OpenMed/multicare-articles huggingface dataset:
Predicting carer health effects for use in economic evaluation
Authors: Hareth Al-Janabi, Andrea Manca, Joanna Coast
Journal: PLoS One (2017)
MeSH terms: Caregivers, Economics, Family, Health Status, Humans, Meningitis / nursing

Background:
Illnesses and interventions can affect the health status of family carers in addition to patients. However economic evaluation studies rarely incorporate data on health status of carers.
Objectives:
We investigated whether changes in carer health status could be 'predicted' from the health data of those they provide care to (patients), as a means of incorporating carer outcomes in economic evaluation.
Methods:
We used a case study of the family impact of meningitis, with 497 carer-patient dyads surveyed at two points. We used regression models to analyse changes in carers' health status, to derive predictive algorithms based on variables relating to the patient. We evaluated the predictive accuracy of different models using standard model fit criteria.
Results:
It was feasible to estimate models to predict changes in carers' health status. However, the predictions generated in an external testing sample were poorly correlated with the observed changes in individual carers' health status. When aggregated, predictions provided some indication of the observed health changes for groups of carers.
Conclusions:
At present, a 'one-size-fits-all' predictive model of carer outcomes does not appear possible and further research aimed to identify predictors of carer's health status from (readily available) patient data is recommended. In the meanwhile, it may be better to encourage the targeted collection of carer data in primary research to enable carer outcomes to be better reflected in economic evaluation.
Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis
Authors: Catarina Matos Figueiredo, Inês Falcão, Joana Vilaverde, Joana Freitas, Maria João Oliveira, Cristina Godinho, Jorge Dores, Maria Céu Rodrigues, Carmen Carvalho, Teresa Borges
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Magnetic resonance was suggestive of goiter causing airway deviation without polyhydramnios. Maternal thyroid function was normal and thyroid antibodies were negative. Two intra-amniotic levothyroxine infusions were performed at 32 and 33 weeks. Serial imaging control showed no progression of the mass. Elective caesarean section was performed at 38 weeks. The male newborn was admitted to the intensive care unit due to cardiorespiratory insufficiency with pulmonary hypertension. Hormonal assays revealed primary congenital hypothyroidism and ultrasonography confirmed diffuse goiter. Levothyroxine was started. Currently, he is 6 years old with adequate growth and normal psychomotor development. Genetic study found a heterozygous mutation in the TPO gene.
Giant Protruding High-Grade Undifferentiated Pleomorphic Sarcoma Arising in a Keloid Scar on the Abdominal Wall
Authors: Hideyuki Kinoshita, Toshinori Tsukanishi, Takeshi Ishii, Hiroto Kamoda, Yoko Hagiwara, Sumihisa Orita, Kazuhide Inage, Naoya Hirosawa, Seiji Ohtori, Tsukasa Yonemoto
Journal: Case Rep Dermatol Med (2020)
MeSH terms: Case Reports

Undifferentiated pleomorphic sarcoma (UPS) is a high-grade, aggressive, soft tissue sarcoma that is often fatal. Although there are reports describing associations of sarcoma and skin lesions such as burns, radiation, and trauma, to our knowledge, UPS development in a keloid scar has not been reported. Herein, we present the case of a 76-year-old woman who had undergone surgery for endometrial cancer, 5 years before. She presented with a protruding lesion that was continuous to a keloid scar on the abdominal wall. The tumor appeared clinically malignant as it was protruding and doubled in size within three weeks, reaching approximately 6 × 6 × 2 cm. Since the tumor was diagnosed as UPS after pathological evaluation by needle biopsy, wide resection was performed. Intraoperatively, the tumor was apparently continuous to the keloid, protruding and pedunculated outside the body, and had not invaded the abdominal cavity. Histopathological examination of the resected tumor showed evidence of UPS and no suspicion of metastasis of endometrial cancer. No recurrence, metastases, or other complications were noted 6 months after surgery. The current case study reminds us that keloids may cause high-grade sarcoma such as UPS, and careful follow-up is required.
Surgical correction in orbitotemporal neurofibromatosis with dystopia
Authors: Matthew Seung Suk Choi, Seung Hyup Choi, Jang Hyun Lee
Journal: BMC Ophthalmol (2016)
MeSH terms: Blepharoptosis / surgery, Craniofacial Abnormalities / surgery, Neurofibroma / surgery, Ophthalmologic Surgical Procedures, Orbital Neoplasms / surgery, Sphenoid Bone / abnormalities, Case Reports, Adult, Craniofacial Abnormalities / diagnostic imaging, Humans, Male, Neurofibroma / diagnostic imaging, Oculomotor Muscles / surgery, Orbital Neoplasms / diagnostic imaging, Sphenoid Bone / diagnostic imaging, Tomography, X-Ray Computed

