OpenMed/multicare-articles huggingface dataset:
Hyperparathyroidism Jaw Tumor Syndrome Presenting as Recurrent Femur Fractures in a Young Woman; a Rare Presentation of a Rare Disease
Authors: Piyumi S A Wijewickrama, Noel P Somasundaram
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

Background:
Primary hyperparathyroidism usually occurs secondary to parathyroid adenoma, multiglandular hyperplasia, or parathyroid carcinoma. The patients usually present with incidentally discovered high calcium level and systemic or skeletal manifestations. In young patients with primary hyperparathyroidism, familial syndromes including multiple endocrine neoplasia types 1, 2, and 4 and hyperparathyroidism jaw tumor syndrome should be considered. Case Description. We present a case of a 22-year-old Sri Lankan woman who presented with femur fractures in a background of childhood nephroblastoma and maxillary fibro-osseous tumor. The patient had biochemical parameters suggestive of primary hyperparathyroidism with a parathyroid mass. The histology following excision of the mass revealed a parathyroid adenoma. Based on the associated clinical manifestations, hyperparathyroidism jaw tumor syndrome was suspected, and genetic studies reported a positive CDC73 mutation with a whole-gene deletion of exon 1-17.
Conclusion:
Hyperparathyroidism jaw tumor syndrome is an important diagnosis to consider in a young patient presenting with classic clinical features due to the risk of malignancy, familial involvement, and need to monitor for progressive systemic manifestations. As this is a rare disease, it can often be missed due to low degree of suspicion and the ability of the jaw tumor to mimic a metastatic deposit.
Early correction of malocclusion using planas direct tracks
Authors: Renata Reis Dos Santos, Artênio José Isper Garbin, Cléa Adas Saliba Garbin
Journal: Case Rep Dent (2013)

The correction of functional posterior crossbite through Planas Direct Tracks has many characteristics that can become advantages. The aim of this study was to present a clinical case showing how to use this procedure for early correction with resources available through public health services. The patient, a 4-year-old girl, arrived to receive treatment due to a functional unilateral crossbite. When the mandible was moved to the centric position, it was observed that the teeth had occlusal trauma. An occlusal adjustment was performed. The adjustment was not sufficient to promote functional equilibrium; thus, Planas Direct Tracks were made, resulting in functional equilibrium and correction of the malocclusion. As shown in the case report, the Planas Direct Tracks were effective for the correction of the posterior crossbite. If malocclusion is considered a public health problem, implementation of low-cost and easy-to-execute techniques is needed.
Dirty electricity elevates blood sugar among electrically sensitive diabetics and may explain brittle diabetes
Authors: Magda Havas
Journal: Electromagn Biol Med (2008)
MeSH terms: Blood Glucose / analysis, Blood Glucose / radiation effects, Diabetes Mellitus, Type 1 / metabolism, Electricity, Environmental Pollution, Case Reports, Aged, 80 and over, Child, Female, Humans, Male, Middle Aged, Radiation Dosage, Blood Glucose

Transient electromagnetic fields (dirty electricity), in the kilohertz range on electrical wiring, may be contributing to elevated blood sugar levels among diabetics and pre-diabetics. By closely following plasma glucose levels in four Type 1 and Type 2 diabetics, we find that they responded directly to the amount of dirty electricity in their environment. In an electromagnetically clean environment, Type 1 diabetics require less insulin and Type 2 diabetics have lower levels of plasma glucose. Dirty electricity, generated by electronic equipment and wireless devices, is ubiquitous in the environment. Exercise on a treadmill, which produces dirty electricity, increases plasma glucose. These findings may explain why brittle diabetics have difficulty regulating blood sugar. Based on estimates of people who suffer from symptoms of electrical hypersensitivity (3-35%), as many as 5-60 million diabetics worldwide may be affected. Exposure to electromagnetic pollution in its various forms may account for higher plasma glucose levels and may contribute to the misdiagnosis of diabetes. Reducing exposure to electromagnetic pollution by avoidance or with specially designed GS filters may enable some diabetics to better regulate their blood sugar with less medication and borderline or pre-diabetics to remain non diabetic longer.
A case of thymoma in myasthenia gravis: Successful outcome after thymectomy
Authors: S Dahal, N Bhandari, P Dhakal, R M Karmacharya, A K Singh, S M Tuladhar, M Devbhandari
Journal: Int J Surg Case Rep (2019)
Keywords: case report, myasthenia gravis, nepal, thymectomy, thymoma

