OpenMed/multicare-articles huggingface dataset:
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report
Authors: Maulik Shah, Brian Bogucki, Melissa Mavers, Daphne E deMello, Alan Knutsen
Journal: BMC Med Genet (2005)
MeSH terms: Abnormalities, Multiple / pathology, Common Variable Immunodeficiency / complications, Heart Block / etiology, Heart Conduction System / abnormalities, Heart Defects, Congenital / complications, Heart Failure / etiology, Case Reports, Fatal Outcome, Humans, Infant, Newborn, Male, Syndrome

Background:
Since it's recognition in 1981, a more complete phenotype of Kabuki syndrome is becoming evident as additional cases are identified. Congenital heart defects and a number of visceral abnormalities have been added to the typical dysmorphic features originally described.
Case report:
In this report we describe the clinical course of a child diagnosed with Kabuki syndrome based on characteristic clinical, radiological and morphologic features who died of a cardiac arrhythmia at 11-months of age. This infant, however, had abnormal pulmonary architecture and alterations in his cardiac conduction system resulting in episodes of bradycardia and asystole. This child also had an immunological phenotype consistent with common variable immunodeficiency. His clinical course consisted of numerous hospitalizations for recurrent bacterial infections and congenital hypogammaglobulinemia characterized by low serum IgG and IgA but normal IgM levels, and decreased antibody levels to immunizations. T-, B- and NK lymphocyte subpopulations and T-cell function studies were normal.
Conclusion:
This child may represent a more severe phenotype of Kabuki syndrome. Recurrent infections in a child should prompt a thorough immunological evaluation. Additionally, electrophysiology testing may be indicated if cardiopulmonary events occur which are not explained by anatomic defects.
Metastatic "Burned Out" Seminoma Causing Neurological Paraneoplastic Syndrome-Not Quite "Burned Out"
Authors: Yuval Freifeld, Payal Kapur, Ritika Chitkara, Francesca Lee, Pravin Khemani, Aditya Bagrodia
Journal: Front Neurol (2018)
Keywords: burned out tumor, cerebellar ataxia, germ cell tumor, limbic encephalitis, testicular cancer
MeSH terms: Case Reports

A 44-year-old man presented with cerebellar ataxia and limbic encephalitis and was ultimately diagnosed with metastatic germ cell neoplasm resulting from a "burned out" primary testicular tumor. The patient had progressive ataxia, leading to a thorough investigation for infectious, autoimmune, metabolic, and malignant causes of acquired cerebellar ataxia that revealed no significant findings. Testicular sonography demonstrated a possible right testicular lesion that was not confirmed on radical inguinal orchiectomy. F18-FDG positron emission tomography/computerized tomography scan revealed a solitary retroperitoneal lesion, concerning for metastatic disease but not amenable to percutaneous biopsy. A robotic retroperitoneal lymph node dissection was performed and pathology revealed a CD117-positive metastatic seminoma leading to appropriate germ cell tumor-directed chemotherapy. After completing chemotherapy and during 1 year of follow-up, there has been a gradual improvement of the patient's neurological manifestations.
Acute myeloid leukemia presenting as unilateral central retinal vein occlusion
Authors: Ashok Kumar, Sandeep Shankar, Divya Kochhar, Amit Arora, Kapil Kumar
Journal: GMS Ophthalmol Cases (2022)
MeSH terms: Case Reports

Ocular manifestations of leukemia are often bilateral and involve all ocular structures with non-specific features like retinal hemorrhages, cotton wool spots and choroidal infiltrates. We report a rare, atypical initial presentation of acute myeloid leukemia with unilateral central retinal vein occlusion in a middle-aged male. This case will raise awareness among ophthalmologists to recognize and diagnose underlying systemic disease early and decrease systemic morbidity in consultation with a hematologist.
Annular leukocytoclastic vasculitis associated with anti-tuberculosis medications: a case report
Authors: Kumutnart Chanprapaph, Wanjarus Roongpisuthipong, Kunlawat Thadanipon
Journal: J Med Case Rep (2013)

