OpenMed/multicare-articles huggingface dataset:
Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation
Authors: Simon K Law, Maha Sami, Natik Piri, Anne L Coleman, Joseph Caprioli
Journal: Mol Vis (2011)
MeSH terms: Aniridia / genetics, Eye Abnormalities / genetics, Homeodomain Proteins / genetics, Transcription Factors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Abnormalities, Multiple, Aniridia / diagnosis, Anterior Eye Segment / abnormalities, Base Sequence, Child, Diagnosis, Differential, Eye, Eye Abnormalities / diagnosis, Eye Diseases, Hereditary, Female, Genetic Variation, Genotype, Heterozygote, Homeodomain Proteins / metabolism, Humans, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Transcription Factors / metabolism, Homeodomain Proteins, Transcription Factors, homeobox protein PITX2, Axenfeld-Rieger syndrome

Purpose:
To evaluate the asymmetry of the anterior segment phenotype between the two eyes of a patient with Axenfeld-Rieger syndrome (ARS).
Methods:
The entire database of a tertiary glaucoma practice was screened for patients with ARS. The medical records of patients with ARS were reviewed. The clinical characteristics of ocular examination of the two eyes of each patient were recorded and compared. Dental and medical information were also reviewed where available. The anterior segment phenotype was tabulated to assess asymmetry. Asymmetric anterior segment characteristics of patients with ARS were compared with reported cases in the literature.
Results:
Eight patients with ARS were identified from screening of more than 5,000 patients of a tertiary glaucoma practice. All patients had Axenfeld-Rieger anomaly in both eyes except one patient presented with an asymmetric phenotype of the anterior segment with features of Axenfeld-Rieger anomaly in one eye, but aniridia in the other eye. This patient had non-ocular findings including flat midface, hypodontia with lack of an upper incisor, and redundant periumbilical skin, typical for ARS. A heterozygous C>T nucleotide substitution was identified in exon 4 of the pituitary homeobox 2 (PITX2) gene, resulting in the replacement of a glutamine codon (CAG) with a stop codon (TAG) at amino acid position 67. This mutation is denoted c.199C>T at the cDNA level or p.Gln67Stop (or Q67X) at the protein level. Only three cases with asymmetric anterior segment phenotype between the two eyes of a patient with AGS have been reported in the literature.
Conclusions:
Variability in phenotype may occur between the two eyes of an individual affected by ARS. The current case undermines the advantage of genetic testing to correctly diagnose a rare disease.
Case Report: Occupation Radiation Disease, Skin Injury, and Leukemia After Accidental Radiation Exposure
Authors: Xiaoji Hao, Anfang Ye, Shunfei Yu, Qianying Ni, Jiadi Guo, Xiangguo Wang, Shenyong Gao, Zhongjun Lai, Yaoxian Zhao, Zhiqiang Xuan
Journal: Front Public Health (2021)
Keywords: acute radiation disease, case report, ionizing radiation, leukemia, radioactive tumor
MeSH terms: Occupational Exposure / adverse effects, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Radiation Exposure / adverse effects, Case Reports, Adult, Chromosome Aberrations, Humans, Male, Occupations

Objective: Follow-up observation of radiation accident in which a worker developed acute radiation disease and eventually died of leukemia. The case provided key practical information for the study on clinical effects of radiation on the health of workers. Case Presentation: We observed and followed-up the progression and effect of radiation exposure at various stages in a 28-year-old male patient. We examined the chromosomal morphology, white blood cell count, and sperm count. Laboratory tests for leukemia diagnosis and other clinical parameters were performed. Results: After the patient was irradiated, the white blood cell level decreased, the sperm count dropped to 0, and the libido completely disappeared. The patient's chromosome aberration cell rate and total chromosome aberration cell rate were 7.33 and 7.66%, respectively. Examination of leukemia diagnostic experiments revealed that abnormal cells accounted for 60%; bone marrow examination showed that prolymphocytes abnormally proliferated, accounting for 89%, and had positive extracellular iron staining. After the initial treatment, the patient's white blood cell level increased and was finally maintained at a normal level, the sperm count returned to normal levels, and libido was restored. The patient died of acute lymphoblastic leukemia 34 years after the exposure. Conclusion: More attention has been paid to the long-term effects of ionizing radiation-induced malignant tumors. The occupational protection of radiographic inspection workers should be strengthened to reduce and avoid occupational injuries to protect the health and safety of workers.
Primary malignant melanoma of the uterine cervix treated with ultraradical surgery: a case report
Authors: Luz Calderón-Salazar, David Cantú de Leon, Delia Perez Montiel, Erika Almogabar-Villagrán, Verónica Villavicencio, Lucely Cetina
Journal: ISRN Obstet Gynecol (2011)
MeSH terms: Case Reports

