OpenMed/multicare-articles huggingface dataset:
Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome
Authors: Kristen Dilzell, Diana Darcy, John Sum, Robert Wallerstein
Journal: Case Rep Genet (2015)

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.
Moxifloxacin-warfarin interaction
Authors: Yan Ji, Youssef Hokayem
Journal: J Community Hosp Intern Med Perspect (2012)
Keywords: pt/inr, hypoalbuminemia, moxifloxacin, warfarin
MeSH terms: Case Reports

Two case reports presented here show elevated prothrombin time/international normalized ratios (PT/INR) following coadministration of warfarin and moxifloxacin. Although the underlying mechanism of this interaction still remains unclear, health care providers should be careful when prescribing moxifloxacin to patients on warfarin therapy, especially to patients with low albumin levels. More frequent monitoring of INR in these patients may be warranted.
Minimal invasive surgery in treatment of liver metastases from colorectal carcinomas: case studies and survival rates
Authors: Domenico Loffredo, Alberto Marvaso, Sandro Ceraso, Nicola Cinelli, Aldo Rocca, Mario Vitale, Michele Rossi, Eugenio Genovese, Bruno Amato, Mariapia Cinelli
Journal: BMC Surg (2013)
MeSH terms: Colorectal Neoplasms / pathology, Hepatectomy / methods, Liver Neoplasms / secondary, Liver Neoplasms / surgery, Adult, Aged, Female, Humans, Liver Neoplasms / mortality, Male, Middle Aged, Minimally Invasive Surgical Procedures, Retrospective Studies, Survival Rate

Background:
Liver represents the main organ subject to metastases from colorectal tumors. Resections of liver metastases from colorectal cancer have a well-considered therapeutic role underlined by survival of 5 years by approximately 50-60% of surgical cases as is deduced from an analysis of the most recent literature. The objective of surgery is to eradicate the metastases present and obtain a margin free from neoplastic impact of amplitude of approximately 1 cm with residual liver quantity at the end of the intervention that allows the patient to survive. Currently the dimensions and the number of colorectal liver metastases (CRLM) do not limit the hepatectomy. Purpose of this work is to evaluate the survival, according to our case studies of patients treated only with the wedge resection (atypical resection) approximately 1 cm from the margins of metastases.
Methods:
In "A. Rizzoli" Lacco Ameno Hospital (Ischia), from 2005 to 2010, 12 liver resections were performed for metastases from colorectal carcinoma with atypical resection. Synchronous surgical treatment with resection of the colorectal carcinoma and metastases was performed in 6 patients, 2 female and 4 male (Group 1). Surgical liver metastasectomy post-colectomy was performed on 6 patients, 3 female and 3 male (Group 2).
Results:
No patient was treated with chemotherapy. The mortality rate of intraoperative and perioperative infection was in both cases of 0%. Survival:11 patients treated surgically from 2005-2010 with synchronous surgery resection (Group 1) and liver metastasectomy (Group 2) are currently living. One 77-years-old patient died three years after surgery for BPCO.
Conclusions:
This result was able to be obtained due to the wedge resection technique routinely used in our Hospital, associated with the indispensable use of intraoperatory ultrasound (IOUS). Significant differences between the synchronous and non-synchronous intervention emerged only regarding the number of days of hospital stay, higher in the first case.
Homozygous deletion of TNFRSF4, TP73, PPAP2B and DPYD at 1p and PDCD5 at 19q identified by multiplex ligation-dependent probe amplification (MLPA) analysis in pediatric anaplastic glioma with questionable oligodendroglial component
Authors: Miguel Torres-Martín, Carolina Peña-Granero, Fernando Carceller, Manuel Gutiérrez, Rommel R Burbano, Giovanny R Pinto, Javier S Castresana, Bárbara Melendez, Juan A Rey
Journal: Mol Cytogenet (2014)
MeSH terms: Case Reports