Introduction:
Anti-tuberculosis drug-induced cutaneous leukocytoclastic vasculitis has been rarely reported. To the best of our knowledge, this is the first reported case of annular leukocytoclastic vasculitis associated with anti-tuberculosis drug administration.
Case presentation:
We report a case of annular leukocytoclastic vasculitis induced by anti-tuberculosis medication. A 62-year-old Thai man presented to our facility with a generalized exanthematous rash on his trunk and extremities that resolved shortly afterwards. Subsequently, he developed multiple, erythematous-to-purplish, non-blanchable macules and papules with an annular arrangement on his extremities. The skin rash occurred after two weeks of anti-tuberculosis medication. The histopathology of the purpuric skin lesion was consistent with leukocytoclastic vasculitis. The skin lesion improved after discontinuation of the anti-tuberculosis drugs and treatment with oral antihistamine and topical corticosteroid drugs. Streptomycin, ethambutol and ofloxacin were administered as second-line anti-tuberculosis therapy during his hospitalization. No adverse reactions were observed.
Conclusions:
Leukocytoclastic vasculitis should be considered in the differential diagnosis of annular non-blanchable macules and papules. Although rare, anti-tuberculosis drugs should be considered potential causes of drug-induced annular leukocytoclastic vasculitis.
Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature
Authors: Ruizhi Deng, Melysia T McCalman, Thomas P Bossuyt, Tahsin Stefan Barakat
Journal: Front Genet (2021)
Keywords: bafopathies, smarcc2, chromosome, clinical genetics, deletion 12q, reverse phenotyping
MeSH terms: Case Reports

Interstitial deletions on the long arm of chromosome 12 (12q deletions) are rare, and are associated with intellectual disability, developmental delay, failure to thrive and congenital anomalies. The precise genotype-phenotype correlations of different deletions has not been completely resolved. Ascertaining individuals with overlapping deletions and complex phenotypes may help to identify causative genes and improve understanding of 12q deletion syndromes. We here describe two individuals with non-overlapping 12q14 deletions encountered at our clinical genetics outpatient clinic and perform a review of all previously published interstitial 12q deletions to further delineate genotype-phenotype correlations. Both individuals presented with a neurodevelopmental disorder with various degrees of intellectual disability, failure to thrive and dysmorphic features. Previously, larger deletions overlapping large parts of the deletions encountered in both individuals have been described. Whereas, individual 1 seems to fit into the previously described phenotypic spectrum of the 12q14 microdeletion syndrome, individual 2 displays more severe neurological symptoms, which are likely caused by haploinsufficiency of the BAF complex member SMARCC2, which is included in the deletion. We furthermore perform a review of all previously published interstitial 12q deletions which we found to cluster amongst 5 regions on chromosome 12, to further delineate genotype-phenotype correlations, and we discuss likely disease relevant genes for each of these deletion clusters. Together, this expands knowledge on deletions on chromosome 12q which might facilitate patient counseling. Also, it illustrates that re-analysis of previously described microdeletions syndromes in the next generation sequencing era can be useful to delineate genotype-phenotype correlations and identify disease relevant genes in individuals with neurodevelopmental disorders.
Chest Wall Mass in Infancy: The Presentation of Bone-Tumor-Like BCG Osteitis
Authors: Phumin Chaweephisal, Teesit Torchareon, Shanop Shuangshoti, Piti Techavichit
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Chest wall mass in infancy is rare. Malignant lesions are more common than infection or benign tumors. This is a case of a 12-month-old girl who presented with a 2 cm mass at the right costal margin and poor weight gain. Chest radiograph demonstrated a moth-eaten osteolytic lesion at the 8th rib. The resection was performed, and a mass with pus content was found. The positive acid fast stain (AFB) organism was noted. Pathology confirmed caseous granulomatous inflammation compatible with mycobacterial infection. However, QuantiFERON-TB Gold was negative, so Mycobacterium bovis (M. bovis) osteitis is highly suspected. She was treated with antimycobacterium drugs and showed good results. Osteomyelitis can manifest by mimicking bone tumors. Without a biopsy, the pathogen may go undetected. So, interventions such as biopsy are warranted and avoid mass resection without indication. High C-reactive protein (CRP), alkaline phosphatase (ALP), periosteal reaction of radiating spicules, and penumbra sign in magnetic resonance imaging (MRI) are helpful for discriminating osteomyelitis from bone tumor.
Case report: Complete remission of bone metastasis from renal cell carcinoma in histopathological examination after treatment with immune checkpoint inhibitors
Authors: Yohei Asano, Norio Yamamoto, Katsuhiro Hayashi, Akihiko Takeuchi, Shinji Miwa, Kentaro Igarashi, Takashi Higuchi, Yuta Taniguchi, Sei Morinaga, Takashi Horimoto, Masaharu Nakai, Yoshifumi Kadono, Takayuki Nojima, Hiroyuki Tsuchiya
Journal: Front Immunol (2022)
Keywords: bone metastasis (bm), immune checkpoint inhibitor (ici), nivolumab, pathological fracture, renal cell carcinoma (rcc)
MeSH terms: Bone Neoplasms / drug therapy, Carcinoma, Renal Cell / drug therapy, Carcinoma, Renal Cell / pathology, Fractures, Spontaneous / drug therapy, Kidney Neoplasms / pathology, Lung Neoplasms / drug therapy, Case Reports, Aged, Humans, Immune Checkpoint Inhibitors / therapeutic use, Ipilimumab / therapeutic use, Male, Nivolumab / therapeutic use, Quality of Life, Immune Checkpoint Inhibitors, Ipilimumab, Nivolumab