Primary melanomas of the uterine cervix are rare tumors with no more than 60 cases reported in the world literature. Poor prognosis is considered for the neoplasia itself as well as for diagnostic tardiness. There is no standard treatment; however, radical surgery is the treatment cornerstone. Our aim was to present the case of a 34-year-old woman with a primary malignant melanoma in the uterine cervix with affectation of the posterior face of the vagina without metastasis. Total infraelevator pelvic exenteration and adjuvant radiotherapy was performed. The patient was under surveillance for 8 years of followup without evidence of local or distant disease. The majority of case reports found suggests radical hysterectomy as the treatment indicated for these patients. Notwithstanding this, survival is very short when patients are treated in this manner. Based on our results and on those reported in the literature, we propose initial treatment with total pelvic exenteration as optimal management for this neoplasia in its initial form.
Splenic and Portal Vein Thrombosis after Splenectomy: A Case Report
Authors: Thomas Saliba, Hanna Salame, Denis Tack
Journal: J Belg Soc Radiol (2022)
Keywords: portal vein thrombosis, post-operative thrombosis, splenectomy, splenic vein thrombosis, thrombosis
MeSH terms: Case Reports

Portal and splenic vein thrombosis are uncommon, potentially fatal post-operative complications following splenectomy. These thrombotic events may be asymptomatic or present with non-specific symptoms. Therefore, imaging is important for diagnosis. The risk of thrombosis is linked to spleen size, pre-operative thrombocytopenia and surgical technique. We present the case of a 40-year-old man who underwent curative and diagnostic laparotomic splenectomy following chronic thrombocytopenia and concurrent splenomegaly who subsequently developed extensive portal and splenic vein thrombosis. Teaching Point: Portal and splenic vein thrombosis after splenectomy is a relatively uncommon but important diagnosis in which radiology has a pivotal role.
Myositic type of idiopathic orbital pseudotumor in a 4-year-old child: a case report
Authors: Selim Bakan, Ayse Ahsen Bakan, Abdullah Kursat Cingu, Mehtap Beker Acay, Ahmet Gocmez, Ahmet Elbeyli, Serra Sencer
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Idiopathic orbital pseudotumor is a benign, noninfectious, and nonneoplastic disease with unknown cause. It is the third most common orbital disease after thyroid orbitopathy and lymphoproliferative disorder. Idiopathic orbital pseudotumor is extremely rare in pediatric age group and may cause real diagnostic problems. This paper describes a 4-year-old girl who presented with sudden ptosis in the right eye and swollen eyelid. She recovered completely with high-dose steroid therapy. We report clinical and magnetic resonance imaging findings of orbital myositis, which is a rare subtype of idiopathic orbital pseudotumor in children and needs to be differentiated from other orbital disease especially malignancy.
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N ( PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1
Authors: Shi-Qi Xiao, Mei-Hui Li, Yi-Lin Meng, Chuang Li, Hai-Long Huang, Cai-Xia Liu, Yuan Lyu, Quan Na
Journal: Front Genet (2020)
Keywords: pign, glycosylphosphatidylinositol-anchor biosynthesis pathway, multiple congenital anomalies-hypotonia-seizures syndrome 1, prenatal diagnosis, reproduction guidance

