OpenMed/multicare-articles huggingface dataset:
Long-term follow-up and pregnancy after complete sacrectomy with lumbopelvic reconstruction: case report and literature review
Authors: Valentin V Barsan, Valentina Briceño, Manisha Gandhi, Andrew Jea
Journal: BMC Pregnancy Childbirth (2016)
MeSH terms: Lumbar Vertebrae / surgery, Orthopedic Procedures / adverse effects, Plastic Surgery Procedures / adverse effects, Pregnancy Complications / etiology, Sacrum / surgery, Case Reports, Review, Adolescent, Female, Follow-Up Studies, Humans, Ilium, Live Birth, Myosarcoma / surgery, Orthopedic Procedures / methods, Plastic Surgery Procedures / methods, Postoperative Period, Pregnancy, Spinal Neoplasms / surgery, Time

Background:
Sacrectomy remains a technically complex procedure for resection of malignant pelvic neoplasia. Commonly, postoperative complications include permanent neurological deficits. Only a few studies have reported the long-term functional outcomes of patients who had undergone sacrectomy.
Case presentation:
We previously reported on the utilization of complete sacrectomy and lumbopelvic reconstruction for the management of primary myofibroblastic sarcoma of the sacrum and ilium in a 15-year-old female patient. In this report, we update her postoperative course with an additional 5 years of follow-up and Health-Related Quality of Life (HRQoL) outcomes. During this time period, she gave birth to two healthy full-term babies.
Conclusion:
To the best of our knowledge, this is the first report of pregnancy after total sacrectomy and lumbopelvic reconstruction. We outline some of the challenges in the obstetrical management of this patient.
Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation
Authors: Parvaneh Karimzadeh, Simin Khayatzadeh Kakhki, Shaghayegh Sadat Esmail Nejad, Masood Houshmand, Mohammad Ghofrani
Journal: Iran J Child Neurol (2017)
Keywords: aoa1, aptx gene, ataxia-oculomotor apraxia, new mutation
MeSH terms: Case Reports

Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are the most two common and typical manifestations. Oculomotor apraxia is usually seen a few years after the manifestations start. APTX gene on 9p13.3 chromosome is expressed in the cells of all human body tissues and different mutations had been discovered. Here we report two siblings (a girl and a boy) of consanguineous parents visited at Mofid Pediatrics Hospital in 2015, with history of gait ataxia, titubation, tremor, and oculomotor apraxia around five yr old and after that. The brother showed symptoms of disease earlier and more severe than his sister did. After ruling out the common etiologies of progressive ataxia, we did genetic study for AOA1 that showed a homozygous frameshift mutation as c.418_418 del was found. This mutation was not reported before so this was a new mutation in APTX gene.
Lung transplantation in an intensive care patient with pulmonary alveolar microlithiasis - a case report
Authors: Bülent Güçyetmez, Aylin Ogan, Aylin Cimet Ayyıldız, Berrin Yalçın Güder, Walter Klepetko
Journal: F1000Res (2014)

Introduction:
Pulmonary alveolar microlithiasis (PAM) is an autosomal recessive disease characterized by the deposition of phosphate and calcium in the alveoli. The disease progresses asymptomatically until later stages. When it becomes symptomatic, lung transplantations performed before the onset of right heart failure may improve life expectancy and quality. Here we present a case report concerning the very first Turkish PAM patient to have undergone lung transplantation surgery. Patient information: A 52 year-old female, Caucasian patient, already diagnosed with PAM in infancy, was admitted to the intensive care unit, diagnosed with pneumonia and hospitalized for 20 days. We decided to refer the patient to a specialized center for lung transplantation. Bilateral lung transplantation was performed in Vienna 14 months later and no recurrence was observed during the first postoperative year.
Conclusion:
Bilateral lung transplantation may improve both the life expectancy and the quality of life of PAM diagnosed patients with severe respiratory failure who do not suffer from right heart failure. The risk of recurrence should not be considered as a justifying reason to avoid transplantation as a treatment method.
Small bowel involvement documented by capsule endoscopy in Churg-Strauss syndrome
Authors: Birane Beye, Gilles Lesur, Pierre Claude, Lionel Martzolf, Pierre Kieffer, Daniel Sondag
Journal: Pan Afr Med J (2015)
Keywords: churg-strauss syndrome, small intestine involvement, video capsule endoscopy
MeSH terms: Capsule Endoscopy / methods, Churg-Strauss Syndrome / diagnosis, Intestine, Small / pathology, Case Reports, Abdominal Pain / etiology, Adult, Churg-Strauss Syndrome / pathology, Gastrointestinal Hemorrhage / etiology, Humans, Male

