OpenMed/multicare-articles huggingface dataset:
Hemidystrophic Thorax Mimicking Scoliosis
Authors: Hans-Rudolf Weiss, Sarah Seibel
Journal: Open Orthop J (2018)
Keywords: atr, cobb angle, hemidystrophic thorax, scoliosis, scoliotic deformity, thoracic deformities

Background:
We regularly use Angle of Trunk Rotation (ATR) measurements for scoliosis screening and also for clinical follow-up of our scoliosis patients under treatment. In some patients, when ATR measurements exceed the screening threshold but without a significant degree of curvature on the X-ray (Cobb angle), a Hemidystrophic Thorax (HDT) is diagnosed. The purpose of this paper was to present a case series of patients with this kind of thoracic deformity because this may be mimicking scoliosis to a significant degree.
Materials and methods:
This case series is a consecutive series of patients where the first author detected a hemidystrophic thorax instead of or in combination with scoliosis. A 3D scan of the trunk was made and adjusted to the coordinates in order to achieve an upright orientation of the upper trunk. The scan was scaled in order to determine certain anatomic landmarks, as performed in preparation for bracing. The scan was cut horizontally at the xiphoid level and the plane at this level was analysed visually in order to detect deformations that were different to the typical scoliotic deformations in the horizontal plane.
Results:
Seven cases were analysed and described in more detail.
Conclusion:
The condition of HDT may lead to significant rib humps that mimic scoliosis. According to our case series, mild scoliosis can also be associated with HDT. HDT, according to the cases presented in this study, seems to be a relatively benign deformity. Long-term observations are necessary before a final conclusion can be drawn with respect to prognosis.
Pullthrough Operation for Hirschsprung's Disease: Importance of a Circumferential (Donut) Biopsy at the Level of the Anastomosis
Authors: Susan Jehangir, Soundappan Venkatraman Sannappa Soundappan, Micheal Krivanek, Susan Arbuckle, Nicole Graf
Journal: European J Pediatr Surg Rep (2019)
Keywords: hirschsprung's disease, atypical aganglionosis, skip lesions, zonal aganglionosis
MeSH terms: Case Reports

Hirschsprung's disease is characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. It is managed by excision of the aganglionic segment and anastomosis of the ganglionated bowel just above the dentate line. The level of aganglionosis is determined by performing multiple seromuscular biopsies and/or full thickness biopsy on the antimesenteric border of the bowel to determine the level of pullthrough. The transition zone is described as being irregular, and hence a doughnut biopsy is recommended so that the complete circumference can be assessed. Herein, we described a child in whom there was a selective absence of ganglion cells in 30% of the circumference of the bowel along the mesenteric border for most of the transverse colon. This case defies the known concept of neural migration in an intramural and transmesenteric fashion and emphasizes the importance of a doughnut biopsy of the pulled-down segment.
The turbocharged wide anterolateral thigh perforator flap to reconstruct massive soft tissue defects in traumatized lower extremities: A case series
Authors: Seong-Ho Jeong, Do-Yoon Koo, Kyung-Chul Moon, Eun-Sang Dhong, Seung-Kyu Han
Journal: Front Surg (2022)
Keywords: anterolateral thigh perforator flap, branches of lateral circumflex femoral artery, extensive soft tissue defects, limb salvage, lower extremity trauma, turbocharging procedure