Recently, the prognosis of metastatic renal cell carcinoma (mRCC) has improved owing to the development of immunotherapy using immune checkpoint inhibitors (ICIs). However, there have been few studies on the therapeutic effect of ICIs in bone metastases from renal cell carcinoma (RCC). We report a case in which pulmonary and humeral metastases from RCC were significantly ameliorated using ICIs, while surgery for a pathological fracture of the humerus significantly improved the patient's quality of life (QoL). A 70-year-old man who underwent a left nephrectomy for RCC developed multiple pulmonary metastases and humeral metastasis with a pathological fracture one year after surgery, and combined treatment with nivolumab and ipilimumab was initiated. After four courses of ICI treatment, multiple pulmonary metastases had almost disappeared, and the tumor at the fracture site had shrunk remarkably. However, the shoulder joint function had decreased due to the fracture, worsening his QoL. Therefore, he underwent surgery and returned to normal daily life one month after. Postoperative histopathological examination of bone and soft tissue at the fracture site revealed no malignancy. To our knowledge, this is the first case report of complete remission of bone metastasis of RCC based on histopathological examination with ICI treatment.
Valproate in conversion disorder: a case report
Authors: Antonino Messina, Anna Maria Fogliani
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Few data are in literature about the pharmacological treatment of conversion disorder and there are not any studies about the use of Valproate extended release (ER) in treating conversion disorder. In this article, we are reporting a case of an Italian woman with a diagnosis of conversion disorder treated effectively and quickly by Valproate ER.
Recurrent Otogenic Intracranial Sepsis: A Key Radiological Finding, Not to Be Missed
Authors: Mark Aziz, Eugene Omakobia
Journal: Case Rep Otolaryngol (2019)
MeSH terms: Case Reports

Introduction:
Otogenic intracranial sepsis is a well-known and established complication of otitis media. It is a major cause of morbidity and mortality from otitis media. We present a case of recurrent otogenic intracranial sepsis and key findings on imaging.
Case report:
A 64-year-old male presented with two episodes of severe sepsis secondary to right sided otitis media. During the first episode, he suffered an episode of otogenic pneumococcal sepsis requiring intensive care admission. A year later, he suffered another episode of otogenic intracranial sepsis with evidence of encephalitis, which also required intensive care input. He underwent surgical management of his otitis media with a right myringotomy followed by grommet insertion.
Findings:
Both computerised tomography and magnetic resonance imaging of the temporal bones demonstrated a defect in the right tegmen tympani, through which a cyst herniated into the epitympanum. Postinfective changes were also noted in the right inferior temporal lobe.
Discussion:
Tegmen tympani defects are a rare but important risk factor for the spread of intracranial infections from the middle ear. In cases of recurrent otogenic intracranial sepsis, it is crucial to look for evidence of this finding on imaging.
Concomitant Mediterranean spotted fever and systemic lupus erythematosus: a rare case report
Authors: Nada Belhajsalah, Marwa Ben Brahim, Syrine Daada, Hajer Ben Brahim, Sonia Hammemi
Journal: Pan Afr Med J (2021)
Keywords: mediterranean spotted fever, case report, erythema nodosum, systemic lupus erythematosus
MeSH terms: Boutonneuse Fever / diagnosis, Doxycycline / administration & dosage, Lupus Erythematosus, Systemic / diagnosis, Case Reports, Boutonneuse Fever / drug therapy, Female, Humans, Lupus Erythematosus, Systemic / pathology, Middle Aged, Rickettsia conorii / isolation & purification, Doxycycline