Background:
Pediatric oligodendrogliomas are rare and appear to show a different molecular profile from adult tumors. Some gliomas display allelic losses at 1p/19q in pediatric patients, although less frequently than in adult patients, but this is rare in tumors with an oligodendroglial component. The molecular basis of this genomic abnormality is unknown in pediatric gliomas, but it represents a relatively common finding in pediatric oligodendroglioma-like neoplasms with leptomeningeal dissemination.
Results:
Multiplex ligation-dependent probe amplification (MLPA) analysis using SALSA P088-B1 for the analysis of the 1p/19q allelic constitution in a pediatric anaplastic (oligodendro)-glioma showed homozygous co-deletion for markers: TNFRSF4 (located at 1p36.33), TP73 (1p36.32), PPAP2B (1pter-p22.1), DPYD (1p21.3), and PDCD5 (19q13.12), and hemizygous deletion of BAX (19q13.3-q13.4). No sequence changes for R132 and R172 of the IDH1/2 genes were identified.
Conclusions:
The molecular findings in this pediatric anaplastic glioma do not allow for a clearly definitive pathological diagnosis. However, the findings provide data on a number of 1p/19q genomic regions that, because of homozygotic deletion, might be the location of genes that are important for the development and clinical evolution of some malignant gliomas in children.
Anesthetic and airway management of a child with a large upper-lip hemangioma
Authors: Sukhminderjit Singh Bajwa, Aparajita Panda, Sukhwinder Kaur Bajwa, Amarjit Singh, S S Parmar, Kanwalpreet Singh
Journal: Saudi J Anaesth (2011)
Keywords: airway management, difficult airway, hemangioma, hemangioma upper lip, intralesional steroids
MeSH terms: Case Reports

An 11-month-old male child weighing 8 kg was brought to the plastic surgery out-patient department by his parents with chief complaints of sudden increase in size of a swelling over the upper lip and difficulty in feeding for the last 7 days. It was diagnosed as a case of hemangioma of the upper lip. All the routine and special investigations including coagulation profile of the child were normal. The child was planned for ablation of feeding vessels along with intralesional steroid injection. Airway management of the child posed the challenge for us as the size and site of the lesion carried the risk of difficult intubation and possible risk of extensive hemorrhage. All the requisite equipment for difficult airway management was made ready. We were able to intubate the child with miller number-2 blade from the left angle of mouth without putting much pressure on the swelling. The surgical and postoperative period was uneventful and the child was discharged the next day to be followed up after 2 weeks.
One Bullet Causing Five Holes, Laparoscopic Exploration with Repair: A Case Report and Review of the Literature
Authors: Hunter Jones, Hassan Ahmed
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Introduction:
The proper treatment of penetrating abdominal wounds has been a controversial topic, and the preferred regimen has evolved over time. In recent years, many trauma centers have started using diagnostic laparoscopy in stable trauma patients in an effort to reduce the incidence of nontherapeutic laparotomy. This is more commonly seen in solid organ injuries, and its role is less clearly defined for hollow visceral injuries. Case Presentation. A 19-year-old male presented with a gunshot wound (GSW) to the abdomen with mild peritoneal signs and computed tomography (CT) findings. Diagnostic laparoscopy was performed with the repair of five lacerations to intra-abdominal organs including the sigmoid colon, rectum, bladder, and small bowel. Discussion. To our knowledge, this is the first case report in the literature detailing such a GSW repair. Abdominal GSWs have been repaired laparoscopically in the past, but none have elaborated on the repair of multiple defects of bowel and/or bladder.
Conclusion:
Therapeutic laparoscopy can be considered in selected cases of penetrating abdominal trauma. Laparoscopy offers several advantages over laparotomy including decreased mortality, complication rate, and length of stay.
A Thought-Provoking Case of Successfully Treated Carcinoma of the Head of the Pancreas with Metachronous Lung Metastasis: Impact of Distal Spleno-Renal Shunt for Regional Invasion on Long-Term Period after Pancreaticoduodenectomy
Authors: Ryuhei Aoyama, Tomohide Hori, Hidekazu Yamamoto, Hideki Harada, Michihiro Yamamoto, Masahiro Yamada, Takefumi Yazawa, Ben Sasaki, Masaki Tani, Asahi Sato, Hikotaro Katsura, Yasuyuki Kamada, Ryotaro Tani, Yudai Sasaki, Masazumi Zaima
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