Background:
Orbitotemporal neurofibromatosis is a challenging disease for orbital surgeons. Ptosis correction may be needed following correction of orbital dystopia.
Case presentation:
A 34-year-old man, who underwent excision of a neurofibroma on the right eyelid in our clinic, returned to our clinic four years later complaining of dystopia and bulkiness of the protruding mass in the right eyelid and eyebrow. Computed tomographic imaging showed dysplasia and deformity in the sphenoid bone and orbit. A large mass was found in the superior portion of the orbit, protruding towards the temporal lobe, which in turn displaced the orbit downwards. A bicoronary incision and transcranial approach were performed, followed by the excision of the superior orbital space and temporal lobe mass by uncovering certain portions of the frontal, temporal, and zygomatic bones. After the excision of the mass, a calvarial bone graft was used to remodel the longitudinal widened orbit to correct the dystopia. While primary surgery was successful in the correction of dystopia, secondary surgery was performed to correct the exacerbated ptosis by levator muscle resection.
Conclusions:
Correction of orbitotemporal neurofibromatosis with dystopia involves three steps: removal of the mass in the orbit to eliminate the effect of downward dislocation of the orbit, placement of a bone graft in the orbit floor after repositioning the orbit for suspension and remodeling of the orbit, and following the correction of dystopia, ptosis may be corrected if needed.
Case Report: A Clinical and Genetic Analysis of Childhood Growth Hormone Deficiency With Familial Hypercholesterolemia
Authors: Shengmin Yang, Xiaoan Ke, Hanting Liang, Ran Li, Huijuan Zhu
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: gh, igf-1, ldl-c, familial hypercholesterolemia, growth hormone deficiency
MeSH terms: Cholesterol / blood, Human Growth Hormone / deficiency, Hyperlipoproteinemia Type II / blood, Hyperlipoproteinemia Type II / genetics, Case Reports, Research Support, Non-U.S. Gov't, Review, Child, Child, Preschool, Female, Human Growth Hormone / blood, Humans, Male, Human Growth Hormone, Cholesterol

Background:
Growth hormone deficiency (GHD) is a developmental disorder in children characterized by low growth hormone (GH), short stature and unfavorable lipid profiles. Familial hypercholesteremia (FH) is an inborn disorder of low-density lipoprotein cholesterol (LDL-C) metabolism which results in premature cardiovascular events. The co-occurrence of GHD and FH, which may aggravate the hypercholesteremic condition in the affected individuals, had rarely been discussed in previous publication.
Methods:
This work reports two cases of GHD with FH, and explores the lipid profiles of GHD children and their therapeutic response to recombinant human growth hormone (rhGH). The diagnosis of GHD is based on low peak GH level (<7 ng/mL) in GH provocation test. FH is diagnosed by high LDL-C level (≥ 4 mmol/L) and confirmed genetic mutations in the LDL-C metabolic pathway. We also searched all previously published metabolic studies on GHD children as of December 31, 2020. Information on their LDL-C, duration and dose of rhGH treatment were retrieved and summarized.
Results:
The first case was a 5.3 year-old boy. His height was 103.6 cm (SDS = -2.29) and his peak GH in provocative test was 6.37 ng/mL. Additionally, his LDL-C was 4.80 mmol/L and he harbored a heterozygous mutation for the apolipoprotein B (APOB) gene (c.10579 C > T). The second case was a 9-year-old girl at the height of 117.3 cm (SDS = -2.91). Her GH peaked at 4.99 ng/mL in insulin-induced hypoglycemic test and 2.80 ng/mL in L-dopa test. Her LDL-C was 6.16 mmol/L, and she carried a mutated copy of the low-density lipoprotein receptor (LDLR) gene (c.809 G > A). Literature review indicated that GHD children suffered from higher baseline LDL-C, but it was significantly reduced after rhGH treatment.
Conclusions:
FH should be considered if a GHD child has remarkably elevated LDL-C that cannot be attributed to low GH level alone. Genetic mutations in the LDL-C metabolic pathway prevent the body from effectively metabolizing lipids, thereby resulting in early-onset hypercholesteremia and probably playing a negative role in children's growth.
Posterior mediastinal arteriovenous malformation: A rare catch
Authors: Pavneet Kohli, Prasanth Penumadu, Sagnik Ray, Rajesh Nachiappa Ganesh
Journal: J Cardiovasc Thorac Res (2022)
Keywords: avm, masquerader, posterior mediastinal tumours, robot excision
MeSH terms: Case Reports