Background:
Extensive traumatic soft tissue defects in the lower extremities typically require complete coverage of exposed bone because inadequate coverage, such as partial flap loss, may result in bony infection and ultimately lead to limb salvage failure. To achieve complete coverage of these defects, we used the wide anterolateral thigh perforator flap in which the turbocharging procedure augments the blood flow. Herein, we describe our turbocharging technique and discuss its effectiveness.
Methods:
From January 2014 to December 2020, the turbocharged wide ALTP free flaps were used to treat 13 patients with massive traumatic soft tissue defects in the lower extremities, ranging in size from 22 × 10 cm2 (220 cm2) to 21 × 17 cm2 (357 cm2) (mean, 270 cm2). All ALTP flaps were supplied by perforators from both the transverse branch of the lateral circumflex artery (TB-LCFA) and descending branch of the lateral circumflex artery (DB-LCFA) simultaneously. The turbocharging procedure by connecting the TB-LCFA to a side branch of the DB-LCFA was carried out in all these flaps. A retrospective review of medical records for each patient was performed.
Results:
The size of the transferred ALTP flap ranged from 23 × 12 cm2 (276 cm2) to 23 × 19 (437 cm2) (mean, 331 cm2). The total number of perforators included in the flaps was three on average. All ALTP flaps survived completely without partial necrosis. The postoperative course was uneventful except for two cases with minor complications, including hematoma and partial necrosis of the recipient's skin.
Conclusion:
Free transfer of the turbocharged wide ALTP flap can be a reliable and effective reconstructive method to obtain complete coverage of extensive traumatic soft tissue defects in the lower extremities and achieve successful limb salvage.
Pelvic Chondrosarcoma Treated by En Bloc Resection with Patient-Specific Osteotomy Guides and Reimplantation of the Extracorporeally Irradiated Bone as an Osseocartilaginous Structural Orthotopic Autograft: A Report of Two Cases with Description of the Surgical Technique
Authors: Georgios Gkagkalis, Kevin Moerenhout, Hannes A Rüdiger, Daniel A Müller, Igor Letovanec, Stephane Cherix
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Primary tumors of the pelvis are considered difficult to treat due to the complex anatomy and the proximity of important neurovascular structures. The surgical armamentarium for the treatment of these tumors has evolved with the help of cutting-edge technology from debilitating hemipelvectomies to solutions such as precise resections guided by patient-specific instruments or computer navigation and reconstruction by modular prostheses, 3D-printed custom-made implants, or orthotopic autograft reimplantation after extracorporeal irradiation. Different combinations of these techniques have been described in the literature with various rates of success. We present two cases of pelvic chondrosarcomas successfully treated by a combination of periacetabular resection with patient-specific osteotomy guides and orthotopic reimplantation of the extracorporeally irradiated autograft resulting in retention of the native hip.
Case Report: A rare case of primary paraganglioma of the gallbladder with a literature review
Authors: Yijun Xia, Shi Wang, Xidong Wang, Jiya Du, Lei Zhang, Long Xia
Journal: Front Oncol (2023)
Keywords: differential diagnosis, gallbladder paraganglioma, immunohistochemistry, neuroendocrine neoplasms (nens), surufatinib
MeSH terms: Case Reports

Introduction:
Paragangliomas of the gallbladder are exceptionally rare. To date, only a few cases of this disease have been reported globally, and the majority were found incidentally during surgery. Although complete resection can achieve a curative effect, specific targeted drugs may have survival benefits for patients with potential recurrence and metastasis risks.
Case presentation:
A 48-year-old woman was scheduled for anatomical central hepatectomy due to the discovery of a liver mass. Surprisingly, a gallbladder tumor accompanied by intrahepatic invasion was found rather than primary liver lesions during the operation. Postoperatively, the lesion was confirmed to be a paraganglioma originating from the gallbladder with intrahepatic invasion detectable on histopathology. After surgery, the patient was treated with a new targeted drug, surufatinib {200 mg, q.d. [quaque die (every day)]}, and no recurrence was observed during the regular follow-up.
Discussion:
Gallbladder paraganglioma is rare and occult, and surgeons do not know it well, so it is easily misdiagnosed before surgery. Postoperative pathological examination is the gold standard for diagnosis.
Conclusion:
Given that the tumor contained abundant blood sinuses, the early and continuous enhancement of dynamic enhanced CT scanning was its characteristic manifestation. We presented a case in which a primary gallbladder paraganglioma was identified accidentally in a patient who was misdiagnosed with a liver lesion before surgery. Based on our experience in this work, the en bloc resection technique in combination with surufatinib might have a survival benefit to patients at risk of potential recurrence or metastasis; however, further follow-up observations are needed.
Acute arterial thrombosis after covered stent exclusion of bleeding mycotic pseudoaneurysm: treatment using catheter-directed thrombolysis
Authors: Sarah Palestrant, M Grace Knuttinen, Ron C Gaba, James T Bui, Charles A Owens
Journal: Int J Vasc Med (2011)
MeSH terms: Case Reports

Conventional absolute contraindications to catheter-directed thrombolysis include active or recent hemorrhage and the presence of local vascular infection, both of which increase the risk of procedure-related complications such as bleeding and systemic sepsis. For this reason, lytic therapy of arterial thromboembolism under these circumstances is generally precluded. Herein, we describe a unique case of safe catheter-directed lysis of an acutely thrombosed iliac artery following covered stent placement for treatment of an actively bleeding infected pseudoaneurysm. Our management approach is discussed.
The risk of intra-urethral Foley catheter balloon inflation in spinal cord-injured patients: Lessons learned from a retrospective case series
Authors: Vaidyanathan Subramanian, Bakul M Soni, Peter L Hughes, Gurpreet Singh, Tun Oo
Journal: Patient Saf Surg (2016)
Keywords: foley catheter, spinal cord injury, urethral catheterisation