When performing pancreaticoduodenectomy with resection of the confluence of the superior mesenteric vein and portal vein, division of the splenic vein may cause sinistral portal hypertension resulting in gastrointestinal bleeding, splenic congestion, and hypersplenism. To prevent these adverse events, it is important to intentionally decompress the splenic vein. This report is of a 68-year-old woman with stage IA carcinoma of the head of the pancreas who survived for more than six years following tumor resection and pancreaticoduodenectomy and distal splenorenal shunt. A 68-year-old woman was diagnosed with carcinoma of the head of the pancreas that involved the confluence of the superior mesenteric vein, portal vein, and splenic vein. No unresectable cancer sites or distant metastases were detected. Pancreaticoduodenectomy with resection of the confluence of the superior mesenteric vein and portal vein was performed. The superior mesenteric vein and portal vein were anastomosed in the end-to-end fashion, and the remnant splenic vein was anastomosed to the superior aspect of the left renal vein in the end-to-side fashion. At 22 months after the initial surgery, the patient underwent partial lung resection for a metachronous lung metastasis. For 6 years after the initial surgery, the venous reconstructions have maintained their patency without any obstruction of splenic venous flow, and the patient has remained in good health without further metastases or recurrences. This case has shown the importance of early diagnosis of carcinoma of the head of the pancreas, as appropriate and timely surgical management can result in good outcome. This patient responded well and remains alive six years following pancreaticoduodenectomy and preservation of the spleen with the use of a distal splenorenal shunt.
Malignant fibrous histiocytoma of the breast in young male patient: a case report and a review of the literature
Authors: Esengul Kocak Uzel, Metin Figen, Tuba Tulin Bek, Kubilay Inanc, Senem Onder, Hazim Orhan Kizilkaya
Journal: Case Rep Oncol Med (2013)

MALIGNANT FIBROUS HISTIOCYTOMA (MFH) IS A FAIRLY COMMON TUMOR IN THE DEEP SOFT TISSUES: the most frequent primary sites are the lower (49%) and upper (19%) limbs, but it has been reported even in the retroperitoneum and abdomen (16%), while localization in the breast is extremely rare (1-2). Breast cancer is rarely seen in males, accounts for approximately 1% of all breast cancer, and the breast sarcomas constitute less than 1% of breast tumors in both sexes. In the review of the literature, this is the third male and first young male with MFH. Here, we present a 37-years-old male patient who is diagnosed to have malignant fibrous histiocytoma in a variant of pleomorphic fusiform cell localized in the left breast. Following the wide local excision, the patient was given an adjuvant 50 Gy of external radiotherapy. He remained alive and well after 42 months of followup. We believe that reporting such few cases would contribute to forming treatment algorithms of rare tumors.
Upper Limb Deep Vein Thrombosis in Patient with Hemophilia A and Heterozygosity for Prothrombin G20210A: A Case Report and Review of the Literature
Authors: Fares Darawshy, Yosef Kalish, Issam Hendi, Ayman Abu Rmelieh, Tawfik Khoury
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation. Treatment with factor VIII and low molecular weight heparin led to successful resolution and marked improvement of his clinical condition.
Inflammatory Myofibroblastic Tumor of the Larynx:A Case Report
Authors: Farzad Izadi, Hadi Ghanbari, Mohammad Reza Azizi, Shahram Gasembaglou, Mohammad Javad Manteghi, Azadeh Ghanbari
Journal: Iran J Otorhinolaryngol (2016)
Keywords: head and neck tumor, immunohistochemstry (ihc), inflammatory myofibroblastic tumor, laryngeal mass, laryngeal pseudotumor, larynx
MeSH terms: Case Reports