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) caused by phosphatidylinositol-glycan biosynthesis class N (PIGN) mutations is an autosomal recessive disease involving many systems of the body, such as the urogenital, cardiovascular, gastrointestinal, and central nervous systems. Here, compound heterozygous variants NM_012327.6:c.2427-2A > G and c.963G > A in PIGN were identified in a Chinese proband with MCAHS1. The features of the MCAHS1 family proband were evaluated to understand the mechanism of the PIGN mutation leading to the occurrence of MCAHS1. Ultrasound was conducted to examine the fetus, and his clinical manifestations were evaluated. Genetic testing was performed by whole-exome sequencing and the results were verified by Sanger sequencing of the proband and his parents. Reverse transcription-polymerase chain reaction was performed, and the products were subjected to Sanger sequencing. Quantitative PCR (Q-PCR) was conducted to compare gene expression between the patient and wild-type subjects. The compound heterozygous mutation NM_012327.6:c.2427-2A > G and c.963G > A was identified by whole-exome sequencing and was confirmed by Sanger sequencing. The NM_012327.6:c.2427-2A > G mutation led to skipping of exon 26, which resulted in a low expression level of the gene, as measured by Q-PCR. These findings provided a basis for genetic counseling and reproduction guidance in this family. Phenotype-genotype correlations may be defined by an expanded array of mutations.
Surgical management of mandibular central incisors with dumbbell shaped periapical lesion: a case report
Authors: Roopadevi Garlapati, Bhuvan Shome Venigalla, Jayaprakash D Patil, Thumu Jayaprakash, C H Krishna Chaitanya, Rama S Kalluru
Journal: Case Rep Dent (2014)

Dental traumatic injuries may affect the teeth and alveolar bone directly or indirectly. Pulpal necrosis and chronic and apical periodontitis with cystic changes are the most common sequelae of the dental traumatic injuries, if the teeth are not treated immediately. This case report focuses on the conventional and surgical management of mandibular central incisors. A twenty-four-year-old male patient presented with pain in the mandibular central incisors. Radiographic examination revealed mandibular central incisors with dumbbell shaped periapical lesion. After root canal treatment, parendodontic surgery was performed for mandibular central incisors. After one-year recall examination, the teeth were asymptomatic and periapical lesion had healed.
Successful Conservative Treatment of an Elderly Patient with Corrosive Proctocolitis
Authors: Chalerm Eurboonyanun, Somchai Ruangwannasak, Kulyada Eurboonyanun, Anan Sripanuskul
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Corrosive proctocolitis has occurred after accidental contamination of endoscopes in most patients. But accidental administration of corrosive agents for bowel cleansing can occur. The agents implicated for chemical colitis is 15% hydrochloric acid and 2% ethoxylated alcohol. We present a case of corrosive proctocolitis, present with anal pain and bloody diarrhea. Endoscopy revealed edema, erythema, and friability of the colonic mucosa. An experience of successful nonoperative treatments has been demonstrated.
Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia
Authors: Jacob D Kjelland, Denis M Dwyre, Brian A Jonas
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Acquired elliptocytosis is a known but rarely described abnormality in the myelodysplastic syndromes (MDS). Here we report the case of an elderly male who was admitted to the hospital with chest pain, dyspnea, and fatigue and was found to be anemic with an elliptocytosis that had only recently been noted on peripheral smears of his blood. After bone marrow biopsy he was diagnosed with MDS with ring sideroblasts and multilineage dysplasia and acquired elliptocytosis. Here we report a rare case of acquired elliptocytosis cooccurring with MDS with ring sideroblasts and multilineage dysplasia.
Toothpick inside the Common Bile Duct: A Case Report and Literature Review
Authors: V O Brunaldi, M O Brunaldi, R Masagao, C Silva, H Masuda, J E Brunaldi
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

