OpenMed/multicare-articles huggingface dataset:
Case Report: Off-Label Use of Omalizumab in a 6-Year-Old Boy With ASD Ameliorated Severe Allergic Rhinitis and Subsequently Improved Behavioral Symptoms
Authors: Xue-Jun Kong, Cullen Clairmont, Bryan Wang
Journal: Front Pediatr (2021)
Keywords: allergic rhinitis, anxiety, autism spectrum disorder, omalizumab, sleep disturbance
MeSH terms: Case Reports

Children with ASD have elevated risk for developing allergic symptoms. The severity of allergic symptoms can exacerbate behavioral problems in children with ASD. Omalizumab, an anti-IgE antibody, has previously shown efficacy in treating allergic rhinitis and behavioral problems in a 12-year-old child with ASD. The present case report provides robust characterization of behavioral improvement in a 6-year-old child with ASD, allergic rhinitis, and autoimmune disorder. A 6-year-old boy with ASD and Hashimoto's disease presented to the clinic with severe allergic rhinitis, irritability, and language delay. After other treatments failed to improve symptoms, our patient was treated with omalizumab at 300 mg/month via subcutaneous injection for a total of 6 months. Marked improvement in allergic symptoms were observed at 2 months into treatment and were maintained through the treatment period. At the conclusion of the treatment period, results from multiple behavioral questionnaires, including the SRS-2, ABC, RBS-R, and PSQI, demonstrated substantial improvement in ASD-related behavioral symptoms. In this case, omalizumab markedly improved ASD-related and sleep behavior in a 6-year-old with ASD, allergic rhinitis, and autoimmune disorder. Future studies with larger patient populations are warranted to investigate the efficacy of omalizumab in patients with ASD and allergy symptoms.
Case Report: Management of Multiple Deep-Tissue Cellulitis Without Sling Removal After an Anti-incontinence Procedure in a Female With Diabetes Mellitus
Authors: Hai-Hong Jiang, Sheng-Ping Hu, Yasmeen Bano, Ling-Xiao Ji, Peng-Fei Zhang, Kai Zhou
Journal: Front Surg (2020)
Keywords: cellulitis, stress urinary incontinence (sui), synthetic sling, tension-free vaginal tape transobturator (tvt-o), type 2 diabetes
MeSH terms: Case Reports

The transobturator suburethral tape procedure is emerging as a preferred surgical option in the management of stress urinary incontinence. This procedure, also called tension-free vaginal tape transobturator (TVT-O) procedure, has fewer risks of injury to the bladder, similar effectiveness, and shorter surgery duration compared with the older tension-free vaginal tape (TVT) procedure. In this study, we report the case of a female patient with type 2 diabetes mellitus who developed emergency ketoacidosis and severe cellulitis after a TVT-O procedure, which was successfully managed without sling removal and open drainage of abscesses after multi-point puncture drainage, guided by ultrasound and appropriate antibiotic administration. The patient showed appropriate urinary continence with controlled diabetes mellitus 24 months after treatment. In conclusion, cellulitis from the pelvic floor to the associated thigh after TVT-O procedure in a diabetic patient can be managed conservatively if no sling exposure is confirmed. However, these patients should be closely observed and followed up during the perioperative period, especially for synthetic sling use.
Bouveret's syndrome-a rare form of gallstone ileus causing death: appearance on post-mortem CT and MRI
Authors: Silvio Giancarlo Bruni, Michael Pickup, Dawn Thorpe
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Bouveret's syndrome is a very rare cause of gastric outlet obstruction occurring as a complication of cholelithiasis with cholecystogastric or cholecystoenteric fistula. Without timely diagnosis and intervention Bouveret's syndrome can be associated with a high rate of morbidity and mortality, with common causes of death including metabolic derangements, aspiration pneumonia and post-operative complications. We report the case of a 67-year-old female found dead in her home with regurgitated gastric contents filling her mouth and nasal cavity. Post-mortem CT and MRI imaging was performed and subsequently revealed a fistulous tract between the gallbladder and proximal duodenum, with impaction of a large obstructing stone in the mid-portion of the duodenum. Post-mortem imaging also revealed findings of gastric outlet obstruction, which was presumed to be a primary contributor to her cause of death.
Interim restorative approach for the management of congenitally missing permanent mandibular incisors: presentation of three cases
Authors: Prashanth Prakash, Jayadev M Hallur, Rachana Narse Gowda
Journal: Case Rep Dent (2011)
MeSH terms: Case Reports