Introduction:
Inflammatory myofibroblastic pseudotumors are initially described in the lung and various extrapulmonary sites such as the orbits, palatine tonsils, ears, gingiva, pterygomaxillary space, and periodontal tissues. These tumors rarely involve the larynx and predilection to the glottis occurs in an indolent manner.
Case report:
This case describes a laryngeal myofibroblastic tumor in a 46-year-old woman who presented with an aggressive tumor that extended to the floor of the mouth and the base of the tongue. Extended supraglottic laryngectomy was undertaken for the patient. The diagnosis was spindle cell proliferation with dense lymphoplasma cell infiltration compatible with inflammatory myofibroblastic tumor (Inflammatory pseudotumor or plasma cell granuloma). Definitive diagnosis was achieved with immunohistochemical (IHC) staining.
Conclusion:
We believe that further IHC studies are required to define the true nature of these tumors especially for those that behave in an aggressive pattern.
Robotic Shoulder Rehabilitation With the Hybrid Assistive Limb in a Patient With Delayed Recovery After Postoperative C5 Palsy: A Case Report
Authors: Shigeki Kubota, Hideki Kadone, Yukiyo Shimizu, Hiroshi Takahashi, Masao Koda, Kousei Miura, Hiroki Watanabe, Kenji Suzuki, Yasushi Hada, Yoshiyuki Sankai, Masashi Yamazaki
Journal: Front Neurol (2021)
Keywords: adjustment effect, erroneous motion pattern, hybrid assistive limb, postoperative c5 palsy, robotic shoulder rehabilitation
MeSH terms: Case Reports

C5 palsy is a serious complication that may occur after cervical spine surgery; however, standard procedures for shoulder rehabilitation for patients with postoperative C5 palsy have not yet been established. We used a wearable robot suit Hybrid Assistive Limb (HAL) in a patient with delayed recovery after postoperative C5 palsy and conducted shoulder abduction training with the HAL. A 62-year-old man presented with weakness in his left deltoid muscle 2 days after cervical spine surgery. He experienced great difficulty in elevating his left arm and was diagnosed with postoperative C5 palsy. Seven months after surgery, shoulder abduction training with a HAL was initiated. In total, 23 sessions of shoulder HAL rehabilitation were conducted until 26 months after surgery. His shoulder abduction angle and power improved at every HAL session, and he was able to fully elevate his arm without any compensatory movement after the 23rd session, suggesting that the HAL is a useful tool for shoulder rehabilitation in patients with postoperative C5 palsy. We employed shoulder HAL training for a patient with delayed recovery from postoperative C5 palsy and achieved complete restoration of shoulder function. We believe that the HAL-based training corrected the erroneous motion pattern of his paralyzed shoulder and promoted errorless motor learning for recovery. Our collective experience suggests that shoulder HAL training could be an effective therapeutic tool for patients with postoperative C5 palsy.
Severe Preeclampsia, Antiphospholipid Syndrome, and Ulnar Artery Thrombosis in a Teenage Pregnancy: A Rare Association
Authors: M Patabendige, G Barnasuriya, I Mampitiya
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Antiphospholipid syndrome (APS) is associated with vascular thrombosis and pregnancy complications. It causes recurrent miscarriage and it is associated with other adverse pregnancy outcomes such as preterm delivery, intrauterine growth restriction, preeclampsia, and HELLP syndrome. Obstetric morbidity is one of the major manifestations of APS with a wide variety of clinical manifestations. This case describes a case of a severe preeclampsia in a 16-year-old primigravida at 29 weeks resulting in a caesarean delivery and subsequent finding of an ulnar artery thrombosis in postpartum period. APS was diagnosed on further investigations of her symptoms and signs.
Undifferentiated hepatic carcinoma with osteoclast-like giant cells: A case report and literature review
Authors: Yujiao Deng, Ya Wang, Yan Zhang, Na Yang, Xingli Ji, Bing Wu
Journal: Front Oncol (2023)
Keywords: diagnosis, osteoclast-like giant cell, prognosis, treatment, undifferentiated hepatic carcinoma
MeSH terms: Case Reports

