OpenMed/multicare-articles huggingface dataset:
Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency
Authors: Laura Dotta, Donatella Vairo, Mauro Giacomelli, Daniele Moratto, Nicola Tamassia, William Vermi, Silvia Lonardi, Jean-Laurent Casanova, Jacinta Bustamante, Silvia Giliani, Raffaele Badolato
Journal: Front Immunol (2020)
Keywords: ifnγ, msmd, dendritic cells deficiency, mycobacteria, partial ifnγr1 deficiency
MeSH terms: Dendritic Cells / immunology, Mycobacterium avium-intracellulare Infection / immunology, Primary Immunodeficiency Diseases / immunology, Receptors, Interferon / deficiency, Case Reports, Research Support, Non-U.S. Gov't, Child, Preschool, Female, Genetic Predisposition to Disease / genetics, Humans, Mutation, Primary Immunodeficiency Diseases / genetics, Receptors, Interferon / genetics, Receptors, Interferon, interferon gamma receptor

Interferon-γ receptor 1 (IFNγR1) deficiency is one of the inborn errors of IFN-γ immunity underlying Mendelian Susceptibility to Mycobacterial Disease (MSMD). This molecular circuit plays a crucial role in regulating the interaction between dendritic cells (DCs) and T lymphocytes, thus affecting DCs activation, maturation, and priming of T cells involved in the immune response against intracellular pathogens. We studied a girl who developed at the age of 2.5 years a Mycobacterium avium infection characterized by disseminated necrotizing granulomatous lymphadenitis, and we compared her findings with other patients with the same genetic condition. The patient carried a heterozygous 818del4 mutation in the IFNGR1 gene responsible of autosomal dominant (AD) partial IFNγR1 deficiency. During the acute infection blood cells immunophenotyping showed a marked reduction in DCs counts, including both myeloid (mDCs) and plasmacytoid (pDCs) subsets, that reversed after successful prolonged antimicrobial therapy. Histology of her abdomen lymph node revealed a profound depletion of tissue pDCs, as compared to other age-matched granulomatous lymphadenitis of mycobacterial origin. Circulating DCs depletion was also observed in another patient with AD partial IFNγR1 deficiency during mycobacterial infection. To conclude, AD partial IFNγR1 deficiency can be associated with a transient decrease in both circulating and tissular DCs during acute mycobacterial infection, suggesting that DCs counts monitoring might constitute a useful marker of treatment response.
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
Authors: Laurie H Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang
Journal: PLoS One (2011)
MeSH terms: 3-Hydroxyacyl CoA Dehydrogenases / genetics, Athetosis / complications, Chorea / complications, Epilepsy / complications, Epilepsy / genetics, Learning Disabilities / complications, Mutation / genetics, Case Reports, Research Support, Non-U.S. Gov't, 3-Hydroxyacyl CoA Dehydrogenases / chemistry, Adult, Amino Acid Sequence, Athetosis / enzymology, Athetosis / genetics, Athetosis / urine, Base Sequence, Carboxylic Acids / urine, Child, Child, Preschool, Chorea / enzymology, Chorea / genetics, Chorea / urine, DNA Mutational Analysis, Electroencephalography, Electron Transport, Epilepsy / enzymology, Epilepsy / urine, Female, Fibroblasts / enzymology, Humans, Infant, Newborn, Learning Disabilities / enzymology, Learning Disabilities / genetics, Learning Disabilities / urine, Male, Metabolic Networks and Pathways, Mitochondria / enzymology, Molecular Sequence Data, Polymorphism, Restriction Fragment Length, Pregnancy, Carboxylic Acids, 3-Hydroxyacyl CoA Dehydrogenases, HSD17B10 protein, human

Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mutations in this gene result in HSD10 deficiency, whereas a silent mutation results in mental retardation, X-linked, syndromic 10 (MRXS10). Here we report a novel missense mutation found in the HSD17B10 gene, namely c.194T>C transition (rs104886492), brought about by the loss of two forked methyl groups of valine 65 in the HSD10 active site. The affected boy, who possesses mutant HSD10 (p.V65A), has a neurological syndrome with metabolic derangements, choreoathetosis, refractory epilepsy and learning disability. He has no history of acute decompensation or metabolic acidosis whereas his urine organic acid profile, showing elevated levels of 2-methyl-3-hydroxybutyrate and tiglylglycine, is characteristic of HSD10 deficiency. His HSD10 activity was much lower than the normal control level, with normal β-ketothiolase activity. The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier. The patient's mother is an asymptomatic carrier, and has a mixed ancestry (Hawaiian, Japanese and Chinese). This demonstrates that HSD10 deficiency patients are not confined to a particular ethnicity although previously reported cases were either Spanish or German descendants.
Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder
Authors: Dongyan Cui, Songmi Wang, Ai Zhang, Aiguo Liu, Qun Hu
Journal: Front Genet (2022)
Keywords: cdk13-related disorder, hlh hemophagocytic lymphohistiocytosis, acute lymphobastic leukemia, children, craniofacial dysmorphic features
MeSH terms: Case Reports

Cardinal features of CDK13-related disorders are characterized by intellectual disability, developmental delay, dysmorphic facial features, structural heart defect and structural brain abnormality. A 9-year-old boy presented with intellectual disability, development delay, characteristic craniofacial features, brain malformation, cryptorchidism, autism spectrum disorder, and recently, recurrent hemophagocytic lymphohistiocytosis (HLH) in a half year period. Further investigation revealed the diagnosis of CDK13-related disorder. Finally, we found the underlying cause of HLH is acute lymphoblastic leukemia. Probably leukemia was a coincidental finding in this boy with CDK13-related disorder, but the case herein suggests that individuals with CDK13-related disorder also face risk of developing cancers. Further detailed information could enable us to clarify this presentation because of only limited investigation in affected cases.
Polyarthritis caused by methimazole in two Japanese patients with graves' disease
Authors: Hiroko Nihei, Hidenori Tada, Yuki Naruse, Masako Izawa, Manji Kato, Hiroaki Okuno, Akie Nakamura, Katsura Ishizu, Takashi Hamajima, Toshihiro Tajima
Journal: J Clin Res Pediatr Endocrinol (2013)
MeSH terms: Antithyroid Agents / adverse effects, Arthritis / chemically induced, Graves Disease / drug therapy, Methimazole / adverse effects, Case Reports, Adolescent, Child, Female, Humans, Antithyroid Agents, Methimazole

In many countries, methimazole (MMI) therapy is the first-line treatment in children with Graves' disease (GD). The rate of side effects of antithyroid drugs (ATDs) in children has been reported to range between 6% and 35%. Of these side effects, polyarthritis is uncommon but serious, and can also develop as a part of the antineutrophil cytoplasmic antibody-associated vasculitis that is induced by ATDs. Here, we describe two GD girl patients aged 15 years and 11 years who developed polyarthritis. The onset of polyarthritis in these patients was 24 days and 28 days after the initiation of MMI therapy, respectively. MMI was suspected of causing the polyarthritis in the two patients and was withdrawn. The symptoms of polyarthritis disappeared rapidly following cessation of treatment. Subsequently, one patient was treated with 131I therapy and the other patient was subjected to thyroidectomy. Although it rarely occurs in pediatric GD patients, severe polyarthritis is a serious side effect of MMI and is an indication for prompt cessation of treatment.
Do Not Huff, Puff, or Vape That Stuff: Interstitial Airspace Disease in a Teenager
Authors: Amee A Amin, Erica Haught, Youmna Mousattat
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

