed iatrogenic Cushing syndrome due to prolonged and inappropriate use of topical clobetasol cream for napkin dermatitis.
Case Study of Recognition Patterns in Haunted People Syndrome
Authors: James Houran, Brian Laythe
Journal: Front Psychol (2022)
Keywords: anomalous experiences, entity encounters, hauntings, paranormal belief, transliminality

Haunted People Syndrome (HP-S) denotes individuals who recurrently report various "supernatural" encounters in everyday settings ostensibly due to heightened somatic-sensory sensitivities to dis-ease states (e.g., marked but sub-clinical levels of distress), which are contextualized by paranormal beliefs and reinforced by perceptual contagion effects. This view helps to explain why these anomalous experiences often appear to be idioms of stress or trauma. We tested the validity and practical utility of the HP-S concept in an empirical study of an active and reportedly intense ghostly episode that was a clinical referral. The case centered on the life story of the primary percipient, a retired female healthcare worker. Secondary percipients included her husband and adult daughter, all of whom reported an array of benign and threatening anomalies (psychological and physical in nature) across five successive residences. Guided by prior research, we administered the family online measures of transliminality, sensory-processing sensitivity, paranormal belief, locus of control, desirability for control, and a standardized checklist of haunt-type phenomena. The primary percipient also completed a measure of adverse childhood events and supplied an event diary of her anomalous experiences. We found reasonably consistent support for HP-S from a set of quantitative observations that compared five proposed syndrome features against the family members' psychometric profiles and the structure and contents of their anomalous experiences. Specifically, the reported anomalies both correlated with the family's scores on transliminality and paranormal belief, as well as elicited attributions and reaction patterns aligned with threat (agency) detection. There was also some evidence of perceptual congruency among the family members' anomalous experiences. Putative psi cannot be ruled out, but we conclude that the family's ordeal fundamentally involved the symptoms and manifestations of thin (or "permeable") mental boundary functioning in the face of unfavorable circumstances or overstimulating environments and subsequently acerbated by poor emotion regulation, histrionic and catastrophizing reactions, and active confirmation biases.
Diagnosis and treatment of a diaphragmatic pheochromocytoma: A case report
Authors: Xiangan Wu, Bao Jin, Shi Chen, Shunda Du, Yilei Mao, Xinting Sang
Journal: Int J Surg Case Rep (2020)
Keywords: diaphragm paraganglioma, mibg, preoperative preparation, surgery
MeSH terms: Case Reports

Background:
Ectopic pheochromocytomas, the incidence of which is >15%, can occur throughout the entire body but seldom on the diaphragm. Surgery may the first-choice treatment for ectopic pheochromocytomas.
Presentation of case:
We herein describe a 61-year-old woman with an atopic diaphragmatic pheochromocytoma. She had a 7-year history of paroxysmal headaches, palpitations, and hypertension with no obvious causes; these symptoms were alleviated by nifedipine and metoprolol. Computed tomography (CT) revealed a slightly hypodense lesion on top of the right hepatic lobe. A Metaiodobenzylguanidine (MIBG) scan showed increased radioactive in the lesion. After adequate preoperative preparation, we removed the mass. During the operation, we found that the mass was located on the diaphragm. The pathological examination showed that the main pathologic change was paraganglioma. The patient recovered well after surgery with no recurrence of her hypertension, palpitation, or headache.
Conclusions:
Diaphragmatic pheochromocytoma is a rare kind of ectopic pheochromocytomas, which can also affect the patient's quality of life. Combination of qualitative and positioning tests can assist in diagnosis of ectopic pheochromocytoma. Surgical resection is an effective treatment method.
Ruptured splenic artery aneurysms and the use of an adapted fast protocol in reproductive age women with hemodynamic collapse: case series
Authors: Hope T Jackson, Silviu C Diaconu, Patrick J Maluso, Bruce Abell, Juliet Lee
Journal: Case Rep Emerg Med (2014)