Introduction:
Thymic abnormalities occur as hyperplasia and thymoma. Myasthenia gravis is commonly present in thymoma. Thymectomy possesses risk due to anatomical proximity with vital thoracic structures and myasthenia crisis.
Presentation of case:
Forty five years female with complaints of difficulty swallowing and weakness of upper limb muscles upon investigation showed mass in mediastinum and antibody test for myasthenia gravis positive. Medical management was done for a month followed by thymectomy. There were no intra and postoperative complications. Medical management was stopped one month after surgery and she is symptom free.
Discussion:
Thymectomy is the standard of care where median sternotomy is the mainstay approach to surgery. Various other surgical approaches and complications revolving around surgery has been discussed.
Conclusion:
Surgical removal of thymoma cured myasthenia gravis in our case. We focused on proper preoperative optimization of myasthenia gravis symptoms before thymectomy.
Infective endocarditis due to Haemophilus sputorum
Authors: Varea H Costello, Sara L Robinson, Seth Klusewitz, Guy Surpris, Md Nahid, Michael G Backlund
Journal: Access Microbiol (2022)
Keywords: hacek, haemophilus, pasteurellaceae, endocarditis
MeSH terms: Case Reports

Introduction:

Haemophilus species are gram-negative, non-motile, facultative anaerobic coccobacilli in the larger family of Pasteurellaceae . Implicated in a variety of human diseases, Haemophilus species are also included in the 'HACEK' group of organisms, which are fastidious gram-negative bacteria, a well-described but uncommon cause of endocarditis. Among the Haemophilus species responsible for endocarditis, Haemophilus parainfluenzae is the most frequently isolated. However, novel species of Haemophilus have recently been described, and their clinical significance remains uncertain.
Case presentation:
A 35-year-old man was admitted to the hospital after presenting with a 3 month history of nightly fevers, night sweats and unintentional weight loss, with a new murmur detected on cardiac auscultation. Blood cultures returned positive for Haemophilus sputorum identified by matrix assisted laser desorption ionization - time of flight MS, and confirmed with whole genome sequencing. Echocardiography revealed the presence of an aortic valve vegetation, with aortic and mitral valve leaflet perforations. He was successfully treated with surgical bioprosthetic valve replacements and pathogen-directed antibiotics without complications.
Conclusion:
We describe a case of infective endocarditis due to H. sputorum , a newly identified Haemophilus species, which to the best of our knowledge has yet to be reported, and discuss the available literature regarding this organism.
Case Report: Ipilimumab-Induced Panhypophysitis: An Infrequent Occurrence and Literature Review
Authors: Agnese Barnabei, Silvia Carpano, Alfonsina Chiefari, Marta Bianchini, Rosa Lauretta, Marilda Mormando, Guilia Puliani, Giancarlo Paoletti, Marialuisa Appetecchia, Francesco Torino
Journal: Front Oncol (2020)
Keywords: diabetes insipidus, hypophysitis, immune checkpoint inhibitors, ipilimumab, panhypophysitis
MeSH terms: Case Reports