A 17-year-old previously healthy male was admitted to the hospital for intractable and persistent vomiting, fever, cough, abdominal pain, and intermittent diarrhea and dehydration. He presented with severe chest pain and O2 desaturations up to 80% on room air. An infectious (including a nasopharyngeal swab), GI, and cardiac workup was completed and was negative except for elevated inflammatory markers with a C-reactive protein (CRP) level of 261 mg/L, erythrocyte sedimentation rate (ESR) of 53 mm/hr, and a D-dimer level of 0.93 mcg/ml. Chest X-ray showed diffuse multifocal infiltrates. The patient was treated with ceftriaxone and azithromycin initially for a suspected pneumonia. He was also started on 4L of nasal cannula O2 supplementation. Due to persistent hypoxic respiratory failure, worsening respiratory distress clinically, with tachypnea and retractions, and lab findings of elevated D-dimer, a chest CT was performed to rule out a pulmonary embolism (PE). Computed tomography (CT) findings were negative for PE but notable for diffuse airspace opacities, primarily within the lower lobes, with a ground-glass appearance concerning for ARDS. Upon further investigation of the social history, the patient admitted to vaping nicotine products for the past 4 years and tetrahydrocannabinol (THC) products within the last several months. He was immediately started on prednisone 30 mg BID for a diagnosis of e-cigarette or vaping product use-associated lung injury (EVALI) and started showing clinical improvement. The patient was able to be weaned off of supplemental oxygen to room air, and clinical symptoms of respiratory distress began to improve over the next 24 hours.
Recurrent Upper Extremity Thrombosis Associated with Overactivity: A Case of Delayed Diagnosis of Paget-Schroetter Syndrome
Authors: Himani Sharma, Abhinav Tiwari
Journal: Case Rep Vasc Med (2017)
MeSH terms: Case Reports

Paget-Schroetter syndrome is thrombosis of the axillary-subclavian vein that is associated with strenuous and repetitive activity of the upper extremities. Overuse of the arm coupled with external compression results in microtrauma in the intima of the subclavian vein, resulting in the activation of the coagulation cascade. Diagnosis is usually made by Doppler ultrasound and the treatment involves thrombolysis, while routine surgical decompression of the thoracic outlet is controversial. In this report, we present a case of a patient who presented with a second episode of spontaneous right upper extremity deep venous thrombosis. The first episode was inadequately treated with oral anticoagulation alone. During the second episode, Paget-Schroetter syndrome was diagnosed, after careful review of his occupational history. He subsequently underwent angioplasty and decompression of thoracic outlet with no recurrence of thrombosis in a 12-month follow-up period.
Acute Septic Arthritis of the Knee Caused by Kingella kingae in a 5-Year-Old Cameroonian Boy
Authors: Nawal El Houmami, Dimitri Ceroni, Karine Codjo Seignon, Jean-Christophe Pons, Cédric Lambert, Guillaume André Durand, Philippe Minodier, Léopold Lamah, Philippe Bidet, Jacques Schrenzel, Didier Raoult, Pierre-Edouard Fournier
Journal: Front Pediatr (2017)
Keywords: africa south of the sahara, kingella kingae, arthritis, infectious, multilocus sequence typing, pediatrics
MeSH terms: Case Reports

Kingella kingae is an important cause of invasive infections in young children from Western countries. Although increasing reports indicate that this organism is the leading agent of bone and joint infections in early childhood, data on K. kingae infections from resource-limited settings are scarce, and none has yet been reported in Africa. We herein report the diagnostic and epidemiological investigations of the first case of K. kingae arthritis identified in a child from sub-Saharan Africa. A 5-year-old Cameroonian boy presented with a sudden painful limp which appeared in the course of a mild rhinopharyngitis. He lived in Cameroon where he had been vaccinated with BCG at birth and moved to France for holidays 4 days before consultation. There was no history of trauma and he did not have any underlying medical condition. Upon admission, he had a temperature of 36.7°C, and clinical examination revealed right-sided knee tenderness and effusion that was confirmed by ultrasound imaging. Laboratory results showed a white blood cell count of 5,700 cells/mm3, C-reactive protein level of 174 mg/L, and platelet count of 495,000 cells/mm3. He underwent an arthrocentesis and was immediately given intravenous amoxicillin-clavulanate. Conventional cultures from blood samples and synovial fluids were negative. Polymerase chain reaction (PCR) assay targeting the broad-range 16S rRNA gene and real-time quantitative PCR assays targeting Mycobacterium species were negative. Surprisingly, real-time PCR assays targeting the cpn60, rtxA, and rtxB genes of K. kingae were positive. Multicolor fluorescence in situ hybridization specific for K. kingae identified the presence of numerous coccobacilli located within the synovial fluid. Finally, multilocus sequence typing analysis performed on deoxyribonucleic acid directly extracted from joint fluid disclosed a novel K. kingae sequence-type complex. This case report demonstrates that K. kingae may be considered as a potential cause of septic arthritis in children living in sub-Saharan Africa, and hence the burden of K. kingae infection may be not limited to the Western countries. Further studies are required to determine the prevalence of K. kingae infection and carriage in Africa.
Epididymal leiomyosarcoma: one case report
Authors: Mohammed Fadl Tazi, Ahmed Amine Bouchikhi, Youness Ahallal, Soufiane Mellas, Jalaleddine Elammari, Abdelhak Khallouk, Mohammed Jamal Elfassi, Moulay Hassan Farih
Journal: Case Rep Urol (2012)
MeSH terms: Case Reports