An arteriovenous malformation (AVM) is a very rare differential diagnosis of a posterior Mediastinum mass. We report a patient with an AVM mimicking a mediastinal tumour and describe the radiological, pathological findings and the treatment options.
Common B-cell acute lymphoblastic leukaemia in a 70-year-old woman presenting 2 years after carboplatin-taxane radiotherapy for endometrial cancer
Authors: Nigel P Murray, Shenda Orrego, Marco Antonio López, Lorena Munoz, Simona Minzer
Journal: Ecancermedicalscience (2019)
Keywords: carboplatin, endometrial cancer, paclitaxel, therapy-related acute lymphoblastic leukaemia
MeSH terms: Case Reports

Therapy-related acute lymphoblastic leukaemia (t-ALL) is a poorly defined entity and is not featured in the World Health Organization classification as a distinct clinical entity from acute lymphoblastic leukaemia (ALL), thus differing from therapy-related acute myeloid leukaemia and myelodysplasia. We present a case of t-ALL occurring 18 months after treatment for metastatic endometrial cancer with a regimen of carboplatin, paclitaxel and radiotherapy. The patient presented with severe pancytopenia and diagnosed with common-B ALL, and the cytogenetic analysis showed a previously unreported deletion in chromosome 19 (q13.1) in 100% of the blast cells. The patient declined further therapy and died 1 month later. This rare but serious side effect of chemo-radiotherapy should be considered when deciding on treatment options for gynaecological cancers.
Three-Alarm System: Revisited to treat Thumb-sucking Habit
Authors: Raghavendra M Shetty, Manoj Shetty, N Shridhar Shetty, Anushka Deoghare
Journal: Int J Clin Pediatr Dent (2015)
Keywords: finger sucking, rurs’ elbow guard, three-alarm system, thumb sucking
MeSH terms: Case Reports

Thumb and digit-sucking habits or non-nutritive sucking are considered to be the most prevalent among oral habits. Most children stop thumb sucking on their own. If the habit continues beyond 3 to 4 years of age, it not only affects the dental occlusion, but the shape of the thumb/digit may be altered as well. This article presents the management of thumb sucking by modified RURS, elbow guard incorporated with revised 'three-alarm' system. How to cite this article: Shetty RM, Shetty M, Shetty NS, Deoghare A. Three-Alarm System: Revisited to treat Thumb-sucking Habit. Int J Clin Pediatr Dent 2015;8(1):82-86.
Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia Caused by a p.Thr666Met CACNA1A Gene Mutation in a Chinese Family
Authors: Mengmeng Li, Xiangyu Zheng, Rui Zhong, Qian Zhao, Yingxue Lu, Zan Wang, Weihong Lin
Journal: Front Neurol (2019)
Keywords: cacna1a gene, encephalopathy, familial hemiplegic migraine, genetic, migraine
MeSH terms: Case Reports

Here, we describe the first case of familial hemiplegic migraine type 1 (FHM1) resulting from a T666M mutation in the CACNA1A gene of a Chinese individual. A 54-year-old female patient demonstrated extensive clinical manifestations, including transient paropsia, hemianesthesia, logaphasia, hemiplegia, migraine, fever, impaired consciousness, and progressive cerebellar ataxia. At admission, neurological examination showed a fever of 38.6°C, coma, bilateral pupillary constriction, left-sided deviation of both eyes, meningeal irritation, and bilateral positive Chaddock's sign. Brain magnetic resonance imaging (MRI) displayed only cerebellar atrophy. The pressure and white blood cells of the cerebrospinal fluid (CSF) were elevated. Her nine relatives also had similar clinical spectra. To further clarify the diagnosis, we conducted a genetic analysis on the family. The results of genetic testing showed that all seven living affected members carried the T666M mutation in the CACNA1A gene. This case report indicates that the diagnosis of FHM should be taken into account when a patient manifests migraine accompanied with hemiplegia, acute encephalopathy, and abnormal CSF. In addition, genetic testing is indispensable for the identification of some atypical attacks of hemiplegic migraine.
Eccrine Nevus Presenting with Umbilical Discharge: A Case Report and Review of the Literature
Authors: Farahnaz Bidari-Zerehpoosh, Shahram Sabeti, Farid Arman, Hania Shakeri
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Eccrine nevus is a rare skin lesion with protean manifestations like hyperhidrosis, discolored nodules, papules, and so forth, which has been reported in various anatomic parts of the body including the forearm, leg, thigh, back, and coccyx. Our patient was a 26-year-old male, who presented with increasing colorless and odorless episodic umbilical discharge. First impression for the patient was an umbilical sinus and the patient underwent surgery. Histopathological study revealed the lesion to be an eccrine nevus of the umbilicus. This is the first case of eccrine nevus presenting with umbilical discharge. We recommend that eccrine nevus should be considered as a differential diagnosis for umbilical discharge.
The independent right and left azygos veins with hemiazygos absence: a rare case presentation
Authors: Suat Keskin, Zeynep Keskin, Nevin Sekmenli
Journal: Case Rep Vasc Med (2013)