Nontraumatic symptomatic hypotension in all patients requires prompt diagnosis and appropriate treatment for optimum outcome. The female population specifically has an expanded differential diagnosis that should be considered when these patients present with hemodynamic collapse. While the most common causes of hypotension in pregnant patients are dehydration, ruptured ectopic pregnancy, and placental and uterine abnormalities, less common nonobstetrical etiologies such as hepatic rupture and ruptured abdominal and visceral artery aneurysms should also be considered. Splenic artery aneurysms are associated with high rates of mortality and in cases of pregnancy, maternal and fetal mortality. These high rates can be attributed to the asymptomatic nature of the aneurysm, rapid deterioration after rupture, and frequent misdiagnosis. In patients with hemodynamic collapse, the role of traditional imaging is limited mainly due to the critical condition of the patient. Bedside ultrasound has emerged as a diagnostic imaging resource in patients with undifferentiated hypotension and in patients with traumatic injuries. However, its use has not been studied specifically in the female population. We present two patients with ruptured splenic artery aneurysms, discuss the role of bedside ultrasound in their management, and introduce a new ultrasound protocol for use in reproductive age female patients with hemodynamic collapse.
Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
Authors: Siham Chafai Elalaoui, Nawfal Fejjal, Yun Li, Holger Thiele, Janine Altmüller, Soukaina Guaoua, Peter Nürnberg, Bernd Wollnik, Abdelaziz Sefiani, Ilham Ratbi
Journal: Pan Afr Med J (2021)
Keywords: homozygous mutation, wtn10b gene, case report, split-hand foot malformation
MeSH terms: Limb Deformities, Congenital / diagnosis, Proto-Oncogene Proteins / genetics, Wnt Proteins / genetics, Case Reports, Child, Codon, Nonsense, Exome / genetics, Female, Homozygote, Humans, Limb Deformities, Congenital / genetics, Limb Deformities, Congenital / physiopathology, Morocco, Codon, Nonsense, Proto-Oncogene Proteins, WNT10B protein, human, Wnt Proteins, Split-Hand-Foot Malformation 6

Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-confined manifestations or syndromic with extra-limb manifestations. Isolated SHFM is a rare condition with an incidence of about 1 per 18,000 live born infants and accounts for 8-17 % of all limb malformations. To date, many chromosomal loci and genes have been described as associated with isolated SHFM, i.e., SHFM1 to 6. SHFM6 is one of the rarest forms of SHFM, and is caused by mutations in WNT10B gene. Less than ten pathogenic variants have been described. We have investigated a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes. Using an exome sequencing approach, we identified a homozygous nonsense variant p.Arg115* of WNT10B gene retaining thereby the diagnosis of SHFM6. This homozygous nonsense mutation identified by exome sequencing in a large family of split hand foot malformation highlights the importance of exome sequencing in genetically heterogeneous entities.
Dentin dysplasia type I: a case report and review of the literature
Authors: Lida Toomarian, Fatemeh Mashhadiabbas, Mahkameh Mirkarimi, Leili Mehrdad
Journal: J Med Case Rep (2010)

Introduction:
Dentin dysplasia is a rare hereditary disturbance of dentin formation characterized by defective dentin development with clinically normal appearing crowns, severe hypermobility of teeth and spontaneous dental abscesses or cysts. Radiographic analysis shows obliteration of all pulp chambers, short, blunted and malformed or absent roots and peri-apical radiolucencies of non carious teeth.
Case presentation:
We present a case of dentin dysplasia type I in a 12-year-old Iranian boy, and the clinical, radiographic and histopathologic findings of this condition and treatment are described.
Conclusions:
There are still many inconclusive issues in the diagnosis and management of patients with dentin dysplasia. The diagnostic features of this rare disturbance will remain incompletely defined until additional cases have been described. Early diagnosis of the condition and initiation of effective regular dental treatments may help these patients to prevent or delay loss of dentition.
Combined Liver-Kidney Transplantation for Hepatorenal Syndrome
Authors: V Kanubhai Sutariya, A Tank, P Ramanlal Modi
Journal: Int J Organ Transplant Med (2015)
Keywords: combined liver-kidney transplantation, hepatorenal syndrome, renal replacement therapy
MeSH terms: Case Reports

Among various complications of end-stage liver disease, hepatorenal syndrome has the highest mortality. Patients with both end-stage liver disease and end-stage renal disease are candidates for combined liver-kidney transplantation. However, patients with cirrhosis with decompensation presenting in the form of hepatorenal syndrome, are also likely candidates for the procedure. Herein, we present a patient who underwent combined liver-kidney transplantation for hepatorenal syndrome.