OpenMed/multicare-articles huggingface dataset:
Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome
Authors: Otto Lennartsson, Maria Lodefalk, Henrik Wehtje, Eva-Lena Stattin, Lars Sävendahl, Ola Nilsson
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: dnmt3a, tatton-brown-rahman syndrome, epiphysiodesis surgery, overgrowth, tall stature
MeSH terms: Body Height, DNA Methyltransferase 3A / genetics, Musculoskeletal Abnormalities / etiology, Case Reports, Research Support, Non-U.S. Gov't, Autism Spectrum Disorder / genetics, DNA / genetics, Developmental Disabilities / genetics, Female, Femur / surgery, Fibula / surgery, Humans, Intellectual Disability / etiology, Intellectual Disability / genetics, Musculoskeletal Abnormalities / surgery, Syndrome, Tibia / surgery, Young Adult, DNMT3A protein, human, DNA, DNA Methyltransferase 3A

Objective:
To present a rare clinical case of a patient with Tatton-Brown-Rahman syndrome and the outcome of tall stature management with bilateral epiphysiodesis surgery at the distal femur and proximal ends of tibia and fibula.
Study design:
Clinical case report.
Results:
This is a 20-year-old female with a history of proportional tall stature, developmental psychomotor and language delay with autism spectrum behavior and distinctive facial features. At 12 years and 2 months of age she was in early puberty and 172.5 cm tall (+ 2.8 SDS) and growing approximately 2 SDS above midparental target height of 173 cm (+ 0.9 SDS). A bone age assessment predicted an adult height of 187.1 cm (+3.4 SDS). To prevent extreme tall stature, bilateral epiphysiodesis surgery was performed at the distal femur and proximal ends of tibia and fibula at the age of 12 years and 9 months. After the surgery her height increased by 12.6 cm to 187.4 cm of which approximately 10.9 cm occurred in the spine whereas leg length increased by only 1.7 cm resulting in a modest increase of sitting height index from 50% (-1 SDS) to 53% (+ 0.5 SDS). Genetic evaluation for tall stature and intellectual disability identified a de novo nonsense variant in the DNMT3A gene previously associated with Tatton-Brown-Rahman syndrome.
Conclusion:
Tatton-Brown-Rahman syndrome should be considered in children with extreme tall stature and intellectual disability. Percutaneous epiphysiodesis surgery to mitigate extreme tall stature may be considered.
Esophageal gastrointestinal stromal tumor: diagnostic complexity and management pitfalls
Authors: Charalampos G Markakis, Eleftherios D Spartalis, Emmanouil Liarmakopoulos, Evangelia G Kavoura, Periklis Tomos
Journal: Case Rep Surg (2013)

Introduction. Gastrointestinal stromal tumors of the esophagus are rare. Case Presentation. This is a case of a 50-year-old male patient who was referred to our department complaining of atypical chest pain. A chest computed tomographic scan and endoscopic ultrasound revealed a submucosal esophageal tumor measuring 5 cm in its largest diameter. Suspecting a leiomyoma, we performed enucleation via right thoracotomy. The pathology report yielded a diagnosis of an esophageal gastrointestinal stromal tumor. The patient has shown no evidence of recurrence one year postoperatively. Conclusions. This report illustrates the complexity and dilemmas inherent in diagnosing and treating esophageal GISTs.
Graves' disease treated by complementary medicine leading to thyroid storm: A case report
Authors: Linda Daffini, Ilenia Pirola, Giovanni Saccà, Massimo Salvetti, Carlo Cappelli
Journal: Caspian J Intern Med (2021)
MeSH terms: Case Reports

Background:
Thyroid storm is a rare, life-threatening condition characterized by severe clinical manifestations of thyrotoxicosis and can be precipitated by several factors. We described a thyroid storm precipitated by a long-term treatment using homeopathic medicine containing iodine.
Case presentation:
A 55-year-old Italian woman was admitted to our Sub-Intensive Care Unit with the diagnosis of congestive heart failure and thyrotoxicosis. She has been diagnosed with Graves' disease two years before; she refused conventional therapy and in the preceding six months had been using phytotherapeutic and homeopathic medicine. We found serum and urine iodine levels consistent with severe intoxication by iodine (serum iodine: 42100 mcg/L and urinary iodine: 4223 mcg/L, respectively). After a few hours, the patient went into cardiac arrest. She was subjected to invasive ventilation, dialyzed with continuous veno-venous hemofiltration and treated with vasoactive amines.
Conclusion:
The high level of iodemia manifested in our patient - around a thousand times greater than the normal range and itself associated with fatal outcomes - was caused by long-term homeopathic treatment. This long-term treatment has two consequences: first, iodine load-precipitated hyperthyroidism in thyroid storm, and secondly, it prevents us from treating patients with inorganic iodide.
Severely Calcified Pericardium Causing Constrictive Pericarditis
Authors: Jagdeep Kaur, Jack Xu, Hani J Alturkmani, Subhi Al'Aref, Gaurav Dhar
Journal: Methodist Debakey Cardiovasc J (2023)
Keywords: calcified pericardium, constrictive pericarditis, impaired cardiac output
MeSH terms: Pericarditis, Constrictive / diagnostic imaging, Pericarditis, Constrictive / etiology, Pericarditis, Constrictive / surgery, Case Reports, Echocardiography, Humans, Pericardium / diagnostic imaging, Tomography, X-Ray Computed

