OpenMed/multicare-articles huggingface dataset:
Complete response of mediastinal clear cell sarcoma to pembrolizumab with radiotherapy
Authors: Samuel Marcrom, Jennifer F De Los Santos, Robert M Conry
Journal: Clin Sarcoma Res (2017)
Keywords: anti-pd1, clear cell sarcoma, immune checkpoint blockade, melanoma, pembrolizumab, radiotherapy
MeSH terms: Case Reports

Background:
Clear cell sarcoma (CCS) is a rare, aggressive soft tissue sarcoma thought to derive from neural crest and characterized by a 12;22 translocation. The resulting fusion protein directly activates expression of the melanocyte master transcription factor and drives the same down-stream pathways in CCS and melanoma leading to significant clinical parallels between these malignancies. Striking success of immune checkpoint blockade in melanoma has promoted interest in immunotherapy of CCS.
Case presentation:
We report the first complete clinical response of a bulky chest wall recurrence of mediastinal CCS in a young woman to anti-PD1 checkpoint blockade with pembrolizumab combined with standard fractionation radiotherapy to enhance regional control and potentially boost the systemic immune response. The treatment was well tolerated with grade 2 skin toxicity within the range expected with radiation alone. Significant reduction in tumor bulk occurred after only 2 radiation fractions and complete response was achieved at 50 Gray.
Conclusion:
The complete clinical response observed in our patient suggests synergy between concurrent radiotherapy and PD1 blockade in CCS. This case and the striking parallels between CCS and melanoma indicate the need for prospective trials of immune checkpoint blockade combined with radiotherapy in this rare malignancy.
Metastasis of Renal Cell Carcinoma Causing Significant Facial Asymmetry
Authors: Rafael Netto, Silas Antonio Juvencio de Freitas Filho, Wladimir Cortezzi, Flávio Merly, Vitor Marcello de Andrade, Fábio Ramôa Pires
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

The occurrence of metastatic tumors in the orofacial region is rare and may represent the first clinical manifestation of occult malignant disease. An orofacial lesion diagnosed as a metastatic tumor from a renal cell carcinoma in a 68-year-old man is reported. This metastatic tumor caused significant facial asymmetry involving the parotid gland and mandible regions, and the patient died four months after diagnosis. Here, we discuss the clinical aspects, the diagnostic approach, and the importance of early diagnosis to obtain a better response to treatment and provide longer survival time.
Twelve-year outcomes of bedside laser photocoagulation for severe retinopathy of prematurity
Authors: Bingzhi Yang, Chaohui Lian, Ruyin Tian, Yi Chen, Song Tang, Haishan Xiang, Honghui He, Guoming Zhang
Journal: Front Pediatr (2023)
Keywords: anesthesia, bedside, laser photocoagulation, low birth weight, neonatal intensive care unit, premature, retinopathy of prematurity (rop), sedation

Purpose:
The purpose of this study is to evaluate the 12-year outcomes of bedside laser photocoagulation (LP) for severe retinopathy of prematurity (ROP) under sedation combined with ocular surface anesthesia in neonatal intensive care units (NICU).
Design:
The study is a retrospective case series.
Methods:
Infants treated with bedside LP for severe ROP from April 2009 to September 2021 were included. All LP treatments were performed under sedation and surface anesthesia at the bedside in NICU. Data were recorded for clinical and demographic characteristics, total laser spots, duration of treatment, proportion of total regression of ROP, proportion of recurrence, and adverse events.
Results:
A total of 364 infants (715 eyes) were included, with a mean gestational age of 28.6 ± 2.4 weeks (range: 22.6-36.6 weeks) and a mean birth weight of 1,156.0 ± 339.0 g (range: 480-2,200 g). The mean number of laser spots was 832 ± 469, and the mean duration of treatment was 23.5 ± 5.3 min per eye. Of all the eyes, 98.3% responded to LP with complete regression of ROP. ROP recurred in 15 (2.1%) eyes after the initial LP. Additional LP was performed in seven (1.0%) eyes. No patient exhibited mistaken LP of other ocular tissues, and there were no serious ocular adverse effects. None of them needed endotracheal intubation.
Conclusions:
Bedside LP treatment is effective and safe for premature infants with severe ROP under sedation and surface anesthesia in NICU, especially for infants whose general condition is unstable and not suitable for transport.
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome
Authors: Jessica Garau, Silvia Masnada, Francesca Dragoni, Daisy Sproviero, Federico Fogolari, Stella Gagliardi, Giana Izzo, Costanza Varesio, Simona Orcesi, Pierangelo Veggiotti, Gian Vincenzo Zuccotti, Orietta Pansarasa, Davide Tonduti, Cristina Cereda
Journal: Front Immunol (2021)
Keywords: aicardi–goutières syndrome, rnaseh2b, genetics, next generation sequencing, novel mutation
MeSH terms: Autoimmune Diseases of the Nervous System / genetics, Nervous System Malformations / genetics, Ribonuclease H / genetics, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Humans, Infant, Male, Mutation, ribonuclease HII, Ribonuclease H, Aicardi-Goutieres syndrome