The veins of the azygos system vary greatly in mode of origin, course, numbers of tributaries and anastomoses, and nature of termination. The azygos vein system can take different courses. Such variation is important in mediastinal surgery, and knowledge of congenital variations can be of clinical importance. It is imperative for reporting radiologists to identify such anomalies.
Pure Laparoscopic Left Hepatectomy for Regrowth of Mucinous Cystic Neoplasm of the Liver after Laparoscopic Deroofing
Authors: Hideki Kumagai, Akira Umemura, Hiroyuki Nitta, Hirokatsu Katagiri, Shoji Kanno, Daiki Takeda, Satoshi Amano, Koji Kikuchi, Kiyoharu Takashimizu, Masao Nishiya, Noriyuki Uesugi, Tamotsu Sugai, Akira Sasaki
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Background:
Hepatic cystic lesions are common entities, most of which are simple hepatic cysts (SHCs). Mucinous cystic neoplasm of the liver (MCN-L) is a rare tumor characterized by ovarian-like stroma and accounts for <5% of all hepatic cysts. Distinguishing between SHCs and MCN-L is challenging because of the similarity in their imaging findings. Herein, we report a rare regrowth case of MCN-L after laparoscopic deroofing, treated with pure laparoscopic left hepatectomy. Case Presentation. A 63-year-old woman with a large hepatic cystic lesion and abdominal pain was referred to our hospital for surgical treatment. Computed tomography (CT) showed cystic lesions with septations arising from macrolobulations in the left medial segment. She underwent laparoscopic deroofing based on the diagnosis of SHCs; however, the final histopathological diagnosis was MCN-L. She chose observational follow-up, and MCN-L regrowth was detected on follow-up CT 6 months after the laparoscopic deroofing. We performed pure laparoscopic left hepatectomy for complete resection of the MCN-L. She had an uneventful postoperative course and no recurrence at the 5-year follow-up after the radical resection of the MCN-L.
Conclusion:
MCN-L is a rare entity, and accurate diagnosis with imaging modalities is greatly challenging. Laparoscopic hepatectomy for MCN-L should be considered as a strong alternative to secure safety and curability.
Naxos disease in two siblings
Authors: G Meera, D Prabhavathy, S Jayakumar, Gk Tharini
Journal: Int J Trichology (2010)
Keywords: consanguinity, striate palmoplantar keratoderma, woolly hair
MeSH terms: Case Reports

Naxos disease is a rare cardiocutaneous disorder characterized by palmoplantar keratoderma, woolly hair and arrythmogenic right ventricular cardiomyopathy. We report two siblings with Naxos disease with right middle lobe syndrome in one of them.
Urinary Catheter Colonization by Multidrug-Resistant Cedecea neteri in Patient with Benign Prostatic Hyperplasia
Authors: Peter S Ginn, Serina B Tart, Stephen M Sharkady, Dorothea K Thompson
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Cedecea neteri, a member of the Enterobacteriaceae family, has only been identified as a human pathogen in a few previous clinical cases, thus complicating assessment of this organism's pathogenicity and medical relevance. Documented infections attributed to C. neteri primarily involved bacteremia in severely immunocompromised patients. We report a rare case of urinary catheter colonization by a multidrug-resistant C. neteri strain in a patient of advanced age with benign prostatic hyperplasia and other chronic comorbidities. This C. neteri isolate was resistant or intermediate to second-generation cephalosporins, penicillins, and certain β-lactamase inhibitor/β-lactam combinations. Analysis of whole genome sequence information for a representative C. neteri strain indicated the presence of multiple open reading frames with sequence similarity to β-lactamases, including a chromosome-encoded AmpC β-lactamase and metallo-β-lactamases, consistent with the resistance phenotype of this bacterium. The presence of an AmpR homolog suggests that the C. neteriampC may be inducible in response to β-lactam exposure. Molecular insights into antibiotic resistance traits of this emerging opportunistic pathogen will be important for administering adequate antibiotic treatment to ensure favorable patient outcomes.
Heart Transplantation in a Toddler with Cardiac Kawasaki Disease
Authors: Theodor Tirilomis, Michael Steinmetz, Marius Grossmann, Anselm Bräuer, Thomas Paul, Wolfgang Ruschewski, Friedrich A Schöndube
Journal: Front Surg (2017)
Keywords: kawasaki disease, coronary aneurysm, coronary artery, heart transplantation, ischemia, myocardial infarction
MeSH terms: Case Reports