Congenital missing of mandibular permanent incisors with retained primary incisors may jeopardize the esthetic appearance and psychological development of children, especially during the years of transition into adolescence. The retained primary teeth are necessary for the maintenance and normal development of alveolar bone, which in turn is essential for future definitive rehabilitation. In such situations, an interim restoration may be provided before any definitive treatment is given to comfort the young patient during this transition period. Interim restorations may include resin-modified additions to the existing teeth as well as more sophisticated restorations such as resin-retained bridge and removable partial dentures. However, this restoration differs for different clinical situations based on various factors such as age and patient compliance, and also consideration has to be given for the growth changes of the child. The aim of this present paper is to discuss the esthetic management of three cases with bilateral agenesis of permanent mandibular incisors and retained primary incisors with composite interim restoration.
Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three-Year Follow-Up
Authors: Andrea Gómez-González, Miguel Ángel Rosales-Berber, Paola De Ávila-Rojas, Amaury Pozos-Guillén, Arturo Garrocho-Rangel
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans. Diagnosis is typically based on clinical examination, skeletal radiographs, and histochemical tests in blood cells or fibroblasts. It is characterized by evident skeletal deformities, poor joint mobility, severe growth deficit, occlusal anomalies, and enamel defects. The aim of the present clinical case report is to describe the general oral management provided to a 6-year-old female patient and its corresponding evolution for more than three years.
Trigeminal neuralgia caused by cavernoma: A case report with literature review
Authors: Hongyu Liu, Chuanbiao Chen, Yuyang Liu, Jialin Liu, Xinguang Yu, Ling Chen
Journal: Front Neurol (2022)
Keywords: case report, cavernoma, magnetic resonance imaging, trigeminal nerve, trigeminal neuralgia
MeSH terms: Case Reports

Cavernoma is the second most common cerebrovascular lesion. Cavernoma involving the cranial nerves is very rare. Only 15 cases of cavernoma presenting with trigeminal neuralgia (TN) have been previously reported. Here, we report a rare case of cavernoma manifesting with TN. A young female patient with a 15-day history of right-sided lancinating pain in the face, difficulty in opening the mouth, and hearing dysesthesia. Magnetic resonance imaging (MRI) revealed a well-demarcated lesion in the cerebellopontine angle related closely to the root of the trigeminal nerve. The initial impression was that of a neurinoma. The lesion was surgically resected via the retrosigmoid approach, postoperative pathological analysis confirmed the diagnosis of cavernoma, and the patient's pain and difficulty in opening the mouth resolved completely. We presented the 16th documented case of cavernoma with TN. Although cavernoma involving the trigeminal nerve is extremely rare, this diagnosis should be taken into consideration when a lesion in the cerebellopontine angle is detected on MRI, and the clinical manifestation is consistent with that of secondary TN. Specialized MRI sequences, such as susceptibility weighted imaging (SWI), gradient echo T2, and constructive interference in steady-state (CISS)-weighted imaging, aid in establishing the diagnosis. Resection via craniotomy may be the primary management strategy for cavernoma causing TN. In addition, gamma knife radiosurgery (GKRS) and percutaneous balloon compression (PBC) may ameliorate the pain to some extent.
Posterior reversible encephalopathy syndrome after anlotinib treatment for small cell lung cancer: A case report and literature review
Authors: Xiaomeng Zou, Peng Zhou, Wei Lv, Chuanyong Liu, Jie Liu
Journal: Front Pharmacol (2023)
Keywords: anlotinib, antiangiogenic therapy, case report, posterior reversible encephalopathy syndrome, small cell lung cancer
MeSH terms: Case Reports

Anlotinib is an oral multi-targeted tyrosine kinase inhibitor as a third-line and subsequent treatment for patients with small cell lung cancer (SCLC) in China. The neurotoxicity is less reported. Posterior reversible encephalopathy syndrome (PRES) is characterized by headaches, seizures, encephalopathy, and visual disturbances, as well as focal reversible vasogenic edema seen on neuroimages. Here, we presented a case of PRES in a small cell lung cancer (SCLC) patient associated with anlotinib. A 37-year-old female patient, who had a history of diabetes, with extensive-stage SCLC received anlotinib after third-line chemotherapy. Ten cycles of anlotinib later, the patient experienced visual disturbance and was diagnosed with PRES based on the typical demyelination of white matter obtained in the brain magnetic resonance. During anlotinib therapy, the patient did not develop anti-VEGF therapy-induced hypertension. Subsequently, the patient stopped anlotinib, but she did not recover from symptoms. We also summarized the characteristics of fifty-four cases of PRES caused by antiangiogenic drugs in the literature. Based on our experience and the literature review, the incidence of PRES induced by antiangiogenic drugs is low, and the symptom can resolve upon stopping the medications. However, some cases still have a poor prognosis and the underlying mechanism requires further investigation. In addition, early detection and treatment of PRES are essential for physicians.
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder
Authors: Florence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, Frédérique Dijoud, Daniela Brindusa Gorduza, Patricia Bretones, Yves Morel
Journal: Front Endocrinol (Lausanne) (2019)
Keywords: mirage syndrome, samd9, disorders of sex development, fetal growth retardation, reversion mutations, revertant mutations, small for gestational age
MeSH terms: Case Reports