Background:
Immune checkpoint inhibitors (ICIs), by unleashing the anticancer response of the immune system, can improve survival of patients affected by several malignancies, but may trigger a broad spectrum of adverse events, including autoimmune hypophysitis. ICI-related hypophysitis mainly manifests with anterior hypopituitarism, while the simultaneous involvement of both anterior and posterior pituitary (i.e., panhypophysitis) has rarely been described.
Case presentation:
In June 2015, a 64-year-old man affected by liver metastases of a uveal melanoma was referred to us due to polyuria and polydipsia. Two months prior, he had started ipilimumab therapy (3 mg/kg iv every 21 days). The treatment was well-tolerated (only mild asthenia and diarrhea were reported). A few days before the fourth cycle, the patient complained of intense headaches, profound fatigue, nocturia, polyuria (up to 10 L urine/daily), and polydipsia. Laboratory tests were consistent with adrenal insufficiency, hypothyroidism, and transient central diabetes insipidus. The pituitary MRI showed an enlarged gland with microinfarcts, while the hypophyseal stalk was normal, and the neurohypophyseal 'bright signal' in T1 sequences was not detected. The treatment included dexamethasone (then cortisone acetate at replacement dose), desmopressin, and levothyroxine. Within the next five days, the symptoms resolved, and blood pressure, electrolytes, glucose, and urinalysis were stable within the normal ranges; desmopressin was discontinued while cortisone acetate and levothyroxine were maintained. The fourth ipilimumab dose was entirely administered in the absence of further side effects.
Conclusion:
As ICIs are increasingly used as anticancer agents, the damage to anterior and/or posterior pituitary can be progressively encountered by oncologists and endocrinologists in their clinical practice. Patients on ICIs and their caregivers should be informed about that risk and be empowered to alert the referring specialists early, at the onset of panhypopituitarism symptoms, including polyuria/polydipsia.
Wedged gel pad for bowel manipulation during MR-guided high-intensity focused ultrasound therapy to treat uterine fibroids: a case report
Authors: Teija Sainio, Gaber Komar, Jani Saunavaara, Visa Suomi, Kirsi Joronen, Antti Perheentupa, Antti Viitala, Roberto Blanco Sequeiros
Journal: J Ther Ultrasound (2018)
Keywords: bowel repositioning, gel pad, mr-guided high-intensity focused ultrasound, uterine fibroid

Background:
Magnetic resonance guided high-intensity focused ultrasound (MR-HIFU) therapy is not feasible in all patients with uterine fibroids because of limiting anatomical factors such as scar tissue, bowel loops or other obstacles in the sonication path. These may prevent the treatment or limit the treatment window, and therefore, also the volume where HIFU therapy can be delivered. Bowel loops present a particular problem because of bowel gas bubbles and hard particles which may cause reflection or absorption of ultrasound energy, potentially leading to thermal damage and even bowel perforation. Most commonly used techniques for bowel repositioning are bladder and/or rectum filling but these are not always sufficient to reposition the bowel loops. With more efficient bowel repositioning technique, the number of eligible patients for MR-HIFU treatment could be increased, and therapy efficacy be improved in cases where bowel loops limit the treatment window.
Case presentation:
A wedged exterior gel pad was used in two patients presented with in total of four symptomatic fibroids undergoing MR-HIFU treatment when bladder and/or rectum filling was not sufficient to reposition the bowel loops. No severe adverse effects were observed in these cases. The non-perfused volume ratios (NPVs) immediately after treatment were 86% and 39% for the first patient, and 3% for the second patient.
Conclusions:
Our preliminary experience suggests that the use of a wedged gel pad during MR-HIFU treatment could be an effective tool to manipulate the bowels in cases where the bladder and/or rectum filling is not sufficient to reposition the bowel loops. A wedged gel pad could also be used in other situations to achieve better treatment coverage to the uterine fibroid.
Multiple telescoping flow diverter technique in endovascular treatment of a vertebrobasilar dissecting aneurysm: case report
Authors: Ming-Yi Wang, Yong-Sheng Liu, Xiang-Bo An, Tao Pan, Feng Wang
Journal: Front Neurol (2023)
Keywords: aneurysm, dissecting, flow diverter, telescoping technique, vertebrobasilar
MeSH terms: Case Reports

A 64-year-old man presented with headache and dizziness. A vertebrobasilar dissecting aneurysm was identified via computed tomography angiography and high resolution magnetic resonance imaging. Perioperatively, standard oral dual antiplatelet drugs were given. Two flow diverters were telespcoped for endovascular treatment of the aneurysm. Postoperatively, there were no signs of cerebral infarction and no new symptoms. At the 6-month follow-up, digital subtraction angiography showed that the aneurysm was almost completely occluded, with no other complications. This case serves as a reference for using the multiple telescoping flow diverter technique to treat vertebrobasilar dissecting aneurysm.
Case Report: Gastric Mucormycosis- a rare but important differential diagnosis of upper gastrointestinal bleeding in an area of Helicobacter pylori endemicity
Authors: Sudeep Adhikari, Ajaya Raj Gautam, Buddhi Paudyal, Keshav Raj Sigdel, Buddha Basnyat
Journal: Wellcome Open Res (2019)
Keywords: gastric mucormycosis, helicobacter pylori, mucormycosis, peptic ulcer disease, upper gastrointestinal disease
MeSH terms: Case Reports