Epididymal leiomyosarcoma is very uncommon. Only 16 cases have been reported in the literature. There has never been a reported case of a patient with an African origin with this tumor. We report the medical history of a 70-year-old man who presented an enormous mass located in his epididymis. A tricut biopsy was performed which allowed histological confirmation of epididymal leiomyosarcoma after which the patient underwent excision of the mass. The patient died after the first round of chemotherapy.
Primary Kaposi's sarcoma of the nasal cavity: a case report and review of the literature
Authors: Karima Mouden, Mouna Khmou, Saida Loughmari, Afaf Semmar, Hanan El Kacemi, Basma El Khannoussi, Tayeb Kebdani, Sanaa Elmajjaoui, Noureddine Benjaafar
Journal: Clin Sarcoma Res (2016)
Keywords: adequate immune system, chemotherapy, kaposi sarcoma, nasal cavity
MeSH terms: Case Reports

Background:
Kaposi sarcoma is a neoplastic vascular disorder. It usually present on the skin of the upper and lower extremities, rarely in the mucosa of the head and neck. The most common sites reported are within the oral cavity, particularly on the palate. Other mucosal sites are rare. We present an unusual case where the primary manifestation of the Kaposi's sarcoma was in the nasal mucosa.
Case presentation:
A 56-year-old female of Mediterranean descent presented with a 1 year history of swelling on the left side of her nose, nasal obstruction and occasional minor epistaxes. Physical examination showed a firm and bulging polypoid mass which filled the left nasal cavity without cutaneous lesions. Computed tomography (CT) demonstrated a tumor, measuring 77 mm in diameter, occupying the left nasal cavity causing erosion of nasal septum and extending posteriorly to the left choana and nasopharynx. There was bilateral cervical lymphadenopathy. Patient treated with chemotherapy alone. She was in a complete response after the first cycle. The patient received no further treatment. She needs a regular medical checkups that include a review of a patient's medical history and a complete physical exam. She is in excellent local control over 12 months.
Conclusions:
A review of the literature revealed that only seven cases of primary Kaposi sarcoma of the nasal cavity have previously been published and only two of them presented in a patient not associated with the acquired immunodeficiency syndrome. Here, we report the third case where the primary manifestation of the Kaposi sarcoma was in the nasal cavity in a patient with an adequate immune system.
Intraosseous Cavernous Hemangioma in the Mandible: A Case Report
Authors: Bilgir Elif, Yildirim Derya, Kocer Gulperi, Bozova Sevgi
Journal: J Clin Exp Dent (2017)
MeSH terms: Case Reports