Churg-Strauss syndrome is a small and medium vessel vasculitis and is also known as allergic granulomatous angiitis. Gastrointestinal involvement is common in patients with Churg-Strauss syndrome (20-50%). The most common symptoms are abdominal pain, diarrhoea and occasionally gastrointestinal bleeding and perforation. We present a case of Churg-Strauss syndrome with small bowel lesions documented by video capsule endoscopy.
Dermatomyositis presenting with rhabdomyolysis and acute renal failure; an uncommon manifestation
Authors: Deepika Joshi, Niraj Kumar, Anand Rai
Journal: Ann Indian Acad Neurol (2009)
Keywords: acute tubular necrosis, dermatomyositis, myoglobinuria, renal failure, rhabdomyolysis
MeSH terms: Case Reports

Rhabdomyolysis and myoglobinuria are a rare complication of dermatomyositis. Such patient can land up in acute renal failure. Recognition of this fact has important therapeutic implications as patients require immunotherapy in addition to the symptomatic treatment for renal failure. We report a case of dermatomyositis with evidence of rhabdomyolysis and myoglobinuria presenting with acute renal failure. The patient responded dramatically to corticosteroid therapy.
Index patient and SARS outbreak in Hong Kong
Authors: Raymond S M Wong, David S Hui
Journal: Emerg Infect Dis (2004)
MeSH terms: Disease Outbreaks, Severe Acute Respiratory Syndrome / epidemiology, Case Reports, Adult, Hong Kong / epidemiology, Humans, Infectious Disease Transmission, Patient-to-Professional, Male, Personnel, Hospital, Radiography, Thoracic, Severe Acute Respiratory Syndrome / diagnosis, Severe Acute Respiratory Syndrome / transmission

During the global outbreak of severe acute respiratory syndrome (SARS) in 2003, treatment was empiric. We report the case history of the index patient in a hospital outbreak of SARS in Hong Kong. The patient recovered after conventional antimicrobial therapy. Further studies are needed to address treatment of SARS, which has high attack and death rates.
Hemangioma in a pulmonary hilar lymph node: case report
Authors: Taichiro Goto, Kumi Akanabe, Arafumi Maeshima, Ryoichi Kato
Journal: World J Surg Oncol (2011)
MeSH terms: Hemangioma / pathology, Lung Neoplasms / pathology, Lymph Nodes / pathology, Case Reports, Aged, Diagnosis, Differential, Hemangioma / surgery, Humans, Lung Neoplasms / surgery, Lymphatic Metastasis, Male, Prognosis, Tomography, X-Ray Computed