Context: MIRAGE (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy) syndrome is a severe multisystem disorder with high mortality. It is caused by a heterozygous gain of function mutation in the growth repressor gene SAMD9. The increasing number of reported cases displays a spectrum of phenotypes that may be explained by an adaptation mechanism, with appearance of a somatic second hit mutation with revertant effects. Objective: To determine the genetic basis of the MIRAGE syndrome rapidly corrected in a living and healthy 46,XY patient. Subjects and Methods: A 46,XY patient born with growth restriction and disorders of sex development had thrombocytopenia and necrotizing enterocolitis during the neonatal period suggestive of the syndrome. Faced with the rapid improvement of the patient's phenotype, an adaptation mechanism was sought by repeating genetic analysis at different ages; her parents also underwent genetic analysis. Results: The previously described p.(Thr778Ile) mutation was identified and surprisingly transmitted by the asymptomatic mother in this usually de novo syndrome. To explain the rapid improvement of the patient's phenotype and absence of symptoms in the mother, an adaptation mechanism was sought. For the mother, a non-sense mutation was found (p.(Arg221*)) in cis, and most likely appeared in utero. It was not transmitted to her child. The child harbored a different non-sense mutation (p.(Arg285*)) that most likely appeared near day 20. Conclusions: We show that pathogenic variants can be inherited from a healthy parent as the adaptation mechanism may arise early in life and mask symptoms. Presence of revertant mosaicism mutations could explain "incomplete penetrance" in other disease. For a better management and outcomes in patients, appearance of this natural gene therapy should be sought by repeating genetic analysis.
Fatal Cobalt Toxicity after a Non-Metal-on-Metal Total Hip Arthroplasty
Authors: Rinne M Peters, Pax Willemse, Paul C Rijk, Mels Hoogendoorn, Wierd P Zijlstra
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

This case illustrates the potential for systemic cobalt toxicity in non-metal-on-metal bearings and its potentially devastating consequences. We present a 71-year-old male with grinding sensations in his right hip following ceramic-on-ceramic total hip arthroplasty (THA). After diagnosing a fractured ceramic liner, the hip prosthesis was revised into a metal-on-polyethylene bearing. At one year postoperatively, X-rays and MARS-MRI showed a fixed reversed hybrid THA, with periarticular densities, flattening of the femoral head component, and a pattern of periarticular metal wear debris and pseudotumor formation. Before revision could take place, the patient was admitted with the clinical picture of systemic cobalt toxicity, supported by excessively high serum cobalt and chromium levels, and ultimately died. At autopsy dilated cardiomyopathy as cause of death was hypothesized. A third body wear reaction between ceramic remnants and the metal femoral head very likely led to excessive metal wear, which contributed systemic cobalt toxicity leading to neurotoxicity and heart failure. This case emphasizes that fractured ceramic-on-ceramic bearings should be revised to ceramic-on-ceramic or ceramic-on-polyethylene bearings, but not to metal-on-polyethylene bearings. We aim to increase awareness among orthopedic surgeons for clinical clues for systemic cobalt intoxication, even when there is no metal-on-metal bearing surface.
A Rare and Treatable Cause of Medullar Claudication: Spinal Dural Arteriovenous Fistula
Authors: Celine Derollez, Celine Tard, Apolline Kazémi, Patrick Vermersch, Jean-Pierre Pruvo
Journal: Ochsner J (2019)
Keywords: angiography, central nervous system vascular malformations, dural arteriovenous fistula, embolization–therapeutic, intermittent claudication, spinal cord diseases
MeSH terms: Case Reports