Intraosseous vascular lesions are rare conditions. They are most commonly seen in the vertebral column and skull; nevertheless, the mandible is a quite rare location. In this report, we present a case of intraosseous cavernous hemangioma in the mandible and discuss the clinical and radiological features. A 28-year-old male patient attended to our clinic with a complaint of painless swelling of mandible. Clinical evaluation revealed a bone-hard, smooth-surfaced, immobile mass in the left mandibular lingual area. The patient was evaluated with panoramic and occlusal radiography and computed tomography. The lesion surgically excised and pathological examination revealed an intraosseous cavernous hemangioma. Follow-up imaging 1 year later with cone beam computed tomography revealed recurrence of the lesion. The conclusion of this paper; when a bone hard, well-shaped mass was seen in the mandible, the possibility of intraosseous hemangioma must be remembered and before surgical procedure detailed radiographic evaluation should be performed. Key words:Hemangioma, intraosseous, mandible, cavernous, cbct.
An Unusual Inverted Talar Neck Fracture-Dislocation
Authors: Brent Kokubun, Motasem Refaat
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Talar neck fractures occur on a continuum of injury severity. Hawkins classification, later modified by Canale, is the gold standard method of describing talar neck fractures by the degree of dislocation. It has proven to be clinically relevant in predicting risk of osteonecrosis. Despite its merits, talar neck fractures present on a wide spectrum of involvement of the body and neck, dislocation, and concomitant injuries, making every situation a challenge in treatment. We present a unique case of a talar neck fracture in which the talar dome had dislocated and inverted 180°, which is not described in the widely used Hawkins classification. We recommend urgent open reduction, low threshold for use of a transcalcaneal traction pin and dual incisions, and guarded prognosis of osteonecrosis and posttraumatic arthritis.
Hepatocellular Carcinoma Metastasis to the Orbit in a Coinfected HIV+ HBV+ Patient Previously Treated with Orthotopic Liver Transplantation: A Case Report
Authors: S Guerriero, G Infante, E Giancipoli, S Cocchi, M G Fiore, D Piscitelli, N Cardascia
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

Hepatocellular carcinoma rarely metastasizes to the orbit. We report a 45-year-old male, HBV+, HIV+, with a past history of a liver transplant for ELSD (end-stage liver disease) with hepatocellular carcinoma and recurrent HCC, who presented with proptosis and diplopia of the left eye. CT scans of the head revealed a large, irregular mass in the left orbit causing superior and lateral destruction of the orbital bone. Biopsy specimens of the orbital tumor showed features of metastatic foci of hepatocellular carcinoma. Only 16 other cases of HCC metastasis to the orbit have been described in literature, and this is the first case in a previously transplanted HIV+, HBV+ patient.
Splenic marginal zone lymphoma treated with laparoscopic splenectomy: A case report
Authors: Ryota Koyama, Nozomi Minagawa, Yoshiaki Maeda, Toshiki Shinohara, Tomonori Hamada
Journal: Int J Surg Case Rep (2019)
Keywords: laparoscopic splenectomy, malignant lymphoma, splenic marginal zone lymphoma

Introduction:
Splenic marginal zone lymphoma (SMZL) is rare subtype of malignant lymphoma that is classified as a low-grade B cell lymphoma. Splenectomy is usually chosen for both diagnosis and treatment, which often leads to the resolution of abdominal symptoms and cytopenia.
Case presentation:
We presented the case of a 73-year-old woman who complained of spontaneous perspiration and fatigue. She was referred to our hospital for further treatment of enlarged intraabdominal lymph nodes and splenomegaly. The level of soluble Interleukin-2 receptor was elevated, and malignant lymphoma was suspected. Endoscopic ultrasound fine-needle biopsy of intraabdominal lymph node revealed B cell lymphoma. For a definitive diagnosis, as well as treatment, laparoscopic splenectomy was successfully performed. The histopathological finding was compatible with SMZL. The patient was discharged without any complications and observed to have no recurrence at eight months postoperatively.
Conclusion:
Patients with SMZL is usually expected to have good prognosis with splenectomy. However, careful follow-up is required for aggressive transformation can occur and result in worse prognosis.
Bilateral Lumbar Facet Synovial Cysts as a Cause of Radiculopathy
Authors: Pawin Kasempipatchai, Verapan Kuansongtham, Monchai Ruangchainikom, Khin Myat Myat Lwin
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Remarkable advancements in endoscopic spinal surgery have led to successful outcomes comparable to those of conventional open surgery with the benefits of less traumatization and postoperative spinal instability. Bilateral lumbar facet cysts are rarely found in the spinal canal. We report a rare case of L4-L5 bilateral lumbar facet cysts compressing the nerve root in a patient who presented with L5 radiculopathy. Endoscopic decompression and removal of the cysts without fusion were performed. Histopathology revealed synovial cysts. Postoperatively, the patient showed a total resolution of symptoms with sustained benefits at the final evaluation. No recurrence of pain and no further segmental instability were observed at the 1-year follow-up.