Background:
Inflating the balloon of Foley catheter in urethra is a complication of urethral catheterisation. We report five patients in whom this complication occurred because of unskilled catheterisation. Due to lack of awareness, the problem was not recognised promptly and patients came to harm.
Case series:
A tetraplegic patient developed pain in lower abdomen and became unwell after transurethral catheterisation. CT pelvis revealed full bladder with balloon of Foley catheter in dilated urethra.Routine ultrasound examination in an asymptomatic tetraplegic patient with urethral catheter drainage, revealed Foley balloon in the urethra. He was advised to get catheterisations done by senior health professionals.A paraplegic patient developed bleeding and bypassing after transurethral catheterisation. X-ray revealed Foley balloon in urethra; urethral catheter was changed ensuring its correct placement in urinary bladder. Subsequently, balloon of Foley catheter was inflated in urethra several times by community nurses, which resulted in erosion of bulbous urethra and urinary fistula. Suprapubic cystostomy was performed.A tetraplegic patient developed sweating and increased spasms following urethral catheterisations. CT of abdomen revealed distended bladder with the balloon of Foley catheter located in urethra. Flexible cystoscopy and transurethral catheterisation over a guide-wire were performed. Patient noticed decrease in sweating and spasms.A paraplegic patient developed lower abdominal pain and nausea following catheterisation. CT abdomen revealed bilateral hydronephrosis and hydroureter and Foley balloon located in urethra. Urehral catheterisation was performed over a guide-wire after cystoscopy. Subsequently suprapubic cystostomy was done.
Conclusion:
Spinal cord injury patients are at increased risk for intra-urethral Foley catheter balloon inflation because of lack of sensation in urethra, urethral sphincter spasm, and false passage due to previous urethral trauma. Education and training of doctors and nurses in proper technique of catheterisation in spinal cord injury patients is vital to prevent intra-urethral inflation of Foley catheter balloon. If a spinal cord injury patient develops bypassing or symptoms of autonomic dysreflexia following catheterisation, incorrect placement of urethral catheter should be suspected.
Lung Cancer Cells Infiltration into a Mandibular Follicular Cyst
Authors: Stefano Marelli, Martina Ghizzoni, Matteo Pellegrini, Andrea Scribante, Gioacchino D'Ambrosio, Domenico Sfondrini
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Introduction:
The oral cavity is a rare site for other organs' tumor metastases. The incidence rate ranges from 1% to 3% of all oral malignancies. Metastases more frequently localize in the mandible, especially in the molar area. Metastases within odontogenic cysts are extremely rare, thus in the literature, only a few cases have been reported. The follicular cyst is one of the most frequent cysts of the jaws. Radiologically it shows as a unilocular lesion with a sclerotic border, characterized by a homogenous radiolucency that incorporates the crown of the unerupted tooth.
Methods:
A 76-year-old female patient, affected by stage IV of lung adenocarcinoma, reported pain on the left mandible border, alongside lip dysesthesia. The ortho-panoramic radiograph showed a follicular cyst in the posterior left side of the mandible, with involvement of the ascending branch region. The cyst was surgically removed together with the impacted tooth. A histopathological examination of the specimen confirmed the diagnostic suspect of a follicular cyst, but in the cystic wall, focal infiltration of epithelial neoplastic cells was also found. The immunohistochemical analysis showed the presence of three different markers: CK 7+, TTF1+/-, and P40-. These markers identify the cells as metastatic lung carcinoma.
Results:
Secondary tumor spreading in the jaws' area is rare (3% of all malignant lesions). Despite odontogenic cysts can undergo a dysplastic transformation (affecting the epithelial covering in ≤1% of the cases), infrequently these neoplastic cells can be related to secondary tumor spreading in a cystic wall. This report describes a metastatic localization within a mandibular follicular cyst.
Conclusions:
Malignant cancers' metastasis in the oral district remains a rare and unexplored condition, especially when metastases are located in odontogenic cysts. In this circumstance, surgical removal and histopathological examination are strongly recommended.
A case report of CAT gene and HNF1β gene variations in a patient with early-onset diabetes
Authors: Tao Cui, Hai-Bing Ju, Peng-Fei Liu, Yun-Jun Ma, Fu-Xian Zhang
Journal: Open Life Sci (2022)
Keywords: catalase, diabetes, genetic mutations, hepatocyte nuclear factor, prognosis
MeSH terms: Case Reports