The incidence and prevalence of foreign body (FB) ingestion are difficult to estimate. Unlike other foreign bodies, the ingestion of a toothpick is very uncommon and carries high morbidity and mortality rates. We report a case of a 73-year-old female patient presenting mid-term epigastric pain. Abdominal ultrasound revealed a slightly dilated common bile duct (CBD) and magnetic resonance showed an irregular filling failure in distal CBD and gallstones. Endoscopic Retrograde Cholangiopancreatography revealed major papilla on the edge of a diverticulum and confirmed the distal filling failure. After sphincterotomy, a partially intact toothpick was extracted from the CBD. Neither fistulas nor perforation signs were found. Literature related to foreign bodies and toothpick ingestion was reviewed and some hypotheses to explain the reported case were created. To our knowledge, this is the first report of a toothpick lodged inside the biliary tract.
Immune reconstitution inflammatory syndrome from Penicillium marneffei in an HIV-infected child: a case report and review of literature
Authors: Tavitiya Sudjaritruk, Thira Sirisanthana, Virat Sirisanthana
Journal: BMC Infect Dis (2012)
MeSH terms: Anti-HIV Agents / administration & dosage, HIV Infections / complications, HIV Infections / drug therapy, Immune Reconstitution Inflammatory Syndrome / diagnosis, Mycoses / diagnosis, Penicillium / isolation & purification, Case Reports, Research Support, Non-U.S. Gov't, Review, Adolescent, Asia, Southeastern, Dermatomycoses / microbiology, Dermatomycoses / pathology, Female, Hand / diagnostic imaging, Hand / pathology, Histocytochemistry, Humans, Immune Reconstitution Inflammatory Syndrome / microbiology, Immune Reconstitution Inflammatory Syndrome / pathology, Leg / diagnostic imaging, Leg / pathology, Microscopy, Mycoses / microbiology, Mycoses / pathology, Osteomyelitis / microbiology, Osteomyelitis / pathology, Radiography, Anti-HIV Agents

Backgrounds:
Disseminated Penicillium marneffei infection is one of the most common HIV-related opportunistic infections in Southeast Asia. Immune reconstitution inflammatory syndrome (IRIS) is a complication related to antiretroviral therapy (ART)-induced immune restoration. The aim of this report is to present a case of HIV-infected child who developed an unmasking type of IRIS caused by disseminated P. marneffei infection after ART initiation.
Case presentation:
A 14-year-old Thai HIV-infected girl presented with high-grade fever, multiple painful ulcerated oral lesions, generalized non-pruritic erythrematous skin papules and nodules with central umbilication, and multiple swollen, warm, and tender joints 8 weeks after ART initiation. At that time, her CD4+ cell count was 7.2% or 39 cells/mm3. On admission, her repeated CD4+ cell count was 11% or 51 cells/mm3 and her plasma HIV-RNA level was < 50 copies/mL. Her skin biopsy showed necrotizing histiocytic granuloma formation with neutrophilic infiltration in the upper and reticular dermis. Tissue sections stained with hematoxylin and eosin (H&E), periodic acid-Schiff (PAS), and Grocott methenamine silver (GMS) stain revealed numerous intracellular and extracellular, round to oval, elongated, thin-walled yeast cells with central septation. The hemoculture, bone marrow culture, and skin culture revealed no growth of fungus or bacteria. Our patient responded well to intravenous amphotericin B followed by oral itraconazole. She fully recovered after 4-month antifungal treatment without evidence of recurrence of disease.
Conclusions:
IRIS from P. marneffei in HIV-infected people is rare. Appropriate recognition and properly treatment is important for a good prognosis.
Retropharyngeal calcific tendonitis mimics a retropharyngeal abscess
Authors: Natasha Pollak, Sonya Wexler
Journal: Case Rep Otolaryngol (2013)