Background:
Different types of vascular proliferation may occur in lymph nodes, but hemangiomas in lymph nodes are extremely rare.
Case presentation:
A 73-year-old man was found to have a 15-mm nodular shadow in the left lung on computed tomography, and bronchoscopic brush cytology yielded a diagnosis of squamous cell carcinoma. Chest computed tomography showed no evidence of hilar or mediastinal lymphadenopathy. Left lower lobectomy with hilar and mediastinal lymph node dissection was performed. Postoperative histopathological examination revealed squamous cell carcinoma and no lymph node metastasis. On the other hand, a lobar bronchial lymph node presented a small lesion showing the dense proliferation of capillary blood vessels with elastic change. Immunohistochemically, the lesion was positive for factor VIII and CD34, leading to a diagnosis of primary hemangioma of the lymph node.
Conclusion:
To our knowledge, this is the first case reported in the literature of hemangioma in a pulmonary hilar lymph node. Intranodal hemangioma needs to be differentiated from malignant vascular tumors.
Colorectal Cancer Presenting as Single Pulmonary Hilar Lymph Node Metastasis
Authors: Ahmed M Habib, Xenophon Kassianides, Samuel Chan, Mahmoud Loubani, Syed Qadri
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Colorectal carcinoma is the second biggest cancer responsible for mortality. Lung metastasis is the commonest, following the liver. It is not uncommon to perform pulmonary metastasectomy and identify mediastinal metastasis. Previous studies have identified incidental lymph node involvement following routine mediastinal lymph node clearance in 20-50% of cases. However, solitary intrathoracic lymph node metastasis is exceedingly rare. Even when present, it is usually metachronous. In our case, we present an exceedingly rare case whereby the intrathoracic lymph node metastasis is solitary, not accompanying pulmonary disease and with no liver metastasis. We also review the evidence for mediastinal lymphadenectomy in the literature.
Calciphylaxis of the Postmenopausal Female Breast: An Uncommonly Encountered Mimic of Carcinoma
Authors: Aaron G Novotny, Ashley B Simpson, Melinda A Kral, Benjamin C Calhoun, Amy E Cocco, Steven D Billings, Susan K Miller, Paulette L Lebda, Charles D Sturgis
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Calciphylaxis is a serious medical condition that is typically associated with end-stage renal disease and presents as the sequelae of calcifications in arterioles with subsequent ischemia of affected tissues. Classically, calciphylaxis produces ulcerated and necrotic skin lesions. These may be biopsied to aid in confirmation of the diagnosis. Herein we report a case of a large necrotic breast lesion in the clinical setting of calciphylaxis, and we emphasize that a multidisciplinary approach to diagnosis and management is important to avoid unnecessary oncological resection.
Inter-identity autobiographical amnesia in patients with dissociative identity disorder
Authors: Rafaële J C Huntjens, Bruno Verschuere, Richard J McNally
Journal: PLoS One (2012)
MeSH terms: Amnesia / complications, Amnesia / physiopathology, Dissociative Identity Disorder / complications, Dissociative Identity Disorder / physiopathology, Memory, Episodic, Research Support, Non-U.S. Gov't, Adult, Amnesia / diagnosis, Female, Humans, Neuropsychological Tests, Reaction Time / physiology

Background:
A major symptom of Dissociative Identity Disorder (DID; formerly Multiple Personality Disorder) is dissociative amnesia, the inability to recall important personal information. Only two case studies have directly addressed autobiographical memory in DID. Both provided evidence suggestive of dissociative amnesia. The aim of the current study was to objectively assess transfer of autobiographical information between identities in a larger sample of DID patients.
Methods:
Using a concealed information task, we assessed recognition of autobiographical details in an amnesic identity. Eleven DID patients, 27 normal controls, and 23 controls simulating DID participated. Controls and simulators were matched to patients on age, education level, and type of autobiographical memory tested.
Findings:
Although patients subjectively reported amnesia for the autobiographical details included in the task, the results indicated transfer of information between identities.
Conclusion:
The results call for a revision of the DID definition. The amnesia criterion should be modified to emphasize its subjective nature.
Febrile illness and bicytopenia within hours after tick-borne encephalitis booster vaccination
Authors: Tim Bühler, Noemi Boos, Anne B Leuppi-Taegtmeyer, Christoph T Berger
Journal: NPJ Vaccines (2019)
Keywords: adjuvants, fever, haematological diseases, inactivated vaccines, pain
MeSH terms: Case Reports

We report the case of a 20-year-old male complaining of sudden-onset, severe headaches, fever, chills, and generalized arthralgia. He had no symptoms of a respiratory tract infection. Blood examination revealed severe leukopenia and mild to moderate thrombocytopenia. Onset of symptoms was rapid, intense, and occurred only a few hours after routine tick-borne encephalitis (TBE) booster vaccine. The question of a relationship between booster vaccine administration and the febrile illness with bicytopenia was raised. A broad range of diagnostics excluded infections and other causes for bicytopenia. Symptoms resolved within a few days, and blood counts normalized within two weeks. Due to the close temporal relationship, a transient benign bicytopenia and febrile illness as a systemic reaction to TBE vaccination was assumed. Review of the literature and adverse event reporting systems suggest that this is a very rare reaction.
Facial cellulitis revealing choreo-acanthocytosis: a case report
Authors: Younes Samia, Cherif Yosra, Bellazreg Foued, Aissi Mouna, Berriche Olfa, Souissi Jihed, Braham Hammadi, Frih-Ayed Mahbouba, Letaief Amel, Sfar Mohamed Habib
Journal: Pan Afr Med J (2014)
Keywords: choreo-acanthocytosis, dyskinetic movements, facial cellulitis
MeSH terms: Cellulitis / etiology, Neuroacanthocytosis / complications, Case Reports, Cellulitis / pathology, Diagnosis, Differential, Face, Humans, Male, Middle Aged, Neuroacanthocytosis / pathology