A 57 years female from the hills of Nepal presented with upper gastrointestinal bleeding with gastric ulcer evident on endoscopy. Though initially treated with Helicobacter pylori ( H. pylori) eradication therapy alone, biopsy later on revealed both mucormycosis and H. pylori infection. She was then treated with antifungals liposomal amphotericin B followed by posaconazole which led to complete recovery. Mucormycosis is a rare but life-threatening fungal disease of immunocompromised host though our patient was immunocompetent. If recognized and treated at early stage, as in our patient, prognosis is good. A high index of suspicion is required for considering this disease in H. pylori endemic regions such as Nepal, and is crucial for early recognition and treatment.
Transferring embryos with indeterminate PGD results: the ethical implications
Authors: Iris G Insogna, Elizabeth Ginsburg
Journal: Fertil Res Pract (2016)
Keywords: ethics, pre-implantation genetic diagnosis, reproductive ethics
MeSH terms: Case Reports

Background:
In vitro fertilization (IVF) and pre-implantation genetic diagnosis (PGD) are becoming increasingly common techniques to select embryos that are unaffected by a known genetic disorder. Though IVF-PGD has high success rates, 7.5 % of blastocysts have inconclusive results after testing. A recent case involving a known BRCA-1 carrier was brought before our Assisted Reproductive Technology Ethics Committee in order to gain a better appreciation for the ethical implications surrounding the transfer of embryos with indeterminate testing.
The case presentation:
Thirty-nine year old G0 BRCA-1 carrier requiring IVF for male factor infertility. The couple elected for PGD to select against BRCA-1 gene carrier embryos. However, several embryos were returned with inconclusive results. The couple wished to proceed with the transfer of embryos with an unknown carrier status. The case was presented before our Assisted Reproductive Technology Ethics Committee.
Conclusion:
Many considerations were explored, including the physician's duty to protect patient autonomy, the physician's duty to act in the best interest of the future child, and the physician's duty towards society. Transferring both embryos with unknown carrier status and known-carrier status was debated. Ultimately, the transfer of inconclusive embryos was felt to be ethically permissible in most cases if patients had been adequately counseled. However, the re-biopsy of embryos with inconclusive testing results was encouraged. The transfer of known-carrier embryos was felt to be unethical for certain disease-states, depending on the severity of illness and timing of disease onset. We strongly encourage physicians to create an action plan in advance with their patients, prior to testing, in the event that embryos are returned with inconclusive PGD results. The committee's decision, though helpful in guiding practice, should not overshadow the individual physician-patient relationship, and the need for thorough counseling.
Intractable parastomal bleeding in a portal hypertensive patient managed by direct sclerotherapy: a case report
Authors: Niloofar Ayoobi Yazdi, Najmeh Aletaha, Mohammad-Mehdi Mehrabinejad, Ali Zare Dehnavi, Hadi Rokni Yazdi
Journal: Gastroenterol Hepatol Bed Bench (2020)
Keywords: gastrointestinal hemorrhage, sclerotherapy, transjugular intrahepatic portosystemic shunt
MeSH terms: Case Reports