Constrictive pericarditis (CP) is a type of diastolic heart failure caused by an inelastic pericardium that impairs cardiac filling. Diagnosing CP can be challenging, and a variety of imaging techniques may be necessary. We present a unique case of severely calcified pericardium leading to CP.
Selection and Interpretation of Scientific Evidence in Preparation for Policy Decisions: A Case Study Regarding Introduction of Rotavirus Vaccine Into National Immunization Programs in Sweden, Norway, Finland, and Denmark
Authors: Gry St-Martin, Ann Lindstrand, Synne Sandbu, Thea Kølsen Fischer
Journal: Front Public Health (2018)
Keywords: nordic countries, policy decisions, policy-making processes, rotavirus vaccines, vaccine introduction

The World Health Organization recommends inclusion of rotavirus vaccines in national immunization programs (NIPs) worldwide. Nordic countries are usually considered comparable in terms of demographics and health-care services and have comparable rotavirus disease burden. Nevertheless, the countries have reached different decisions regarding rotavirus vaccine: Norway and Finland have already introduced rotavirus vaccines into their NIPs and Sweden is currently changing its recommendation and vaccines will now be introduced on a national scale while Denmark has decided against it. This study focuses on the selection and interpretation of medical and epidemiological evidence used during the decision-making processes in Sweden, Norway, Finland, and Denmark. The so-called "severity criteria" is identified as one of the main reasons for the different policy decisions reached across the Nordic countries.
Caffeine Intoxication in Pregnancy; a case Report
Authors: Tsuyoshi Nojima, Hiromichi Naito, Yoshinori Kosaki, Takaaki Osako, Kimiaki Tanaka, Atsuo Murata, Atsunori Nakao
Journal: Arch Acad Emerg Med (2019)
Keywords: caffeine, hemodiafiltration, poisoning, pregnancy
MeSH terms: Case Reports

Although fatalities due to caffeine intoxication are uncommon, a caffeine overdose may cause profound toxicity, resulting in tachycardia, arrhythmia, convulsions, vomiting, coma, and possibly death. In particular, high caffeine consumption while pregnant can cause increased fetal catecholamine levels, which could lead to increased fetal heart rate and placental vasoconstriction and impair fetal oxygenation. Therefore, caffeine intoxication in pregnant women should be treated immediately. Herein, we present a 33-year-old pregnant woman who was treated in our department after ingesting 4000mg of caffeine in an attempt to commit suicide. We successfully treated our patient, and she delivered a healthy baby at 38 weeks.
Fibrolamellar Hepatocellular Carcinoma and Noncirrhotic Hyperammonemic Encephalopathy
Authors: Oscar Suarez, María Perez, Martin Garzon, Rodrigo Daza, Geovanny Hernandez, Carolina Salinas, Jorge Ceballos, Enrique P de Leon, Jacqueline Mugnier, Oscar Beltrán, Adriana Varón
Journal: Case Reports Hepatol (2018)
MeSH terms: Case Reports