We report a 62 year-old-man with facial cellulitis revealing choreo-acanthocytosis (ChAc). He showed chorea that started 20 years ago. The orofacial dyskinisia with tongue and cheek biting resulted in facial cellulitis. The peripheral blood smear revealed acanthocytosis of 25%. The overall of chorea, orofacial dyskinetic disorder, peripheral neuropathy, disturbed behavior, acanthocytosis and the atrophy of caudate nuclei was suggestive of a diagnosis of ChAc. To our knowledge no similar cases of facial cellulitis revealing choreo-acanthocytosis (ChAc) were found in a review of the literature.
Stercoral perforation proximal to the stapled anastomosis after low anterior resection with an intraluminal device
Authors: J B van Praagh, I S Bakker, K Havenga
Journal: Int J Colorectal Dis (2018)
Keywords: c-seal, dysmotility, intraluminal device, perforation
MeSH terms: Anastomosis, Surgical / adverse effects, Digestive System Surgical Procedures / adverse effects, Digestive System Surgical Procedures / instrumentation, Intestinal Perforation / etiology, Surgical Staplers / adverse effects, Case Reports, Aged, Fatal Outcome, Female, Humans, Male

Stercoral perforation of the colon is a rare phenomenon and a potential life-threatening condition requiring acute intervention. A little more than 200 cases have been described to date. The mechanism is not completely understood. In this short communication, we present three patients with a colon perforation proximal to the anastomosis, similar to a stercoral perforation, following colorectal cancer resection with application of an intraluminal device, the C-seal.
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
Authors: Ana Carolina S Fonseca, Adriano Bonaldi, Simone A S Fonseca, Paulo A Otto, Fernando Kok, Mads Bak, Niels Tommerup, Angela M Vianna-Morgante
Journal: Mol Cytogenet (2015)
Keywords: 2p14 deletion, 2p14p15 microdeletion syndrome, 5q232-233 duplication, cep68, rab1a and actr2 deletion, familial karyotypically balanced translocation, lmnb1 duplication
MeSH terms: Case Reports

Background:
About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. Rare familial BCRs segregating with clinical features are a powerful source for the identifying of causative genes due to the presence of several affected carriers.
Case presentation:
We report on a karyotypically balanced translocation t(2;22)(p13;q12.2) associated with variable learning disabilities, and craniofacial and hand dysmorphisms, detected in six individuals in a three-generation family. Combined a-CGH, FISH and mate-pair sequencing revealed a ten-break complex rearrangement, also involving chromosome 5. As the consequence of the segregation of the derivative chromosomes der(2), der(5) and der(22), different imbalances were present in affected and clinically normal family members, thus contributing to the clinical variability. A 6.64 Mb duplication of a 5q23.2-23.3 segment was the imbalance common to all affected individuals. Although LMNB1, implicated in adult-onset autosomal dominant leukodystrophy (ADLD) when overexpressed, was among the 18 duplicated genes, none of the adult carriers manifested ADLD, and LMNB1 overexpression was not detected in the two tested individuals, after qRT-PCR. The ectopic location of the extra copy of the LMBN1 gene on chromosome 22 might have negatively impacted its expression. In addition, two individuals presenting with more severe learning disabilities carried a 1.42 Mb 2p14 microdeletion, with three genes (CEP68, RAB1A and ACTR2),which are candidates for the intellectual impairment observed in the previously described 2p14p15 microdeletion syndrome, mapping to the minimal overlapping deleted segment. A 5p15.1 deletion, encompassing 1.47 Mb, also detected in the family, did not segregate with the clinical phenotype.
Conclusion:
The disclosing of the complexity of an apparently simple two-break familial rearrangement illustrates the importance of reconstructing the precise structure of derivative chromosomes for establishing genotype-phenotype correlations.
Laparoendoscopic Rendezvous for Concomitant Cholecystocholedocholithiasis: A Successful Modality Even in the Most Difficult Presentations Including Pregnancy
Authors: Bader Hamza Shirah, Zaher Abdulaziz Mikwar, Akram Neyaz Ahmad, Yaser Mohammed Dahlan
Journal: Case Rep Surg (2016)
MeSH terms: Case Reports