Patients with a stoma have 5% chance of developing parastomal varices, which tend to repetitive massive and life-threatening hemorrhages. Treatment of choice in parastomal varices have not been established, while Transjugular Intrahepatic Portosystemic Shunt (TIPS) has been revealed as the most successful measure. We report a hemodynamically unstable patient with a history of Ulcerative Colitis (UC) and Primary Sclerosing Cholangitis (PSC) with colostomy, because of colon cancer who presented with massive parastomal bleeding. Non-operative treatments and TIPS failed to control the symptoms. Color Doppler ultrasound showed a hepato-fugal flow. The direct antegrade technique, using Sodium Tetradecyl Sulfate (STS 1%) and glue-Lipiodol, was applied under ultrasonography guidance, and complete stoppage of bleeding was achieved. No immediate or late complication or follow-up recurrence were noted after 8 months. In case of hepatofugal flow, direct percutaneous mesenteric parastomal venous access and sclerotherapy is a rapid and relatively safe procedure for parastomal variceal bleeding.
Splanchnic vein thrombosis, the onset manifestation in JAK positive Chronic Myeloproliferative Disorders Neoplasms
Authors: A M Vladareanu, V Popov, H Bumbea, M Onisai, A Ilea, C Dobrea, M Miulescu
Journal: J Med Life (2011)
Keywords: jak positive, chronic myeloproliferative disorders, portal thrombosis
MeSH terms: Budd-Chiari Syndrome / etiology, Myeloproliferative Disorders / complications, Portal Vein, Case Reports, Adult, Humans, Janus Kinase 2 / genetics, Male, Middle Aged, Myeloproliferative Disorders / genetics, JAK2 protein, human, Janus Kinase 2

Background:
Patients with Myeloproliferative Neoplasms-(MPN) have a high risk of thrombotic complications. Portal vein thrombosis is a severe complication, which in many cases, appears at the onset of the disease; the risk factors are related to the presence of qualitatively altered thrombocytes and leucocytes, leading to their activation and appearance of leukocytes-platelet-aggregates; anomalies of portal vein endothelial cells are also implicated. The presence of JAK2V617F mutation increases the risk for splahnic thrombosis.
Methods and results:
We present three patients with portal vein thrombosis and Budd Chiari syndrome, who were further diagnosed with MPN-the thrombosis was the onset event of the disease.
Conclusion:
Patients were diagnosed with thrombosis of the portal vein before being diagnosed with MPN. Splenectomy was not associated with risk of thrombosis for the two cases in which it was performed; for one case, splenectomy was a therapeutic method to resolve portal hypertension. All patients had homozygous JAK2 mutation, which is associated in recent studies with increased risk of portal, mesenteric thrombosis. The high number of platelet was difficult to control for all patients. Bone marrow biopsy and determination of JAK status are valuable investigations for patients who have splenoportal thrombosis, with no apparent identifiable cause.
Autism spectrum disorder in a girl with a de novo x;19 balanced translocation
Authors: Marcelo Razera Baruffi, Deise Helena de Souza, Rosana Aparecida Bicudo da Silva, Ester Silveira Ramos, Danilo Moretti-Ferreira
Journal: Case Rep Genet (2012)
MeSH terms: Case Reports

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.
Classic ketogenic diet in parenteral nutrition in a GLUT1DS patient: Doing more with less in an acute surgical setting
Authors: Valentina De Giorgis, Cinzia Ferraris, Mario Leo Brena, Giorgio Farris, Valerio Gentilino, Monica Guglielmetti, Claudia Marazzi, Ludovica Pasca, Claudia Trentani, Anna Tagliabue, Costanza Varesio
Journal: Front Nutr (2023)
Keywords: glut1 deficiency syndrome, appendicitis, classic ketogenic diet, ketone bodies, parenteral nutrition, surgery
MeSH terms: Case Reports

Ketogenic Dietary Treatments (KDTs) are to date the gold-standard treatment for glucose transporter type 1 (GLUT1) deficiency syndrome. Administration of KDTs is generally per os; however, in some conditions including the acute gastro-enteric post-surgical setting, short-term parenteral (PN) administration might be needed. We report the case of a 14-year-old GLUT1DS patient, following classic KDT for many years, who underwent urgent laparoscopic appendectomy. PN-KDT was required, after 1 day of fasting. No ad hoc PN-KDTs products were available and the patient received infusions of OLIMEL N4 (Baxter). On the sixth day postoperatively enteral nutrition was progressively reintroduced. The outcome was optimal with rapid recovery and no exacerbation of neurological manifestations. Our patient is the first pediatric patient with GLUT1DS in chronic treatment with KDT efficiently treated with exclusive PN for five days. This case reports on real-word management and the ideal recommendations for PN-KDT in an acute surgical setting.