Infections are an important cause of morbidity and mortality in Systemic Lupus Erythematosus (SLE). Mediterranean spotted fever (MSF) is a tick-borne disease caused by Rickettsia conorii. This infection is endemic in Tunisia with summer seasonality. Herein, the case of a 45 years old woman, admitted to hospital with fever and erythema nodosum. On examination, she had a diffuse skin rash, malar rash, and polyarthritis. Serology demonstrated Rickettsia Conoriiinfection. The diagnosis of MSF was made and the patient had a course of doxycycline for 5 days with a prompt improvement of the fever, the skin lesions but she had a persistent malar rash, polyarthritis, and lymphopenia. The immunological profile was positive for antinuclear antibodies (ANA), anti-DNA antibodies, anti-nucleosomes antibodies, and anti-citrullinated protein antibodies (ACPA). The diagnosis of SLE was established. We report the first case of SLE associated with MSF and with erythema nodosum as the initial presentation.
Surgical Treatment of Peri-Implantitis: A 17-Year Follow-Up Clinical Case Report
Authors: Fabrizio Bassi, Pier Paolo Poli, Davide Rancitelli, Fabrizio Signorino, Carlo Maiorana
Journal: Case Rep Dent (2015)

The purpose of the present case report was to describe the surgical treatment of a peri-implantitis lesion associated with a regenerative approach. A 48-year-old patient came to authors' attention 36 months after the placement of a dental implant (ITI-Bonefit Straumann, Waldenburg, Switzerland) in position 46. A swelling of the peri-implant soft tissues was observed, associated with bleeding on probing and probing depth > 10 mm. A significant peri-implant bone loss was clearly visible on the periapical radiograph. A nonsurgical periodontal supportive therapy was firstly conducted to reduce the inflammation, followed by the surgical treatment of the defect. After mechanical and chemical decontamination with tetracycline solution, a regenerative approach consisting in the application of deproteinized bovine bone mineral (Bio-Oss, Geistlich Pharma AG, Wolhusen, Switzerland) and a collagen membrane (Bio-Gide, Geistlich Pharma AG, Wolhusen, Switzerland) was performed. An antibiotic therapy was associated with the treatment. The 17-year follow-up showed a physiological probing depth with no clinical signs of peri-implant inflammation and bleeding on probing. No further radiographic bone loss was observed. The treatment described in the present case report seemed to show improved clinical results up to a relevant follow-up period.
Esophagobronchial fistula - A rare complication of aluminum phosphide poisoning
Authors: Sumeet Bhargava, Rajul Rastogi, Ajay Agarwal, Gaurav Jindal
Journal: Ann Thorac Med (2011)
Keywords: aluminum phosphide, esophagobronchial fistula, poisoning
MeSH terms: Case Reports

Aluminum phosphide is a systemic lethal poison. Fistulous communication between esophagus and airway tract (esophagorespiratory fistula) has rarely been reported in the survivors of aluminum phosphide poisoning. We report a case of benign esophagobronchial fistula secondary to aluminum phosphide poisoning, which to best of our knowledge has not been reported in the medical literature.
A Case of Peritoneal Encapsulation Presented as Acute Mechanical Small Bowel Obstruction: A Case Report and a Brief Literature Review
Authors: Khalil Abuzaina, Ahmad Abuayash, Hidaya Al-Shweiki, Mohammad O M Hroub, Anwar Yousef Jabari, Shayma Hafiz, Tuqa Abu Ihlayel, Balqees Mohsen, Sulaiman Naji Fakhouri, Murad Jaa'freh
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Peritoneal encapsulation (PE) is a rare congenital malformation in which the small intestine is partially or totally encased in a supplementary peritoneal sac. PE is usually asymptomatic; therefore, it is one of the rarest etiologies of bowel obstruction. Our patient presented at the age of 55 with no prior surgical history and a 3-day history of abdominal pain associated with nausea, vomiting, belching, and constipation. An obstruction secondary to an internal hernia-visualized on a CT scan-was suspected as the initial etiology. On exploratory laparotomy, the small bowel was covered by a thick adherent sac. These findings are consistent with PE, a condition that deserves recognition among clinicians worldwide. Intraoperatively, the sac was excised, and the small bowel was pulled up to the peritoneal cavity starting from the ileocecal valve to the duodenojejunal junction. In the postoperative period, the patient was managed with intravenous fluids, analgesics, and antibiotics. Wound infection was the only postoperative complication. Otherwise, all symptoms subsided, and the patient improved and was discharged home on the 8th postoperative day.
Diagnosis of primary amoebic meningoencephalitis by metagenomic next-generation sequencing: A case report
Authors: Xiujuan Che, Zhiyi He, Tao-Hsin Tung, Han Xia, Zhibao Lu
Journal: Open Life Sci (2023)
Keywords: naegleria fowleri, case report, diagnosis, metagenomic next-generation sequencing, primary amoebic meningoencephalitis
MeSH terms: Case Reports