Background. Laparoendoscopic rendezvous (LERV) technique is emerging as an attractive treatment option for concomitant cholecystocholedocholithiasis. In this paper, we report our experience in performing the LERV technique in patients with unusual presentations in terms of anatomical difficulty, pregnancy, multiple comorbid diseases, and postlaparotomy. We aim to highlight the effectiveness of the LERV technique in some clinical situations where conventional methods would fail or carry high risks in adequately managing concomitant cholecystocholedocholithiasis. Methods. Four patients diagnosed to have concomitant cholecystocholedocholithiasis with associated difficult presentation or comorbid diseases were treated using the LERV technique. One patient presented with difficult anatomy where ERCP failed at initial attempts. Another patient was pregnant (first trimester). A third patient had complex comorbid diseases (bronchial asthma, hypertension, congestive heart failure, and end-stage renal disease on regular hemodialysis). A fourth patient had previous laparotomy and sigmoidectomy for diverticular disease and had severe hospital phobia. Results. All patients tolerated the LERV technique very well; no intraoperative occurrence was reported. The mean operative time was 86.3 ± 17.2 minutes; mean time of the endoscopic part was 29.4 ± 3.57 minutes. The mean blood loss was 44.3 ± 18.2 mL (range 20-85). Residual stone, postoperative complications, postoperative morbidity, and postoperative mortality were 0 (0%). Postoperative short hospital stay was reported in all patients, average 3 days (range 2-4). Conclusion. LERV procedure is a safe and effective treatment option for the management of concomitant cholecystocholedocholithiasis, even in difficult situations where other methods would fail or carry high risks, or in patients presenting with severe comorbid diseases or pregnancy. This procedure may emerge as an attractive alternative option for high-risk patients. A patient's wishes may also influence the selection of this procedure. More scientific studies recruiting more patients should be done in order to standardize the LERV procedure.
Case Report: Polyvinylpyrrolidone deposition disease from repeated injection of opioid substitution drugs: report of a case with a fatal outcome
Authors: Ida Viken Stalund, Gro Nygard Riise, Friedemann Leh, Tormod Karlsen Bjånes, Lars Riise, Einar Svarstad, Sabine Leh
Journal: F1000Res (2021)
Keywords: pvp, polyvinylpyrrolidone, adverse effect, case report, methadone, opioid substitution drugs, opioid substitution therapy, povidone
MeSH terms: Buprenorphine, Pharmaceutical Preparations, Case Reports, Research Support, Non-U.S. Gov't, Adult, Analgesics, Opioid, Humans, Male, Povidone / adverse effects, Analgesics, Opioid, Pharmaceutical Preparations, Buprenorphine, Povidone

Background: Intravenous injection of oral opioid substitution drugs (OSD) is widespread among injecting drug users. Several OSDs contain the polymer polyvinylpyrrolidone (PVP) as an excipient. Parenterally administered PVP of high molecular weight may accumulate in tissues and organs. This phenomenon was first described in the 1950s, when PVP was utilised in medication for parenteral use. We report a case of an opioid-addicted patient with extensive PVP-deposition caused by repeated injections of OSDs. Case presentation: A 30-year-old male drug addicted patient in opioid substitution therapy (OST) was repeatedly referred to his local hospital in a poor general condition. Work-up revealed severe normocytic anaemia, renal insufficiency, pancreas insufficiency and pathological fractures. Biopsies from fractured bones, bone marrow and gastric mucosa showed extensive infiltrates of histiocytes with intracytoplasmic vacuoles. Vacuole content stained slightly bluish in hematoxylin and eosin stain, red in Congo red stain and black in periodic acid methenamine silver stain. The morphological appearance and staining properties were in accordance with the diagnosis of PVP deposition. The patient had been injecting both buprenorphine tablets and a specific methadone syrup for several years. The methadone syrup contained large amounts of high molecular weight PVP, making it the most likely cause of the deposition. His health quickly deteriorated and he died, impaired by multi-organ failure and cachexia, five years after the first diagnosis of PVP-deposition. The autopsy revealed extensive PVP-deposition in all sampled organs and tissues. Conclusions: Histological investigation and the correct identification of PVP in the biopsies led to the discovery of a severe adverse effect from long-standing misuse of a drug. The disseminated PVP deposition likely contributed to multi-organ dysfunction and cachexia with a fatal outcome. The deposited PVP likely originated from repeated injections of a certain methadone syrup.