Fibrolamellar hepatocarcinoma is an infrequent liver tumor, currently considered to be a variant different from hepatocarcinoma. The differences lie in genomic alterations, a greater prevalence of fibrolamellar hepatocarcinoma in young patients, and its lack of association with underlying liver disease. The clinical presentation is unspecific, with symptoms ranging from abdominal pain, malaise, and weight loss to atypical manifestation which include hyperammonemic encephalopathy. We present the case of a 33-year-old woman with no prior medical history who presented with a coma and a diagnosis of inoperable fibrolamellar hepatocarcinoma requiring a cadaver donor transplant. While she was on the waiting list, she received hemofiltration and ammonium benzoate treatment, with progressive improvement in her state of consciousness.
Adult Nesidioblastosis in Chronic Kidney Disease
Authors: Eduardo Lozano-Melendez, Mercedes Aguilar-Soto, Luis Eugenio Graniel-Palafox, Laura Elena Ceceña-Martínez, Rafael Valdez-Ortiz, Fabio Solis-Jimenez
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Context:
Nesidioblastosis is a rare cause of hyperinsulinemic hypoglycemia in adults. The diagnosis is further complicated in patients with kidney failure, since impaired renal function can cause hypoglycemia by itself and diagnostic criteria for this clinical scenario have not been developed yet.
Case description:
We present the case report of a 36-year-old patient with end stage chronic kidney disease who presented to the emergency department because of hypoglycemia. However, the patient's hypoglycemia did not respond well to medical treatment; the diagnosis of hyperinsulinemic hypoglycemia was made due to the presence of inappropriately high levels of insulin, proinsulin, and C-peptide during an episode of hypoglycemia. Imaging studies were performed without any conclusive findings; so selective intra-arterial pancreatic stimulation with hepatic venous sampling (SACTS) was done. Based on the results of this study the patient was referred for subtotal pancreatectomy. Classic criteria for the diagnosis of insulinoma with SACTS required a 2-fold increase in insulin levels but newer criteria suggest thresholds that are useful in the differential diagnosis of insulinoma and nesidioblastosis. In our patient, the former criteria were positive; however, the new criteria were not compatible with insulinoma but with nesidioblastosis, which was the final histopathological diagnosis.
Conclusion:
This seems to be the first case report of a patient with end stage chronic kidney disease and nesidioblastosis, as well as the first case of hyperinsulinemic hypoglycemia in the context of kidney failure diagnosed by SACTS. We consider this method to be very useful in patients with renal impairment because peripancreatic insulin levels do not depend on the renal function.
Rare Metastasis of Gastric Cancer to the Thyroid Gland: A Case Report and Review of Literature
Authors: Zehui Wu, Tao Guo, Qiang Li, Liang Cheng, Xiaosi Hu, Aman Xu
Journal: Front Surg (2021)
Keywords: case report, diagnosis, gastric cancer, metastasis, prognosis, thyroid
MeSH terms: Case Reports

Background: It is common for patients with gastric cancer to develop distant metastases in the liver, lung, bone, and brain. Although the thyroid also has an abundant blood supply, gastric cancer metastasis to the thyroid is uncommon. Due to the rarity of such metastasis, its clinical features are not well understood. Here, we present the case of a patient with gastric cancer metastasis to the thyroid treated at our hospital. Case Summary: We report the case of a 63-year-old female with a mass in the anterior neck and mild hoarseness for 6 months. The patient underwent proximal subtotal gastrectomy for Siewert III oesophagogastric junction cancer 6 years ago. Subsequently, she received 8 cycles of adjuvant chemotherapy. Her condition was stable until mild hoarseness developed for no apparent reason 6 months prior to presenting at our clinic. Both ultrasonography and computed tomography confirmed a heterogeneous mass in the right lobe of the thyroid gland. Blood thyroid function tests and tumor marker expression levels were normal. Thyroid malignancy was suspected, and the patient underwent a right thyroidectomy. During the surgery, a tumor was found that had invaded the right recurrent laryngeal nerve and trachea. H&E staining and immunohistochemistry results suggested that the cancer cells originated from gastric cancer. The patient was diagnosed with thyroid metastasis of gastric cancer. She refused further treatment and died within 6 months. Conclusion: Metastasis of gastric cancer to the thyroid is rare and is associated with a poor prognosis. Immunohistochemical diagnosis is essential for a conclusive diagnosis. For patients with a history of malignant tumors, the possibility of metastatic thyroid nodules should be ruled out when diagnosing thyroid nodules.
Primary solitary hydatid disease of brain in a 16-year-old girl: a case report
Authors: Prateek Pulavarty, Paresh Korde, Sagar Rathod, Juhi Patnaik, Rajesh Domakunti, Shivansh Pratap Singh
Journal: Pan Afr Med J (2022)
Keywords: dowling's approach, echinococcus, isolated intracerebral hydatid disease, case report
MeSH terms: Echinococcosis / diagnosis, Echinococcosis / surgery, Case Reports, Adolescent, Brain / diagnostic imaging, Diagnosis, Differential, Female, Humans