Background: Spinal dural arteriovenous fistula is a rare and underdiagnosed disorder. Because of the nonspecific clinical presentation of the condition, patients are often referred to different specialists, resulting in delayed diagnosis. Case Report: A 76-year-old male presented with a 1-month history of gait trouble. His impairment was asymmetric, distally predominant, sensitive, and motor. Symptoms worsened with standing and walking. The patient also had sphincterial dysfunction. Classic spinal cord magnetic resonance imaging (MRI) showed an extended hypersignal indicating nonspecific myelopathy. Repeat spinal cord MRI that included a T2 spin echo sequence revealed abnormalities suggesting dural arteriovenous fistula. Medullar angiography confirmed the diagnosis, and endovascular treatment was successfully performed. Six months posttreatment, the patient reported resolution of his neurologic disabilities except for some residual paresthesia in his inferior limbs. Conclusion: Physicians should be aware of the specific abnormalities shown on spinal cord MRI that indicate dural arteriovenous fistula, as well as the criteria for performing medullar angiography, so that the condition can be diagnosed and treated in a timely manner. Early therapeutic treatment is the principal prognosis factor.
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families
Authors: Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively. Two patients had been splenectomised and displayed thrombotic episodes. All patients had iron overload in the absence of transfusion, two of them requiring iron chelation. The diagnosis of HX was confirmed by LoRRca Osmoscan analysis showing a left-shifted curve. PIEZO1 gene sequencing revealed the presence of mutation p.E2496ELE, showing that this is one of the most frequent mutations in this disease. The concomitant defects did not aggravate the clinical phenotype; however, in one patient, the initial diagnosis of pyruvate kinase deficiency delayed the correct diagnosis of HX for many years and resulted in splenectomy followed by thrombotic complications. The study underlines the importance of a precise diagnosis in HX, particularly in view of splenectomy, and the need of a molecular confirmation of suspected RBC enzymopathy.
Unilateral pulmonary artery aplasia in a pregnant patient
Authors: Chitra Lal, Jim Barker, Charlie Strange
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Unilateral pulmonary artery aplasia is a rare anomaly. Case reports of this condition in pregnant patients are even more uncommon and the best approach to management of such patients is still unclear. We report a patient who presented with a history of dyspnea, chest pain, and hemoptysis. Imaging established the diagnosis in a newly pregnant female. Management of the pulmonary artery aplasia patient in pregnancy requires prospective evaluation of pulmonary hypertension.
Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome
Authors: Wun Fung Hui, Kam Lun Hon, Alexander K C Leung, Kristine Kit Yi Pang, Michael Wai Yip Leung
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Children with Menkes disease may develop various urological and renal problems that evolve as the disease progresses. A 4-year-old boy with Menkes disease had multiple bladder diverticula and a history of recurrent urinary tract infection caused by urea-splitting organisms. The child developed urosepsis and right pyelonephritis. Subsequent investigations revealed multiple right renal stones and a ruptured right ureter. The child also developed hypokalemia, hypophosphatemia, and normal anion gap metabolic acidosis that required electrolyte and potassium citrate supplement. Further assessment revealed renal tubular dysfunction. Our case suggests that regular imaging surveillance, monitoring of renal function and electrolyte profile, and tubular function assessment should be considered in children with Menkes disease.
Toxic Nightlife Relationships, Substance Abuse, and Mental Health: Is There a Link? A Qualitative Case Study of Two Patients
Authors: Sandra Racionero-Plaza, Juan Antonio Piñero León, Manuel Morales Iglesias, Leire Ugalde
Journal: Front Psychiatry (2021)
Keywords: intimate partner violence, mental disorder (disease), peer group, psychiatric rehabilitation, substance use disorder, toxic relationships

Introduction and Aims: This article explores the role of toxic close relationships in night life on substance use disorders and mental health conditions. We also contrast the quality and effects of social relationships when doing drugs with those produced by a mental health program that fosters quality relationships between patients. Design and Methods: This qualitative case study was carried out at a mental health day care center of a hospital in Malaga (Spain). The cases of two patients with severe mental disorders and a history of drug addiction were analyzed. Data were collected through in-depth interviews with every patient, semi-structured interviews about each patient with the psychologist of the medical team of the program, and medical documentation. The analysis involved a combination of inductive and deductive approaches. Results: The analysis of the data revealed, on the one hand, the influence of toxic relationships in nightlife, including violent sporadic sexual relationships, in the initiation and persistence of substance use that took part of the mental health disorder in these patients. On the other hand, the findings show that these participants' current involvement in a mental health program, which fosters quality relationships between patients, has brought emotional benefits to both of them. Discussion and Conclusion: This paper points out the relevance of considering quality of social relationships when examining substance use disorders and related mental health problems. Additionally, the findings indicate the importance of fostering quality peer relationships in mental health rehabilitation programs addressed to patients with histories of drug addiction to improve treatment outcome.
Prosthodontic rehabilitation of a bruxer patient with severely worn dentition: a clinical case report
Authors: Farhang Mahboub, Elnaz Moslehi Fard, Farideh Geramipanah, Habib Hajimiragha
Journal: J Dent Res Dent Clin Dent Prospects (2009)
Keywords: metal-ceramic restoration, occlusal plane, occlusal vertical dimension (ovd), prosthodontic rehabilita-tion, tooth wear
MeSH terms: Case Reports

The management of tooth wear has been a subject of increasing interest from both preventive and restorative points of view. This article describes the full mouth rehabilitation of a 54-year-old bruxer woman with a severely worn dentition and other dental problems including unsuitable restorations and several missing teeth. The treatment entailed using cast posts and cores, metal-ceramic restorations, and a removable partial denture. As with the treatment procedure of such cases, equal-intensity centric occlusal contacts on all teeth and an anterior guidance in harmony with functional jaw movements were especially taken into account.