Kawasaki disease is very rare in Western Europe. The disease may involve coronary arteries. A 2-year-old boy diagnosed with Kawasaki disease had had seizure-like symptoms. Further evaluation revealed recurrent myocardial ischemia and myocardial infarction. Due to extraordinary extension of the coronary disease, myocardial revascularization was not feasible and the toddler underwent successful heart transplantation after 97 days on waiting list.
Pituitary Hyperplasia in Severe Primary Hypothyroidism: A Case Report and Review of the Literature
Authors: Prateek Shukla, Ketan R Bulsara, Pooja Luthra
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Pituitary hyperplasia is commonly present but remains largely undiagnosed in primary hypothyroidism. It is easily reversible with thyroid replacement therapy. If imaging is performed prior to biochemical evaluation, then patients may undergo pituitary surgery. We present the case of a 34-year-old female with profound primary hypothyroidism and secondary pituitary hyperplasia that resolved after thyroid hormone supplementation. We will discuss the current literature regarding pituitary hyperplasia in primary hypothyroidism in adults.
Effect of tonsillectomy in a child with obesity and obstructive sleep apnea: A case report and review of the literature
Authors: Paola Di Filippo, Greta Orlandi, Giampiero Neri, Sabrina Di Pillo, Francesco Chiarelli, Nadia Rossi, Marina Attanasi
Journal: Front Pediatr (2023)
Keywords: osa (obstructive sleep apnea), adenotonsilar hypertrophy, obesity, sleep disturbance, sleep-disordered breathing (obstructive/central sleep apnea), tonsillectomy
MeSH terms: Case Reports

Obstructive sleep apnea (OSA) is an increasingly recognized disorder in children. Adenotonsillectomy is the primary surgical treatment for OSA in children with adenotonsillar hypertrophy (ATH). We present the case of an obese 4-year-old boy hospitalized for severe desaturation during sleep and severe ATH. Nasal steroid therapy proved ineffective with persistent symptoms. Polygraphy documented severe OSA with an apnea-hypopnea index (AHI) equal to 11. Tonsillectomy resulted in prompt symptom improvement and a substantial reduction of the AHI (2.2). In this case, tonsillectomy alone resulted effective in treating OSA, despite obesity. We concluded that the presence of obesity should not postpone/exclude surgical treatment of preschool children for whom ATH is the most important cause of OSA.
Primary ovarian adenosarcoma with elevated Ca-125 levels and normal ascitic fluid cytology: a case report and review of literature
Authors: Pn Shakuntala, K Umadevi, A Usha, N Abhilasha, Ud Bafna
Journal: Ecancermedicalscience (2012)
Keywords: ca-125, adenosarcoma ovary, ascitic fluid cytology, chemotherapy
MeSH terms: Case Reports

Objective:
Ovarian adenosarcoma is a very rare tumour for which treatment options vary. We will consider the option of optimal cytoreductive surgery followed by adjuvant chemotherapy consisting of ifosamide (mesna) and adriamycin to prevent systemic metastasis, and will observe the role of serial CA-125 levels as a follow-up marker.
Case report:
We report a case of ovarian adenosarcoma in a 38-year-old woman presenting with abdominal pain, distention due to massive ascites. She had undergone total abdominal hysterectomy 8 months previously for abnormal uterine bleeding. She underwent paracentesis followed by optimal cytoreductive surgery. A post-operative histopathologic diagnosis of primary adenosarcoma was confirmed. She was assigned a stage III C cancer. She received five cycles of ifosamise (mesna) and adriamycin and is on follow-up with serial CA-125 levels. There is no evidence of recurrence clinically, biochemically, or radiologically for more than 12 months.
Conclusion:
Multimodality treatment comprising optimal cytoreductive surgery followed by ifosamide (mesna) and adriamycin-based chemotherapy may be an option for treatment of these aggressive tumours. Follow-up with serial CA-125 values in advanced stage adenosarcoma of the ovary is a novel observation which needs to be researched.