Aicardi-Goutières Syndrome (AGS) is a rare disorder characterized by neurological and immunological signs. In this study we have described a child with a phenotype consistent with AGS carrying a novel compound heterozygous mutation in RNASEH2B gene. Next Generation Sequencing revealed two heterozygous variants in RNASEH2B gene. We also highlighted a reduction of RNase H2B transcript and protein levels in all the family members. Lower protein levels of RNase H2A have been observed in all the members of the family as well, whereas a deep depletion of RNase H2C has only been identified in the affected child. The structural analysis showed that both mutations remove many intramolecular contacts, possibly introducing conformational rearrangements with a decrease of the stability of RNase H2B and strongly destabilizing the RNase H2 complex. Taken together, these results highlight the importance of an integrated diagnostic approach which takes into consideration clinical, genetic, and molecular analyses.
Chlorpheniramine Maleate Throat Spray for the Treatment of COVID-19-Induced Acute Viral Pharyngitis: Case Series
Authors: Mari L Tesch, Rahul Dasgupta, Uzzam Ahmed Khawaja, Marcos Sanchez-Gonzalez, Rahaghi Franck
Journal: Cureus (2023)
Keywords: acute viral pharyngitis, chlorpheniramine maleate, infectious disease, sars-cov-2, visual analog scale
MeSH terms: Case Reports

Acute viral pharyngitis (AVP) is a common respiratory illness affecting many individuals. Despite symptomatic treatment management of AVP, therapies are lacking to target a broad spectrum of viruses and the inflammatory nature of the disease. Available for many years, Chlorpheniramine Maleate (CPM), is considered a low-cost and safe first-generation antihistamine displaying antiallergic, anti-inflammatory, and as of recently, identified as a broad-spectrum antiviral agent with activity against influenzas A/B viruses and SARS-CoV-2. Efforts have been made to identify repurposed drugs with favorable safety profiles that could significantly benefit the treatment of COVID-19-induced symptoms. The present case series highlights three patients in which a CPM-based throat spray was used to alleviate the symptoms of COVID-19-induced AVP. The CPM throat spray was associated with significant improvements in patient symptoms after approximately three days of use as opposed to the typical five to seven days reported elsewhere. While AVP is a self-limited syndrome and usually improves without pharmaceutical therapy, CPM throat spray may significantly reduce the overall time that the patient has symptoms. Additional clinical studies to evaluate the efficacy of CPM for the treatment of COVID-19-induced AVP are warranted.
Pediatric autoimmune hepatitis in a patient who presented with erythema nodosum: a case report
Authors: Zohreh Kavehmanesh, Fatemeh Beiraghdar, Amin Saburi, Ali Hajihashemi, Susan Amirsalari, Morteza Movahed
Journal: Hepat Mon (2012)
Keywords: autoimmune, erythema nodosum, hepatitis, pediatrics
MeSH terms: Case Reports