Isolated involvement of brain with hydatid disease is a rare manifestation and occurs in only 1-2% of all Echinococcus granulosus infections. Here we present a young female of 16 years with primary intra cranial hydatid cyst without any extracranial involvement in the liver or lung. The patient was managed surgically and anti-helemthic medications were given, and the patient was discharged. The objective is to report a rare case of primary solitary hydatid cyst of brain. The incidence of isolated hydatidosis of brain is rare and should be considered as a differential diagnosis in endemic areas. Isolated Hydatidosis of brain is managed surgically and has to be removed carefully without spillage with postoperative medication to reduce the risk of recurrence.
Lateral Meningomyelocele in a Neonate: A Case Report
Authors: G Raghavendra Prasad, T M Rashmi
Journal: J Neonatal Surg (2016)
Keywords: lateral meningomyelocele, neuro-enteric cyst, spina bifida, tethered cord
MeSH terms: Case Reports

Lateral presentation of meningocele and meningomyelocele is extremely rare. Most of the lateral meningocele described are associated with other syndromes. Isolated lateral meningomyelocele cases are rarer still. We herein report a neonate with isolated lateral gluteal meningomyelocele.
Deoxycorticosterone producing tumor as a cause of resistant hypertension
Authors: Saurabh Gupta, Jose Melendez, Apurv Khanna
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

We describe a young woman with longstanding resistant hypertension. Evaluation for renal artery stenosis and primary aldosteronism was unrevealing. In this setting of a suppressed plasma aldosterone concentration (PAC) and a suppressed plasma renin activity (PRA), a differential diagnosis of a deoxycorticosterone (DOC) producing tumor was entertained. Biochemical and imaging studies confirmed this diagnosis. Rare and novel DOC producing tumors are an important cause of resistant hypertension.
Bilateral Greater Trochanteric Avulsion Fractures after Bilateral Simultaneous Total Hip Arthroplasty
Authors: Hiroaki Tagomori, Nobuhiro Kaku, Tomonori Tabata, Hiroshi Tsumura
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

We report a case of bilateral spontaneous greater trochanteric fracture after bilateral simultaneous total hip arthroplasty (THA) performed via the posterolateral approach during the early postoperative phase. A 75-year-old woman underwent bilateral simultaneous THA (BS-THA) for severe osteoarthritis with developmental dysplasia of the hip; she also presented a limited range of adduction. BS-THA was successful without any intraoperative complications. Rehabilitation with full weight-bearing exercises was initiated the day after the surgery. On the 14th postoperative day, she experienced a spontaneous left greater trochanteric fracture during a walking exercise without any trauma. Osteosynthesis was performed for the fracture on the 18th postoperative day. On the 20th postoperative day, a right spontaneous greater trochanteric avulsion fracture occurred during a transfer exercise without any trauma; this was treated on the 27th postoperative day. In the 18th postoperative month, although the right fragment showed slight upper migration, the patient had no complaints of coxalgia and both hip joints showed an excellent range of motion.
Anesthesia Management of a Liver Transplant Recipient with Remimazolam
Authors: Takashi Kawasaki, Takafumi Oyoshi, Naoyuki Hirata
Journal: Case Rep Anesthesiol (2023)
MeSH terms: Case Reports

Background:
Intraoperative anesthetic requirements might be altered due to the modulated metabolic function in living donor liver transplant recipients. Remimazolam may provide appropriate anesthesia in patients with cirrhosis. However, the efficacy and safety of remimazolam in liver transplant recipients have not been reported. We present the successful anesthesia management of a liver transplant recipient using remimazolam. Case Presentation. A 54-year-old woman who was diagnosed with Child-Pugh C cirrhosis of unknown etiology was scheduled for living donor liver transplantation. Remimazolam was used for anesthesia management under electroencephalogram monitoring, including bispectral index (BIS) and patient state index (PSI) values. Despite the prolonged surgical time (1,037 min) and massive blood loss (22,500 mL), BIS and PSI values were maintained within acceptable ranges intraoperatively. There was no intraoperative awareness/recall or adverse events associated with remimazolam administered perioperatively.
Conclusions:
We safely managed general anesthesia for living donor liver transplantation with remimazolam using electroencephalogram monitoring.
Influence of hybrid assistive limb gait training on spatial muscle activation patterns in spinal muscular atrophy type III
Authors: Yuichi Nishikawa, Kohei Watanabe, Naoya Orita, Noriaki Maeda, Hiroaki Kimura, Shinobu Tanaka, Allison Hyngstrom
Journal: F1000Res (2021)
Keywords: electromyography, gait training, hybrid assistive limb, rehabilitation, spinal muscular atrophy type iii
MeSH terms: Activities of Daily Living, Spinal Muscular Atrophies of Childhood, Adolescent, Adult, Gait, Humans, Male, Muscles, Walking, Young Adult