Osteoclast-like giant cell tumor (OGCT) is a common bone tumor, occasionally observed in some extraosseous organs, but rarely involving the digestive system, especially the liver. Previously reported osteoclast-like giant cell carcinoma of the liver often coexists with sarcomatoid or hepatocellular carcinoma. Undifferentiated liver tumors with osteoclast-like giant cells (OGCs) are extremely rare. Due to its rarity, there is no consensus for diagnosis and treatment of undifferentiated liver tumors with OGCs. Definitive diagnosis comes from surgery, so there is often a long delay in diagnosis following the occurrence of symptoms. This case describes an extremely rare case of an undifferentiated liver tumor with OGCs in detail. It also summarizes the previously published cases based on liver tumors with OGCs from August 1980 to June 2021, providing extensive evidence to improve preoperative diagnosis and management options.
When identity is not reached: two cases from Brasilia
Authors: Aluisio Trindade Filho
Journal: Forensic Sci Res (2023)
Keywords: forensic sciences, forensic anthropology, human identification failure, missing person database, primary methods of identification
MeSH terms: Case Reports

When human remains are examined, three questions always need to be answered: who is the deceased, what was the cause of death, and when did the death occur, the former question being the most relevant. The identification of half or fully skeletonized human remains is a complex process and always requires the use of methods that allow individualization beyond any reasonable doubt. However, no matter how vigorous the search for identification, this is not always achieved. Here, the author presents two cases in which identification was exhaustively attempted but not achieved despite the existence of an osteo implanted device in one case and the presence of documents in the other. In one case, we could not find a potential identity for the deceased, while in the other we found a possible identity but not a family member to provide antemortem data to confirm it. Although the scientific literature tends to favour the publication of cases with favourable outcomes, one should also learn from failures, which is the reason why the author decided to publish his unsuccessful experiences. The reasons for the failures are discussed, as well as methodological improvements for future cases.
Mantle cell lymphoma presenting with lethal atraumatic splenic rupture
Authors: Frederick Eyerer, Juli-Anne Gardner, Katherine A Devitt
Journal: Autops Case Rep (2021)
Keywords: cyclin d, lymphoma, malignant, lymphoma, mantle-cell, splenic rupture
MeSH terms: Case Reports

Mantle cell lymphoma is characterized by t(11;14) with CCND1-IGH fusion and manifests with a spectrum of disease ranging from relatively indolent to aggressive. Here, we present a case of pleomorphic mantle cell lymphoma with three fusion signals that presented with lethal atraumatic splenic rupture. We discuss on the implications of variant CCND1 signal patterns as well as the epidemiology and pathophysiology of atraumatic splenic rupture.
Angle grinder as surgical tool for incarcerated penoscrotal steel ring
Authors: Dan Alin Pop, Bogdan Ioan Stanciu, Tudor Moisoiu, Dan Burghelea, Florin Ioan Elec
Journal: Pan Afr Med J (2020)
Keywords: steel ring, angle grinder, penile strangulation, scrotal entrapment
MeSH terms: Device Removal / methods, Foreign Bodies / complications, Penis / injuries, Case Reports, Adolescent, Device Removal / instrumentation, Foreign Bodies / surgery, Humans, Male, Penis / surgery, Steel, Time Factors, Steel

Penile strangulation with concomitant scrotal entrapment by a steel ring is an extremely rare urological emergency that requires immediate intervention. Any delay may lead to irreversible complications. Metal rings increase penile engorgement and are usually associated with an attempt to improve sexual pleasure or to maintain a prolonged erection. The removal of steel rings can be challenging and may require a multidisciplinary approach. We present a unique case report of an 18-year-old male with a penoscrotal steel ring retained for 24 hours that was safely removed using an angle grinder as a surgical tool.
Severe Eosinophilic Meningoencephalitis Secondary to Suspected Neuroangiostrongyliasis with a Good Clinical Outcome
Authors: Fabian Chiong, Andrew R Lloyd, Jeffrey J Post
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Angiostrongylus cantonensis has caused sporadic cases of eosinophilic meningoencephalitis in Sydney, Australia. We describe a 36-year-old man who presented subacutely with fevers, reduced level of consciousness, confusion, ophthalmoplegia, and urinary incontinence. He was diagnosed with severe eosinophilic meningoencephalitis secondary to suspected Angiostrongylus cantonensis based on clinical, serological, and radiological findings. The patient was treated with albendazole and prednisolone with full neurological recovery. Management of neuroangiostrongyliasis with anthelminthic is controversial as it is thought to cause worsened outcomes through inciting an inflammatory response as a result of parasite killing. We managed to successfully treat our patient using albendazole and prednisolone and achieved a good outcome.