Background:
Autoimmune hepatitis (AIH) is a form of chronic hepatitis with unclear causative factors and is characterized by immunological and auto-immunological manifestations. Several extrahepatic manifestations, such as other autoimmune disorders, are associated with AIH. AIH with dermatological conditions as the initial manifestation is rare. We report the case of AIH in which erythema nodosum (EN) was the first manifestation.
Case presentation:
An 8-year-old girl with several persistent dermatological lesions was referred to our hospital several months ago. Her skin had nodular, painful, dry, and erythematous lesions, predominantly on the extensor areas of both the legs, with some erythematous patches on her face. Physical examination revealed that she had hepatosplenomegaly as well. Skin biopsy indicated EN. The results of the laboratory tests showed increased levels of several liver enzymes. The patient's International Autoimmune Hepatitis Group (IAIHG) score was a definite indicator of AIH. The results of liver biopsy indicated AIH. Other causes of EN and abnormal liver function were ruled out. The only obvious cause of skin lesions was chronic inflammation due to an autoimmune response. The patient was treated for AIH, and her skin lesions along with other signs and symptoms resolved.
Conclusions:
AIH can present with protean clinical manifestations, and is thus associated with the risk of delayed diagnosis. Dermatological manifestations, including EN, could indicate a serious disease, and further investigation might be required. AIH should be considered as the possible diagnosis in such cases.
Intra-arterial vasodilators infusion for management of reversible cerebral vasoconstriction syndrome in a 12-year-old girl: A case report
Authors: Frida Rizzati, Guillaume Marie, Vivianne Chanez, Thomas Ferry, Julia Natterer, David Longchamp, Guillaume Saliou, Maria-Helena Perez
Journal: Front Pediatr (2023)
Keywords: case report, children, headache, pediatric intensive care unit, reversible cerebral vasoconstriction syndrome, vessel wall mri
MeSH terms: Case Reports

Reversible cerebral vasoconstriction syndrome (RCVS) is a vascular disease characterized by diffuse transient vasoconstriction and vasodilatation of the cerebral arteries. It is commonly associated with recurrent severe acute headaches with or without focal neurological deficits due to hemorrhages, infarcts, and even posterior reversible encephalopathy syndrome. The optimal management of acute neurologic deficits caused by RCVS is still uncertain. Calcium channel blockers (CCBs) such as nimodipine or verapamil have been reported to be effective in adult series. Intra-arterial injection of nimodipine, verapamil, and milrinone has recently been demonstrated to be safe and effective for treating severe segmental vasoconstriction in adults. CCBs are the most used treatment in the available pediatric literature. Intra-arterial vasodilators have been reported in some rare pediatric reports with more severe diseases, but their utility is still under investigation. We report a case of a 12-year-old girl who underwent a severe course of RCVS complicated by multiple cerebral infarcts, treated by several sessions of intra-arterial vasodilators infusion.
Mosaic and partial monosomy of chromosome 21 in a case with low platelets count
Authors: A Hashemi, Mh Sheikhha, Ma Manouchehri, Sm Kalantar
Journal: Iran J Ped Hematol Oncol (2014)
Keywords: chromosome 21, congenital anomalies, partial monosomy, platelets
MeSH terms: Case Reports

Background:
Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions.
Case report:
In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Hospital,Yazd, Iran, due to multiple congenital anomalies such as: frontal bossing, horizontal palpebral fissure, small deepest eyes, aplastic nasal bridge, broad philtrum, low set ears, large prominent ears, short neck, microcephaly, pectus excavatum, mental retardation, and dislocation of the hip. In peripheral blood smear, platelets were decreased but other hematological levels were normal. The karyotype result indicated a mosaic monosomy and partial monosomy of chromosome 21.
Conclusion:
According to this and other case reports of monosomy of chromosome 21, this disease had very low prevalence rate among live infants or children. The present case had some congenital anomalies that present with abnormal medical condition. Therefore these patients must be evaluated for chromosomal studies.
Isolated Hypoglossal Nerve Palsy Secondary to Oligosecretory Multiple Myeloma
Authors: Bahaar K Muhar, Shawn Cho, Ashwin S Sidhu, Jason Chang, Forshing Lui
Journal: Cureus (2023)
Keywords: free light chains, hypoglossal nerve, lytic bone lesion, multiple myeloma, oligosecretory
MeSH terms: Case Reports