Primary amoebic meningoencephalitis (PAM) caused by Naegleria fowleri is a fatal infection with a mortality rate of more than 95%, despite advances in antimicrobial chemotherapy and supportive care. Initial manifestations of PAM are indistinguishable from bacterial meningitis. Prompt diagnosis and antifungal treatment may help decline the overall mortality. Here we present a case of a 38-year-old man transferred to our hospital due to mild headache, which deteriorated quickly. Severe increased intracranial pressure was found. The cerebrospinal fluid (CSF) was yellowish with significantly increased leukocyte and protein. Smear and culture were negative. The patient was first diagnosed with pyogenic meningoencephalitis. However, the symptoms deteriorated. Metagenomic next-generation sequencing (mNGS) of CSF was applied and finally confirmed N. fowleri as the protist pathogen within 24 h. However, due to the time cost of sampling and transportation (2 days), the diagnosis came too late, and the patient passed away 1 day before. In summary, mNGS is a rapid and accurate diagnostic method for clinical practices, especially for rare central nervous system infections. It should be used as quickly as possible for acute infections, such as PAM. All aspects of patient interrogation and prompt identification should be paramount to ensure appropriate treatment and decline the overall mortality.
Diagnose earlier, live longer? The impact of cervical and breast cancer screening on life span
Authors: Zhenjie Yang, Juan Liu, Qing Wang
Journal: PLoS One (2022)
MeSH terms: Breast Neoplasms / diagnosis, Breast Neoplasms / epidemiology, Breast Neoplasms / prevention & control, Uterine Cervical Neoplasms / diagnosis, Uterine Cervical Neoplasms / epidemiology, Uterine Cervical Neoplasms / prevention & control, Research Support, Non-U.S. Gov't, Early Detection of Cancer / methods, Female, Humans, Longevity, Mass Screening / methods

Cancer has become a leading cause of death and aroused the cancer scare. Breast and cervical cancer are two main health threats for women. In order to reduce mortality through early detection and early treatment, cancer screening has been widely recommended and applied for breast and cervical cancer detection and prevention. However, the benefit of cancer screening has been a controversial issue for the recent decades. The Chinese government has launched a free screening program on breast and cervical cancer for women since 2009. There is lack of strong data and sufficient information, however, to examine the effect of breast and cervical cancer screening. A Difference-in-Difference model estimated by Cox proportional hazard estimation was applied to evaluate the effects of breast and cervical cancer screening using data from Nown County Cancer Registry between the year 2009 and 2013. Based on the case study in a county of central China, this study found that the screening program reduced the risk of death, but found the lion's share for the benefit has been mainly due to the cervical cancer screening rather breast cancer screening, which may be related to the difference between early detection screening and preventive screening. Our results suggest sufficient funding and better education of related cancer knowledge will be meaningful measures for the prevention and treatment of breast and cervical cancer.
Adult Patient with Synchronous Gastrointestinal Stromal Tumor and Xp11 Translocation-Associated Renal Cell Carcinoma: A Unique Case Presentation with Discussion and Review of Literature
Authors: Vanda Farahmand Torous, Albert Su, David Y Lu, Sarah M Dry
Journal: Case Rep Urol (2015)

Gastrointestinal stromal tumor (GIST) is the most common primary mesenchymal tumor of the gastrointestinal tract. This entity comprises a wide spectrum of tumors that vary from benign to overtly malignant, with the majority of these tumors harboring oncogenic mutations of the KIT receptor tyrosine kinase that can aid in diagnosis as well as in targeted therapy. Although the majority of GISTs are sporadic, there are forms that are associated with a variety of syndromes including Carney-Stratakis syndrome and neurofibromatosis type 1, as well as a subset of familial GIST syndromes that are caused by germline mutations in KIT or PDGFRA. Here, we describe an unusual case of a patient who was found to have a large abdominal GIST with an incidentally found Xp11 translocation-associated renal carcinoma. The karyotype of the renal carcinoma revealed an unbalanced rearrangement involving an (X;22) translocation at Xp11.2 and 22p11.2, which has not been reported in the literature. Although GISTs have shown an association with other primary malignant neoplasms, including simultaneous presence with unilateral clear cell renal cell carcinoma and bilateral papillary renal cell carcinomas, we describe the first reported case of synchronous GIST and Xp11 translocation-associated renal cell carcinoma.