Retropharyngeal calcific tendonitis (RCT) is an uncommon, self-limiting condition that is often omitted in the differential diagnosis of a retropharyngeal fluid collection. This condition mimics a retropharyngeal abscess and should be considered when evaluating a fluid collection in the retropharyngeal space. Although calcific tendonitis at other sites has been well described in the medical literature, it appears that this entity has been underreported in the otolaryngology literature where only a few case reports have been identified. Presumably, the actual incidence is higher than the reported incidence, due to lack of familiarity with this disorder. As an otolaryngologist's scope of practice includes the managements of retropharyngeal lesions, it is important for the otolaryngologist to recognize the presentation of acute RCT and be familiar with appropriate treatment strategies. Retropharyngeal calcific tendonitis presents with neck pain, limitation of neck range of motion and includes inflammation, calcifications, and a sterile effusion within the longus colli muscle. Treatment is medical with nonsteroidal anti-inflammatory medications. RCT does not require surgical treatment, and an accurate diagnosis can prevent unnecessary attempts at operative drainage. In this study, we discuss two cases of RCT, summarize the salient features in diagnosis, including key radiologic features, discuss treatment options, and review the literature.
Inferior vena cava septic thrombosis due to gut perforation after accidental toothpick ingestion
Authors: Dario Poretti, Lorenzo Carlo Pescatori, Giovanni Mauri, Luca Maria Sconfienza, Giorgio Brambilla
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

A 57-year-old male patient was referred to our emergency department complaining of irremediable abdominal pain associated with mild fever. Abdominal CT scan revealed the presence of a small bowel perforation caused by an ingested toothpick, in association with a subsequent inferior vena cava thrombosis.
Rapid Onset Severe Immune Thrombocytopenia following mRNA COVID-19 Vaccine in a Young Patient
Authors: Jorge Avila, Huseyin Berk Degirmenci, Pamela Contreras Chavez, Elisabeth M Battinelli, Jorge Fleisher
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

The coronavirus disease 2019 (COVID-19) pandemic has affected millions of people around the world. Vaccination against COVID-19 has been approved for the following three vaccines in the United States: Pfizer-BioNTech, Moderna, and Janssen. Hematological complications of vaccination have been reported in the literature but remain as a rare phenomenon. We present the case of a patient who developed severe thrombocytopenia within twenty-four hours following the Pfizer-BioNTech vaccination. Commonly encountered differentials including heparin-induced thrombocytopenia and common viral etiologies were ruled out, and other causes such as drug reactions deemed unlikely as the etiology of this presentation after a broad workup. Nucleocapsid antibodies against COVID-19 were found to be positive which indicated that vaccination was at least the second encounter with this virus for our patient, which has been reported previously as the cause of immune thrombocytopenia (ITP), and this might be the culprit for sudden onset. He responded to the first-line ITP treatment with corticosteroids and intravenous immunoglobulin (IVIG) as evidenced by the fast recovery of platelet count and lack of recurrence of thrombocytopenia.
Non-operative management for high-grade isolated renal trauma in pediatric patients: a case series
Authors: Gede Wirya Diptanala Putra Duarsa, Paksi Satyagraha, Besut Daryanto
Journal: Pan Afr Med J (2023)
Keywords: kidney, hematuria, nonpenetrating, pediatrics, wounds
MeSH terms: Urinoma, Wounds, Nonpenetrating / therapy, Case Reports, Adolescent, Child, Drainage, Hematuria, Humans, Kidney, Male, Research

The kidney is the most commonly injured urinary tract organ in pediatric trauma with blunt mechanisms, causing around 80% of cases. Non-operative management (NOM) remained the first choice for minor blunt renal trauma; however, its value for major trauma is still under debate. We present three children with high-grade isolated renal trauma diagnosed using computed tomography scans and treated using NOM as the main strategy of treatment. The first patient (12-year-old) fully recovered without needing an auxiliary procedure. The second patient (6-year-old) developed urinoma and underwent percutaneous drainage of urinoma and double J stent (DJ) with an uneventful result. The third patient (14-year-old) developed urinoma and underwent percutaneous drainage and DJ stent. However, he experienced continuous hematuria that was treated via super-selective embolization. In conclusion, NOM for isolated high-grade renal trauma is feasible with good outcomes. If complications were developed during follow-up, minimally invasive procedures, such as super-selective angioembolization in continuing hemorrhage and initial drainage in urinoma, offered a comparable outcome without needing open surgery.