Isolated hypoglossal nerve (CN XII) palsy is rare. Neurological complications of multiple myeloma (MM) are quite common, most often due to hyperviscosity and paraprotein-related neuropathy. Direct compression of CN XII can be caused by plasmacytoma, yet direct invasion by MM is extremely rare. We are reporting a very unusual case of a 45-year-old man who presented with an isolated right CN XII palsy. The cause revealed by MRI is stenosis of the hypoglossal canal resulting from lytic bony erosion. Despite negative serum and urine protein electrophoresis tests, the final diagnosis of oligosecretory MM was confirmed by serum-free light chain test and bone marrow biopsy. The causes and diagnosis of isolated XII nerve palsy and oligosecretory MM are discussed.
Non-Hodgkin's Lymphoma of the Middle Ear Presenting as Mastoiditis
Authors: Marwan Alqunaee, Abdullah Aldaihani, Mohammed AlHajery
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Lymphoma originating from the middle ear is rare. The diagnosis of lymphoma as with other cancers of the temporal bone is often made late, and this has a negative implication on the treatment and prognosis of the condition. The delay of diagnosis is mainly due to the similar presentation shared with other benign conditions of the middle ear. We present a case of a 62-year-old man who was treated as a case of chronic otitis media for a period of time before presenting with advanced symptoms; a final diagnosis of lymphoma of the middle ear was given. Other similar cases in the literature are discussed and reviewed. Severe and persistent symptoms of the middle ear should raise red flags and warrant detailed investigations.
Case report: Mild encephalitis with a reversible splenial lesion associated with SARS-CoV-2 infection in a patient with MYRF variant
Authors: Mizuho Saito, Tomoyuki Nakazawa, Shun Toriumi, Michihiko Takasu, Hiromi Yagisawa, Yayoi Murano, Nao Miyazaki, Hirokazu Kurahashi, Akihisa Okumura, Toshiaki Shimizu
Journal: Front Pediatr (2022)
Keywords: covid-19, myrf, sars-cov-2, mild encephalitis with a reversible splenial lesion (mers), myelin
MeSH terms: Case Reports

We report a 14-year-old girl with a heterozygous p. Gln403Arg variant in the MYRF gene, who had five episodes of encephalopathy. She experienced reduced consciousness, numbness in the arm, and impaired verbal communication from day 4 of SARS-CoV-2 infection. Magnetic resonance imaging of her head showed reduced water diffusion in the corpus callosum and deep white matter. These features were similar to those seen in her previous episodes of encephalopathy. She was treated with methylprednisolone pulse therapy and recovered completely within a week.
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
Authors: Michio Inoue, Aritoshi Iida, Shinichiro Hayashi, Madoka Mori-Yoshimura, Atsushi Nagaoka, Shunsuke Yoshimura, Hirokazu Shiraishi, Akira Tsujino, Yuji Takahashi, Ikuya Nonaka, Yukiko K Hayashi, Satoru Noguchi, Ichizo Nishino
Journal: Hum Genome Var (2018)
MeSH terms: Case Reports

VCP mutations were first associated with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease. Now, a new name, "multisystem proteinopathy (MSP)", is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP: c.259G>T (p.Val87Phe) and c.376A>G (p.Ile126Val).
Intradural Extramedullary Spinal Sarcoidosis Mimicking Meningioma
Authors: Sho Ishiwata, Yoichi Iizuka, Tokue Mieda, Junko Hirato, Hiromi Koshi, Yohei Kakuta, Akira Honda, Hiroyuki Sonoda, Tsuyoshi Tajika, Hirotaka Chikuda
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Background:
Spinal sarcoidosis is a rare subgroup of neurosarcoidosis. Although most sarcoid lesions develop in the intramedullary compartment, intradural extramedullary (IDEM) spinal sarcoidosis is an extremely rare entity.
Case presentation:
We herein report a case of IDEM spinal sarcoidosis mimicking a meningioma. A 32-year-old man presented to the hospital with clumsy hands and was unable to walk without assistance. Magnetic resonance imaging (MRI) of the cervical spine revealed a dural tail sign that is common in meningiomas. The patient underwent gross total resection. The pathological findings consisted with a sarcoid leision of the spinal cord. The patient's myelopathy recovered after surgery.
Conclusions:
Physicians should be alert for the possibility of IDEM sarcoidosis mimicking a meningioma in the differential diagnosis of IDEM spinal cord tumors.
A new technique for surgical treatment of vaginal agenesis using combined abdominal-perineal approach
Authors: Mehmet Sinan Beksac, Mehmet Coskun Salman, Nasuh Utku Dogan
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Optimum therapeutic approach in vaginal agenesis has always been an area of extensive controversies. Although surgical management gained priority due to the evolution of techniques, there is currently no consensus in the literature regarding the best type of surgical approach. The most commonly preferred surgical procedure among gynecologists is McIndoe operation which involves the creation of a space between bladder and rectum, insertion of a mold covered with split-thickness skin graft into that neovaginal space, and use of postoperative vaginal dilation to avoid stenosis. However, many modifications have been introduced in time in an attempt to increase the success rates. In this paper, we describe two cases with vaginal agenesis with functioning uterus who were subjected to surgery by combined abdominal-perineal approach. The surgical technique also included the use of a specially designed vaginal mold made up of polymethyl methacrylate and use of Hyalobarrier gel which is an adhesion-preventing agent.
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine
Authors: Rashail Faraon, Mahmoud Daraghmah, Fekri Samarah, Mahmoud A Srour
Journal: BMC Hematol (2019)
Keywords: palestine, xmni polymorphism, α-thalassemia, β-thalassemia intermedia