Complex forms of diabetes are the ultimate common pathway involving multiple genetic variations and multiple environmental factors. Type 2 diabetes (T2DM) is classified as complex diabetes. Varying degrees of insulin deficiency and tissue insulin resistance are two key links to T2DM. The islet β cell dysfunction plays a crucial role in the pathogenesis of T2DM. The decompensation of the islet β cell to insulin resistance is a common mechanism leading to the pathogenesis of T2DM. Available data show that genetic factors mainly affect cell function. At present, a number of susceptibility genes related to T2DM have been reported at home and abroad. In this study, the diabetes-related genes in the case of early-onset diabetes with a significant family history were examined, and our results showed the presence of the intron mutations of catalase (CAT) gene and hepatocyte nuclear factor 1β (HNF1β) gene. The patient enrolled in this study was observed and analyzed, thus, increasing further understanding of the genes associated with diabetes and exploring the pathogenesis of diabetes from the molecular level. This is significant for guiding the prevention, treatment, and prognosis evaluation of diabetes.
Neuroborreliosis Mimicking Leptomeningeal Carcinomatosis in a Patient With Breast Cancer: A Case Report
Authors: Stefanie Fischer, Johannes Weber, Isabelle Senn-Schönenberger, Thomas Cerny, Thomas Hundsberger
Journal: J Investig Med High Impact Case Rep (2014)
Keywords: breast cancer, leptomeningeal carcinomatosis, leptomeningeal metastases, neuroborreliosis

Leptomeningeal carcinomatosis is a serious complication of advanced cancer. Various clinical manifestations may present, such as headache, nausea, seizures, cranial neuropathies. In this article, we report the case of a 65-year-old woman with metastatic breast cancer who was admitted to hospital suffering from facial palsy, which was suspected to be caused by leptomeningeal tumor infiltration. Magnetic resonance imaging (MRI) scans of the head and spine showed meningeal enhancement of the facial nerve, conus medullaris, and fibers of the cauda equina, which were radiologically interpreted as leptomeningeal carcinomatosis. Assessment of cerebrospinal fluid found no malignant cells but investigation for infectious diseases established the diagnosis of neuroborreliosis. Antibiotic treatment with doxycycline was performed. After completion of treatment, follow-up MRI scans found complete regression of meningeal enhancement. Several months later, the patient is still in good condition and without neurological symptoms. Hence, initial diagnosis of leptomeningeal carcinomatosis was rejected. This case report should alert oncologists to carefully rule out infectious diseases before leptomeningeal carcinomatosis is diagnosed. Cerebrospinal fluid analysis is strongly recommended due to low specificity of MRI images in this regard.
Case Report: Perivascular epithelioid tumors of the gastrointestinal tract
Authors: Hui Yan, Shuhui Zhang, Ying Ba, Kun Li, Guoling Gao, Yanmin Li, Yan Zhang, Chengxia Liu, Ning Shi
Journal: Front Oncol (2023)
Keywords: hmb-45, case report, perivascular epithelioid cell tumors, sigmoid colon, treatment
MeSH terms: Case Reports