Background: Despite the potential benefits, the effects of Hybrid Assistive Limb (HAL) gait training on changes in neuromuscular activation that accompany functional gains in individuals with spinal muscular atrophy (SMA) type III is not well known. In this article, we quantify the effects of HAL gait training on spatial muscle activity patterns in a patient with SMA type III using multi-channel surface electromyography (SEMG). Methods: A 21-years old male (168 cm, 47.8 kg) with spinal muscular atrophy type III, when diagnosed at 18-years old by genetic screening, participated in this case study. Although he presented with forearm distal muscle weakness, atrophy of the intrinsic muscles of the hand, and neuromuscular fatigue, his activities of daily living is independent. The patient underwent a separate, single 33-minute session of both HAL and treadmill gait training. To evaluate the coefficient of variation (CoV) of force and alterations in the SEMG spatial distribution patterns, modified entropy and CoV of root mean square (RMS) were calculated from the vastus lateralis (VL) muscle before and after the intervention of HAL and treadmill gait training. Each training session was separated by a period of one month to avoid cross-over effects. Results: There was a greater decrease in the ΔCoV of force and an increase in the magnitude of whole VL muscle activation from pre-intervention to post-intervention with the HAL gait training as compared to the treadmill gait training. In response to only HAL gait training, the CoV of RMS was higher, and the modified entropy was lower post-intervention than pre-intervention. Conclusions: Our results support the notion that HAL gait training has a positive benefit on motor output not only in the magnitude of SEMG generated but also the patterns of neural activation.
Bilateral Pulmonary Langerhans's Cell Histiocytosis is Surgical Challenge in Children: A Case Report
Authors: Tutku Soyer, Gül Özyüksel, Özlem Boybeyi Türer, Kübra Çakmakkaya, Sinan Yavuz, Bilgehan Yalçın, Diclehan Orhan, Ebru Yalçın, Deniz Doğru, Benan Bayrakçı, Nural Kiper, Canan Akyüz
Journal: European J Pediatr Surg Rep (2019)
Keywords: bilateral, children, pulmonary langerhans's cell histiocytosis
MeSH terms: Case Reports

Background Pulmonary Langerhans's cell histiocytosis (PLCH) is a rare cause of interstitial lung disease in children and more than half of the cases are bilateral. Persistent respiratory distress due to spontaneous pneumothorax (SP) in bilateral PLCH may refractory to conservative treatment and posed a great challenge to surgical modalities. A 3-year-old boy with SP due to bilateral PLCH is presented to discuss the surgical options of recurrent and refractory PLCH cases in children. Case Report The patient was admitted to the emergency department with severe respiratory distress and SP. After chest tube insertion, biopsy from neck mass revealed Langerhans's cell histiocytosis. Chemotherapy including vinblastine and prednisone was initiated. Due to persistent respiratory difficulty and air leaks, talc pleurodesis and thoracoscopic bullae excision with pleural decortication were performed. Two months after the admission, due to nosocomial infection and severe respiratory distress, extracorporeal membranous oxygenation (ECMO) support was initiated. The patient was died of ECMO complications on 24th day of ECMO. Conclusion Despite the use of chemotherapy and surgical excision of cystic lesions, bilateral PLCH in children may have lethal outcome. Other treatment options including respiratory support with ECMO and lung transplantation should be considered as last resort of treatment alternative in persistent cases.
Perineal endometriosis: a rare case of a unique sizeable nodule
Authors: Hana Hakim, Sawssan Ben Halima, Ahmed Zouari, Dora Trabelsi, Mohamed Derbel, Kais Chaabane, Sahbi Kebaili
Journal: Pan Afr Med J (2021)
Keywords: perineal, case report, endometriosis, sizeable, surgical
MeSH terms: Cicatrix / pathology, Endometriosis / diagnosis, Perineum / pathology, Case Reports, Adult, Endometriosis / pathology, Episiotomy / adverse effects, Female, Humans, Magnetic Resonance Imaging, Pain / etiology

Endometriosis is the presence of endometrial tissue in abnormal locations outside the uterine cavity. These locations are usually the ovaries, the peritoneum, and the uterine ligaments. Less frequently, the endometrial tissue can affect the perineum especially after surgical procedures or obstetric lesions. In this case report, we describe the case of a patient suffering from pain and swelling, with a sizeable nodule in an old episiotomy scar. Clinical examination, ultrasonography (USG) and magnetic resonance imaging (MRI) helped evoke the diagnosis of perineal endometriosis, and there were no signs of other endometriosis locations. Hormonal treatment was provided at first, but there was no clinical improvement after three months, so the treatment had to be surgical. Histopathological examination of the endometriotic mass confirmed the diagnosis. There were no immediate postoperative complications, and no clinical symptoms or recurrence signs six months and one year after.