Background:
We aimed to investigate the molecular basis of β-Thalassemia intermedia (TI) in the West Bank region and its management practices.
Methods:
This was a case series multi-center study and included 51 cases of TI. DNA sequencing was used to analyze β-globin gene mutations. Common α-globin gene mutations were screened by Gap-PCR (-α3.7, -α4.2, --MED, αααanti3.7) or DNA sequencing (α2-IVS II 5 nt del). XmnI -158 C > T polymorphisms of Gγ-globin gene was determined by RFLP-PCR.
Results:
Seven β-globin gene mutations were observed, namely IVS-I -6 C > T, IVS-I-110 G > A, IVS-II-1 G > A, IVS-I-1 G > A, Codon 37 Trp > Stop, beta - 101 and IVS-II-848 C > A. Ten genotypes were observed. Homozygosity for IVS-I-6 accounted for the majority of TI cases with a frequency of 74.5%. The second common β-globin gene genotype was homozygote IVS-I-110 G > A (5.8%) and homozygote IVS-II-1 G > A (5.8%). The remaining seven genotypes were each detected in about 2% of patients. α-Thalassemia mutations were seen in five patients (9.8%), and included (-α3.7, αααanti3.7 and α2-IVSII-5 nt del). XmnI polymorphism was observed in four patients (7.8%), three homozygotes and one heterozygote.
Conclusions:
Homozygosity for the mild β-globin gene IVS-I-6 allele was the major contributing factor for the TI phenotype among the study subjects. The role of XmnI SNP and α-thalassemia mutations in ameliorating the TI phenotype was observed in few patients for each factor. The beta - 101 C > T mutation was diagnosed in one patient in homozygote state for the first time in Palestine.
Case report: Infantile generalized pustular psoriasis with IL36RN and CARD14 gene mutations
Authors: Xinyun Tong, Yang Li, Xianfa Tang, Yantao Ding, Yao Sun, Liyun Zheng, Yulong Pan, Shengxiu Liu
Journal: Front Genet (2023)
Keywords: ap1s1, card14, il36rn, biological agents, gene mutation, infantile pustular psoriasis
MeSH terms: Case Reports

Infantile pustular psoriasis (IPP) is an extremely rare skin disease associated with genetic factors. Gene mutations of IL36RN (interleukin-36 receptor antagonist), CARD14 (caspase recruitment family member 14), and AP1S1 (the σ1C subunit of the adaptor protein complex 1) had been identified to be involved in the pathogenesis of IPP. IPP usually develops with no preceding psoriasis vulgaris (PV) or familial history. Here, we report a case of a 6-month-old infant and make the diagnosis of IPP by a series of examinations; subsequently, by detecting coexistent mutations of IL36RN and CARD14, the diagnosis is intensified from a genetic point of view. We treated the child with traditional oral and topical drugs regardless of the commonly used acitretin considering its potential side effects, such as skeletal toxicity, and the lesions got conspicuous improvement with much reduction of inflammation. Owing to the genetic mutation of IL-36, there had been reported cases focusing on anti-IL36 biological agents in the treatment of IPP, and it could be a new weapon to treat and improve such IL-36RN-deficient skin diseases.
Temporal Approach, Digitally Assisted Phacovitrectomy in a Patient with Severe Kyphosis due to Axial Spondyloarthritis
Authors: J Rios-Nequis Geovanni, J Abel Ramírez-Estudillo, L Daniel Gutiérrez-García, Martin Jiménez-Rodríguez, Arthur Levine-Berevichez
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Purpose:
To describe a temporal approach, digitally assisted phacovitrectomy in a patient with severe kyphosis due to axial spondyloarthritis. Case Report. A 70-year-old male patient with proliferative diabetic retinopathy with vitreous hemorrhage and cataract and ankylosing spondylitis with severe kyphosis. A temporal approach, digitally assisted 25 G phacovitrectomy was performed with a Constellation platform and the NGENUITY visualization system. The Trendelenburg position was utilized.
Conclusion:
A temporal approach, digitally assisted phacovitrectomy may be used in select cases of severe kyphosis with positive outcomes.