Background:
Perivascular epithelioid cell tumor of the gastrointestinal tract (GI PEComa) is a rare mesenchymal neoplasm. GI PEComa is mostly observed in the colon and has a marked middle-aged female predominance. PEComa has no typical clinical or imaging manifestations or endoscopic characteristics. Therefore, the diagnosis of this disease mostly relies on pathological findings. HMB-45 is a sensitive immune marker of PEComa.
Case presentation:
We reported a case of a middle-aged female with sigmoid colon PEComa. To exclude carcinogenesis, the large basal polyp in the sigmoid colon was removed by endoscopic mucosal resection (EMR). Immunohistochemistry analysis results showed that this lesion expressed HMB-45, which is a characteristic melanin marker of PEComa. Finally, the lesion was diagnosed as sigmoid colon PEComa. At the time of submission of this report, surgical resection was the primary treatment for PEComa. Though the characteristics of tumor biology and clinical behavior in PEComa are not clear, the boundary is clear, and the tumor can be completely removed. However, close follow-up is required after the surgery because of the lesion's undetermined benign and malignant nature.
Conclusion:
The present case study emphasizes the importance of pathological diagnosis. Therefore, upon finding gastrointestinal polyps with a mucosal ulcer under endoscopy, the GI PEComa diagnosis should be considered. It is necessary to detect the characteristic melanin markers of PEComa. Due to the rarity of these cases, challenges are faced in diagnosing and treating PEComa.
An Atypical Presentation of Extrapulmonary Sarcoidosis
Authors: Muhammad Shabbir Rawala, Amna Saleem Ahmed, Kristen Helmick
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Sarcoidosis is an idiopathic, chronic, multisystem, granulomatous, inflammatory disease involving almost all organs. Sarcoidosis can occur with an atypical presentation of hepatosplenic involvement, like in the case of our patient. In this case report, we present a rare case of extrapulmonary sarcoidosis with isolated involvement of the liver and spleen in a 39-year-old Caucasian female. There is a possibility of this isolated involvement of an organ in the complete absence of pulmonary disease, which makes the diagnosis of sarcoidosis very difficult as it is usually not suspected. Ultrasound and CT are important in ruling out other differential diagnoses, but a definitive diagnosis is possible only on histological examination, differentiating sarcoid lesions from tuberculosis, primary biliary cirrhosis, metastasis, malignancy, and other granulomatous infections or diseases. Hence, the most credible criterion for diagnosis remains histology. After diagnosis, regular follow-up for systemic manifestations is recommended. Asymptomatic patients with hepatosplenic sarcoidosis have a good prognosis without any medical intervention, while patients with abnormal labs or symptoms must commence treatment.
Severe Decompression Sickness Associated with Shock and Acute Respiratory Failure
Authors: Abdullah Arjomand, James R Holm, Anthony J Gerbino
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Decompression sickness (DCS) is a well-recognized complication of diving but rarely results in shock or respiratory failure. We report a case of severe DCS in a diver associated with shock and respiratory failure requiring mechanical ventilation. A healthy 50-year-old male diver dove to a depth of 218 feet for 43 minutes while breathing air but omitted 6.5 hours of air decompression due to diver error. The clinical presentation was remarkable for loss of consciousness, hypotension, cutis marmorata, peripheral edema, and severe hypoxia requiring mechanical ventilation with diffuse lung opacities on chest radiograph. Laboratories were significant for polycythemia and hypoalbuminemia. A single hyperbaric oxygen treatment was provided on the day of admission during which shock worsened requiring aggressive volume resuscitation and three vasopressors. In the first 37 hours of hospitalization, 22 liters of crystalloid and multiple albumin boluses were administered for refractory hypotension by which time all vasopressors had been discontinued and blood pressure had normalized. He required 10 days of mechanical ventilation and was discharged on day 21 with mild DCS-related neurologic deficits. This clinical course is characteristic of DCS-related shock wherein bubble-endothelial interactions cause a transient capillary leak syndrome associated with plasma extravasation, hemoconcentration, and hypovolemia. The pathophysiology and typical clinical course of DCS-related shock suggest the need for aggressive but time-limited administration of crystalloid and albumin. Because hyperbaric oxygen is the primary treatment for DCS, treatment with hyperbaric oxygen should be strongly considered even in the face of extreme critical illness.
Transcatheter Proximal Coil Blocking with n-Butyl-2-Cyanoacrylate Injection via the Pulmonary Artery Alone for Rasmussen's Aneurysm
Authors: Atsushi Ugajin, Hiroyuki Fujii, Hiroyasu Nakamura, Akifumi Fujita, Takahiro Sasaki, Naoko Mato, Hideharu Sugimoto
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Rasmussen's aneurysm is a peripheral pulmonary artery pseudoaneurysm (PAP) within a tuberculosis cavity. Because it can be perfused from the bronchial and pulmonary arterial circulations, combined embolization via the bronchial and pulmonary arteries is sometimes required. Herein, we present case of a 51-year-old man with Rasmussen's aneurysm that was successfully treated by proximal coil blocking with n-butyl-2-cyanoacrylate (NBCA) injection via the pulmonary artery alone. With proximal coil blocking, a sufficient amount of NBCA could be injected without unintended reflux of the NBCA cast to the proximal pulmonary artery. To our knowledge, there has been no report that attempted NBCA injection under proximal coil blocking for Rasmussen's aneurysm. Our treatment approach may be safe and effective for infectious lung disease-related PAP, which has to be treated from the pulmonary artery side.